Incidental Mutation 'R2443:Ms4a6d'
ID |
249894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ms4a6d
|
Ensembl Gene |
ENSMUSG00000024679 |
Gene Name |
membrane-spanning 4-domains, subfamily A, member 6D |
Synonyms |
Ms4a11 |
MMRRC Submission |
040401-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R2443 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
11563970-11582150 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 11567557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 115
(H115Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025582]
[ENSMUST00000125291]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025582
AA Change: H115Y
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025582 Gene: ENSMUSG00000024679 AA Change: H115Y
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
47 |
207 |
2.8e-42 |
PFAM |
low complexity region
|
222 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125291
AA Change: H7Y
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000115142 Gene: ENSMUSG00000024679 AA Change: H7Y
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
1 |
99 |
3.7e-15 |
PFAM |
low complexity region
|
114 |
127 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155669
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
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. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc13 |
C |
T |
9: 102,511,222 (GRCm39) |
P37S |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,544,596 (GRCm39) |
D39E |
probably benign |
Het |
Cfap91 |
A |
G |
16: 38,123,094 (GRCm39) |
Y645H |
probably damaging |
Het |
Clec4d |
G |
A |
6: 123,245,076 (GRCm39) |
V119M |
probably benign |
Het |
Dennd11 |
T |
C |
6: 40,383,710 (GRCm39) |
D444G |
probably damaging |
Het |
Dlx2 |
A |
G |
2: 71,376,349 (GRCm39) |
S130P |
probably benign |
Het |
Dync2li1 |
C |
A |
17: 84,955,093 (GRCm39) |
Q251K |
probably benign |
Het |
Edem1 |
A |
T |
6: 108,828,230 (GRCm39) |
K518N |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,388,665 (GRCm39) |
N239K |
probably damaging |
Het |
Fbln2 |
T |
C |
6: 91,236,693 (GRCm39) |
V736A |
probably damaging |
Het |
Fga |
A |
G |
3: 82,935,848 (GRCm39) |
K25R |
probably benign |
Het |
Hmcn1 |
C |
A |
1: 150,474,783 (GRCm39) |
R4701S |
probably benign |
Het |
Ighv8-5 |
G |
A |
12: 115,031,440 (GRCm39) |
P33L |
probably damaging |
Het |
Kcnip3 |
T |
A |
2: 127,301,983 (GRCm39) |
I194F |
probably damaging |
Het |
Kif26b |
A |
C |
1: 178,742,579 (GRCm39) |
I892L |
probably damaging |
Het |
Krt78 |
C |
T |
15: 101,855,033 (GRCm39) |
G926E |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,566,919 (GRCm39) |
Y1934C |
unknown |
Het |
Masp1 |
A |
T |
16: 23,295,062 (GRCm39) |
Y400N |
probably damaging |
Het |
Methig1 |
T |
C |
15: 100,251,092 (GRCm39) |
M1T |
probably null |
Het |
Mmp19 |
A |
G |
10: 128,634,725 (GRCm39) |
E447G |
possibly damaging |
Het |
Myo1e |
C |
T |
9: 70,234,454 (GRCm39) |
S269L |
probably benign |
Het |
Myo7a |
G |
A |
7: 97,744,976 (GRCm39) |
T288I |
probably benign |
Het |
Npy5r |
T |
A |
8: 67,133,942 (GRCm39) |
K284* |
probably null |
Het |
Oas3 |
C |
A |
5: 120,915,553 (GRCm39) |
R46L |
probably benign |
Het |
Or5l14 |
A |
T |
2: 87,793,209 (GRCm39) |
V9E |
possibly damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,350,447 (GRCm39) |
S431T |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,037,982 (GRCm39) |
V184A |
possibly damaging |
Het |
Pomt2 |
C |
A |
12: 87,180,154 (GRCm39) |
K282N |
probably damaging |
Het |
Psmd12 |
T |
A |
11: 107,386,563 (GRCm39) |
M378K |
probably damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Strn3 |
A |
T |
12: 51,674,618 (GRCm39) |
Y389N |
probably damaging |
Het |
Tdrd1 |
C |
T |
19: 56,829,786 (GRCm39) |
A220V |
probably null |
Het |
Tecpr2 |
T |
G |
12: 110,862,759 (GRCm39) |
L57R |
probably damaging |
Het |
Tkfc |
A |
G |
19: 10,571,902 (GRCm39) |
L378P |
probably damaging |
Het |
Tmprss2 |
T |
G |
16: 97,369,703 (GRCm39) |
D357A |
possibly damaging |
Het |
Tollip |
C |
T |
7: 141,444,560 (GRCm39) |
W64* |
probably null |
Het |
Vcan |
A |
G |
13: 89,852,794 (GRCm39) |
F722S |
probably damaging |
Het |
Vcp |
A |
T |
4: 42,983,385 (GRCm39) |
N558K |
probably damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,133,646 (GRCm39) |
I318T |
probably damaging |
Het |
Vmn1r33 |
A |
T |
6: 66,588,957 (GRCm39) |
I199K |
possibly damaging |
Het |
Zfp61 |
A |
G |
7: 23,991,194 (GRCm39) |
V319A |
probably benign |
Het |
Zfyve28 |
A |
G |
5: 34,374,238 (GRCm39) |
V592A |
possibly damaging |
Het |
|
Other mutations in Ms4a6d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00495:Ms4a6d
|
APN |
19 |
11,579,249 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01638:Ms4a6d
|
APN |
19 |
11,564,532 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01799:Ms4a6d
|
APN |
19 |
11,567,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02304:Ms4a6d
|
APN |
19 |
11,580,505 (GRCm39) |
splice site |
probably benign |
|
R1873:Ms4a6d
|
UTSW |
19 |
11,579,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Ms4a6d
|
UTSW |
19 |
11,567,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R2900:Ms4a6d
|
UTSW |
19 |
11,567,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Ms4a6d
|
UTSW |
19 |
11,564,500 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6251:Ms4a6d
|
UTSW |
19 |
11,564,504 (GRCm39) |
missense |
probably damaging |
0.99 |
R7339:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7340:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7341:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7342:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7347:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7348:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7350:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7368:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7393:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R7394:Ms4a6d
|
UTSW |
19 |
11,567,437 (GRCm39) |
nonsense |
probably null |
|
R8020:Ms4a6d
|
UTSW |
19 |
11,567,472 (GRCm39) |
missense |
probably benign |
0.00 |
R8181:Ms4a6d
|
UTSW |
19 |
11,580,653 (GRCm39) |
missense |
probably damaging |
0.99 |
R8785:Ms4a6d
|
UTSW |
19 |
11,570,400 (GRCm39) |
critical splice donor site |
probably benign |
|
R9262:Ms4a6d
|
UTSW |
19 |
11,579,216 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- TTACAGTCAGAGCAGCTTTGG -3'
(R):5'- CTGAAGTACTGTCTGGCATGGG -3'
Sequencing Primer
(F):5'- CACGAAGCAGCTGTTTAATGGCTC -3'
(R):5'- AAGTACTGTCTGGCATGGGATCATAC -3'
|
Posted On |
2014-11-12 |