Incidental Mutation 'R4291:Cd96'
ID |
323084 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd96
|
Ensembl Gene |
ENSMUSG00000022657 |
Gene Name |
CD96 antigen |
Synonyms |
1700109I12Rik, Tactile |
MMRRC Submission |
041081-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4291 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45856020-45940614 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 45892112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 292
(Q292L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023336]
|
AlphaFold |
Q3U0X8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023336
AA Change: Q292L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023336 Gene: ENSMUSG00000022657 AA Change: Q292L
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (62/62) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
C |
3: 36,120,337 (GRCm39) |
F27S |
probably benign |
Het |
AK157302 |
T |
A |
13: 21,679,715 (GRCm39) |
D80E |
probably damaging |
Het |
Amz2 |
T |
C |
11: 109,324,881 (GRCm39) |
|
probably null |
Het |
Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
Ankrd34c |
T |
A |
9: 89,611,817 (GRCm39) |
K175* |
probably null |
Het |
Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
Brpf3 |
G |
A |
17: 29,042,949 (GRCm39) |
V997M |
probably benign |
Het |
Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
Cdh18 |
C |
A |
15: 22,714,637 (GRCm39) |
|
probably benign |
Het |
Cfb |
T |
G |
17: 35,080,114 (GRCm39) |
D122A |
possibly damaging |
Het |
Copa |
G |
T |
1: 171,919,964 (GRCm39) |
|
probably benign |
Het |
Ctnna2 |
T |
A |
6: 76,859,728 (GRCm39) |
K854N |
probably damaging |
Het |
Cwh43 |
G |
A |
5: 73,569,275 (GRCm39) |
V106M |
probably benign |
Het |
Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,967,533 (GRCm39) |
S2582P |
probably benign |
Het |
Eef2 |
A |
G |
10: 81,015,414 (GRCm39) |
T312A |
probably benign |
Het |
Enpep |
T |
A |
3: 129,063,966 (GRCm39) |
R934* |
probably null |
Het |
Fam240b |
A |
T |
13: 64,629,627 (GRCm39) |
M63K |
possibly damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
Gsn |
G |
A |
2: 35,180,432 (GRCm39) |
V147I |
probably benign |
Het |
Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
Hectd3 |
A |
G |
4: 116,852,889 (GRCm39) |
E97G |
probably damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Krba1 |
C |
T |
6: 48,392,599 (GRCm39) |
P802S |
possibly damaging |
Het |
Lca5l |
C |
T |
16: 95,979,974 (GRCm39) |
S52N |
probably damaging |
Het |
Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
Map3k4 |
G |
T |
17: 12,474,147 (GRCm39) |
Q845K |
probably benign |
Het |
Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
Mcm9 |
C |
A |
10: 53,423,668 (GRCm39) |
M677I |
probably benign |
Het |
Mkrn2 |
A |
G |
6: 115,594,395 (GRCm39) |
T369A |
possibly damaging |
Het |
Mthfr |
C |
A |
4: 148,139,949 (GRCm39) |
N623K |
probably damaging |
Het |
Myh2 |
T |
C |
11: 67,071,985 (GRCm39) |
V571A |
probably benign |
Het |
Nom1 |
G |
A |
5: 29,651,370 (GRCm39) |
|
probably null |
Het |
Nucb1 |
T |
A |
7: 45,144,704 (GRCm39) |
D283V |
probably damaging |
Het |
Or12e8 |
G |
A |
2: 87,188,419 (GRCm39) |
M210I |
probably benign |
Het |
Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
Pcdhb1 |
A |
C |
18: 37,398,470 (GRCm39) |
L140F |
probably damaging |
Het |
Ptgs2 |
G |
A |
1: 149,976,002 (GRCm39) |
A10T |
probably benign |
Het |
Rfx3 |
C |
T |
19: 27,777,632 (GRCm39) |
R497Q |
probably damaging |
Het |
Rps6kb1 |
A |
T |
11: 86,410,702 (GRCm39) |
|
probably benign |
Het |
Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
Tet3 |
T |
C |
6: 83,350,181 (GRCm39) |
T961A |
probably damaging |
Het |
Ttc27 |
T |
C |
17: 75,163,474 (GRCm39) |
L694P |
probably damaging |
Het |
Vmn1r238 |
G |
A |
18: 3,123,214 (GRCm39) |
Q67* |
probably null |
Het |
Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
Vwf |
A |
T |
6: 125,619,285 (GRCm39) |
Y1321F |
probably damaging |
Het |
Wfdc1 |
C |
A |
8: 120,406,194 (GRCm39) |
P103Q |
probably damaging |
Het |
Zfp488 |
C |
A |
14: 33,692,851 (GRCm39) |
C104F |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAAATGTTGCCTTCTACCCC -3'
(R):5'- AAAGCCCTTGTGTGTCCTGTG -3'
Sequencing Primer
(F):5'- TTCTACCCCCTTGGAGGAACAAG -3'
(R):5'- TCCTGTGCTCGGGTAAAGGTAAAC -3'
|
Posted On |
2015-06-20 |