| 1 |
 |
|
Pi4ka
|
1.000
|
Pia
|
16 |
17280351-17406314 bp (-)
|
17281044 |
Autosomal Recessive (3;18)
Autosomal Semidominant (3;12) |
0.424 |
2020-07-29
External Program
|
FACS CD44+ CD4 T cells - increased
FACS CD44+ T cells - increased
FACS central 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
MTT Value of PECs - decreased
|
C ⇒ T |
missense |
|
probably damaging |
0.997 |
| 2 |
|
|
Ikzf1
|
0.000
|
Herrscher
|
11 |
11685003-11772926 bp (+)
|
11768961 |
Autosomal Dominant (20;151) |
0.984 |
2020-06-04
External Program
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 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 - 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 - increased
FACS NK cells - decreased
FACS NK1.1+ T cells - increased
FACS T cells - increased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 3 |
|
|
Lrba
|
0.000
|
oscar
|
3 |
86224680-86782692 bp (+)
|
86350304 |
Autosomal Recessive (2;15) |
0.964 |
2020-02-04
External Program
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1b cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD11c+ DCs - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 4 |
|
|
Prkce
|
0.000
|
Pinnacles
|
17 |
86167785-86657919 bp (+)
|
86476851 |
Autosomal Semidominant (1;5) |
0.034 |
2019-10-23
Anne Murray
|
FACS NK cells - decreased
|
C ⇒ T |
missense |
|
probably damaging |
0.997 |
| 5 |
|
|
Zbtb1
|
0.742
|
Old_friend
|
12 |
76370266-76396950 bp (+)
|
76385891 |
Autosomal Recessive (1;6)
Autosomal Semidominant (2;10) |
0.070 |
2019-10-23
Anne Murray
|
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS NK1.1+ T cells - increased
|
C ⇒ T |
missense |
|
probably damaging |
0.965 |
| 6 |
|
|
Jak3
|
0.721
|
citron
|
8 |
71676296-71690575 bp (+)
|
71686976 |
Autosomal Recessive (2;10)
Autosomal Semidominant (1;5) |
0.727 |
2019-09-04
Diantha La Vine
|
cellular phenotype
FACS B:T cells - increased
FACS B1b cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
|
C ⇒ T |
splice site |
4 bp |
probably benign |
|
| 7 |
|
|
Alms1
|
0.000
|
ares
|
6 |
85587531-85702753 bp (+)
|
85621275 |
Autosomal Recessive (2;10)
Autosomal Semidominant (1;4) |
0.981 |
2019-09-04
External Program
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
|
C ⇒ T |
nonsense |
|
probably null |
|
| 8 |
|
|
Tub
|
0.000
|
troy
|
7 |
108950338-109034460 bp (+)
|
109020954 |
Autosomal Recessive (6;31) |
0.706 |
2019-09-04
Bruce Beutler
|
adipose tissue
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (Z-score) - increased
growth/size
|
C ⇒ T |
nonsense |
|
probably null |
|
| 9 |
|
|
Lck
|
0.000
|
lockdown
|
4 |
129548344-129573641 bp (-)
|
129558127 |
Autosomal Recessive (13;68)
Autosomal Semidominant (2;8) |
0.955 |
2019-09-04
Katherine Timer
|
DSS: resistant day 10
DSS: sensitive day 7
FACS B:T cells - increased
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+ T MFI - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ 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
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
post-MCMV FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 10 |
|
|
Nos3
|
0.000
|
paul
|
5 |
24364810-24384474 bp (+)
|
24372704 |
Autosomal Recessive (2;8) |
0.210 |
2019-09-04
Diantha La Vine
|
DSS: sensitive day 7
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 11 |
|
|
Adamts20
|
0.164
|
buckeye
|
15 |
94270163-94465418 bp (-)
|
94341087 |
Unknown (1;0) |
failed initial filter |
2019-09-04
Diantha La Vine
|
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
0.999 |
| 12 |
|
|
Rims4
|
0.146
|
diminutive
|
2 |
163859751-163918683 bp (-)
|
163864865 |
Autosomal Dominant (2;8)
Autosomal Recessive (3;20) |
0.853 |
2019-09-04
Anne Murray
|
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
impaired response to dsDNA- type I IFN production by macrophages
|
C ⇒ T |
critical splice donor site |
|
probably null |
|
| 13 |
|
|
Cd22
|
0.000
|
gansu
|
7 |
30865402-30880342 bp (-)
|
30870105 |
Autosomal Recessive (7;42) |
0.910 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B2 cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 14 |
|
|
Adamts20
|
0.164
|
nidoking
|
15 |
94270163-94465418 bp (-)
|
94403445 |
Autosomal Recessive (1;12) |
0.487 |
2019-09-04
Diantha La Vine
|
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
0.999 |
| 15 |
|
|
Tg
|
0.131
|
ito
|
15 |
66670753-66850721 bp (+)
|
66766162 |
Unknown (1;0)
Autosomal Recessive (6;33) |
0.891 |
2019-09-04
Diantha La Vine
|
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
OVA-specific IgE - increased
total IgE level - increased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 16 |
|
|
Yap1
|
1.000
|
Puddel_hunde
|
9 |
7931999-8004596 bp (-)
|
8004284 |
Autosomal Semidominant (2;10) |
0.420 |
2019-09-04
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 17 |
|
|
Nlrp3
|
0.101
|
Park7
|
11 |
59541568-59566956 bp (+)
|
59548010 |
Autosomal Semidominant (2;12) |
0.897 |
2019-09-04
Diantha La Vine
|
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
OVA-specific IgE - increased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 18 |
|
|
Col6a2
|
0.000
|
piddling
|
10 |
76595762-76623630 bp (-)
|
76608106 |
Autosomal Recessive (3;19) |
0.605 |
2019-09-04
Anne Murray
|
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
|
C ⇒ T |
critical splice donor site |
|
probably null |
|
| 19 |
|
|
Pcdh15
|
0.000
|
sphere
|
10 |
73099342-74649737 bp (+)
|
74624284 |
Autosomal Recessive (1;2) |
failed initial filter |
2019-09-04
Diantha La Vine
|
behavior/neurological
hearing/vestibular/ear
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 20 |
|
|
Sppl2a
|
0.081
|
abra2
|
2 |
126890391-126933235 bp (-)
|
126920313 |
Autosomal Recessive (5;44)
Autosomal Semidominant (1;4) |
0.958 |
2019-09-04
Anne Murray
|
FACS central memory CD8 T cells in CD8 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
|
C ⇒ T |
splice site |
|
probably null |
|
| 21 |
|
|
Pnp
|
0.100
|
Porch
|
14 |
50931082-50965237 bp (+)
|
50950923 |
Autosomal Recessive (1;5)
Autosomal Semidominant (1;5) |
0.662 |
2019-09-04
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
C ⇒ T |
nonsense |
|
probably null |
|
| 22 |
|
|
Mpz
|
0.088
|
taz
|
1 |
171150711-171161130 bp (+)
|
171158810 |
Unknown |
no linkage result |
2019-09-04
Anne Murray
|
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 23 |
|
|
Alms1
|
0.000
|
ares2
|
6 |
85587531-85702753 bp (+)
|
85677990 |
Autosomal Recessive (9;66)
Autosomal Semidominant (2;9) |
0.625 |
2019-09-04
Diantha La Vine
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
resistance to B10-F16 melanoma - decreased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 24 |
|
|
Ctss
|
0.178
|
clip
|
3 |
95526786-95556403 bp (+)
|
95545384 |
Autosomal Recessive (2;11) |
0.283 |
2019-09-04
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
|
C ⇒ T |
nonsense |
|
probably null |
|
| 25 |
|
|
Alms1
|
0.000
|
fatty
|
6 |
85587531-85702753 bp (+)
|
85627934 |
Autosomal Dominant (1;1)
Autosomal Recessive (18;137), Autosomal Semidominant (3;10) |
0.989 |
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 CD11b+ DCs (gated in CD11c+ cells) - increased
growth/size
NK cell response - decreased
NK killing - decreased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 26 |
