Incidental Mutation 'IGL01927:4930402F06Rik'
| ID |
180323 |
| 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 # |
IGL01927
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
35265574-35287187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35266026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 215
(Y215H)
|
| 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: Y184H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108632
Gene: ENSMUSG00000079421
AA Change: Y184H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
4 |
299 |
4.7e-130 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113010
AA Change: Y215H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108633
Gene: ENSMUSG00000079421
AA Change: Y215H
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
C |
7: 119,177,435 (GRCm39) |
F317L |
possibly damaging |
Het |
| Akr1d1 |
A |
G |
6: 37,541,394 (GRCm39) |
D297G |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,150,231 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
T |
C |
2: 126,164,896 (GRCm39) |
Y1140C |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,789,109 (GRCm39) |
S105T |
probably benign |
Het |
| Cspg5 |
A |
T |
9: 110,091,152 (GRCm39) |
I414F |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,526,127 (GRCm39) |
M354V |
probably benign |
Het |
| Ereg |
T |
A |
5: 91,234,671 (GRCm39) |
V28E |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Ift81 |
G |
A |
5: 122,731,192 (GRCm39) |
T321M |
probably benign |
Het |
| Kcnip2 |
T |
A |
19: 45,784,044 (GRCm39) |
Q95L |
probably damaging |
Het |
| Meis1 |
C |
T |
11: 18,831,811 (GRCm39) |
R409H |
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,405,813 (GRCm39) |
I126T |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,106,477 (GRCm39) |
Y295H |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,640,848 (GRCm39) |
V1005E |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,246,694 (GRCm39) |
|
probably benign |
Het |
| Rptor |
T |
A |
11: 119,548,500 (GRCm39) |
V58E |
probably damaging |
Het |
| Togaram1 |
C |
T |
12: 65,023,476 (GRCm39) |
A687V |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,105 (GRCm39) |
F15L |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r82 |
T |
C |
10: 79,213,906 (GRCm39) |
L164P |
probably damaging |
Het |
| Zfp623 |
T |
A |
15: 75,819,354 (GRCm39) |
N103K |
possibly 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 |
|
IGL00805:4930402F06Rik
|
APN |
2 |
35,270,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01647:4930402F06Rik
|
APN |
2 |
35,266,097 (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 |
2014-05-07 |
Incidental Mutation