Incidental Mutation 'R1125:Cd226'
| ID |
96102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd226
|
| Ensembl Gene |
ENSMUSG00000034028 |
| Gene Name |
CD226 antigen |
| Synonyms |
DNAM1, DNAM-1, TLiSA1, Pta1 |
| MMRRC Submission |
039198-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1125 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
89195091-89290353 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89286046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 172
(I172V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037142]
[ENSMUST00000097496]
|
| AlphaFold |
Q8K4F0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037142
AA Change: I285V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043551
Gene: ENSMUSG00000034028
AA Change: I285V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
22 |
126 |
4.46e-1 |
SMART |
|
IG
|
138 |
243 |
9.26e-8 |
SMART |
|
transmembrane domain
|
252 |
274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097496
AA Change: I172V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095104
Gene: ENSMUSG00000034028
AA Change: I172V
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
25 |
130 |
9.26e-8 |
SMART |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and increased incidence of tumor formation and mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,898,378 (GRCm39) |
I254T |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,875,282 (GRCm39) |
D630G |
possibly damaging |
Het |
| Anks4b |
T |
G |
7: 119,781,580 (GRCm39) |
F204V |
possibly damaging |
Het |
| Bltp3a |
T |
C |
17: 28,112,423 (GRCm39) |
V1204A |
probably damaging |
Het |
| C87436 |
T |
C |
6: 86,424,344 (GRCm39) |
V282A |
probably benign |
Het |
| Cav3 |
T |
A |
6: 112,449,257 (GRCm39) |
F92I |
probably damaging |
Het |
| Cbs |
A |
T |
17: 31,851,805 (GRCm39) |
V66E |
probably benign |
Het |
| Cimip2b |
A |
G |
4: 43,427,550 (GRCm39) |
I258T |
probably damaging |
Het |
| Ctns |
C |
A |
11: 73,078,663 (GRCm39) |
|
probably null |
Het |
| Gid4 |
A |
G |
11: 60,315,607 (GRCm39) |
D66G |
possibly damaging |
Het |
| Glra3 |
A |
G |
8: 56,492,789 (GRCm39) |
D163G |
possibly damaging |
Het |
| Lrrc23 |
A |
G |
6: 124,753,145 (GRCm39) |
V167A |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,764,427 (GRCm39) |
L1979* |
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Necab1 |
T |
A |
4: 15,111,257 (GRCm39) |
D57V |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,277,214 (GRCm39) |
T160S |
possibly damaging |
Het |
| Plekhd1 |
C |
A |
12: 80,753,998 (GRCm39) |
Q155K |
possibly damaging |
Het |
| Ppara |
A |
G |
15: 85,673,256 (GRCm39) |
N149S |
possibly damaging |
Het |
| Slc30a5 |
C |
T |
13: 100,939,921 (GRCm39) |
V665M |
probably damaging |
Het |
| Sntb1 |
T |
G |
15: 55,612,676 (GRCm39) |
T301P |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,801,457 (GRCm39) |
T240S |
probably benign |
Het |
| Ttc5 |
A |
G |
14: 51,015,335 (GRCm39) |
L92P |
probably damaging |
Het |
| Ttll10 |
A |
G |
4: 156,119,495 (GRCm39) |
S664P |
possibly damaging |
Het |
| Vmn2r45 |
G |
A |
7: 8,488,542 (GRCm39) |
R163C |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,717 (GRCm39) |
I231M |
probably damaging |
Het |
|
| Other mutations in Cd226 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01682:Cd226
|
APN |
18 |
89,287,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02292:Cd226
|
APN |
18 |
89,225,216 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02298:Cd226
|
APN |
18 |
89,225,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Cd226
|
APN |
18 |
89,225,451 (GRCm39) |
missense |
probably benign |
|
|
R0179:Cd226
|
UTSW |
18 |
89,225,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0558:Cd226
|
UTSW |
18 |
89,225,338 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0602:Cd226
|
UTSW |
18 |
89,287,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0744:Cd226
|
UTSW |
18 |
89,225,144 (GRCm39) |
intron |
probably benign |
|
|
R0833:Cd226
|
UTSW |
18 |
89,225,144 (GRCm39) |
intron |
probably benign |
|
|
R1352:Cd226
|
UTSW |
18 |
89,265,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Cd226
|
UTSW |
18 |
89,265,147 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1370:Cd226
|
UTSW |
18 |
89,265,147 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1998:Cd226
|
UTSW |
18 |
89,225,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Cd226
|
UTSW |
18 |
89,265,435 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2006:Cd226
|
UTSW |
18 |
89,265,435 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2045:Cd226
|
UTSW |
18 |
89,225,486 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2354:Cd226
|
UTSW |
18 |
89,265,107 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2518:Cd226
|
UTSW |
18 |
89,225,451 (GRCm39) |
missense |
probably benign |
|
|
R4603:Cd226
|
UTSW |
18 |
89,225,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Cd226
|
UTSW |
18 |
89,225,292 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5964:Cd226
|
UTSW |
18 |
89,225,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5999:Cd226
|
UTSW |
18 |
89,225,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Cd226
|
UTSW |
18 |
89,265,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7456:Cd226
|
UTSW |
18 |
89,224,747 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7509:Cd226
|
UTSW |
18 |
89,265,195 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7714:Cd226
|
UTSW |
18 |
89,265,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Cd226
|
UTSW |
18 |
89,287,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9561:Cd226
|
UTSW |
18 |
89,265,444 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9651:Cd226
|
UTSW |
18 |
89,265,395 (GRCm39) |
nonsense |
probably null |
|
|
X0024:Cd226
|
UTSW |
18 |
89,281,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCTTTTCCTTCTATGAGCACACGA -3'
(R):5'- AGCTACTTGGTACTTGAATCACAAGCAA -3'
Sequencing Primer
(F):5'- aaacaaaaatcacacccagaaataag -3'
(R):5'- acaccagaagagagcatcag -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation