Incidental Mutation 'IGL01080:Cd96'
| ID |
52892 |
| 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 # |
IGL01080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
45856020-45940614 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45870056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 471
(E471G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023336]
|
| AlphaFold |
Q3U0X8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023336
AA Change: E471G
PolyPhen 2
Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: E471G
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,984,258 (GRCm39) |
R663W |
probably damaging |
Het |
| Cacng5 |
A |
T |
11: 107,768,754 (GRCm39) |
F179L |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Cpt1c |
T |
C |
7: 44,610,333 (GRCm39) |
D621G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,744,799 (GRCm39) |
I1503V |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,840,286 (GRCm39) |
|
probably benign |
Het |
| Flg |
A |
T |
3: 93,186,906 (GRCm39) |
K119N |
probably benign |
Het |
| Gale |
T |
C |
4: 135,693,389 (GRCm39) |
Y104H |
probably damaging |
Het |
| Gm8005 |
T |
C |
14: 42,258,971 (GRCm39) |
D119G |
unknown |
Het |
| Gstk1 |
A |
T |
6: 42,223,560 (GRCm39) |
D50V |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,720,389 (GRCm39) |
D3866G |
unknown |
Het |
| Mastl |
A |
G |
2: 23,036,160 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2aj4 |
A |
T |
16: 19,384,958 (GRCm39) |
V225E |
probably damaging |
Het |
| Phf11c |
G |
A |
14: 59,630,648 (GRCm39) |
T19I |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,599,092 (GRCm39) |
T355A |
probably damaging |
Het |
| Prmt7 |
T |
G |
8: 106,963,846 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,596,895 (GRCm39) |
T44A |
probably damaging |
Het |
| Rangap1 |
C |
T |
15: 81,589,953 (GRCm39) |
|
probably benign |
Het |
| Slc27a3 |
A |
T |
3: 90,292,767 (GRCm39) |
V634E |
probably benign |
Het |
| Tbxas1 |
T |
A |
6: 38,998,115 (GRCm39) |
L228I |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,887,403 (GRCm39) |
K41E |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,824,379 (GRCm39) |
V1025I |
probably damaging |
Het |
| Tyrobp |
T |
C |
7: 30,116,841 (GRCm39) |
|
probably null |
Het |
| Wfdc16 |
A |
T |
2: 164,480,406 (GRCm39) |
W30R |
probably damaging |
Het |
| Zyg11b |
A |
T |
4: 108,094,613 (GRCm39) |
L657Q |
probably 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 |
|
IGL01538:Cd96
|
APN |
16 |
45,929,490 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02350:Cd96
|
APN |
16 |
45,890,139 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-06-21 |
Incidental Mutation