Incidental Mutation 'R7878:Cd96'
| ID |
608601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd96
|
| Ensembl Gene |
ENSMUSG00000022657 |
| Gene Name |
CD96 antigen |
| Synonyms |
1700109I12Rik, Tactile |
| MMRRC Submission |
045930-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7878 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45856020-45940614 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45938139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 109
(S109P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023336]
|
| AlphaFold |
Q3U0X8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023336
AA Change: S109P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: S109P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
A |
10: 20,857,330 (GRCm39) |
|
probably null |
Het |
| Ak7 |
T |
A |
12: 105,733,008 (GRCm39) |
I584N |
probably damaging |
Het |
| Akip1 |
A |
T |
7: 109,306,609 (GRCm39) |
Y102F |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,754,083 (GRCm39) |
Y588H |
probably benign |
Het |
| Arid1a |
A |
T |
4: 133,414,582 (GRCm39) |
N831K |
unknown |
Het |
| Bcl2l11 |
T |
A |
2: 127,970,608 (GRCm39) |
L19* |
probably null |
Het |
| Btn1a1 |
T |
C |
13: 23,643,214 (GRCm39) |
T412A |
possibly damaging |
Het |
| Ccbe1 |
T |
C |
18: 66,209,462 (GRCm39) |
N193D |
possibly damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,095,174 (GRCm39) |
S1975G |
probably benign |
Het |
| Cdh23 |
A |
C |
10: 60,149,979 (GRCm39) |
I2622S |
possibly damaging |
Het |
| Cmya5 |
G |
T |
13: 93,226,265 (GRCm39) |
T2941K |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,192,934 (GRCm39) |
Y679H |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,484,700 (GRCm39) |
V619A |
probably damaging |
Het |
| Elp5 |
T |
A |
11: 69,861,425 (GRCm39) |
I185F |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,938,917 (GRCm39) |
V55A |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,299,454 (GRCm39) |
Y985N |
probably damaging |
Het |
| Lao1 |
A |
G |
4: 118,824,619 (GRCm39) |
N234D |
probably benign |
Het |
| Lima1 |
C |
T |
15: 99,717,431 (GRCm39) |
V192I |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,338,153 (GRCm39) |
D1209A |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,338,154 (GRCm39) |
D1209Y |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,269,163 (GRCm39) |
H462R |
probably benign |
Het |
| Mab21l1 |
A |
T |
3: 55,691,438 (GRCm39) |
T342S |
probably benign |
Het |
| Mst1 |
T |
C |
9: 107,961,812 (GRCm39) |
V657A |
probably benign |
Het |
| Mtmr11 |
A |
G |
3: 96,076,515 (GRCm39) |
K490R |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,978,077 (GRCm39) |
D383G |
probably damaging |
Het |
| Nectin1 |
G |
A |
9: 43,715,198 (GRCm39) |
G478D |
probably benign |
Het |
| Nrip1 |
A |
G |
16: 76,091,554 (GRCm39) |
M1T |
probably null |
Het |
| Odad1 |
A |
G |
7: 45,573,984 (GRCm39) |
E17G |
possibly damaging |
Het |
| Odad2 |
G |
T |
18: 7,217,801 (GRCm39) |
H638N |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,267,145 (GRCm39) |
D119G |
probably damaging |
Het |
| Or52z15 |
A |
T |
7: 103,332,471 (GRCm39) |
H182L |
probably damaging |
Het |
| Pnisr |
C |
A |
4: 21,874,370 (GRCm39) |
F704L |
unknown |
Het |
| Ptpn21 |
T |
A |
12: 98,681,387 (GRCm39) |
K82N |
probably damaging |
Het |
| Pyroxd2 |
T |
G |
19: 42,731,104 (GRCm39) |
|
probably null |
Het |
| Pzp |
A |
G |
6: 128,489,274 (GRCm39) |
S446P |
possibly damaging |
Het |
| Rbck1 |
T |
A |
2: 152,160,330 (GRCm39) |
I450F |
probably damaging |
Het |
| Rnase4 |
T |
A |
14: 51,342,333 (GRCm39) |
L19Q |
probably damaging |
Het |
| Rrp9 |
A |
G |
9: 106,358,516 (GRCm39) |
E118G |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,168,005 (GRCm39) |
S169P |
probably benign |
Het |
| Sema5b |
G |
A |
16: 35,481,996 (GRCm39) |
S957N |
probably benign |
Het |
| Serpina3g |
A |
T |
12: 104,204,361 (GRCm39) |
|
probably benign |
Het |
| Skint2 |
A |
T |
4: 112,506,942 (GRCm39) |
I322F |
possibly damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,119,856 (GRCm39) |
R4385W |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,469,460 (GRCm39) |
C4471Y |
probably damaging |
Het |
| Stk16 |
T |
A |
1: 75,189,589 (GRCm39) |
L167* |
probably null |
Het |
| Tanc2 |
G |
A |
11: 105,804,241 (GRCm39) |
R245H |
|
Het |
| Tdpoz1 |
G |
A |
3: 93,578,431 (GRCm39) |
Q118* |
probably null |
Het |
| Tekt3 |
C |
T |
11: 62,961,277 (GRCm39) |
R149* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,501,564 (GRCm39) |
E1256G |
probably damaging |
Het |
| Tie1 |
G |
A |
4: 118,335,621 (GRCm39) |
R791C |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,299,411 (GRCm39) |
S1204T |
possibly damaging |
Het |
| Trim28 |
G |
T |
7: 12,758,289 (GRCm39) |
|
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,024,521 (GRCm39) |
N282S |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,640,300 (GRCm39) |
D1402E |
possibly damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,717 (GRCm39) |
T5S |
probably benign |
Het |
| Zfyve28 |
T |
A |
5: 34,356,999 (GRCm39) |
K733M |
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 |
|
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 |
|
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'- CCAAATGTAGACAGTGTCTGCTG -3'
(R):5'- GTTCTGACATCAACTTGACCTGC -3'
Sequencing Primer
(F):5'- GCTGTCTTCGTGTATTCACTAAATG -3'
(R):5'- GGAGAAAAACTTCTTGGTACAGATGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation