Incidental Mutation 'IGL02053:Ms4a6c'
| ID |
185129 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ms4a6c
|
| Ensembl Gene |
ENSMUSG00000079419 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 6C |
| Synonyms |
2200009H22Rik, 2210417N07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL02053
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11446730-11459556 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11455586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 132
(I132V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165310]
|
| AlphaFold |
Q99N08 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165310
AA Change: I132V
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132425
Gene: ENSMUSG00000079419
AA Change: I132V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
47 |
207 |
3.2e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189306
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
C |
17: 43,761,058 (GRCm39) |
S918P |
possibly damaging |
Het |
| AY358078 |
G |
T |
14: 52,043,009 (GRCm39) |
E232D |
unknown |
Het |
| Baz1b |
C |
A |
5: 135,271,320 (GRCm39) |
P1301Q |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,662,990 (GRCm39) |
D311G |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,440,712 (GRCm39) |
L149Q |
probably damaging |
Het |
| Clec2m |
T |
C |
6: 129,303,725 (GRCm39) |
Q80R |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,940,294 (GRCm39) |
D1212V |
possibly damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,358,891 (GRCm39) |
I343V |
probably damaging |
Het |
| Dapk2 |
A |
G |
9: 66,128,027 (GRCm39) |
I102V |
probably benign |
Het |
| Dntt |
A |
G |
19: 41,034,713 (GRCm39) |
T321A |
probably benign |
Het |
| Entrep2 |
C |
T |
7: 64,469,590 (GRCm39) |
G53R |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,090,769 (GRCm39) |
|
probably benign |
Het |
| Fbxw5 |
T |
C |
2: 25,393,453 (GRCm39) |
V18A |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,030,225 (GRCm39) |
C1109S |
probably benign |
Het |
| Ncoa3 |
T |
C |
2: 165,896,754 (GRCm39) |
L515P |
probably damaging |
Het |
| Nfic |
A |
G |
10: 81,256,385 (GRCm39) |
V115A |
probably damaging |
Het |
| P4ha2 |
A |
G |
11: 54,008,413 (GRCm39) |
T207A |
probably benign |
Het |
| Pde10a |
G |
T |
17: 9,193,601 (GRCm39) |
V732L |
probably damaging |
Het |
| Pfas |
A |
T |
11: 68,883,779 (GRCm39) |
L626Q |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,200,230 (GRCm39) |
N270D |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,272,144 (GRCm39) |
S977P |
probably benign |
Het |
| Ptprm |
A |
G |
17: 67,000,836 (GRCm39) |
L1073P |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,633,242 (GRCm39) |
H49Q |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,038,816 (GRCm39) |
I394F |
probably damaging |
Het |
| Sec14l1 |
C |
T |
11: 117,047,738 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,550,413 (GRCm39) |
I151V |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,194,284 (GRCm39) |
N50I |
possibly damaging |
Het |
| Tubal3 |
A |
C |
13: 3,983,159 (GRCm39) |
D313A |
probably damaging |
Het |
| Usp45 |
A |
G |
4: 21,824,553 (GRCm39) |
N483S |
probably benign |
Het |
|
| Other mutations in Ms4a6c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Ms4a6c
|
APN |
19 |
11,455,676 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02651:Ms4a6c
|
APN |
19 |
11,455,669 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02941:Ms4a6c
|
APN |
19 |
11,448,466 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0962:Ms4a6c
|
UTSW |
19 |
11,448,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5434:Ms4a6c
|
UTSW |
19 |
11,448,588 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5592:Ms4a6c
|
UTSW |
19 |
11,458,496 (GRCm39) |
intron |
probably benign |
|
|
R5592:Ms4a6c
|
UTSW |
19 |
11,457,641 (GRCm39) |
intron |
probably benign |
|
|
R5594:Ms4a6c
|
UTSW |
19 |
11,455,537 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5945:Ms4a6c
|
UTSW |
19 |
11,457,863 (GRCm39) |
intron |
probably benign |
|
|
R6214:Ms4a6c
|
UTSW |
19 |
11,448,500 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7349:Ms4a6c
|
UTSW |
19 |
11,455,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Ms4a6c
|
UTSW |
19 |
11,449,893 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8293:Ms4a6c
|
UTSW |
19 |
11,455,660 (GRCm39) |
missense |
probably benign |
|
|
R9442:Ms4a6c
|
UTSW |
19 |
11,449,851 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2014-05-07 |
Incidental Mutation