|
|
Ryr2
|
1.000
|
Arruda
|
13 |
11553102-12106945 bp (-)
|
11643895 |
Unknown |
no linkage result |
2019-09-04
Anne Murray
|
|
C ⇒ T |
missense |
|
probably damaging |
0.999 |
| 27 |
|
|
Pik3r1
|
0.000
|
Rocket
|
13 |
101680563-101768217 bp (-)
|
101689444 |
Autosomal Dominant (3;19) |
0.672 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 28 |
|
|
Smcr8
|
0.000
|
patriot3
|
11 |
60777524-60788287 bp (+)
|
60779870 |
Autosomal Recessive (5;24) |
0.957 |
2019-09-04
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
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 CD8+ 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 naive CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hypersensitivity to CpG + IFNg
|
C ⇒ T |
nonsense |
|
probably null |
|
| 29 |
|
|
Trpc1
|
0.151
|
luxus
|
9 |
95705082-95750375 bp (-)
|
95721132 |
Autosomal Recessive (5;18)
Autosomal Semidominant (1;4) |
0.345 |
2019-09-04
Diantha La Vine
|
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (Male) - increased
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
|
C ⇒ T |
critical splice donor site |
|
probably null |
|
| 30 |
|
|
Tbx21
|
0.287
|
plateau
|
11 |
97098071-97115331 bp (-)
|
97101478 |
Autosomal Dominant (1;6)
Autosomal Recessive (1;6) |
0.273 |
2019-09-04
Anne Murray
|
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
|
C ⇒ T |
critical splice donor site |
|
probably null |
|
| 31 |
|
|
Tnfrsf13c
|
0.195
|
Tannin
|
15 |
82221743-82224369 bp (-)
|
82224207 |
Autosomal Dominant (2;8) |
0.443 |
2019-09-04
Anne Murray
|
FACS B cells - decreased
FACS B:T cells - decreased
|
C ⇒ T |
missense |
|
probably damaging |
0.997 |
| 32 |
|
|
Gk5
|
0.000
|
homer
|
9 |
96119362-96184608 bp (+)
|
96140656 |
Autosomal Recessive (11;70) |
0.975 |
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
|
C ⇒ T |
nonsense |
|
probably null |
|
| 33 |
|
|
Gk5
|
0.000
|
sean
|
9 |
96119362-96184608 bp (+)
|
96176237 |
Autosomal Recessive (9;82)
Autosomal Semidominant (2;8) |
0.978 |
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
|
C ⇒ T |
nonsense |
|
probably null |
|
| 34 |
|
|
Ptprc
|
0.000
|
fuchsia
|
1 |
138062861-138175708 bp (-)
|
138101041 |
Autosomal Recessive (17;235)
Autosomal Semidominant (1;17) |
0.974 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
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 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
|
C ⇒ T |
critical splice donor site |
|
probably null |
|
| 35 |
|
|
Ptpn6
|
0.555
|
Vermeil
|
6 |
124720707-124738714 bp (-)
|
124732950 |
Autosomal Recessive (3;15)
Autosomal Semidominant (6;34) |
0.645 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
|
C ⇒ T |
missense |
|
probably benign |
0.103 |
| 36 |
|
|
Rasgrp1
|
0.249
|
venutian
|
2 |
117279993-117343001 bp (-)
|
117284929 |
Autosomal Recessive (18;323)
Autosomal Semidominant (1;11) |
0.983 |
2019-09-04
Diantha La Vine
|
FACS B:T cells - increased
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+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - 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
FACS NK cells - increased
FACS T cells - decreased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 37 |
|
|
Nfkb1
|
0.000
|
Murgatroyd
|
3 |
135584655-135691547 bp (-)
|
135626710 |
Autosomal Dominant (1;11) |
0.885 |
2019-09-04
Diantha La Vine
|
FACS B1 cells - decreased
|
C ⇒ T |
missense |
|
possibly damaging |
0.720 |
| 38 |
|
|
Atp2b2
|
0.907
|
johan
|
6 |
113743831-114042613 bp (-)
|
113773388 |
Autosomal Recessive (1;4) |
0.376 |
2019-09-04
Anne Murray
|
Body Weight - decreased
