Incidental Mutation 'IGL01799:Ms4a6d'
| ID |
155461 |
| 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 # |
IGL01799
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11563970-11582150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11567499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 26
(I26N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025582]
[ENSMUST00000125291]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025582
AA Change: I134N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025582
Gene: ENSMUSG00000024679
AA Change: I134N
| 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: I26N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115142
Gene: ENSMUSG00000024679
AA Change: I26N
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
A |
13: 4,564,257 (GRCm39) |
|
probably null |
Het |
| Anp32a |
A |
G |
9: 62,279,092 (GRCm39) |
T35A |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,938,754 (GRCm39) |
Y119H |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,482,258 (GRCm39) |
I32V |
possibly damaging |
Het |
| Fbll1 |
A |
C |
11: 35,688,936 (GRCm39) |
V109G |
possibly damaging |
Het |
| Gli3 |
T |
C |
13: 15,900,746 (GRCm39) |
S1378P |
probably benign |
Het |
| Hcfc2 |
G |
A |
10: 82,536,825 (GRCm39) |
C79Y |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,090,911 (GRCm39) |
I741N |
possibly damaging |
Het |
| Heatr5a |
T |
C |
12: 51,944,618 (GRCm39) |
D1289G |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,891,336 (GRCm39) |
N383K |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,645,770 (GRCm39) |
L59P |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,633,757 (GRCm39) |
L743Q |
probably benign |
Het |
| Micos10 |
G |
T |
4: 138,831,308 (GRCm39) |
|
probably benign |
Het |
| Mks1 |
A |
T |
11: 87,747,689 (GRCm39) |
I191F |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,243,187 (GRCm39) |
N104K |
probably damaging |
Het |
| Mup17 |
T |
C |
4: 61,511,948 (GRCm39) |
T109A |
probably benign |
Het |
| Mylk4 |
T |
G |
13: 32,965,674 (GRCm39) |
E9A |
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,095,823 (GRCm39) |
V1812M |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,374,401 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,222,599 (GRCm39) |
|
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,335,276 (GRCm39) |
H771R |
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,435,476 (GRCm39) |
V642A |
possibly damaging |
Het |
| Or9g3 |
T |
A |
2: 85,589,986 (GRCm39) |
I245F |
probably benign |
Het |
| Pate12 |
T |
C |
9: 36,344,179 (GRCm39) |
L54P |
possibly damaging |
Het |
| Pi4ka |
C |
A |
16: 17,207,235 (GRCm39) |
L23F |
probably damaging |
Het |
| Rerg |
T |
A |
6: 137,033,376 (GRCm39) |
K100* |
probably null |
Het |
| Sema6c |
T |
C |
3: 95,078,142 (GRCm39) |
V506A |
probably damaging |
Het |
| Slc15a1 |
T |
G |
14: 121,718,141 (GRCm39) |
N246T |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,218,647 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
A |
G |
17: 55,899,990 (GRCm39) |
L638P |
probably damaging |
Het |
| Vmn2r80 |
G |
A |
10: 79,007,385 (GRCm39) |
G454S |
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 |
|
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 |
2014-02-04 |
Incidental Mutation