Incidental Mutation 'IGL03128:Ms4a4c'
| ID |
410227 |
| 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 # |
IGL03128
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11382134-11404610 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 11395005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072729]
[ENSMUST00000072729]
[ENSMUST00000119366]
[ENSMUST00000119366]
[ENSMUST00000153546]
|
| AlphaFold |
Q9D3F6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072729
|
| SMART Domains |
Protein: ENSMUSP00000072512
Gene: ENSMUSG00000024675
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
43 |
142 |
1.7e-20 |
PFAM |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000072729
|
| SMART Domains |
Protein: ENSMUSP00000072512
Gene: ENSMUSG00000024675
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
43 |
142 |
1.7e-20 |
PFAM |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119366
|
| SMART Domains |
Protein: ENSMUSP00000113130
Gene: ENSMUSG00000024675
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
35 |
179 |
3.9e-30 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119366
|
| SMART Domains |
Protein: ENSMUSP00000113130
Gene: ENSMUSG00000024675
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
35 |
179 |
3.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153546
|
| SMART Domains |
Protein: ENSMUSP00000118694
Gene: ENSMUSG00000024675
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
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 |
|---|
| Acox1 |
A |
T |
11: 116,072,829 (GRCm39) |
L114M |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,159,260 (GRCm39) |
|
probably benign |
Het |
| Btrc |
T |
A |
19: 45,501,959 (GRCm39) |
I226N |
probably damaging |
Het |
| Cth |
C |
T |
3: 157,626,672 (GRCm39) |
G56D |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,883,621 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,909,491 (GRCm39) |
M271K |
probably benign |
Het |
| Fam78b |
T |
A |
1: 166,906,510 (GRCm39) |
L223Q |
probably damaging |
Het |
| Fgl2 |
A |
T |
5: 21,578,291 (GRCm39) |
M193L |
probably benign |
Het |
| Ifi205 |
A |
T |
1: 173,842,652 (GRCm39) |
V348E |
probably damaging |
Het |
| Igkv4-70 |
T |
A |
6: 69,244,998 (GRCm39) |
K74N |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,960,480 (GRCm39) |
K1355M |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,212,832 (GRCm39) |
N576K |
probably benign |
Het |
| Nfic |
T |
C |
10: 81,242,025 (GRCm39) |
T328A |
probably benign |
Het |
| Npat |
T |
A |
9: 53,461,333 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,230,798 (GRCm39) |
I524V |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,054 (GRCm39) |
E486K |
probably benign |
Het |
| Pde9a |
C |
T |
17: 31,678,884 (GRCm39) |
H216Y |
possibly damaging |
Het |
| Polr2k |
C |
A |
15: 36,174,337 (GRCm39) |
P31Q |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,518,608 (GRCm39) |
|
probably benign |
Het |
| Raver1 |
A |
T |
9: 20,992,038 (GRCm39) |
L385Q |
probably damaging |
Het |
| Slc10a7 |
C |
A |
8: 79,251,846 (GRCm39) |
T80K |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,802,282 (GRCm39) |
K272R |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,615,708 (GRCm39) |
I200V |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,892,714 (GRCm39) |
N4S |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,882,781 (GRCm39) |
S356P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,891,829 (GRCm39) |
Y903C |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,268,795 (GRCm39) |
F333V |
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 |
|
IGL01142:Ms4a4c
|
APN |
19 |
11,403,614 (GRCm39) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation