Incidental Mutation 'IGL01142:Ms4a4c'
| ID |
53297 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ms4a4c
|
| Ensembl Gene |
ENSMUSG00000024675 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 4C |
| Synonyms |
5830413L19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL01142
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11382134-11404610 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11403614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 157
(T157A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072729]
[ENSMUST00000119366]
|
| AlphaFold |
Q9D3F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072729
AA Change: T199A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072512
Gene: ENSMUSG00000024675
AA Change: T199A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
43 |
142 |
1.7e-20 |
PFAM |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119366
AA Change: T157A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113130
Gene: ENSMUSG00000024675
AA Change: T157A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
35 |
179 |
3.9e-30 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc3 |
C |
T |
2: 19,302,709 (GRCm39) |
|
probably benign |
Het |
| Cacnb3 |
T |
A |
15: 98,539,883 (GRCm39) |
L269* |
probably null |
Het |
| Calu |
T |
C |
6: 29,366,207 (GRCm39) |
|
probably null |
Het |
| Cep97 |
A |
G |
16: 55,742,561 (GRCm39) |
S129P |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,303,196 (GRCm39) |
M620V |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,234,538 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,963,477 (GRCm39) |
K410R |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,571,297 (GRCm39) |
|
probably benign |
Het |
| Helb |
A |
T |
10: 119,947,049 (GRCm39) |
V88D |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,024,960 (GRCm39) |
E19G |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,344 (GRCm39) |
Y112H |
probably damaging |
Het |
| Lin52 |
T |
C |
12: 84,503,009 (GRCm39) |
|
probably benign |
Het |
| Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
| Or7g17 |
A |
G |
9: 18,768,830 (GRCm39) |
N303S |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,931,765 (GRCm39) |
T472A |
probably benign |
Het |
| Sez6 |
T |
G |
11: 77,864,642 (GRCm39) |
V534G |
probably damaging |
Het |
| Sim1 |
C |
A |
10: 50,786,767 (GRCm39) |
T333K |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem115 |
A |
G |
9: 107,411,844 (GRCm39) |
N56S |
possibly damaging |
Het |
| Ubac1 |
T |
C |
2: 25,896,580 (GRCm39) |
I150V |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,664,479 (GRCm39) |
K1455E |
possibly damaging |
Het |
| Yrdc |
T |
C |
4: 124,747,787 (GRCm39) |
F97L |
probably damaging |
Het |
|
| Other mutations in Ms4a4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Ms4a4c
|
APN |
19 |
11,396,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00687:Ms4a4c
|
APN |
19 |
11,398,682 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03128:Ms4a4c
|
APN |
19 |
11,395,005 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02980:Ms4a4c
|
UTSW |
19 |
11,393,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0012:Ms4a4c
|
UTSW |
19 |
11,396,344 (GRCm39) |
unclassified |
probably benign |
|
|
R3852:Ms4a4c
|
UTSW |
19 |
11,393,759 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4421:Ms4a4c
|
UTSW |
19 |
11,393,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5209:Ms4a4c
|
UTSW |
19 |
11,393,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Ms4a4c
|
UTSW |
19 |
11,403,593 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6439:Ms4a4c
|
UTSW |
19 |
11,398,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6967:Ms4a4c
|
UTSW |
19 |
11,392,191 (GRCm39) |
missense |
probably benign |
|
|
R8552:Ms4a4c
|
UTSW |
19 |
11,392,196 (GRCm39) |
nonsense |
probably null |
|
|
R9006:Ms4a4c
|
UTSW |
19 |
11,396,360 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9448:Ms4a4c
|
UTSW |
19 |
11,392,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Ms4a4c
|
UTSW |
19 |
11,398,673 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2013-06-21 |
Incidental Mutation