Incidental Mutation 'R2367:Ms4a3'
| ID |
246393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ms4a3
|
| Ensembl Gene |
ENSMUSG00000024681 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 3 |
| Synonyms |
haematopoietic cell-specific transmembrane-4, HTm4 |
| MMRRC Submission |
040348-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2367 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
11606863-11618215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 11607108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 186
(P186S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112984]
[ENSMUST00000186023]
|
| AlphaFold |
Q920C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112984
AA Change: P186S
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: P186S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
27 |
172 |
2.3e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186023
AA Change: P186S
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: P186S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
27 |
172 |
9.5e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190642
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
T |
C |
16: 22,974,069 (GRCm39) |
V32A |
probably benign |
Het |
| Ceacam3 |
T |
C |
7: 16,885,813 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,233,414 (GRCm39) |
V296F |
probably damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,499 (GRCm39) |
V182A |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,821 (GRCm39) |
R279W |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 55,002,956 (GRCm39) |
M552L |
probably benign |
Het |
| Gstt2 |
C |
T |
10: 75,668,524 (GRCm39) |
G108S |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,448,605 (GRCm39) |
L422Q |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Krtap26-1 |
C |
A |
16: 88,444,213 (GRCm39) |
R136L |
probably benign |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,347 (GRCm39) |
W129* |
probably null |
Het |
| Myo15a |
T |
A |
11: 60,408,064 (GRCm39) |
M3184K |
probably damaging |
Het |
| Olig2 |
G |
A |
16: 91,023,454 (GRCm39) |
R56Q |
possibly damaging |
Het |
| Or8u9 |
T |
C |
2: 86,001,981 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pgap3 |
C |
T |
11: 98,281,985 (GRCm39) |
|
probably null |
Het |
| Phgdh |
C |
G |
3: 98,221,612 (GRCm39) |
G440A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,158,023 (GRCm39) |
Q450R |
probably damaging |
Het |
| Sema4d |
CGGGG |
CGGGGGGG |
13: 51,857,176 (GRCm39) |
|
probably benign |
Het |
| Sik1 |
C |
T |
17: 32,065,271 (GRCm39) |
V776I |
possibly damaging |
Het |
| Slc25a39 |
T |
A |
11: 102,294,477 (GRCm39) |
T316S |
possibly damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,001,087 (GRCm39) |
E578K |
probably benign |
Het |
| Slc44a5 |
T |
A |
3: 153,953,446 (GRCm39) |
I276K |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,318,036 (GRCm39) |
T610A |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 94,007,583 (GRCm39) |
S1090N |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,309,479 (GRCm39) |
V277A |
probably damaging |
Het |
| Traf3ip1 |
T |
G |
1: 91,435,242 (GRCm39) |
S314A |
possibly damaging |
Het |
| Tril |
T |
A |
6: 53,796,151 (GRCm39) |
D357V |
probably damaging |
Het |
| Tube1 |
T |
C |
10: 39,020,915 (GRCm39) |
L267P |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,416 (GRCm39) |
I27V |
probably benign |
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 |
|
IGL01950:Ms4a3
|
APN |
19 |
11,610,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATCCAGATCCAGACCGTG -3'
(R):5'- TCTGGTCCACATGCATGTTATC -3'
Sequencing Primer
(F):5'- CAGACCGTGCTCGTGGATTTAC -3'
(R):5'- CACATGCATGTTATCACTTTTCAGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation