Incidental Mutation 'IGL02627:Ms4a4d'
| ID |
301135 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ms4a4d
|
| Ensembl Gene |
ENSMUSG00000024678 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 4D |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL02627
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11514165-11535831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11525987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 40
(E40D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025581]
|
| AlphaFold |
Q99N05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025581
AA Change: E40D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025581
Gene: ENSMUSG00000024678
AA Change: E40D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
43 |
141 |
1.5e-18 |
PFAM |
|
transmembrane domain
|
146 |
168 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
A |
2: 30,685,777 (GRCm39) |
K353M |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,157,302 (GRCm39) |
Y100H |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap418 |
G |
A |
4: 10,898,039 (GRCm39) |
C207Y |
probably damaging |
Het |
| Ckap5 |
A |
T |
2: 91,406,366 (GRCm39) |
N752I |
probably damaging |
Het |
| Dgkz |
T |
A |
2: 91,769,055 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
A |
11: 16,819,346 (GRCm39) |
V292E |
probably damaging |
Het |
| Gnb3 |
T |
C |
6: 124,811,678 (GRCm39) |
T329A |
probably damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,810 (GRCm39) |
T40S |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,724,120 (GRCm39) |
|
probably benign |
Het |
| Mbip |
T |
C |
12: 56,382,590 (GRCm39) |
Q292R |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,874,442 (GRCm39) |
Y625H |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,562,156 (GRCm39) |
E1003G |
possibly damaging |
Het |
| Ncf2 |
G |
A |
1: 152,686,759 (GRCm39) |
|
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,636,714 (GRCm39) |
V529A |
probably damaging |
Het |
| Osr2 |
A |
G |
15: 35,300,600 (GRCm39) |
N52S |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,606,593 (GRCm39) |
D778G |
possibly damaging |
Het |
| Rsl1d1 |
G |
T |
16: 11,012,415 (GRCm39) |
A337E |
possibly damaging |
Het |
| Sall3 |
A |
T |
18: 81,015,576 (GRCm39) |
L784Q |
possibly damaging |
Het |
| Spen |
A |
G |
4: 141,200,326 (GRCm39) |
I2744T |
probably damaging |
Het |
| Tfip11 |
A |
C |
5: 112,477,679 (GRCm39) |
S145R |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,518,295 (GRCm39) |
D559G |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,328,229 (GRCm39) |
S325T |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,771,472 (GRCm39) |
V472D |
probably damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,746 (GRCm39) |
T29S |
probably benign |
Het |
| Vps29 |
T |
C |
5: 122,500,908 (GRCm39) |
S158P |
probably benign |
Het |
| Wdr82 |
T |
C |
9: 106,053,886 (GRCm39) |
V79A |
possibly damaging |
Het |
| Wfdc16 |
T |
A |
2: 164,480,383 (GRCm39) |
E37D |
possibly damaging |
Het |
|
| Other mutations in Ms4a4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00718:Ms4a4d
|
APN |
19 |
11,535,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00951:Ms4a4d
|
APN |
19 |
11,532,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02806:Ms4a4d
|
APN |
19 |
11,533,610 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02868:Ms4a4d
|
APN |
19 |
11,527,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Ms4a4d
|
UTSW |
19 |
11,532,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1134:Ms4a4d
|
UTSW |
19 |
11,535,298 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4932:Ms4a4d
|
UTSW |
19 |
11,535,296 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5169:Ms4a4d
|
UTSW |
19 |
11,535,340 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5390:Ms4a4d
|
UTSW |
19 |
11,526,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6581:Ms4a4d
|
UTSW |
19 |
11,532,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7014:Ms4a4d
|
UTSW |
19 |
11,525,947 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7429:Ms4a4d
|
UTSW |
19 |
11,535,297 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7430:Ms4a4d
|
UTSW |
19 |
11,535,297 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8132:Ms4a4d
|
UTSW |
19 |
11,535,310 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8872:Ms4a4d
|
UTSW |
19 |
11,530,251 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8927:Ms4a4d
|
UTSW |
19 |
11,533,574 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8928:Ms4a4d
|
UTSW |
19 |
11,533,574 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9005:Ms4a4d
|
UTSW |
19 |
11,533,564 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2015-04-16 |
Incidental Mutation