Incidental Mutation 'IGL02350:Cd96'
ID |
289762 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cd96
|
Ensembl Gene |
ENSMUSG00000022657 |
Gene Name |
CD96 antigen |
Synonyms |
1700109I12Rik, Tactile |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02350
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
45856020-45940614 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 45890139 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023336]
|
AlphaFold |
Q3U0X8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023336
|
SMART Domains |
Protein: ENSMUSP00000023336 Gene: ENSMUSG00000022657
Domain | Start | End | E-Value | Type |
IG
|
30 |
137 |
1.63e-3 |
SMART |
IG
|
145 |
247 |
1.12e-1 |
SMART |
Blast:IG_like
|
257 |
357 |
3e-14 |
BLAST |
low complexity region
|
434 |
448 |
N/A |
INTRINSIC |
transmembrane domain
|
535 |
557 |
N/A |
INTRINSIC |
low complexity region
|
571 |
580 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
Adamts16 |
T |
A |
13: 70,886,704 (GRCm39) |
T1029S |
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,418,974 (GRCm39) |
C6007F |
probably benign |
Het |
Ak8 |
A |
T |
2: 28,590,225 (GRCm39) |
H8L |
probably benign |
Het |
Apol7b |
A |
G |
15: 77,307,832 (GRCm39) |
V221A |
probably benign |
Het |
BC005624 |
G |
A |
2: 30,863,779 (GRCm39) |
P235S |
probably benign |
Het |
Celf1 |
A |
T |
2: 90,828,933 (GRCm39) |
K27I |
probably damaging |
Het |
Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
Cyp3a59 |
T |
C |
5: 146,016,152 (GRCm39) |
L3P |
probably damaging |
Het |
Dnajc13 |
T |
C |
9: 104,039,558 (GRCm39) |
M2104V |
possibly damaging |
Het |
Dph3b-ps |
A |
G |
13: 106,683,453 (GRCm39) |
|
noncoding transcript |
Het |
Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,237,067 (GRCm39) |
N645K |
possibly damaging |
Het |
Fes |
T |
C |
7: 80,033,578 (GRCm39) |
|
probably null |
Het |
Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
Gckr |
C |
A |
5: 31,465,134 (GRCm39) |
H368N |
possibly damaging |
Het |
Gm5145 |
A |
T |
17: 20,790,702 (GRCm39) |
I27F |
probably damaging |
Het |
Hecw1 |
A |
G |
13: 14,422,923 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
G |
4: 119,980,222 (GRCm39) |
C1753W |
probably damaging |
Het |
Hook2 |
C |
T |
8: 85,721,614 (GRCm39) |
Q291* |
probably null |
Het |
Jakmip2 |
T |
C |
18: 43,680,192 (GRCm39) |
T722A |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
Ngdn |
T |
A |
14: 55,259,393 (GRCm39) |
V179E |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
Or10am5 |
T |
A |
7: 6,518,225 (GRCm39) |
M68L |
probably damaging |
Het |
Or2b7 |
A |
G |
13: 21,739,772 (GRCm39) |
L140P |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
Plcb3 |
A |
C |
19: 6,935,546 (GRCm39) |
L789R |
probably damaging |
Het |
Plek |
C |
T |
11: 16,931,846 (GRCm39) |
R335H |
probably damaging |
Het |
Pmp22 |
G |
T |
11: 63,049,134 (GRCm39) |
V126F |
probably benign |
Het |
Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
Rusc2 |
T |
G |
4: 43,425,351 (GRCm39) |
V1152G |
possibly damaging |
Het |
Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
Slc22a22 |
A |
G |
15: 57,110,844 (GRCm39) |
V461A |
probably benign |
Het |
Slc35e4 |
C |
T |
11: 3,862,640 (GRCm39) |
R183Q |
probably benign |
Het |
Spen |
T |
C |
4: 141,204,890 (GRCm39) |
T1246A |
unknown |
Het |
Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,539,963 (GRCm39) |
V34341A |
probably benign |
Het |
Vxn |
T |
C |
1: 9,683,544 (GRCm39) |
I44T |
possibly damaging |
Het |
Wwox |
T |
C |
8: 115,438,882 (GRCm39) |
V316A |
possibly damaging |
Het |
|
Other mutations in Cd96 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Cd96
|
APN |
16 |
45,892,162 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL00588:Cd96
|
APN |
16 |
45,858,917 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00916:Cd96
|
APN |
16 |
45,861,675 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01080:Cd96
|
APN |
16 |
45,870,056 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01538:Cd96
|
APN |
16 |
45,929,490 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02357:Cd96
|
APN |
16 |
45,890,139 (GRCm39) |
splice site |
probably benign |
|
IGL02892:Cd96
|
APN |
16 |
45,870,160 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0119:Cd96
|
UTSW |
16 |
45,858,942 (GRCm39) |
splice site |
probably benign |
|
R0242:Cd96
|
UTSW |
16 |
45,892,129 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0242:Cd96
|
UTSW |
16 |
45,892,129 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0515:Cd96
|
UTSW |
16 |
45,884,268 (GRCm39) |
splice site |
probably benign |
|
R0655:Cd96
|
UTSW |
16 |
45,919,482 (GRCm39) |
missense |
probably benign |
0.06 |
R0684:Cd96
|
UTSW |
16 |
45,938,153 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0838:Cd96
|
UTSW |
16 |
45,938,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R1531:Cd96
|
UTSW |
16 |
45,938,169 (GRCm39) |
missense |
probably benign |
0.03 |
R1664:Cd96
|
UTSW |
16 |
45,938,364 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1791:Cd96
|
UTSW |
16 |
45,938,362 (GRCm39) |
nonsense |
probably null |
|
R1840:Cd96
|
UTSW |
16 |
45,919,455 (GRCm39) |
missense |
probably benign |
0.36 |
R1873:Cd96
|
UTSW |
16 |
45,938,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R2895:Cd96
|
UTSW |
16 |
45,938,168 (GRCm39) |
missense |
probably benign |
0.43 |
R2906:Cd96
|
UTSW |
16 |
45,871,850 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4291:Cd96
|
UTSW |
16 |
45,892,112 (GRCm39) |
missense |
probably damaging |
0.98 |
R5112:Cd96
|
UTSW |
16 |
45,919,301 (GRCm39) |
missense |
probably benign |
|
R5261:Cd96
|
UTSW |
16 |
45,890,016 (GRCm39) |
missense |
probably benign |
0.39 |
R5274:Cd96
|
UTSW |
16 |
45,890,066 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5934:Cd96
|
UTSW |
16 |
45,938,266 (GRCm39) |
missense |
probably benign |
0.43 |
R6002:Cd96
|
UTSW |
16 |
45,938,349 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6758:Cd96
|
UTSW |
16 |
45,938,367 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6992:Cd96
|
UTSW |
16 |
45,870,087 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7239:Cd96
|
UTSW |
16 |
45,929,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R7308:Cd96
|
UTSW |
16 |
45,892,097 (GRCm39) |
critical splice donor site |
probably null |
|
R7316:Cd96
|
UTSW |
16 |
45,890,016 (GRCm39) |
missense |
probably benign |
0.39 |
R7355:Cd96
|
UTSW |
16 |
45,861,655 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7553:Cd96
|
UTSW |
16 |
45,872,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R7878:Cd96
|
UTSW |
16 |
45,938,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R7921:Cd96
|
UTSW |
16 |
45,858,843 (GRCm39) |
frame shift |
probably null |
|
R8924:Cd96
|
UTSW |
16 |
45,919,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R9089:Cd96
|
UTSW |
16 |
45,870,068 (GRCm39) |
missense |
probably benign |
0.23 |
R9295:Cd96
|
UTSW |
16 |
45,938,244 (GRCm39) |
missense |
probably benign |
0.38 |
R9433:Cd96
|
UTSW |
16 |
45,856,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R9695:Cd96
|
UTSW |
16 |
45,919,410 (GRCm39) |
missense |
probably damaging |
0.96 |
X0017:Cd96
|
UTSW |
16 |
45,870,137 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2015-04-16 |