Incidental Mutation 'R5981:Ms4a1'
ID |
481431 |
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 |
043250-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5981 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
11227043-11243513 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 11229180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 242
(E242G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169159]
|
AlphaFold |
P19437 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000169159
AA Change: E242G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000126422 Gene: ENSMUSG00000024673 AA Change: E242G
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
C |
3: 59,659,299 (GRCm39) |
Y251H |
probably benign |
Het |
Ccr3 |
G |
A |
9: 123,828,820 (GRCm39) |
G52S |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,993,661 (GRCm39) |
L1992P |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,515,293 (GRCm39) |
K23E |
probably damaging |
Het |
Col12a1 |
G |
A |
9: 79,585,788 (GRCm39) |
R1224C |
probably damaging |
Het |
Cox7c |
A |
T |
13: 86,194,780 (GRCm39) |
S5R |
possibly damaging |
Het |
Eps8 |
A |
G |
6: 137,459,208 (GRCm39) |
V765A |
probably damaging |
Het |
Frg1 |
T |
C |
8: 41,863,307 (GRCm39) |
D104G |
possibly damaging |
Het |
Gm11032 |
T |
C |
11: 4,571,697 (GRCm39) |
V34A |
probably benign |
Het |
Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
Hivep1 |
C |
T |
13: 42,313,664 (GRCm39) |
T1968I |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 76,905,229 (GRCm39) |
D444G |
probably damaging |
Het |
Mx1 |
T |
C |
16: 97,255,405 (GRCm39) |
D216G |
probably damaging |
Het |
Panx3 |
A |
G |
9: 37,580,177 (GRCm39) |
S59P |
possibly damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,814,907 (GRCm39) |
D466G |
probably damaging |
Het |
Plg |
T |
C |
17: 12,597,605 (GRCm39) |
|
probably null |
Het |
Prpf4b |
T |
C |
13: 35,070,693 (GRCm39) |
S427P |
probably benign |
Het |
Rbm44 |
T |
C |
1: 91,080,411 (GRCm39) |
S166P |
possibly damaging |
Het |
Recql |
A |
G |
6: 142,318,604 (GRCm39) |
L213P |
probably damaging |
Het |
Rwdd1 |
A |
G |
10: 33,885,081 (GRCm39) |
Y60H |
probably damaging |
Het |
Sult1b1 |
A |
C |
5: 87,682,816 (GRCm39) |
I43R |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,947,849 (GRCm39) |
V597E |
probably benign |
Het |
Usp17lb |
T |
A |
7: 104,490,394 (GRCm39) |
I177F |
probably damaging |
Het |
Zfp410 |
A |
G |
12: 84,378,414 (GRCm39) |
E193G |
probably benign |
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 |
|
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 |
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'- ATGTGTCTTGGAAGCTCTCTAAAC -3'
(R):5'- CATCCGCATTGCCAATCCTG -3'
Sequencing Primer
(F):5'- CTTGGAAGCTCTCTAAACAATAATGC -3'
(R):5'- GCATTGCCAATCCTGGTATCTACAG -3'
|
Posted On |
2017-06-26 |