Incidental Mutation 'IGL00495:Ms4a6d'
ID |
3240 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ms4a6d
|
Ensembl Gene |
ENSMUSG00000024679 |
Gene Name |
membrane-spanning 4-domains, subfamily A, member 6D |
Synonyms |
Ms4a11 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL00495
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
11563970-11582150 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 11579249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 76
(T76I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025582]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025582
AA Change: T76I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025582 Gene: ENSMUSG00000024679 AA Change: T76I
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
47 |
207 |
2.8e-42 |
PFAM |
low complexity region
|
222 |
235 |
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 member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankk1 |
T |
C |
9: 49,327,143 (GRCm39) |
T679A |
probably benign |
Het |
Bhlhe40 |
T |
A |
6: 108,638,139 (GRCm39) |
M33K |
probably benign |
Het |
Cacna2d1 |
T |
C |
5: 16,575,607 (GRCm39) |
S1059P |
probably benign |
Het |
Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
Chrm2 |
A |
T |
6: 36,500,355 (GRCm39) |
I71F |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,469,272 (GRCm39) |
Q618R |
probably benign |
Het |
Cog5 |
T |
A |
12: 31,887,308 (GRCm39) |
N476K |
probably benign |
Het |
Dhx36 |
G |
A |
3: 62,377,979 (GRCm39) |
|
probably benign |
Het |
Dnajb8 |
G |
T |
6: 88,199,836 (GRCm39) |
R124L |
possibly damaging |
Het |
Dnajc16 |
A |
T |
4: 141,490,874 (GRCm39) |
|
probably null |
Het |
Dzip1 |
T |
C |
14: 119,120,806 (GRCm39) |
D717G |
probably benign |
Het |
Eps15 |
G |
T |
4: 109,166,346 (GRCm39) |
V80L |
probably damaging |
Het |
Fmn1 |
G |
A |
2: 113,274,812 (GRCm39) |
|
probably benign |
Het |
Gm12185 |
A |
G |
11: 48,798,688 (GRCm39) |
S602P |
probably damaging |
Het |
Gm28539 |
T |
G |
16: 18,773,530 (GRCm39) |
|
probably benign |
Het |
Grm3 |
T |
C |
5: 9,562,290 (GRCm39) |
N520S |
probably benign |
Het |
Hivep2 |
A |
G |
10: 14,017,988 (GRCm39) |
N1825S |
probably damaging |
Het |
Igfbp2 |
A |
G |
1: 72,888,287 (GRCm39) |
H143R |
probably benign |
Het |
Igsf8 |
T |
G |
1: 172,145,111 (GRCm39) |
V146G |
possibly damaging |
Het |
Kif13b |
T |
G |
14: 64,951,562 (GRCm39) |
S68A |
probably benign |
Het |
Lrrc15 |
T |
A |
16: 30,092,848 (GRCm39) |
I164F |
possibly damaging |
Het |
Mrrf |
G |
A |
2: 36,031,643 (GRCm39) |
R53H |
possibly damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,818,493 (GRCm39) |
R1332G |
probably benign |
Het |
Plekha1 |
A |
G |
7: 130,479,569 (GRCm39) |
Y29C |
probably damaging |
Het |
Pnliprp1 |
A |
T |
19: 58,723,162 (GRCm39) |
H221L |
probably damaging |
Het |
Pomt2 |
T |
C |
12: 87,171,630 (GRCm39) |
D380G |
probably damaging |
Het |
Ppm1f |
C |
A |
16: 16,728,835 (GRCm39) |
T79N |
possibly damaging |
Het |
Ppp4r3b |
A |
C |
11: 29,161,782 (GRCm39) |
T719P |
possibly damaging |
Het |
Socs4 |
G |
A |
14: 47,527,709 (GRCm39) |
V215I |
probably benign |
Het |
Spg11 |
A |
G |
2: 121,924,937 (GRCm39) |
|
probably null |
Het |
Stk31 |
T |
A |
6: 49,414,377 (GRCm39) |
C459S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,539,546 (GRCm39) |
V26153A |
possibly damaging |
Het |
Twf1 |
C |
T |
15: 94,478,817 (GRCm39) |
|
probably benign |
Het |
Vrk3 |
A |
T |
7: 44,419,071 (GRCm39) |
K383M |
probably damaging |
Het |
Wdr83 |
A |
T |
8: 85,806,443 (GRCm39) |
N118K |
probably damaging |
Het |
|
Other mutations in Ms4a6d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01638:Ms4a6d
|
APN |
19 |
11,564,532 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01799:Ms4a6d
|
APN |
19 |
11,567,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02304:Ms4a6d
|
APN |
19 |
11,580,505 (GRCm39) |
splice site |
probably benign |
|
R1873:Ms4a6d
|
UTSW |
19 |
11,579,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Ms4a6d
|
UTSW |
19 |
11,567,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R2443:Ms4a6d
|
UTSW |
19 |
11,567,557 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2900:Ms4a6d
|
UTSW |
19 |
11,567,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Ms4a6d
|
UTSW |
19 |
11,564,500 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6251:Ms4a6d
|
UTSW |
19 |
11,564,504 (GRCm39) |
missense |
probably damaging |
0.99 |
R7339:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7340:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7341:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7342:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7347:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7348:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7350:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7368:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7393:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7394:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R8020:Ms4a6d
|
UTSW |
19 |
11,567,472 (GRCm39) |
missense |
probably benign |
0.00 |
R8181:Ms4a6d
|
UTSW |
19 |
11,580,653 (GRCm39) |
missense |
probably damaging |
0.99 |
R8785:Ms4a6d
|
UTSW |
19 |
11,570,400 (GRCm39) |
critical splice donor site |
probably benign |
|
R9262:Ms4a6d
|
UTSW |
19 |
11,579,216 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2012-04-20 |