Incidental Mutation 'R0726:Cd101'
| ID |
63748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd101
|
| Ensembl Gene |
ENSMUSG00000086564 |
| Gene Name |
CD101 antigen |
| Synonyms |
LOC381460, Igsf2 |
| MMRRC Submission |
038908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0726 (G1)
|
| Quality Score |
171 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100900845-100936872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100927938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 48
(S48T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000147399]
[ENSMUST00000167086]
|
| AlphaFold |
A8E0Y8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147399
AA Change: S52T
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: S52T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
28 |
143 |
4.96e-8 |
SMART |
|
IG
|
153 |
266 |
4.74e-5 |
SMART |
|
IG_like
|
274 |
379 |
2.19e-1 |
SMART |
|
IG
|
289 |
395 |
3.25e-3 |
SMART |
|
IG
|
417 |
533 |
4.85e-11 |
SMART |
|
IG
|
545 |
659 |
1.52e-3 |
SMART |
|
IG
|
680 |
805 |
3.16e-1 |
SMART |
|
IG_like
|
827 |
927 |
2.95e-1 |
SMART |
|
IG
|
856 |
955 |
1.04e-1 |
SMART |
|
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167086
AA Change: S48T
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: S48T
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
24 |
139 |
4.96e-8 |
SMART |
|
IG
|
149 |
262 |
4.74e-5 |
SMART |
|
IG_like
|
270 |
375 |
2.19e-1 |
SMART |
|
IG
|
285 |
391 |
3.25e-3 |
SMART |
|
IG
|
413 |
529 |
4.85e-11 |
SMART |
|
IG
|
541 |
655 |
1.52e-3 |
SMART |
|
IG
|
676 |
801 |
3.16e-1 |
SMART |
|
IG_like
|
823 |
923 |
2.95e-1 |
SMART |
|
IG
|
852 |
951 |
1.04e-1 |
SMART |
|
transmembrane domain
|
967 |
989 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1415 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 89.2%
|
| Validation Efficiency |
98% (90/92) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced Gr-1+ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
A |
G |
7: 143,425,498 (GRCm39) |
D49G |
probably damaging |
Het |
| Alg12 |
T |
C |
15: 88,690,850 (GRCm39) |
Y256C |
probably damaging |
Het |
| Alox15 |
T |
A |
11: 70,241,021 (GRCm39) |
D160V |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,373,941 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
G |
T |
9: 22,705,119 (GRCm39) |
A729S |
probably damaging |
Het |
| Bltp3a |
T |
C |
17: 28,104,463 (GRCm39) |
V503A |
possibly damaging |
Het |
| Bmp2k |
T |
A |
5: 97,235,353 (GRCm39) |
|
probably benign |
Het |
| Braf |
C |
T |
6: 39,639,082 (GRCm39) |
R223Q |
possibly damaging |
Het |
| Cdh9 |
T |
G |
15: 16,831,130 (GRCm39) |
D322E |
probably benign |
Het |
| Col28a1 |
C |
T |
6: 8,014,495 (GRCm39) |
|
probably null |
Het |
| Cpxm1 |
G |
A |
2: 130,232,859 (GRCm39) |
R712W |
probably damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,939,637 (GRCm39) |
|
probably benign |
Het |
| Cyp2d37-ps |
A |
C |
15: 82,574,650 (GRCm39) |
|
noncoding transcript |
Het |
| Cyth3 |
T |
C |
5: 143,678,397 (GRCm39) |
V115A |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,856,507 (GRCm39) |
V2885M |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,889,180 (GRCm39) |
Y326* |
probably null |
Het |
| Espl1 |
T |
C |
15: 102,231,033 (GRCm39) |
I1844T |
probably benign |
Het |
| Fam20a |
T |
A |
11: 109,568,020 (GRCm39) |
N357Y |
probably damaging |
Het |
| Fancc |
C |
A |
13: 63,471,225 (GRCm39) |
R385L |
probably benign |
Het |
| Foxe3 |
A |
T |
4: 114,782,447 (GRCm39) |
L255H |
unknown |
Het |
| Frem2 |
T |
C |
3: 53,427,047 (GRCm39) |
D2967G |
possibly damaging |
Het |
| Gabra6 |
T |
G |
11: 42,205,954 (GRCm39) |
T301P |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,888,477 (GRCm39) |
Y511N |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,657,412 (GRCm39) |
|
probably benign |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Kcnj9 |
G |
A |
1: 172,153,488 (GRCm39) |
S212F |
probably damaging |
Het |
| Kif15 |
C |
A |
9: 122,788,993 (GRCm39) |
H62N |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,647 (GRCm39) |
D106G |
probably damaging |
Het |
| Krtap13-1 |
T |
A |
16: 88,526,192 (GRCm39) |
S139T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,131 (GRCm39) |
N354K |
probably benign |
Het |
| Lypd3 |
G |
T |
7: 24,337,969 (GRCm39) |
E112* |
probably null |
Het |
| Med13l |
A |
T |
5: 118,886,749 (GRCm39) |
N1550I |
probably damaging |
Het |
| Mettl2 |
C |
T |
11: 105,017,670 (GRCm39) |
P60L |
probably benign |
Het |
| Mtcl2 |
G |
T |
2: 156,902,182 (GRCm39) |
R278S |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,590,201 (GRCm39) |
E850G |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,626 (GRCm39) |
R739G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,381,039 (GRCm39) |
D584E |
probably benign |
Het |
| Nkain3 |
C |
T |
4: 20,158,388 (GRCm39) |
V162M |
possibly damaging |
Het |
| Nmrk1 |
T |
C |
19: 18,618,844 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,018,372 (GRCm39) |
|
probably benign |
Het |
| Or2n1b |
T |
C |
17: 38,459,515 (GRCm39) |
F12S |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,979,627 (GRCm39) |
H241L |
probably damaging |
Het |
| Or4p23 |
A |
T |
2: 88,576,352 (GRCm39) |
N293K |
probably benign |
Het |
| Or5b24 |
T |
A |
19: 12,912,969 (GRCm39) |
V289D |
probably damaging |
Het |
| Or8b44 |
T |
A |
9: 38,410,418 (GRCm39) |
M151K |
possibly damaging |
Het |
| Otulinl |
A |
T |
15: 27,657,033 (GRCm39) |
I338N |
probably damaging |
Het |
| Phex |
T |
A |
X: 156,155,557 (GRCm39) |
|
probably benign |
Het |
| Pip5k1b |
G |
T |
19: 24,356,256 (GRCm39) |
D227E |
probably damaging |
Het |
| Prdm13 |
A |
G |
4: 21,683,914 (GRCm39) |
I119T |
unknown |
Het |
| Rab19 |
G |
T |
6: 39,360,893 (GRCm39) |
V14L |
probably benign |
Het |
| Rasa3 |
A |
G |
8: 13,630,118 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,678,074 (GRCm39) |
S118N |
probably damaging |
Het |
| Rif1 |
C |
T |
2: 52,000,365 (GRCm39) |
T1273M |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,425,048 (GRCm39) |
T188A |
probably damaging |
Het |
| Sh3pxd2a |
C |
T |
19: 47,257,201 (GRCm39) |
E506K |
probably damaging |
Het |
| Smarca2 |
A |
T |
19: 26,675,803 (GRCm39) |
K1014N |
probably damaging |
Het |
| Smarca4 |
T |
G |
9: 21,611,435 (GRCm39) |
|
probably null |
Het |
| Sntb1 |
T |
C |
15: 55,539,752 (GRCm39) |
R361G |
probably benign |
Het |
| Stx5a |
T |
A |
19: 8,732,275 (GRCm39) |
I208N |
probably damaging |
Het |
| Tas2r102 |
T |
A |
6: 132,739,415 (GRCm39) |
W108R |
probably damaging |
Het |
| Tcl1 |
A |
G |
12: 105,184,929 (GRCm39) |
Y94H |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,689,629 (GRCm39) |
Y1986F |
probably damaging |
Het |
| Tet2 |
G |
A |
3: 133,173,945 (GRCm39) |
P1439L |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,563,108 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
G |
A |
3: 89,928,553 (GRCm39) |
T526M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ushbp1 |
T |
A |
8: 71,841,391 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
C |
T |
9: 48,915,169 (GRCm39) |
R115C |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,215,786 (GRCm39) |
D261V |
probably damaging |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,186 (GRCm39) |
D461N |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,265 (GRCm39) |
F784I |
probably damaging |
Het |
| Zfp59 |
A |
T |
7: 27,553,513 (GRCm39) |
I322F |
probably damaging |
Het |
| Zfp607a |
A |
T |
7: 27,578,574 (GRCm39) |
H548L |
probably benign |
Het |
| Zfp626 |
G |
A |
7: 27,518,048 (GRCm39) |
C343Y |
probably damaging |
Het |
|
| Other mutations in Cd101 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Cd101
|
APN |
3 |
100,911,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01443:Cd101
|
APN |
3 |
100,910,887 (GRCm39) |
missense |
probably benign |
|
|
IGL02000:Cd101
|
APN |
3 |
100,919,398 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02178:Cd101
|
APN |
3 |
100,901,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02224:Cd101
|
APN |
3 |
100,924,318 (GRCm39) |
missense |
probably benign |
|
|
IGL02450:Cd101
|
APN |
3 |
100,901,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02502:Cd101
|
APN |
3 |
100,919,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02536:Cd101
|
APN |
3 |
100,910,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02749:Cd101
|
APN |
3 |
100,927,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02818:Cd101
|
APN |
3 |
100,919,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02829:Cd101
|
APN |
3 |
100,925,881 (GRCm39) |
splice site |
probably benign |
|
|
IGL02902:Cd101
|
APN |
3 |
100,926,310 (GRCm39) |
splice site |
probably benign |
|
|
tax_day
|
UTSW |
3 |
100,911,021 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0069:Cd101
|
UTSW |
3 |
