Incidental Mutation 'IGL00589:Ms4a1'
| ID |
12096 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ms4a1
|
| Ensembl Gene |
ENSMUSG00000024673 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 1 |
| Synonyms |
Ly-44, Cd20 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00589
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11227043-11243513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11231923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 151
(T151S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169159]
|
| AlphaFold |
P19437 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169159
AA Change: T151S
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000126422
Gene: ENSMUSG00000024673
AA Change: T151S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
44 |
210 |
3.8e-48 |
PFAM |
|
low complexity region
|
253 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181137
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185851
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187379
|
| 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. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus affects B cell physiology but does not impair B cell development or overall immune function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
A |
T |
X: 154,078,236 (GRCm39) |
I261L |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,659,216 (GRCm39) |
F525I |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,554,096 (GRCm39) |
Y674* |
probably null |
Het |
| Baz1b |
A |
G |
5: 135,225,346 (GRCm39) |
E43G |
possibly damaging |
Het |
| Ccz1 |
T |
C |
5: 143,949,713 (GRCm39) |
T72A |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,742,474 (GRCm39) |
R1629H |
probably damaging |
Het |
| Ell3 |
A |
T |
2: 121,270,761 (GRCm39) |
D257E |
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,547,016 (GRCm39) |
|
probably benign |
Het |
| Isg20 |
G |
A |
7: 78,566,332 (GRCm39) |
D94N |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,369,960 (GRCm39) |
S392R |
probably damaging |
Het |
| Nphp1 |
A |
G |
2: 127,605,769 (GRCm39) |
I352T |
probably damaging |
Het |
| Or1e1 |
T |
A |
11: 73,244,869 (GRCm39) |
C97S |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,813,687 (GRCm39) |
D266G |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,067 (GRCm39) |
Y233H |
probably benign |
Het |
| Rwdd4a |
A |
T |
8: 47,997,219 (GRCm39) |
E146V |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,485,816 (GRCm39) |
I90V |
probably benign |
Het |
| Slc38a3 |
G |
A |
9: 107,535,876 (GRCm39) |
L86F |
probably damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,108,262 (GRCm39) |
T430A |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,554,362 (GRCm39) |
V1576M |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,275,635 (GRCm39) |
L806Q |
probably damaging |
Het |
|
| Other mutations in Ms4a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
bilious
|
UTSW |
19 |
11,230,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
Chartreuse
|
UTSW |
19 |
11,235,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Paris_green
|
UTSW |
19 |
11,233,933 (GRCm39) |
splice site |
probably null |
|
|
IGL03097:Ms4a1
|
UTSW |
19 |
11,230,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0437:Ms4a1
|
UTSW |
19 |
11,233,933 (GRCm39) |
splice site |
probably null |
|
|
R0518:Ms4a1
|
UTSW |
19 |
11,236,043 (GRCm39) |
splice site |
probably null |
|
|
R0521:Ms4a1
|
UTSW |
19 |
11,236,043 (GRCm39) |
splice site |
probably null |
|
|
R0704:Ms4a1
|
UTSW |
19 |
11,230,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1532:Ms4a1
|
UTSW |
19 |
11,230,557 (GRCm39) |
missense |
probably benign |
|
|
R4877:Ms4a1
|
UTSW |
19 |
11,231,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5089:Ms4a1
|
UTSW |
19 |
11,236,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5903:Ms4a1
|
UTSW |
19 |
11,235,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5981:Ms4a1
|
UTSW |
19 |
11,229,180 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6366:Ms4a1
|
UTSW |
19 |
11,236,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6805:Ms4a1
|
UTSW |
19 |
11,230,537 (GRCm39) |
splice site |
probably null |
|
|
R6864:Ms4a1
|
UTSW |
19 |
11,230,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8985:Ms4a1
|
UTSW |
19 |
11,232,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9052:Ms4a1
|
UTSW |
19 |
11,233,954 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2012-12-06 |
Incidental Mutation