Incidental Mutation 'P0027:Ms4a10'
| ID |
7932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ms4a10
|
| Ensembl Gene |
ENSMUSG00000024731 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 10 |
| Synonyms |
2010001N17Rik |
| MMRRC Submission |
038280-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
P0027 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10939657-10952034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10941492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 159
(D159G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072748]
[ENSMUST00000190246]
[ENSMUST00000191343]
|
| AlphaFold |
Q99N03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072748
AA Change: D199G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072531
Gene: ENSMUSG00000024731
AA Change: D199G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
Pfam:CD20
|
56 |
190 |
6e-10 |
PFAM |
|
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190246
AA Change: D71G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140826
Gene: ENSMUSG00000024731
AA Change: D71G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191343
AA Change: D159G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140111
Gene: ENSMUSG00000024731
AA Change: D159G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
Pfam:CD20
|
57 |
150 |
7.9e-14 |
PFAM |
|
low complexity region
|
199 |
212 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 82.6%
- 3x: 72.9%
- 10x: 45.3%
- 20x: 23.4%
|
| Validation Efficiency |
93% (53/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicd2 |
C |
A |
13: 49,533,127 (GRCm39) |
P571Q |
probably benign |
Het |
| Camta2 |
A |
G |
11: 70,574,831 (GRCm39) |
I75T |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
| Copa |
A |
G |
1: 171,939,515 (GRCm39) |
E593G |
possibly damaging |
Het |
| Ftsj3 |
C |
A |
11: 106,145,634 (GRCm39) |
M66I |
possibly damaging |
Het |
| Kdm2a |
C |
T |
19: 4,393,273 (GRCm39) |
|
probably benign |
Het |
| Klhl14 |
T |
C |
18: 21,691,192 (GRCm39) |
Y446C |
probably damaging |
Het |
| Lims1 |
A |
G |
10: 58,254,277 (GRCm39) |
N344D |
probably benign |
Het |
| Marco |
A |
T |
1: 120,402,441 (GRCm39) |
W502R |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,285,423 (GRCm39) |
M207K |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 48,901,571 (GRCm39) |
T249I |
possibly damaging |
Het |
| Nap1l5 |
T |
A |
6: 58,883,810 (GRCm39) |
N48I |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,212,693 (GRCm39) |
D632G |
probably damaging |
Het |
| Or1n2 |
T |
C |
2: 36,797,582 (GRCm39) |
V208A |
probably benign |
Het |
| Phactr4 |
G |
C |
4: 132,098,401 (GRCm39) |
T252R |
probably damaging |
Het |
| Sec14l2 |
C |
T |
11: 4,053,673 (GRCm39) |
|
probably null |
Het |
| Sim2 |
C |
A |
16: 93,910,281 (GRCm39) |
H228N |
probably benign |
Het |
| Tent4a |
G |
A |
13: 69,655,074 (GRCm39) |
R224* |
probably null |
Het |
| Tmem26 |
A |
G |
10: 68,614,548 (GRCm39) |
E321G |
probably benign |
Het |
| Yif1b |
T |
C |
7: 28,938,038 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ms4a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01901:Ms4a10
|
APN |
19 |
10,940,374 (GRCm39) |
missense |
probably benign |
|
|
IGL03031:Ms4a10
|
APN |
19 |
10,946,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0863:Ms4a10
|
UTSW |
19 |
10,945,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Ms4a10
|
UTSW |
19 |
10,942,097 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1509:Ms4a10
|
UTSW |
19 |
10,941,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1838:Ms4a10
|
UTSW |
19 |
10,941,411 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4583:Ms4a10
|
UTSW |
19 |
10,945,553 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4932:Ms4a10
|
UTSW |
19 |
10,942,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5548:Ms4a10
|
UTSW |
19 |
10,945,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5819:Ms4a10
|
UTSW |
19 |
10,946,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5952:Ms4a10
|
UTSW |
19 |
10,941,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Ms4a10
|
UTSW |
19 |
10,944,869 (GRCm39) |
splice site |
probably null |
|
|
R8063:Ms4a10
|
UTSW |
19 |
10,942,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8323:Ms4a10
|
UTSW |
19 |
10,940,363 (GRCm39) |
nonsense |
probably null |
|
|
R9616:Ms4a10
|
UTSW |
19 |
10,944,440 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9631:Ms4a10
|
UTSW |
19 |
10,944,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-11-20 |
Incidental Mutation