1 |
 |
|
Mbtps1
|
1.000
|
Muskrat
|
8 |
119508156-119558735 bp (-)
|
119538137 |
Autosomal Dominant (2;2) Autosomal Recessive (2;9) |
failed initial filter |
2020-07-29
External Program
|
pigmentation skin/coat/nails
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
2 |
 |
|
Inpp5d
|
0.887
|
Orange
|
1 |
87620312-87720507 bp (+)
|
87697546 |
Autosomal Dominant (3;10) Autosomal Semidominant (2;11) |
0.902 |
2020-06-05
Thomas Gallagher
|
FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B2 cells - decreased FACS CD11c+ DCs - increased
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
3 |
 |
|
Cd4
|
0.000
|
craw
|
6 |
124864692-124888221 bp (-)
|
124867746 |
Unknown (7;0) |
no linkage results |
2019-11-12
Bruce Beutler
|
FACS CD4+ T cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV
|
G ⇒ A |
nonsense |
|
probably null |
|
4 |
 |
|
Klhl6
|
0.094
|
cerulean
|
16 |
19946496-19983037 bp (-)
|
19957218 |
Autosomal Recessive (8;130) Autosomal Semidominant (6;41) |
0.902 |
2019-10-25
Bruce Beutler
|
FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - increased FACS B220 MFI - decreased FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 MFI - decreased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - decreased FACS central memory CD4 T cells in CD4 T cells - decreased FACS IgM+ B cells - decreased FACS T cells - increased total IgE level - increased
|
G ⇒ A |
nonsense |
|
probably null |
|
5 |
 |
|
Myo15
|
0.000
|
Typhoon
|
11 |
60469339-60528369 bp (+)
|
60487425 |
Autosomal Dominant (1;7) Autosomal Recessive (1;5) |
0.132 |
2019-10-23
Anne Murray
|
behavior/neurological NALP3 inflammasome signaling defect NLRP3 inflammasome: low response
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
6 |
 |
|
Kitl
|
0.362
|
Gregory
|
10 |
100015630-100100416 bp (+)
|
100076906 |
Unknown (2;0) Autosomal Dominant (3;8) |
failed initial filter |
2019-10-23
Anne Murray
|
pigmentation skin/coat/nails
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
7 |
 |
|
Tnfsf13b
|
0.096
|
Frozen
|
8 |
10006467-10039072 bp (+)
|
10031661 |
Autosomal Recessive (6;46) Autosomal Semidominant (8;93) |
0.837 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS CD11c+ DCs - increased FACS CD8+ T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS macrophages - increased FACS neutrophils - increased FACS T cells - increased T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
G ⇒ A |
splice site |
5 bp |
probably null |
|
8 |
 |
|
Arnt2
|
1.000
|
Arnold2
|
7 |
84246278-84410176 bp (-)
|
84347530 |
Autosomal Dominant (3;4) Autosomal Semidominant (3;17) |
0.985 |
2019-09-04
External Program
|
Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased DSS: sensitive day 10 growth/size NALP3 inflammasome signaling defect NK cell response - decreased NK killing - decreased NLRP3 inflammasome: high response
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
9 |
 |
|
Entpd5
|
0.000
|
eatsy
|
12 |
84373857-84409029 bp (-)
|
84382295 |
Autosomal Recessive (10;46) Autosomal Semidominant (2;9) |
0.918 |
2019-09-04
External Program
|
125-03 Response - increased Body Weight - decreased Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased Body Weight (Female) - decreased Body Weight (Z-score) - decreased DSS: sensitive day 10 DSS: sensitive day 7 FACS B1 cells - increased FACS CD44+ CD8 MFI - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased growth/size TLR signaling defect: hypersensitivity to PAM3CSK4
|
G ⇒ A |
nonsense |
|
probably null |
|
10 |
 |
|
Ciita
|
0.126
|
sisal
|
16 |
10480059-10528418 bp (+)
|
10513288 |
Autosomal Recessive (9;49) Autosomal Semidominant (1;4) |
0.880 |
2019-09-04
Anne Murray
|
FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD8+ T cells in CD3+ T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased post-MCMV FACS CD4:CD8 - decreased post-MCMV FACS CD8+ T cells in CD3+ T cells - increased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV TLR signaling defect: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
11 |
 |
|
Myo6
|
0.000
|
torticollis
|
9 |
80165031-80311729 bp (+)
|
80288217 |
Autosomal Recessive (4;15) |
0.174 |
2019-09-04
Anne Murray
|
behavior/neurological dsDNA induced type I IFN production - increased hearing/vestibular/ear impaired response to dsDNA- type I IFN production by macrophages
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
12 |
 |
|
Hr
|
0.000
|
yuanxiao
|
14 |
70552212-70573548 bp (+)
|
70571448 |
Autosomal Recessive (1;4) |
0.383 |
2019-09-04
Diantha La Vine
|
Body Weight (DSS Male) - decreased DSS: sensitive day 10 DSS: sensitive day 7 FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B1a cells in B1 cells - decreased FACS B1b cells - increased FACS B1b cells in B1 cells - increased FACS B2 cells - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - decreased FACS CD44+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS macrophages - increased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS T cells - decreased skin/coat/nails
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
13 |
 |
|
Gk5
|
0.000
|
tangyuan
|
9 |
96119362-96184608 bp (+)
|
96150797 |
Autosomal Recessive (6;25) |
0.981 |
2019-09-04
Anne Murray
|
FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased skin/coat/nails
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
14 |
 |
|
Itgb2
|
0.330
|
newhome
|
10 |
77530252-77565708 bp (+)
|
77559681 |
Autosomal Recessive (2;21) |
0.544 |
2019-09-04
Diantha La Vine
|
dsDNA induced type I IFN production - increased impaired response to dsDNA- type I IFN production by macrophages
|
G ⇒ A |
missense |
|
probably benign |
0.001 |
15 |
 |
|
Slx4
|
1.000
|
slim
|
16 |
3979105-4003770 bp (-)
|
3990910 |
Autosomal Recessive (4;22) |
0.495 |
2019-09-04
Anne Murray
|
Body Weight - decreased Body Weight (DSS Female) - decreased Body Weight (DSS) - decreased growth/size
|
G ⇒ A |
nonsense |
|
probably null |
|
16 |
 |
|
Ighe
|
0.049
|
Allegra
|
12 |
113271174-113273248 bp (-)
|
113271374 |
Autosomal Semidominant (2;9) |
0.119 |
2019-09-04
Anne Murray
|
ratio of OVA-specific IgE over the total IgE - increased total IgE level - decreased
|
G ⇒ A |
nonsense |
|
probably null |
|
17 |
 |
|
Naip5
|
0.068
|
inwood3
|
13 |
100211739-100246323 bp (-)
|
100221903 |
Autosomal Recessive (2;9) |
0.827 |
2019-09-04
Anne Murray
|
Nlrc4 inflammasome: low response
|
G ⇒ A |
nonsense |
|
probably null |
|
18 |
 |
|
Dock8
|
0.083
|
snowdrop
|
19 |
24999529-25202432 bp (+)
|
25184941 |
Autosomal Recessive (9;38) Autosomal Semidominant (1;4) |
0.933 |
2019-09-04
Anne Murray
|
FACS B:T cells - increased FACS CD4+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD8+ T cells - decreased FACS macrophages - increased FACS naive CD8 T cells in CD8 T cells - decreased FACS T cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
19 |
 |
|
Clock
|
0.730
|
uhr
|
5 |
76209868-76304792 bp (-)
|
76229554 |
Autosomal Recessive (1;2) |
failed initial filter |
2019-09-04
Katherine Timer
|
Body Weight - increased
|
G ⇒ A |
nonsense |
|
probably null |
|
20 |
 |
|
Rorc
|
0.814
|
macadamias2
|
3 |
94372794-94398276 bp (+)
|
94387193 |
Autosomal Recessive (18;118) |
0.977 |
2019-09-04
Diantha La Vine
|
FACS B:T cells - increased FACS B1a cells - increased FACS B1b cells - increased FACS B2 cells - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD8 MFI - increased FACS CD8+ T cells in CD3+ T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - increased FACS macrophages - increased FACS naive CD8 T cells in CD8 T cells - decreased NALP3 inflammasome signaling defect NLRP3 inflammasome: high response T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
21 |
 |
|
Tg
|
0.131
|
ito2
|
15 |
66670753-66850721 bp (+)
|
66671396 |
Unknown (1;0) Autosomal Recessive (17;94), Autosomal Semidominant (1;5) |
0.883 |
2019-09-04
Diantha La Vine
|
Body Weight - decreased Body Weight (Female) - decreased Body Weight (Z-score) - decreased DSS: sensitive day 10 FACS B cells - decreased FACS B1a cells - increased FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 T cells - increased FACS CD8+ T cells in CD3+ T cells - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS macrophages - increased
|
G ⇒ A |
missense |
|
probably damaging |
0.999 |
22 |
 |
|
Fgfr4
|
0.000
|
Modest
|
13 |
55152640-55168759 bp (+)
|
55166251 |
Autosomal Semidominant (5;27) |
0.425 |
2019-09-04
Diantha La Vine
|
Body Weight - decreased Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased Body Weight (Z-score) - decreased FACS B1a cells in B1 cells - decreased
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
23 |
 |
|
Lepr
|
0.000
|
giant
|
4 |
101717404-101815352 bp (+)
|
101765152 |
Autosomal Recessive (13;96) Autosomal Semidominant (1;3) |
0.917 |
2019-09-04
Diantha La Vine
|
30 min GTT hyperglycemic Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased FACS macrophages - increased growth/size NK cell response - decreased NK killing - decreased OVA-specific IgE - increased TLR signaling defect: hyposensitivity to CpG + IFNg total IgE level - increased
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
24 |
 |
|
Impdh1
|
0.241
|
steve
|
6 |
29200434-29216364 bp (-)
|
29204632 |
Autosomal Recessive (3;25) Autosomal Semidominant (1;4) |
0.425 |
2019-09-04
Anne Murray
|
TLR signaling defect: hyposensitivity to CpG + IFNg vision/eye
|
G ⇒ A |
nonsense |
|
probably null |
|
25 |
 |
|
Fbxl3
|
0.230
|
delargo
|
14 |
103080239-103099566 bp (-)
|
103089418 |
Autosomal Recessive (4;46) Autosomal Semidominant (1;14) |
no linkage result |
2019-09-04
Anne Murray
|
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
26 |
 |
|
Itgb2
|
0.330
|
nibbler
|
10 |
77530252-77565708 bp (+)
|
77561216 |
Autosomal Recessive (25;179) |
0.957 |
2019-09-04
Diantha La Vine
|
CD8 response - decreased CTL killing - decreased CTL killing dominant epitope - decreased FACS B cells - decreased FACS B:T cells - decreased FACS B1b cells - increased FACS CD11b+ DCs (gated in CD11c+ cells) - decreased FACS CD4:CD8 - increased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - decreased FACS CD8a+ DCs (gated in CD11c+ cells) - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS macrophages - decreased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - decreased FACS NK1.1+ T cells - increased NK cell response - decreased NK killing - decreased T-dependent humoral response defect- decreased antibody response to rSFV total IgE level - increased
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
27 |
 |
|
Hps5
|
0.116
|
smoky
|
7 |
46760466-46796064 bp (-)
|
46769351 |
Autosomal Recessive (1;2) |
failed initial filter |
2019-09-04
Diantha La Vine
|
pigmentation skin/coat/nails
|
G ⇒ A |
nonsense |
|
probably null |
|
28 |
 |
|
Prkcq
|
0.000
|
celina2
|
2 |
11172108-11301222 bp (+)
|
11226986 |
Autosomal Recessive (1;4) |
0.526 |
2019-09-04
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
29 |
 |
|
Slc6a6
|
0.000
|
durango
|
6 |
91684053-91759066 bp (+)
|
91723471 |
Autosomal Recessive (5;53) Autosomal Semidominant (2;8) |
0.974 |
2019-09-04
Anne Murray
|
FACS effector memory CD4 T cells in CD4 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased vision/eye
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
30 |
 |
|
Prkdc
|
0.947
|
screamer6
|
16 |
15637866-15842235 bp (+)
|
15759605 |
Autosomal Recessive (2;11) |
0.873 |
2019-09-04
Diantha La Vine
|
FACS effector memory CD4 T cells in CD4 T cells - increased T-dependent humoral response defect- decreased antibody response to rSFV
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
31 |
 |
|
Aicda
|
0.000
|
creeper
|
6 |
122553801-122564180 bp (+)
|
122561867 |
Autosomal Dominant (1;4) Autosomal Recessive (3;21), Autosomal Semidominant (2;16) |
0.951 |
2019-09-04
Anne Murray
|
OVA-specific IgE - decreased ratio of OVA-specific IgE over the total IgE - increased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased total IgE level - decreased
|
G ⇒ A |
missense |
|
probably damaging |
0.999 |
32 |
 |
|
Vav1
|
0.270
|
Plain_sight
|
17 |
57279100-57328031 bp (+)
|
57297122 |
Autosomal Semidominant (1;5) |
0.810 |
2019-09-04
Diantha La Vine
|
FACS B1 cells - decreased
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
33 |
 |
|
Ltbr
|
0.174
|
armitage
|
6 |
125306571-125313885 bp (-)
|
125312794 |
Autosomal Recessive (1;5) Autosomal Semidominant (1;2) |
0.816 |
2019-09-04
Diantha La Vine
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
G ⇒ A |
missense |
|
probably damaging |
0.973 |
34 |
 |
|
Slc13a5
|
0.000
|
punk2
|
11 |
72241989-72267222 bp (-)
|
72253391 |
Autosomal Recessive (11;62) |
0.337 |
2019-09-04
Anne Murray
|
Body Weight - decreased Body Weight (Female) - decreased Body Weight (Z-score) - decreased
|
G ⇒ A |
missense |
|
possibly damaging |
0.655 |
35 |
 |
|
Eml1
|
0.272
|
bubble
|
12 |
108370957-108539617 bp (+)
|
108513071 |
Autosomal Recessive (1;8) |
failed initial filter |
2019-09-04
Anne Murray
|
craniofacial nervous system
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
36 |
 |
|
Card11
|
0.000
|
Sharp
|
5 |
140872990-141000582 bp (-)
|
140876425 |
Autosomal Semidominant (2;10) |
0.709 |
2019-09-04
Diantha La Vine
|
FACS CD4+ T cells - increased FACS T cells - increased
|
G ⇒ A |
missense |
|
possibly damaging |
0.934 |
37 |
 |
|
Il4ra
|
0.082
|
Haile
|
7 |
125552120-125579474 bp (+)
|
125574717 |
Autosomal Dominant (1;4) |
0.088 |
2019-09-04
Anne Murray
|
total IgE level - decreased
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
38 |
 |
|
Jak3
|
0.721
|
potentes
|
8 |
71676296-71690575 bp (+)
|
71686058 |
Autosomal Recessive (2;8) |
0.827 |
2019-09-04
Anne Murray
|
FACS CD4:CD8 - increased FACS CD4+ T cells in CD3+ T cells - increased
|
G ⇒ A |
missense |
|
probably damaging |
0.985 |
39 |
 |
|
Nfkb1
|
0.000
|
Wheelo
|
3 |
135584655-135691547 bp (-)
|
135615349 |
Autosomal Semidominant (1;4) |
0.577 |
2019-09-04
Anne Murray
|
total IgE level - decreased
|
G ⇒ A |
missense |
|
possibly damaging |
0.806 |
40 |
 |
|
Nos3
|
0.000
|
Peter
|
5 |
24364810-24384474 bp (+)
|
24377855 |
Autosomal Semidominant (1;5) |
0.391 |
2019-09-04
Anne Murray
|
DSS: sensitive day 7
|
G ⇒ A |
missense |
|
probably damaging |
0.994 |
41 |
 |
|
Pappa
|
0.728
|
maennelein
|
4 |
65124174-65357509 bp (+)
|
65314796 |
Unknown (2;0) Autosomal Dominant (1;1), Autosomal Recessive (6;40) |
0.886 |
2019-09-04
Diantha La Vine
|
Body Weight - decreased Body Weight (Female) - decreased Body Weight (Z-score) - decreased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization TLR signaling defect: hypersensitivity to LPS TLR signaling defect: hypersensitivity to PAM3CSK4 TLR signaling defect: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages
|
G ⇒ A |
splice site |
5 bp |
probably null |
|
42 |
 |
|
Pappa2
|
0.000
|
Gulliver
|
1 |
158711727-158980490 bp (-)
|
158857136 |
Autosomal Dominant (1;4) |
0.908 |
2019-09-04
Anne Murray
|
Body Weight - decreased
|
G ⇒ A |
missense |
|
probably null |
1.000 |
43 |
 |
|
Tg
|
0.131
|
samarai
|
15 |
66670753-66850721 bp (+)
|
66758006 |
Autosomal Recessive (15;67) |
0.893 |
2019-09-04
Anne Murray
|
Body Weight - decreased Body Weight (Z-score) - decreased FACS B1a cells - increased FACS B2 cells - decreased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS IgM+ B cells - decreased FACS macrophages - increased total IgE level - increased
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
44 |
 |
|
Vav1
|
0.270
|
Delayed
|
17 |
57279100-57328031 bp (+)
|
57296552 |
Autosomal Dominant (11;76) Autosomal Semidominant (3;13) |
0.954 |
2019-09-04
Anne Murray
|
FACS B1 cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased
|
G ⇒ A |
missense |
|
probably damaging |
0.998 |
45 |
 |
|
Lmbr1l
|
0.000
|
morula
|
15 |
98903917-98918231 bp (-)
|
98904791 |
Autosomal Recessive (1;4) |
0.920 |
2019-09-04
Anne Murray
|
CD8 response - decreased CTL killing - decreased CTL killing dominant epitope - decreased FACS B cells - increased FACS B:T cells - increased FACS B1 cells - increased FACS B1a cells in B1 cells - decreased FACS B220 MFI - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 MFI - increased FACS CD44+ CD8 MFI - increased FACS CD44+ T cells - decreased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - decreased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - increased FACS IgM MFI - increased FACS IgM+ B cells - increased FACS macrophages - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS NK cells - decreased FACS NK1.1+ T cells - decreased FACS T cells - decreased MCMV susceptibility NK cell response - decreased NK killing - decreased T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
46 |
 |
|
Rel
|
0.000
|
giza
|
11 |
23736847-23770970 bp (-)
|
23757010 |
Autosomal Recessive (1;4) |
0.855 |
2019-09-04
Anne Murray
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
G ⇒ A |
missense |
|
probably damaging |
0.995 |
47 |
 |
|
Rag1
|
0.521
|
dysfunctional
|
2 |
101638282-101649501 bp (-)
|
101644284 |
Autosomal Recessive (3;14) Autosomal Semidominant (1;5) |
0.862 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased FACS B:T cells - decreased FACS CD44+ CD8 MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
48 |
 |
|
Prkcb
|
0.000
|
Baghdad
|
7 |
122288751-122634402 bp (+)
|
122627663 |
Autosomal Semidominant (1;6) |
0.531 |
2019-09-04
Anne Murray
|
FACS B1 cells - decreased
|
G ⇒ A |
missense |
|
probably benign |
0.070 |
49 |
 |
|
Kbtbd2
|
0.000
|
teeny
|
6 |
56777524-56797813 bp (-)
|
56780389 |
Unknown (1;0) Autosomal Recessive (6;45), Autosomal Semidominant (1;7) |
0.979 |
2019-08-15
External Program
|
30 min GTT hyperglycemic Body Weight - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased FACS B1a cells - decreased FACS CD44+ CD8 T cells - increased growth/size liver/biliary system
|
G ⇒ A |
nonsense |
|
probably null |
|
50 |
 |
|
Cd22
|
0.000
|
well
|
7 |
30865402-30880342 bp (-)
|
30877787 |
Unknown |
no linkage results |
2019-07-29
Diantha La Vine
|
FACS B cells - decreased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
G ⇒ A |
nonsense |
|
probably null |
|
51 |
 |
|
Ptprc
|
0.000
|
guotie
|
1 |
138062861-138175708 bp (-)
|
138068401 |
Unknown (1;0) Autosomal Recessive (53;509), Autosomal Semidominant (9;57) |
0.970 |
2019-06-06
Diantha La Vine
|
30 min GTT hypoglycemic 30 min GTT hypoglycemic (male) Body Weight - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - increased FACS B1a cells in B1 cells - decreased FACS B1b cells - increased FACS B2 cells - decreased FACS CD11c+ DCs - increased FACS CD4:CD8 - increased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 T cells - decreased FACS CD44+ CD8 MFI - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - decreased FACS CD44+ T cells - decreased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - decreased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS NK1.1+ T cells - decreased FACS T cells - decreased post-MCMV FACS B cells - decreased post-MCMV FACS B:T cells - decreased post-MCMV FACS B1 cells - increased post-MCMV FACS B1a cells in B1 cells - decreased post-MCMV FACS B1b cells in B1 cells - increased post-MCMV FACS B220 MFI - decreased post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased post-MCMV FACS CD4:CD8 - increased post-MCMV FACS CD4+ T cells - decreased post-MCMV FACS CD44+ CD8 MFI - increased post-MCMV FACS CD44+ T MFI - increased post-MCMV FACS CD8+ T cells - decreased post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - decreased post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased post-MCMV FACS IgD MFI - decreased post-MCMV FACS IgD+ B cell percentage - decreased post-MCMV FACS IgM MFI - increased post-MCMV FACS IgM+ B cells - decreased post-MCMV FACS macrophages - decreased post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased post-MCMV FACS neutrophils - increased post-MCMV FACS NK T cells - decreased post-MCMV FACS pDCs - decreased post-MCMV FACS T cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV total IgE level - decreased
|
G ⇒ A |
nonsense |
|
probably null |
|
52 |
 |
|
Msh6
|
1.000
|
medea
|
17 |
87975050-87990883 bp (+)
|
87980223 |
Autosomal Recessive (1;20) |
0.629 |
2019-05-22
Diantha La Vine
|
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization total IgE level - decreased
|
G ⇒ A |
nonsense |
|
probably null |
|
53 |
 |
|
Dock2
|
0.000
|
dew
|
11 |
34226815-34783892 bp (-)
|
34248636 |
Unknown (1;0) |
no linkage results |
2019-05-21
Diantha La Vine
|
FACS CD4+ T cells - decreased FACS CD8+ T cells - decreased T-dependent humoral response defect- decreased antibody response to rSFV
|
G ⇒ A |
nonsense |
|
probably null |
|
54 |
 |
|
Card11
|
0.000
|
may
|
5 |
140872990-141000582 bp (-)
|
140876495 |
Unknown |
no linkage results |
2019-04-16
Diantha La Vine
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
G ⇒ A |
nonsense |
|
probably null |
|
55 |
 |
|
Lepr
|
0.000
|
well-upholstered
|
4 |
101717404-101815352 bp (+)
|
101772959 |
Unknown |
no linkage results |
2019-03-30
Diantha La Vine
|
adipose tissue behavior/neurological Body Weight - increased growth/size homeostasis/metabolism reproductive system
|
G ⇒ A |
synonymous |
|
probably benign |
|
56 |
 |
|
Fnip1
|
0.688
|
hamel
|
11 |
54438199-54518235 bp (+)
|
54480685 |
Unknown |
no linkage results |
2019-02-07
Diantha La Vine
|
hematopoietic competition - disadvantage hematopoietic system homeostasis/metabolism muscle
|
G ⇒ A |
critical splice donor site |
1 bp |
probably benign |
|
57 |
 |
|
Tlr7
|
0.168
|
rsq1
|
X |
167304929-167330558 bp (-)
|
167308286 |
Unknown (1;0) |
no linkage results |
2018-12-14
Diantha La Vine
|
immune system TLR signaling defect: TNF production by macrophages
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
58 |
 |
|
Atp11c
|
0.407
|
emptyhive
|
X |
60223290-60592698 bp (-)
|
60269987 |
Unknown |
no linkage results |
2018-10-25
Diantha La Vine
|
FACS B cells - decreased hematopoietic system homeostasis/metabolism immune system liver/biliary system reproductive system
|
G ⇒ A |
nonsense |
|
probably null |
|
59 |
 |
|
Hr
|
0.000
|
mister_clean
|
14 |
70552212-70573548 bp (+)
|
70560065 |
Unknown |
no linkage results |
2018-03-02
Diantha La Vine
|
Body Weight (DSS Male) - decreased DSS: sensitive day 10 DSS: sensitive day 7 FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B1a cells in B1 cells - decreased FACS B1b cells - increased FACS B1b cells in B1 cells - increased FACS B2 cells - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - decreased FACS CD44+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS macrophages - increased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS T cells - decreased skin/coat/nails
|
G ⇒ A |
critical splice donor site |
1 bp |
probably benign |
|
60 |
 |
|
Oca2
|
0.223
|
quicksilver
|
7 |
56239760-56536518 bp (+)
|
56324661 |
Unknown |
no linkage results |
2018-01-12
Diantha La Vine
|
pigmentation skin/coat/nails
|
G ⇒ A |
missense |
|
probably benign |
0.190 |
61 |
 |
|
Muc2
|
0.083
|
Winnie
|
7 |
141690340-141754693 bp (+)
|
141699460 |
Unknown |
no linkage results |
2017-09-13
Diantha La Vine
|
DSS: sensitive day 7 immune system
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
62 |
 |
|
Map3k8
|
0.000
|
gnostic_gospel
|
18 |
4331327-4353015 bp (-)
|
4333965 |
Unknown (1;0) Autosomal Dominant (1;3), Autosomal Recessive (4;20), Autosomal Semidominant (1;3) |
0.796 |
2017-09-11
Diantha La Vine
|
FACS B1 cells - increased NALP3 inflammasome signaling defect NLRP3 inflammasome: low response TLR signaling defect: hyposensitivity to LPS TLR signaling defect: hyposensitivity to PAM3CSK4 TLR signaling defect: hyposensitivity to poly I:C TLR signaling defect: TNF production by macrophages
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
63 |
 |
|
Map3k14
|
0.665
|
lucky
|
11 |
103219762-103267472 bp (-)
|
103249558 |
Unknown (1;0) |
no linkage results |
2017-04-06
Katherine Timer
|
FACS B cells - decreased hematopoietic system immune system T-dependent humoral response defect- decreased antibody response to rSFV
|
G ⇒ A |
intron |
|
probably benign |
|
64 |
 |
|
Cd14
|
0.116
|
heedless
|
18 |
36725074-36726736 bp (-)
|
36726171 |
Unknown (1;0) |
no linkage results |
2017-03-27
Katherine Timer
|
immune system TLR signaling defect: TNF production by macrophages
|
G ⇒ A |
missense |
|
probably benign |
0.007 |
65 |
 |
|
Tlr4
|
0.000
|
Lps4
|
4 |
66827584-66930284 bp (+)
|
66841142 |
Unknown (1;0) |
no linkage results |
2016-12-09
Katherine Timer
|
immune system TLR signaling defect: TNF production by macrophages
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
66 |
 |
|
Ticam1
|
0.000
|
Pangu
|
17 |
56269319-56276786 bp (-)
|
56276693 |
Unknown (2;0) |
no linkage results |
2016-10-13
Anne Murray
|
TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages
|
G ⇒ A |
critical splice donor site |
|
probably benign |
|
67 |
 |
|
Tmprss6
|
0.070
|
zorro
|
15 |
78439667-78468634 bp (-)
|
78464552 |
Unknown |
no linkage results |
2016-05-13
Peter Jurek
|
embryogenesis growth/size hematopoietic system homeostasis/metabolism iron deficiency reproductive system skin/coat/nails
|
G ⇒ A |
intron |
|
probably benign |
|
68 |
 |
|
Tgm3
|
0.000
|
tortellini
|
2 |
130012349-130050399 bp (+)
|
130024585 |
Unknown (1;0) |
no linkage results |
2016-05-13
Stephen Lyon
|
immune system RVFV susceptibility skin/coat/nails
|
G ⇒ A |
critical splice donor site |
1 bp |
probably benign |
|
69 |
 |
|
Tlr9
|
0.089
|
Cpg6
|
9 |
106222598-106226883 bp (+)
|
106226593 |
Unknown (2;0) |
no linkage results |
2016-05-13
Peter Jurek
|
immune system response to injected CpG DNA - decreased TLR signaling defect: TNF production by macrophages
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
70 |
 |
|
Bicc1
|
1.000
|
artemis
|
10 |
70922832-71159700 bp (-)
|
71027954 |
Unknown |
no linkage results |
2016-05-13
Stephen Lyon
|
homeostasis/metabolism life span-post-weaning/aging renal/urinary system
|
G ⇒ A |
missense |
|
probably damaging |
0.994 |