Incidental Mutation 'IGL00916:Cd96'
| ID |
29138 |
| 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 # |
IGL00916
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
45856020-45940614 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45861675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 505
(E505G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023336]
|
| AlphaFold |
Q3U0X8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023336
AA Change: E505G
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: E505G
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,075,851 (GRCm39) |
Q762L |
probably benign |
Het |
| Aldh1a1 |
T |
C |
19: 20,597,361 (GRCm39) |
V114A |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,833,960 (GRCm39) |
I459V |
probably benign |
Het |
| Atad5 |
C |
T |
11: 80,009,826 (GRCm39) |
P1199S |
probably damaging |
Het |
| Bmp10 |
T |
C |
6: 87,406,142 (GRCm39) |
F43S |
possibly damaging |
Het |
| Eapp |
T |
C |
12: 54,739,593 (GRCm39) |
T75A |
possibly damaging |
Het |
| Emilin1 |
T |
C |
5: 31,071,246 (GRCm39) |
Y10H |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,284,612 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,113,923 (GRCm39) |
I1089V |
possibly damaging |
Het |
| H6pd |
C |
A |
4: 150,078,925 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
T |
3: 59,238,548 (GRCm39) |
F544L |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,450,915 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ilrun |
A |
G |
17: 27,986,893 (GRCm39) |
Y278H |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,452,389 (GRCm39) |
E287G |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,461,252 (GRCm39) |
D735G |
probably damaging |
Het |
| Mast2 |
A |
T |
4: 116,184,830 (GRCm39) |
M240K |
possibly damaging |
Het |
| Mreg |
T |
A |
1: 72,203,291 (GRCm39) |
T96S |
probably benign |
Het |
| Mta2 |
A |
T |
19: 8,924,465 (GRCm39) |
M220L |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,528,719 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,297,939 (GRCm39) |
N699I |
probably damaging |
Het |
| Ncapg |
T |
G |
5: 45,828,534 (GRCm39) |
I95S |
probably benign |
Het |
| Ndufa13 |
A |
G |
8: 70,347,069 (GRCm39) |
|
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,411,130 (GRCm39) |
|
probably benign |
Het |
| Parp8 |
T |
A |
13: 117,063,859 (GRCm39) |
I85F |
probably damaging |
Het |
| Rgs2 |
T |
A |
1: 143,877,967 (GRCm39) |
I78F |
probably damaging |
Het |
| Rpia |
C |
T |
6: 70,752,086 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
T |
C |
10: 42,688,453 (GRCm39) |
S488P |
possibly damaging |
Het |
| Tfcp2 |
T |
G |
15: 100,418,559 (GRCm39) |
H201P |
probably damaging |
Het |
| Tnfaip2 |
T |
G |
12: 111,419,983 (GRCm39) |
I705R |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,960,054 (GRCm39) |
N554S |
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,940,877 (GRCm39) |
S351P |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,737,397 (GRCm39) |
N264Y |
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 |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation