Incidental Mutation 'IGL01638:Ms4a6d'
ID |
93139 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ms4a6d
|
Ensembl Gene |
ENSMUSG00000024679 |
Gene Name |
membrane-spanning 4-domains, subfamily A, member 6D |
Synonyms |
Ms4a11 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL01638
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
11563970-11582150 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 11564532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 113
(L113Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115142
(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: L221Q
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025582 Gene: ENSMUSG00000024679 AA Change: L221Q
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 damaging
Transcript: ENSMUST00000125291
AA Change: L113Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000115142 Gene: ENSMUSG00000024679 AA Change: L113Q
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193293
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,849,409 (GRCm39) |
T436A |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,598,832 (GRCm39) |
|
probably benign |
Het |
Ajap1 |
A |
G |
4: 153,516,693 (GRCm39) |
V216A |
possibly damaging |
Het |
Akap7 |
T |
A |
10: 25,143,323 (GRCm39) |
I124F |
probably damaging |
Het |
Arfgef2 |
G |
A |
2: 166,715,865 (GRCm39) |
V1385M |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,225,138 (GRCm39) |
K65E |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,028,460 (GRCm39) |
N2377D |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,298,456 (GRCm39) |
F1260S |
probably damaging |
Het |
Cad |
T |
A |
5: 31,224,958 (GRCm39) |
C954S |
probably damaging |
Het |
Fcmr |
A |
T |
1: 130,802,859 (GRCm39) |
E157D |
probably benign |
Het |
Gm4204 |
A |
T |
1: 135,160,873 (GRCm39) |
|
noncoding transcript |
Het |
Gzmn |
A |
T |
14: 56,406,476 (GRCm39) |
D16E |
probably benign |
Het |
Krt86 |
A |
C |
15: 101,373,353 (GRCm39) |
|
probably benign |
Het |
Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
Myh15 |
T |
C |
16: 48,889,843 (GRCm39) |
S145P |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,688,724 (GRCm39) |
K518E |
probably damaging |
Het |
Or8d6 |
T |
C |
9: 39,853,816 (GRCm39) |
S87P |
probably benign |
Het |
Parp11 |
T |
A |
6: 127,468,492 (GRCm39) |
F181I |
probably benign |
Het |
Ppil1 |
C |
A |
17: 29,480,766 (GRCm39) |
K52N |
probably benign |
Het |
Prl5a1 |
T |
A |
13: 28,329,422 (GRCm39) |
C34S |
possibly damaging |
Het |
Prss55 |
A |
G |
14: 64,314,636 (GRCm39) |
V178A |
probably benign |
Het |
S100a7a |
A |
G |
3: 90,562,837 (GRCm39) |
D8G |
probably benign |
Het |
Sh3glb2 |
A |
G |
2: 30,235,862 (GRCm39) |
V310A |
possibly damaging |
Het |
Slc22a7 |
T |
C |
17: 46,748,920 (GRCm39) |
|
probably null |
Het |
Slc27a6 |
A |
G |
18: 58,740,885 (GRCm39) |
D482G |
probably damaging |
Het |
Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
Specc1l |
T |
A |
10: 75,082,039 (GRCm39) |
Y478* |
probably null |
Het |
Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
Tcerg1l |
G |
A |
7: 137,881,805 (GRCm39) |
R295C |
probably damaging |
Het |
Trpv1 |
T |
C |
11: 73,144,155 (GRCm39) |
I637T |
probably damaging |
Het |
Ttc7 |
A |
C |
17: 87,666,540 (GRCm39) |
|
probably null |
Het |
Vmn1r6 |
C |
T |
6: 56,980,177 (GRCm39) |
Q280* |
probably null |
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 |
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 |
R2443:Ms4a6d
|
UTSW |
19 |
11,567,557 (GRCm39) |
missense |
possibly damaging |
0.93 |
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 |
|
Posted On |
2013-12-09 |