100,915,533 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0069:Cd101
|
UTSW |
3 |
100,915,533 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0411:Cd101
|
UTSW |
3 |
100,925,843 (GRCm39) |
splice site |
probably null |
|
|
R0486:Cd101
|
UTSW |
3 |
100,915,408 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0556:Cd101
|
UTSW |
3 |
100,927,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0966:Cd101
|
UTSW |
3 |
100,915,538 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1344:Cd101
|
UTSW |
3 |
100,926,091 (GRCm39) |
nonsense |
probably null |
|
|
R1418:Cd101
|
UTSW |
3 |
100,926,091 (GRCm39) |
nonsense |
probably null |
|
|
R1547:Cd101
|
UTSW |
3 |
100,926,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1551:Cd101
|
UTSW |
3 |
100,919,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1845:Cd101
|
UTSW |
3 |
100,936,764 (GRCm39) |
splice site |
probably null |
|
|
R1919:Cd101
|
UTSW |
3 |
100,926,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Cd101
|
UTSW |
3 |
100,915,377 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2260:Cd101
|
UTSW |
3 |
100,924,261 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2679:Cd101
|
UTSW |
3 |
100,901,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2873:Cd101
|
UTSW |
3 |
100,911,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3606:Cd101
|
UTSW |
3 |
100,927,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4201:Cd101
|
UTSW |
3 |
100,926,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4202:Cd101
|
UTSW |
3 |
100,926,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4205:Cd101
|
UTSW |
3 |
100,926,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4349:Cd101
|
UTSW |
3 |
100,920,630 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4574:Cd101
|
UTSW |
3 |
100,920,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4601:Cd101
|
UTSW |
3 |
100,901,204 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4820:Cd101
|
UTSW |
3 |
100,929,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4910:Cd101
|
UTSW |
3 |
100,901,205 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5014:Cd101
|
UTSW |
3 |
100,911,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5081:Cd101
|
UTSW |
3 |
100,911,021 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5396:Cd101
|
UTSW |
3 |
100,926,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5425:Cd101
|
UTSW |
3 |
100,926,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Cd101
|
UTSW |
3 |
100,927,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Cd101
|
UTSW |
3 |
100,925,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6732:Cd101
|
UTSW |
3 |
100,915,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6830:Cd101
|
UTSW |
3 |
100,901,012 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6897:Cd101
|
UTSW |
3 |
100,920,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6940:Cd101
|
UTSW |
3 |
100,911,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Cd101
|
UTSW |
3 |
100,926,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7565:Cd101
|
UTSW |
3 |
100,926,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7880:Cd101
|
UTSW |
3 |
100,915,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8121:Cd101
|
UTSW |
3 |
100,927,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8233:Cd101
|
UTSW |
3 |
100,900,989 (GRCm39) |
missense |
unknown |
|
|
R8900:Cd101
|
UTSW |
3 |
100,926,062 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8960:Cd101
|
UTSW |
3 |
100,910,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9260:Cd101
|
UTSW |
3 |
100,920,599 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9335:Cd101
|
UTSW |
3 |
100,915,431 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9663:Cd101
|
UTSW |
3 |
100,911,222 (GRCm39) |
missense |
probably benign |
0.21 |
|
X0018:Cd101
|
UTSW |
3 |
100,925,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0023:Cd101
|
UTSW |
3 |
100,926,171 (GRCm39) |
missense |
probably benign |
|
|
X0058:Cd101
|
UTSW |
3 |
100,927,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cd101
|
UTSW |
3 |
100,924,456 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Cd101
|
UTSW |
3 |
100,919,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATATGCAGCAGGACCGAGTCAC -3'
(R):5'- ATTGCCATCCAGCCTGAGCAAG -3'
Sequencing Primer
(F):5'- GGACCGAGTCACCCTGC -3'
(R):5'- GGTTACAGTGAATAACCTTCGGTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation