Incidental Mutation 'IGL03259:Ms4a13'
| ID |
414757 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ms4a13
|
| Ensembl Gene |
ENSMUSG00000057240 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 13 |
| Synonyms |
1700060E18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL03259
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11146782-11174101 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11161210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 110
(S110P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073380]
[ENSMUST00000188464]
|
| AlphaFold |
Q5FWC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073380
AA Change: S110P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073095
Gene: ENSMUSG00000057240
AA Change: S110P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
15 |
137 |
6.3e-10 |
PFAM |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188464
AA Change: S110P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140293
Gene: ENSMUSG00000057240
AA Change: S110P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
15 |
152 |
2.1e-24 |
PFAM |
|
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
T |
C |
5: 67,781,349 (GRCm39) |
|
probably null |
Het |
| Btbd3 |
T |
C |
2: 138,121,680 (GRCm39) |
M121T |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,953,483 (GRCm39) |
N500I |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,663,841 (GRCm39) |
L534P |
probably damaging |
Het |
| Cyp2d11 |
C |
T |
15: 82,274,221 (GRCm39) |
V387M |
probably damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,094,077 (GRCm39) |
I443T |
probably benign |
Het |
| Heatr5b |
T |
A |
17: 79,098,985 (GRCm39) |
D1305V |
probably damaging |
Het |
| Hps5 |
G |
T |
7: 46,412,526 (GRCm39) |
P1021Q |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,980,156 (GRCm39) |
D637G |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,407,705 (GRCm39) |
D1233G |
probably damaging |
Het |
| Lad1 |
A |
T |
1: 135,755,394 (GRCm39) |
R223S |
probably benign |
Het |
| Nmd3 |
T |
A |
3: 69,652,576 (GRCm39) |
D387E |
possibly damaging |
Het |
| Or1m1 |
A |
G |
9: 18,666,811 (GRCm39) |
V40A |
probably benign |
Het |
| Or7a41 |
C |
A |
10: 78,871,234 (GRCm39) |
Y201* |
probably null |
Het |
| Or8k3b |
G |
T |
2: 86,520,894 (GRCm39) |
Q142K |
probably benign |
Het |
| Pcgf5 |
T |
A |
19: 36,433,059 (GRCm39) |
D234E |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,480,388 (GRCm39) |
H1973L |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,167,251 (GRCm39) |
F226L |
probably damaging |
Het |
| Pgp |
A |
G |
17: 24,690,022 (GRCm39) |
K180R |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,938,788 (GRCm39) |
K404* |
probably null |
Het |
| Serinc5 |
T |
A |
13: 92,827,500 (GRCm39) |
V272D |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,247,979 (GRCm39) |
H395R |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,176,530 (GRCm39) |
V40D |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,035,853 (GRCm39) |
I3713M |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,086 (GRCm39) |
L48* |
probably null |
Het |
| Vwa7 |
A |
G |
17: 35,239,002 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ms4a13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00789:Ms4a13
|
APN |
19 |
11,162,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02458:Ms4a13
|
APN |
19 |
11,149,292 (GRCm39) |
missense |
probably benign |
|
|
R0465:Ms4a13
|
UTSW |
19 |
11,149,957 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0539:Ms4a13
|
UTSW |
19 |
11,149,235 (GRCm39) |
intron |
probably benign |
|
|
R1327:Ms4a13
|
UTSW |
19 |
11,161,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:Ms4a13
|
UTSW |
19 |
11,161,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Ms4a13
|
UTSW |
19 |
11,161,280 (GRCm39) |
nonsense |
probably null |
|
|
R5888:Ms4a13
|
UTSW |
19 |
11,168,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5940:Ms4a13
|
UTSW |
19 |
11,170,330 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6568:Ms4a13
|
UTSW |
19 |
11,168,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Ms4a13
|
UTSW |
19 |
11,170,303 (GRCm39) |
missense |
probably benign |
|
|
R6678:Ms4a13
|
UTSW |
19 |
11,161,222 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6919:Ms4a13
|
UTSW |
19 |
11,149,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7596:Ms4a13
|
UTSW |
19 |
11,147,329 (GRCm39) |
missense |
unknown |
|
|
R8797:Ms4a13
|
UTSW |
19 |
11,161,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9060:Ms4a13
|
UTSW |
19 |
11,168,950 (GRCm39) |
missense |
|
|
|
R9519:Ms4a13
|
UTSW |
19 |
11,147,332 (GRCm39) |
missense |
unknown |
|
|
R9545:Ms4a13
|
UTSW |
19 |
11,147,332 (GRCm39) |
missense |
unknown |
|
|
Z1177:Ms4a13
|
UTSW |
19 |
11,149,948 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2016-08-02 |
Incidental Mutation