Incidental Mutation 'R0515:Cd96'
ID |
48198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd96
|
Ensembl Gene |
ENSMUSG00000022657 |
Gene Name |
CD96 antigen |
Synonyms |
1700109I12Rik, Tactile |
MMRRC Submission |
038709-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0515 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45856020-45940614 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 45884268 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
98% (40/41) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
App |
C |
T |
16: 84,900,232 (GRCm39) |
|
probably benign |
Het |
Arhgap11a |
G |
A |
2: 113,667,816 (GRCm39) |
T395I |
possibly damaging |
Het |
Arhgef38 |
T |
G |
3: 132,855,301 (GRCm39) |
H262P |
probably damaging |
Het |
Cfap57 |
A |
G |
4: 118,477,599 (GRCm39) |
S2P |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,599,865 (GRCm39) |
S948P |
probably benign |
Het |
Cyp3a41a |
A |
T |
5: 145,654,810 (GRCm39) |
H30Q |
probably damaging |
Het |
Dcp2 |
C |
T |
18: 44,532,798 (GRCm39) |
L105F |
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,731,703 (GRCm39) |
V887A |
possibly damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,582,408 (GRCm39) |
V515A |
probably damaging |
Het |
Gm11360 |
T |
A |
13: 28,140,143 (GRCm39) |
D2E |
probably damaging |
Het |
Gpank1 |
G |
T |
17: 35,342,475 (GRCm39) |
A149S |
probably damaging |
Het |
Gtf2i |
C |
A |
5: 134,271,773 (GRCm39) |
S792I |
probably damaging |
Het |
Hvcn1 |
A |
G |
5: 122,371,582 (GRCm39) |
N41D |
probably damaging |
Het |
Klk1b5 |
A |
G |
7: 43,867,957 (GRCm39) |
Y43C |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,111,809 (GRCm39) |
D843G |
possibly damaging |
Het |
Lrriq1 |
A |
T |
10: 102,904,829 (GRCm39) |
|
probably null |
Het |
Mapk8ip1 |
A |
T |
2: 92,217,701 (GRCm39) |
I198N |
possibly damaging |
Het |
Mill1 |
T |
C |
7: 17,998,798 (GRCm39) |
V336A |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,548,861 (GRCm39) |
M1001L |
probably benign |
Het |
Nfe2 |
T |
A |
15: 103,157,854 (GRCm39) |
T46S |
probably null |
Het |
Or8b40 |
T |
C |
9: 38,027,313 (GRCm39) |
S74P |
probably damaging |
Het |
Or9q1 |
T |
C |
19: 13,805,185 (GRCm39) |
S192G |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,851,124 (GRCm39) |
V709A |
probably damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,270,098 (GRCm39) |
Q1261L |
probably damaging |
Het |
Prl8a8 |
T |
A |
13: 27,692,350 (GRCm39) |
I214L |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,798,782 (GRCm39) |
T343M |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,005,055 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
T |
C |
6: 141,615,136 (GRCm39) |
F347S |
possibly damaging |
Het |
Sox13 |
A |
T |
1: 133,311,457 (GRCm39) |
Y592N |
probably damaging |
Het |
Synj1 |
C |
T |
16: 90,790,910 (GRCm39) |
A84T |
possibly damaging |
Het |
Tent5b |
A |
T |
4: 133,213,450 (GRCm39) |
H107L |
possibly damaging |
Het |
Trpv5 |
T |
A |
6: 41,651,145 (GRCm39) |
|
probably benign |
Het |
Tshz1 |
A |
G |
18: 84,034,090 (GRCm39) |
V106A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGACGTACAACAGACACGGAC -3'
(R):5'- TCACTGCCTACTGTAGAGCAAGCC -3'
Sequencing Primer
(F):5'- ttatttGACTCCACAGTGAGAATATG -3'
(R):5'- CCTCAATACTGGTTTGCCAGATAG -3'
|
Posted On |
2013-06-12 |