Incidental Mutation 'R0704:Ms4a1'
| ID |
63108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ms4a1
|
| Ensembl Gene |
ENSMUSG00000024673 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 1 |
| Synonyms |
Ly-44, Cd20 |
| MMRRC Submission |
038887-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0704 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
11227043-11243513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11230596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 202
(T202A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169159]
|
| AlphaFold |
P19437 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169159
AA Change: T202A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000126422
Gene: ENSMUSG00000024673
AA Change: T202A
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,643,381 (GRCm39) |
L441Q |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,953,746 (GRCm39) |
E550V |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,010,213 (GRCm39) |
F690L |
probably benign |
Het |
| Aspg |
T |
A |
12: 112,080,906 (GRCm39) |
N132K |
probably damaging |
Het |
| B430305J03Rik |
A |
T |
3: 61,271,414 (GRCm39) |
Y110* |
probably null |
Het |
| Cep135 |
A |
G |
5: 76,778,796 (GRCm39) |
E741G |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,239,567 (GRCm39) |
V1256A |
possibly damaging |
Het |
| Dkkl1 |
T |
C |
7: 44,859,539 (GRCm39) |
K128E |
probably damaging |
Het |
| Duox2 |
A |
T |
2: 122,115,249 (GRCm39) |
M1101K |
probably benign |
Het |
| Gpr89 |
T |
C |
3: 96,787,484 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
T |
C |
3: 95,473,997 (GRCm39) |
|
probably null |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
| Itga2 |
A |
G |
13: 114,998,911 (GRCm39) |
F658S |
possibly damaging |
Het |
| Kcnc4 |
T |
C |
3: 107,355,279 (GRCm39) |
I390V |
possibly damaging |
Het |
| Krt84 |
G |
T |
15: 101,441,112 (GRCm39) |
H27N |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,821,277 (GRCm39) |
I3095T |
possibly damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Nrbp2 |
A |
G |
15: 75,960,801 (GRCm39) |
S294P |
probably damaging |
Het |
| Or6b13 |
A |
G |
7: 139,782,548 (GRCm39) |
V45A |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,638,172 (GRCm39) |
V74A |
probably benign |
Het |
| Pde4b |
C |
T |
4: 102,344,589 (GRCm39) |
L155F |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,777,928 (GRCm39) |
S6P |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,293,704 (GRCm39) |
L150Q |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,101,809 (GRCm39) |
V3374I |
probably damaging |
Het |
| Rgs12 |
T |
G |
5: 35,180,466 (GRCm39) |
S253A |
possibly damaging |
Het |
| Sap130 |
C |
A |
18: 31,786,607 (GRCm39) |
T266K |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,857,155 (GRCm39) |
I379V |
possibly damaging |
Het |
| Slc39a10 |
T |
A |
1: 46,875,021 (GRCm39) |
I94F |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,630,368 (GRCm39) |
N2263K |
probably damaging |
Het |
| Srsf12 |
A |
G |
4: 33,231,069 (GRCm39) |
R188G |
probably damaging |
Het |
| Ssxb9 |
T |
G |
X: 8,238,022 (GRCm39) |
S130R |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,629,729 (GRCm39) |
D470G |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,573,095 (GRCm39) |
Q979R |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Zfp78 |
T |
A |
7: 6,382,251 (GRCm39) |
C402S |
probably damaging |
Het |
|
| Other mutations in Ms4a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Ms4a1
|
APN |
19 |
11,231,923 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGAACACTTGTGGACATGTGG -3'
(R):5'- AGCACTGAACTGAACTGTTGCTCTC -3'
Sequencing Primer
(F):5'- aacaaaacaaaacaaaacaaaacaCC -3'
(R):5'- AACTGTTGCTCTCTGAGTTCCAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation