Incidental Mutation 'IGL01950:Ms4a3'
| ID |
181312 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ms4a3
|
| Ensembl Gene |
ENSMUSG00000024681 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 3 |
| Synonyms |
haematopoietic cell-specific transmembrane-4, HTm4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11606863-11618215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 11610199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 121
(A121E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112984]
[ENSMUST00000186023]
|
| AlphaFold |
Q920C4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112984
AA Change: A121E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: A121E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
27 |
172 |
2.3e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186023
AA Change: A121E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: A121E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
27 |
172 |
9.5e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190642
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Summary:This gene encodes a member of the membrane-spanning-four (MS4) protein group, that contain a four-transmembrane protein structure. This gene is expressed in developing hematopoietic cells and has also been observed in some regions of the adult brain. Expression of the human ortholog of this gene has also been observed in some human cancer cell lines. This protein may play a role in cell cycle regulation, and interactions have been demonstrated between Ms4a3 and KAP phosphatase. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adm |
G |
A |
7: 110,228,107 (GRCm39) |
R96H |
probably damaging |
Het |
| Aebp1 |
C |
T |
11: 5,819,108 (GRCm39) |
T198I |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,702,257 (GRCm39) |
I500N |
probably damaging |
Het |
| Clec1b |
T |
A |
6: 129,377,043 (GRCm39) |
W29R |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,874 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,290,435 (GRCm39) |
E1275G |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,067,631 (GRCm39) |
I1171N |
possibly damaging |
Het |
| Dpf3 |
T |
G |
12: 83,371,723 (GRCm39) |
T171P |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
| Kcnc2 |
T |
G |
10: 112,297,980 (GRCm39) |
|
probably benign |
Het |
| Kcnj11 |
A |
T |
7: 45,748,573 (GRCm39) |
F250Y |
probably damaging |
Het |
| Kirrel3 |
C |
T |
9: 34,939,625 (GRCm39) |
|
probably benign |
Het |
| Lmbrd1 |
T |
C |
1: 24,750,683 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
C |
2: 119,772,135 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Nfix |
T |
C |
8: 85,440,415 (GRCm39) |
*392W |
probably null |
Het |
| Noxred1 |
C |
T |
12: 87,268,190 (GRCm39) |
V314M |
probably damaging |
Het |
| Or2t47 |
A |
T |
11: 58,442,560 (GRCm39) |
C168* |
probably null |
Het |
| Or51aa5 |
T |
A |
7: 103,167,472 (GRCm39) |
T40S |
probably benign |
Het |
| Phospho1 |
A |
G |
11: 95,719,548 (GRCm39) |
|
probably benign |
Het |
| Prr5 |
G |
A |
15: 84,650,550 (GRCm39) |
A237T |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,697,153 (GRCm39) |
T550M |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,965,032 (GRCm39) |
F955L |
probably benign |
Het |
| Slc38a9 |
C |
T |
13: 112,831,787 (GRCm39) |
T179M |
probably damaging |
Het |
| Trpv5 |
T |
G |
6: 41,652,912 (GRCm39) |
D87A |
probably benign |
Het |
| Tubgcp5 |
A |
G |
7: 55,455,836 (GRCm39) |
Q288R |
possibly damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,700,058 (GRCm39) |
Y172H |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,845 (GRCm39) |
F733L |
possibly damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,264,827 (GRCm39) |
Y53C |
probably damaging |
Het |
| Vwa5a |
T |
A |
9: 38,638,266 (GRCm39) |
M263K |
probably damaging |
Het |
| Zfp503 |
C |
A |
14: 22,036,488 (GRCm39) |
A143S |
probably benign |
Het |
| Zfp958 |
T |
C |
8: 4,678,917 (GRCm39) |
L314P |
probably damaging |
Het |
|
| Other mutations in Ms4a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01155:Ms4a3
|
APN |
19 |
11,607,019 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01370:Ms4a3
|
APN |
19 |
11,610,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01901:Ms4a3
|
APN |
19 |
11,616,630 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0609:Ms4a3
|
UTSW |
19 |
11,608,725 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1546:Ms4a3
|
UTSW |
19 |
11,610,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1938:Ms4a3
|
UTSW |
19 |
11,613,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2367:Ms4a3
|
UTSW |
19 |
11,607,108 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3890:Ms4a3
|
UTSW |
19 |
11,610,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4727:Ms4a3
|
UTSW |
19 |
11,608,742 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6103:Ms4a3
|
UTSW |
19 |
11,616,582 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6908:Ms4a3
|
UTSW |
19 |
11,615,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Ms4a3
|
UTSW |
19 |
11,615,613 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9437:Ms4a3
|
UTSW |
19 |
11,607,065 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2014-05-07 |
Incidental Mutation