Incidental Mutation 'IGL00789:Ms4a13'
| ID |
12098 |
| 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: 0.052)
|
| Stock # |
IGL00789
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11146782-11174101 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 11162478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 80
(S80R)
|
| 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: S80R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073095
Gene: ENSMUSG00000057240
AA Change: S80R
| 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: S80R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140293
Gene: ENSMUSG00000057240
AA Change: S80R
| 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: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
A |
T |
5: 144,222,356 (GRCm39) |
L133* |
probably null |
Het |
| Baiap2l1 |
A |
T |
5: 144,222,879 (GRCm39) |
|
probably null |
Het |
| Cobll1 |
A |
T |
2: 64,956,357 (GRCm39) |
D300E |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,951 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,689,886 (GRCm39) |
H111N |
probably damaging |
Het |
| Dync1i2 |
G |
A |
2: 71,078,299 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
A |
G |
13: 97,309,566 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
C |
T |
15: 8,326,353 (GRCm39) |
V2419M |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,803,178 (GRCm39) |
V657A |
probably benign |
Het |
| Rab32 |
T |
C |
10: 10,426,556 (GRCm39) |
N130S |
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,193,249 (GRCm39) |
T935I |
probably benign |
Het |
|
| Other mutations in Ms4a13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02458:Ms4a13
|
APN |
19 |
11,149,292 (GRCm39) |
missense |
probably benign |
|
|
IGL03259:Ms4a13
|
APN |
19 |
11,161,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2012-12-06 |
Incidental Mutation