Incidental Mutation 'IGL00805:4930402F06Rik'
| ID |
8460 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4930402F06Rik
|
| Ensembl Gene |
ENSMUSG00000079421 |
| Gene Name |
RIKEN cDNA 4930402F06 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00805
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
35265574-35287187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35270422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 93
(V93E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113009]
[ENSMUST00000113010]
|
| AlphaFold |
A2AUQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113009
AA Change: V62E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108632
Gene: ENSMUSG00000079421
AA Change: V62E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
4 |
299 |
4.7e-130 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113010
AA Change: V93E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108633
Gene: ENSMUSG00000079421
AA Change: V93E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_6
|
37 |
330 |
1.2e-124 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ampd3 |
A |
G |
7: 110,409,072 (GRCm39) |
I704V |
possibly damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,066,936 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,772,521 (GRCm39) |
Y3737C |
probably benign |
Het |
| Ercc4 |
G |
T |
16: 12,939,868 (GRCm39) |
V43L |
possibly damaging |
Het |
| Jam2 |
T |
C |
16: 84,612,054 (GRCm39) |
|
probably benign |
Het |
| Mrpl3 |
T |
A |
9: 104,941,305 (GRCm39) |
V204E |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,702,595 (GRCm39) |
M1187K |
probably benign |
Het |
| Sis |
C |
A |
3: 72,841,532 (GRCm39) |
R761I |
probably benign |
Het |
| Sos1 |
A |
G |
17: 80,705,953 (GRCm39) |
V1206A |
possibly damaging |
Het |
| Stxbp3 |
A |
T |
3: 108,723,667 (GRCm39) |
D189E |
probably benign |
Het |
| T |
T |
A |
17: 8,655,997 (GRCm39) |
D86E |
probably benign |
Het |
| Tek |
A |
T |
4: 94,686,956 (GRCm39) |
N158I |
probably damaging |
Het |
|
| Other mutations in 4930402F06Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00786:4930402F06Rik
|
APN |
2 |
35,265,851 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01647:4930402F06Rik
|
APN |
2 |
35,266,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01927:4930402F06Rik
|
APN |
2 |
35,266,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02315:4930402F06Rik
|
APN |
2 |
35,266,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02563:4930402F06Rik
|
APN |
2 |
35,270,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02655:4930402F06Rik
|
APN |
2 |
35,270,498 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03341:4930402F06Rik
|
APN |
2 |
35,265,906 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0102:4930402F06Rik
|
UTSW |
2 |
35,265,795 (GRCm39) |
nonsense |
probably null |
|
|
R0102:4930402F06Rik
|
UTSW |
2 |
35,265,795 (GRCm39) |
nonsense |
probably null |
|
|
R0309:4930402F06Rik
|
UTSW |
2 |
35,266,271 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0556:4930402F06Rik
|
UTSW |
2 |
35,280,482 (GRCm39) |
splice site |
probably benign |
|
|
R2089:4930402F06Rik
|
UTSW |
2 |
35,266,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2091:4930402F06Rik
|
UTSW |
2 |
35,266,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2091:4930402F06Rik
|
UTSW |
2 |
35,266,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2158:4930402F06Rik
|
UTSW |
2 |
35,275,680 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4027:4930402F06Rik
|
UTSW |
2 |
35,270,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:4930402F06Rik
|
UTSW |
2 |
35,266,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7755:4930402F06Rik
|
UTSW |
2 |
35,266,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8129:4930402F06Rik
|
UTSW |
2 |
35,266,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:4930402F06Rik
|
UTSW |
2 |
35,265,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8309:4930402F06Rik
|
UTSW |
2 |
35,279,599 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8550:4930402F06Rik
|
UTSW |
2 |
35,265,786 (GRCm39) |
nonsense |
probably null |
|
|
X0024:4930402F06Rik
|
UTSW |
2 |
35,279,617 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2012-12-06 |
Incidental Mutation