Incidental Mutation 'R6002:Cd96'
| ID |
478440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd96
|
| Ensembl Gene |
ENSMUSG00000022657 |
| Gene Name |
CD96 antigen |
| Synonyms |
1700109I12Rik, Tactile |
| MMRRC Submission |
044181-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6002 (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 T
at 45938349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 39
(S39T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023336]
|
| AlphaFold |
Q3U0X8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023336
AA Change: S39T
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: S39T
| 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: 99.8%
- 3x: 99.4%
- 10x: 96.6%
- 20x: 88.5%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,492,768 (GRCm39) |
|
probably null |
Het |
| Adam28 |
A |
G |
14: 68,879,511 (GRCm39) |
L179P |
probably benign |
Het |
| Amer2 |
G |
T |
14: 60,616,231 (GRCm39) |
G142V |
possibly damaging |
Het |
| Ap2a1 |
A |
G |
7: 44,553,819 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
A |
G |
9: 32,168,275 (GRCm39) |
T753A |
probably benign |
Het |
| Capsl |
A |
G |
15: 9,461,874 (GRCm39) |
D90G |
probably damaging |
Het |
| Cdx2 |
T |
A |
5: 147,240,044 (GRCm39) |
T211S |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,705,515 (GRCm39) |
Y251C |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,774 (GRCm39) |
V368I |
probably benign |
Het |
| Coro1a |
G |
T |
7: 126,302,252 (GRCm39) |
Q32K |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,211,914 (GRCm39) |
V694E |
possibly damaging |
Het |
| Eif3h |
A |
G |
15: 51,662,672 (GRCm39) |
Y125H |
probably benign |
Het |
| Fbxw22 |
A |
C |
9: 109,210,750 (GRCm39) |
Y420* |
probably null |
Het |
| Fgf21 |
T |
C |
7: 45,264,651 (GRCm39) |
Y27C |
probably benign |
Het |
| Gm7356 |
A |
G |
17: 14,221,001 (GRCm39) |
S343P |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,321 (GRCm39) |
D3305G |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,811,121 (GRCm39) |
T321A |
possibly damaging |
Het |
| Kdm4c |
T |
A |
4: 74,323,206 (GRCm39) |
F1046Y |
possibly damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,114 (GRCm39) |
W94R |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,962,143 (GRCm39) |
M576L |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,063 (GRCm39) |
H316R |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,784,633 (GRCm39) |
V39E |
probably damaging |
Het |
| Or5b122 |
T |
C |
19: 13,562,781 (GRCm39) |
|
probably benign |
Het |
| Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,645 (GRCm39) |
V1184D |
probably damaging |
Het |
| Pcyox1 |
T |
A |
6: 86,369,164 (GRCm39) |
M152L |
probably benign |
Het |
| Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,914,247 (GRCm39) |
I328L |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,895 (GRCm39) |
F814L |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,571,337 (GRCm39) |
H640L |
probably benign |
Het |
| Prl5a1 |
T |
C |
13: 28,329,465 (GRCm39) |
I48T |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,363,614 (GRCm39) |
T132A |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,203 (GRCm39) |
I146V |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,499,460 (GRCm39) |
Y306C |
probably damaging |
Het |
| Stat3 |
A |
G |
11: 100,794,569 (GRCm39) |
S247P |
probably benign |
Het |
| Tbc1d1 |
C |
A |
5: 64,490,776 (GRCm39) |
L747I |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,402,761 (GRCm39) |
M1K |
probably null |
Het |
| Vezt |
A |
C |
10: 93,836,336 (GRCm39) |
V104G |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,351,397 (GRCm39) |
D170G |
probably damaging |
Het |
| Zswim2 |
C |
A |
2: 83,746,032 (GRCm39) |
D469Y |
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 |
|
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'- TCTCAGTTTCTGTGGCAGCC -3'
(R):5'- CCATCAGTGACCCTCAGTTAC -3'
Sequencing Primer
(F):5'- CACTTGTGACTCACAGGCATG -3'
(R):5'- GACCCTCAGTTACTTTTTGGACAGAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation