Incidental Mutation 'R2900:Ms4a6d'
| ID |
261453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ms4a6d
|
| Ensembl Gene |
ENSMUSG00000024679 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 6D |
| Synonyms |
Ms4a11 |
| MMRRC Submission |
040488-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2900 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
11563970-11582150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 11567508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 23
(G23D)
|
| 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: G131D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025582
Gene: ENSMUSG00000024679
AA Change: G131D
| 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: G23D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115142
Gene: ENSMUSG00000024679
AA Change: G23D
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
C |
T |
10: 41,300,751 (GRCm39) |
H1654Y |
unknown |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,176 (GRCm39) |
V151A |
possibly damaging |
Het |
| Coro6 |
A |
G |
11: 77,358,639 (GRCm39) |
I233V |
probably benign |
Het |
| Cyp26b1 |
C |
T |
6: 84,553,623 (GRCm39) |
R252H |
possibly damaging |
Het |
| Dcdc2a |
C |
A |
13: 25,304,481 (GRCm39) |
D351E |
probably benign |
Het |
| Flnc |
T |
C |
6: 29,448,584 (GRCm39) |
F1274S |
probably damaging |
Het |
| Fut7 |
A |
G |
2: 25,313,923 (GRCm39) |
K33E |
probably benign |
Het |
| Gpsm1 |
G |
T |
2: 26,235,174 (GRCm39) |
V480L |
probably benign |
Het |
| Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
| Ighv1-4 |
A |
G |
12: 114,450,788 (GRCm39) |
S107P |
probably benign |
Het |
| Itsn2 |
T |
C |
12: 4,680,713 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,144,211 (GRCm39) |
D135E |
probably benign |
Het |
| Pdlim1 |
C |
T |
19: 40,211,519 (GRCm39) |
C258Y |
probably damaging |
Het |
| Ppp6r2 |
C |
A |
15: 89,166,198 (GRCm39) |
P734H |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Stat5a |
G |
A |
11: 100,764,957 (GRCm39) |
V227M |
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,939,034 (GRCm39) |
|
probably null |
Het |
| Syn2 |
C |
T |
6: 115,214,295 (GRCm39) |
T173I |
possibly damaging |
Het |
| Thbd |
C |
A |
2: 148,248,134 (GRCm39) |
*578L |
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,754,786 (GRCm39) |
I286T |
probably benign |
Het |
| Zfp566 |
T |
C |
7: 29,777,668 (GRCm39) |
D171G |
possibly damaging |
Het |
| Zfp938 |
T |
C |
10: 82,061,340 (GRCm39) |
R427G |
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 |
|
R2443:Ms4a6d
|
UTSW |
19 |
11,567,557 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- TGAACAGAGTTTTGAATCAGGGAAC -3'
(R):5'- TTGCAGACACTAGAGGGCATTG -3'
Sequencing Primer
(F):5'- TCAGGGAACAGAAGAAATATGCTGTC -3'
(R):5'- CACTAGAGGGCATTGAGAAATAAAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation