Incidental Mutation 'R0684:Cd96'
| ID |
218637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd96
|
| Ensembl Gene |
ENSMUSG00000022657 |
| Gene Name |
CD96 antigen |
| Synonyms |
1700109I12Rik, Tactile |
| MMRRC Submission |
038869-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0684 (G1)
|
| Quality Score |
69 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45856020-45940614 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45938153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 104
(Y104C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023336]
|
| AlphaFold |
Q3U0X8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023336
AA Change: Y104C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: Y104C
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.1%
- 20x: 88.8%
|
| Validation Efficiency |
100% (69/69) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,466,428 (GRCm39) |
L731H |
probably damaging |
Het |
| Adora2b |
C |
T |
11: 62,139,995 (GRCm39) |
A23V |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,411,857 (GRCm39) |
I1336V |
probably damaging |
Het |
| Asxl1 |
G |
A |
2: 153,239,442 (GRCm39) |
R410H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,260,593 (GRCm39) |
E419G |
probably benign |
Het |
| Atxn1l |
A |
T |
8: 110,459,016 (GRCm39) |
N415K |
probably damaging |
Het |
| Bcl2l12 |
T |
A |
7: 44,646,025 (GRCm39) |
T65S |
probably benign |
Het |
| Bdh2 |
A |
G |
3: 134,996,774 (GRCm39) |
I90V |
probably benign |
Het |
| Bsph1 |
T |
A |
7: 13,206,988 (GRCm39) |
N121K |
probably damaging |
Het |
| Chdh |
T |
C |
14: 29,753,570 (GRCm39) |
W160R |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,393,365 (GRCm39) |
F193L |
probably damaging |
Het |
| Copz1 |
A |
G |
15: 103,204,958 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
T |
C |
19: 39,379,500 (GRCm39) |
T450A |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,751 (GRCm39) |
I253K |
probably benign |
Het |
| Dhrs13 |
G |
T |
11: 77,927,789 (GRCm39) |
A212S |
probably damaging |
Het |
| Ecsit |
T |
C |
9: 21,987,796 (GRCm39) |
N81S |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
| Emid1 |
T |
C |
11: 5,093,866 (GRCm39) |
R92G |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,941 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,432,893 (GRCm39) |
|
probably null |
Het |
| Hsd17b3 |
T |
C |
13: 64,236,882 (GRCm39) |
M21V |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,718,849 (GRCm39) |
V1176A |
probably benign |
Het |
| Midn |
A |
G |
10: 79,992,336 (GRCm39) |
K463E |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 102,996,631 (GRCm39) |
E103G |
probably damaging |
Het |
| Muc15 |
A |
G |
2: 110,564,160 (GRCm39) |
N232S |
possibly damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,294,875 (GRCm39) |
E15V |
probably damaging |
Het |
| Or10a5 |
A |
T |
7: 106,635,889 (GRCm39) |
N176Y |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,735 (GRCm39) |
K229R |
probably benign |
Het |
| Or52n2b |
T |
A |
7: 104,565,841 (GRCm39) |
T221S |
probably benign |
Het |
| Pate14 |
C |
T |
9: 36,549,176 (GRCm39) |
G28E |
probably benign |
Het |
| Pigf |
A |
T |
17: 87,327,923 (GRCm39) |
F115I |
probably benign |
Het |
| Prpsap1 |
A |
T |
11: 116,362,317 (GRCm39) |
V355E |
probably damaging |
Het |
| Ptprk |
G |
T |
10: 28,359,294 (GRCm39) |
|
probably benign |
Het |
| Rae1 |
G |
A |
2: 172,846,957 (GRCm39) |
R67H |
probably damaging |
Het |
| Sema3a |
G |
A |
5: 13,606,494 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,126,758 (GRCm39) |
T104A |
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,593,168 (GRCm39) |
L137* |
probably null |
Het |
| Smgc |
A |
G |
15: 91,725,670 (GRCm39) |
|
probably benign |
Het |
| Syce3 |
A |
G |
15: 89,274,648 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
T |
A |
7: 107,024,343 (GRCm39) |
W79R |
probably damaging |
Het |
| Tgoln1 |
A |
C |
6: 72,592,974 (GRCm39) |
S169A |
probably benign |
Het |
| Thnsl1 |
A |
G |
2: 21,216,477 (GRCm39) |
D77G |
probably benign |
Het |
| Tsr1 |
T |
A |
11: 74,798,767 (GRCm39) |
V712E |
probably damaging |
Het |
| Wdr12 |
C |
T |
1: 60,128,525 (GRCm39) |
|
probably benign |
Het |
| Xdh |
T |
A |
17: 74,250,886 (GRCm39) |
N22I |
probably damaging |
Het |
| Zfp3 |
T |
A |
11: 70,662,395 (GRCm39) |
L118Q |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,687,623 (GRCm39) |
N883D |
probably benign |
Het |
| Zfp609 |
T |
A |
9: 65,638,483 (GRCm39) |
M250L |
probably benign |
Het |
| Zfp94 |
A |
T |
7: 24,002,495 (GRCm39) |
S316T |
probably damaging |
Het |
| Zfp955b |
A |
G |
17: 33,521,947 (GRCm39) |
N472S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGACCATTTCCCTGGACTCTGC -3'
(R):5'- TGGTTCTGACATCAACTTGACCTGC -3'
Sequencing Primer
(F):5'- AGTGCTACTTCCCTTATTAGACAGTG -3'
(R):5'- TTGACCTGCCAAACAAAGGAG -3'
|
| Posted On |
2014-08-18 |
Incidental Mutation