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 39 |
|
|
Klhl6
|
0.094
|
heights
|
16 |
19946496-19983037 bp (-)
|
19957028 |
Autosomal Recessive (3;13)
Autosomal Semidominant (1;5) |
0.718 |
2019-09-04
Diantha La Vine
|
FACS CD4+ T cells - increased
FACS IgD MFI - increased
FACS IgD+ B cell percentage - decreased
FACS T cells - increased
|
C ⇒ T |
missense |
|
probably damaging |
0.978 |
| 40 |
|
|
Lyn
|
0.000
|
water
|
4 |
3678115-3813122 bp (+)
|
3748787 |
Autosomal Dominant (1;4)
Autosomal Recessive (1;5) |
0.844 |
2019-09-04
Anne Murray
|
FACS B cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
C ⇒ T |
missense |
|
possibly damaging |
0.930 |
| 41 |
|
|
Nfkb1
|
0.000
|
Frisbee
|
3 |
135584655-135691547 bp (-)
|
135613943 |
Autosomal Recessive (1;5)
Autosomal Semidominant (3;13) |
0.825 |
2019-09-04
Anne Murray
|
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
total IgE level - decreased
|
C ⇒ T |
missense |
|
possibly damaging |
0.934 |
| 42 |
|
|
Tcf12
|
1.000
|
Substandard
|
9 |
71842688-72111871 bp (-)
|
71858840 |
Autosomal Dominant (5;24) |
0.840 |
2019-09-04
Anne Murray
|
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
C ⇒ T |
missense |
|
probably null |
0.539 |
| 43 |
|
|
Cd79b
|
0.064
|
Jeju
|
11 |
106311341-106314762 bp (-)
|
106312713 |
Autosomal Semidominant (5;36) |
0.913 |
2019-09-04
Anne Murray
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS T cells - increased
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 44 |
|
|
Dock2
|
0.000
|
Launch
|
11 |
34226815-34783892 bp (-)
|
34256562 |
Autosomal Dominant (1;4)
Autosomal Semidominant (1;5) |
0.508 |
2019-09-04
Diantha La Vine
|
FACS B:T cells - decreased
FACS CD8+ T cells - increased
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 45 |
|
|
Prkcb
|
0.000
|
Tikrit
|
7 |
122288751-122634402 bp (+)
|
122627693 |
Autosomal Dominant (1;4) |
0.916 |
2019-09-04
Anne Murray
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
C ⇒ T |
missense |
|
probably damaging |
0.997 |
| 46 |
|
|
Ptprc
|
0.000
|
Gentian
|
1 |
138062861-138175708 bp (-)
|
138067885 |
Autosomal Dominant (4;31)
Autosomal Semidominant (2;8) |
0.926 |
2019-09-04
Diantha La Vine
|
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
|
C ⇒ T |
critical splice donor site |
1 bp |
probably null |
|
| 47 |
|
|
Itgam
|
0.116
|
obscured
|
7 |
128062640-128118491 bp (+)
|
128081634 |
Autosomal Recessive (1;4) |
0.720 |
2019-02-01
Anne Murray
|
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 48 |
|
|
Nlrp3
|
0.101
|
Park2
|
11 |
59541568-59566956 bp (+)
|
59565128 |
Autosomal Dominant (1;4)
Autosomal Semidominant (1;5) |
0.899 |
2019-01-29
Diantha La Vine
|
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
C ⇒ T |
nonsense |
|
probably null |
|
| 49 |
|
|
Wdr41
|
0.000
|
metallica
|
13 |
94976344-95023314 bp (+)
|
95015174 |
Unknown |
no linkage results |
2019-01-09
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - 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
FACS NK1.1+ T cells - increased
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to R848
|
C ⇒ T |
nonsense |
|
probably null |
|
| 50 |
|
|
Irf8
|
0.000
|
gemini
|
8 |
120736358-120756694 bp (+)
|
120743883 |
Unknown (2;0) |
no linkage results |
2018-11-29
Diantha La Vine
|
cellular phenotype
FACS CD8+ T cells - decreased
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 51 |
|
|
Ifnar1
|
0.000
|
shook
|
16 |
91485238-91507441 bp (+)
|
91499537 |
Unknown (2;0)
Autosomal Recessive (1;5) |
0.464 |
2018-11-06
Diantha La Vine
|
dsDNA induced type I IFN production - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
impaired response to dsDNA- type I IFN production by macrophages
|
C ⇒ T |
nonsense |
|
probably null |
|
| 52 |
|
|
Klf5
|
1.000
|
Bernie
|
14 |
99298691-99315036 bp (+)
|
99302230 |
Autosomal Semidominant (2;13) |
0.738 |
2018-08-08
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 53 |
|
|
Slc45a2
|
0.084
|
galak
|
15 |
11000721-11029233 bp (+)
|
11012667 |
Unknown |
no linkage results |
2018-08-01
Diantha La Vine
|
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably benign |
0.000 |
| 54 |
|
|
Ednrb
|
0.803
|
gus-gus
|
14 |
103814625-103844402 bp (-)
|
103820013 |
Autosomal Recessive (1;2) |
failed initial filter |
2018-05-29
Anne Murray
|
lethality-postnatal
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
0.999 |
| 55 |
|
|
Myo5a
|
0.961
|
silver_decerebrate_2
|
9 |
75071015-75223688 bp (+)
|
75211127 |
Unknown |
no linkage results |
2018-05-22
Anne Murray
|
behavior/neurological
lethality-postnatal
life span-post-weaning/aging
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 56 |
|
|
Oca2
|
0.223
|
snowflake
|
7 |
56239760-56536518 bp (+)
|
56324680 |
Unknown |
no linkage results |
2018-01-12
Diantha La Vine
|
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
0.999 |
| 57 |
|
|
Fgf5
|
0.155
|
splinter
|
5 |
98254184-98277030 bp (+)
|
98261987 |
Autosomal Recessive (1;4) |
0.490 |
2016-12-08
Anne Murray
|
skin/coat/nails
|
C ⇒ T |
nonsense |
|
probably null |
|
| 58 |
|
|
Myo5a
|
0.961
|
naoki
|
9 |
75071015-75223688 bp (+)
|
75161492 |
Autosomal Recessive (1;2) |
failed initial filter |
2016-12-08
Anne Murray
|
behavior/neurological
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 59 |
|
|
Tyrp1
|
0.238
|
ca-los
|
4 |
80834123-80851719 bp (+)
|
80844868 |
Unknown (2;0)
Autosomal Recessive (1;1) |
failed initial filter |
2016-12-07
Anne Murray
|
MCMV resistance
pigmentation
skin/coat/nails
|
C ⇒ T |
nonsense |
|
probably null |
|
| 60 |
|
|
Vldlr
|
0.253
|
r26
|
19 |
27216484-27254231 bp (+)
|
27245654 |
Unknown |
no linkage results |
2016-09-20
Katherine Timer
|
vision/eye
|
C ⇒ T |
missense |
|
probably damaging |
0.989 |
| 61 |
|
|
Pax3
|
0.751
|
Widget
|
1 |
78101267-78197134 bp (-)
|
78122590 |
Unknown (1;0) |
no linkage results |
2016-05-13
Peter Jurek
|
pigmentation
skin/coat/nails
|
C ⇒ T |
critical splice donor site |
1 bp |
probably null |
|
| 62 |
|
|
Flt3
|
0.000
|
warmflash
|
5 |
147330741-147400489 bp (-)
|
147366918 |
Unknown (1;0) |
no linkage results |
2016-05-13
Anne Murray
|
FACS CD4:CD8 - increased
growth/size
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
|
C ⇒ T |
critical splice donor site |
1 bp |
probably null |
|
| 63 |
|
|
Atp7a
|
0.693
|
Tigrou-like
|
X |
106027276-106124926 bp (+)
|
106105250 |
Unknown |
no linkage results |
2016-05-13
Anne Murray
|
lethality-embryonic/perinatal
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 64 |
|
|
Tmprss6
|
0.070
|
masquerade
|
15 |
78439667-78468634 bp (-)
|
78468000 |
Unknown |
no linkage results |
2016-05-13
Peter Jurek
|
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
|
C ⇒ T |
intron |
|
probably benign |
|
| 65 |
|
|
Col4a4
|
0.080
|
aoba
|
1 |
82448423-82586849 bp (-)
|
82535740 |
Unknown (1;0) |
no linkage results |
2016-05-13
Stephen Lyon
|
digestive/alimentary
hearing/vestibular/ear
renal/urinary system
|
C ⇒ T |
critical splice donor site |
1 bp |
probably benign |
|
| 66 |
 |
|
Atp11c
|
0.407
|
ambrosius
|
X |
60223290-60592698 bp (-)
|
36608577 |
Unknown |
no linkage results |
2016-05-13
Stephen Lyon
|
anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
|
C ⇒ T |
unclassified |
1 bp |
probably benign |
|
