Incidental Mutation 'IGL02292:Cd226'
| ID |
290078 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd226
|
| Ensembl Gene |
ENSMUSG00000034028 |
| Gene Name |
CD226 antigen |
| Synonyms |
DNAM1, DNAM-1, TLiSA1, Pta1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
89195091-89290353 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89225216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 38
(V38I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037142]
[ENSMUST00000097496]
|
| AlphaFold |
Q8K4F0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037142
AA Change: V38I
PolyPhen 2
Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043551
Gene: ENSMUSG00000034028
AA Change: V38I
| 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
|
| SMART Domains |
Protein: ENSMUSP00000095104
Gene: ENSMUSG00000034028
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
25 |
130 |
9.26e-8 |
SMART |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,263,982 (GRCm39) |
M51V |
probably benign |
Het |
| Abcb5 |
C |
T |
12: 118,881,932 (GRCm39) |
G599D |
probably damaging |
Het |
| Aim2 |
T |
A |
1: 173,289,840 (GRCm39) |
I261N |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,727,653 (GRCm39) |
H261R |
possibly damaging |
Het |
| Ankrd12 |
G |
A |
17: 66,349,582 (GRCm39) |
H84Y |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,400,718 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
C |
T |
10: 80,138,258 (GRCm39) |
P139S |
possibly damaging |
Het |
| Cct7 |
A |
G |
6: 85,438,091 (GRCm39) |
Y111C |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,271,833 (GRCm39) |
Y582C |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,261,884 (GRCm39) |
D871G |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,423,698 (GRCm39) |
N133I |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,703,977 (GRCm39) |
I428V |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flrt3 |
G |
A |
2: 140,502,045 (GRCm39) |
P528S |
probably damaging |
Het |
| Gm9476 |
A |
C |
10: 100,143,046 (GRCm39) |
|
noncoding transcript |
Het |
| Itgae |
T |
C |
11: 73,009,361 (GRCm39) |
I515T |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,655,312 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
G |
17: 12,454,045 (GRCm39) |
V1419A |
possibly damaging |
Het |
| Mfsd6l |
A |
T |
11: 68,448,576 (GRCm39) |
I476L |
probably benign |
Het |
| Mrpl2 |
T |
C |
17: 46,959,157 (GRCm39) |
|
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,917,729 (GRCm39) |
L314P |
probably damaging |
Het |
| Msto1 |
C |
A |
3: 88,819,131 (GRCm39) |
R205S |
probably benign |
Het |
| Myh9 |
A |
T |
15: 77,692,196 (GRCm39) |
I121N |
probably damaging |
Het |
| Omt2a |
G |
A |
9: 78,220,621 (GRCm39) |
R20C |
possibly damaging |
Het |
| Or4c11b |
G |
A |
2: 88,625,631 (GRCm39) |
V302I |
probably benign |
Het |
| Pdpr |
G |
A |
8: 111,852,312 (GRCm39) |
V560I |
probably damaging |
Het |
| Rimkla |
A |
T |
4: 119,325,549 (GRCm39) |
C287S |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,311,891 (GRCm39) |
|
probably benign |
Het |
| Tm7sf2 |
T |
A |
19: 6,113,598 (GRCm39) |
K111I |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,802 (GRCm39) |
E322G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,711,543 (GRCm39) |
|
probably benign |
Het |
| Zbtb20 |
T |
A |
16: 43,431,011 (GRCm39) |
Y507* |
probably null |
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 |
|
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 |
|
|
R1125:Cd226
|
UTSW |
18 |
89,286,046 (GRCm39) |
missense |
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation