Incidental Mutation 'IGL03358:4930590J08Rik'
| ID |
420013 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4930590J08Rik
|
| Ensembl Gene |
ENSMUSG00000034063 |
| Gene Name |
RIKEN cDNA 4930590J08 gene |
| Synonyms |
LOC381798 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03358
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
91879790-91927706 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91905716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 496
(N496D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059318]
[ENSMUST00000205686]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059318
AA Change: N496D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: N496D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
109 |
N/A |
INTRINSIC |
|
Pfam:FAM194
|
357 |
561 |
4.1e-68 |
PFAM |
|
low complexity region
|
626 |
637 |
N/A |
INTRINSIC |
|
transmembrane domain
|
774 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
909 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205686
AA Change: N496D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
T |
C |
16: 64,586,909 (GRCm39) |
I272V |
possibly damaging |
Het |
| Adcy2 |
C |
T |
13: 68,877,396 (GRCm39) |
G448E |
probably damaging |
Het |
| Alad |
G |
A |
4: 62,428,844 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,860 (GRCm39) |
M193K |
probably benign |
Het |
| Cd300a |
G |
A |
11: 114,788,623 (GRCm39) |
M204I |
possibly damaging |
Het |
| Cep350 |
T |
A |
1: 155,804,285 (GRCm39) |
M933L |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,507,573 (GRCm39) |
N292I |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,946,387 (GRCm39) |
I536T |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,306,958 (GRCm39) |
R898C |
probably damaging |
Het |
| Oosp2 |
A |
T |
19: 11,628,933 (GRCm39) |
L56* |
probably null |
Het |
| Pars2 |
A |
T |
4: 106,510,239 (GRCm39) |
H7L |
probably benign |
Het |
| Pbx4 |
T |
C |
8: 70,311,761 (GRCm39) |
S59P |
probably benign |
Het |
| Psg20 |
G |
T |
7: 18,414,891 (GRCm39) |
H332N |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,206,069 (GRCm39) |
E841G |
possibly damaging |
Het |
| Slc6a13 |
G |
A |
6: 121,311,495 (GRCm39) |
V384I |
probably benign |
Het |
| Spg21 |
G |
A |
9: 65,387,698 (GRCm39) |
V164I |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,935,852 (GRCm39) |
C361* |
probably null |
Het |
| Tsr1 |
T |
C |
11: 74,794,824 (GRCm39) |
V493A |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,404,472 (GRCm39) |
|
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,554,989 (GRCm39) |
G79E |
probably damaging |
Het |
| Vmn1r81 |
T |
G |
7: 11,994,232 (GRCm39) |
R125S |
possibly damaging |
Het |
| Vmn2r45 |
A |
C |
7: 8,474,715 (GRCm39) |
L771R |
probably damaging |
Het |
| Vps54 |
T |
A |
11: 21,218,799 (GRCm39) |
H119Q |
probably damaging |
Het |
|
| Other mutations in 4930590J08Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:4930590J08Rik
|
APN |
6 |
91,896,099 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01478:4930590J08Rik
|
APN |
6 |
91,911,590 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01481:4930590J08Rik
|
APN |
6 |
91,910,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01485:4930590J08Rik
|
APN |
6 |
91,927,003 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01794:4930590J08Rik
|
APN |
6 |
91,895,093 (GRCm39) |
nonsense |
probably null |
|
|
IGL01795:4930590J08Rik
|
APN |
6 |
91,895,093 (GRCm39) |
nonsense |
probably null |
|
|
IGL02040:4930590J08Rik
|
APN |
6 |
91,895,091 (GRCm39) |
missense |
probably benign |
|
|
IGL02171:4930590J08Rik
|
APN |
6 |
91,921,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02968:4930590J08Rik
|
APN |
6 |
91,900,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4519001:4930590J08Rik
|
UTSW |
6 |
91,894,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:4930590J08Rik
|
UTSW |
6 |
91,892,127 (GRCm39) |
missense |
probably benign |
|
|
R0569:4930590J08Rik
|
UTSW |
6 |
91,919,559 (GRCm39) |
nonsense |
probably null |
|
|
R1536:4930590J08Rik
|
UTSW |
6 |
91,894,016 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1730:4930590J08Rik
|
UTSW |
6 |
91,896,259 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1758:4930590J08Rik
|
UTSW |
6 |
91,892,203 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1783:4930590J08Rik
|
UTSW |
6 |
91,896,259 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1911:4930590J08Rik
|
UTSW |
6 |
91,927,050 (GRCm39) |
splice site |
probably benign |
|
|
R1930:4930590J08Rik
|
UTSW |
6 |
91,892,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1936:4930590J08Rik
|
UTSW |
6 |
91,894,061 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2157:4930590J08Rik
|
UTSW |
6 |
91,919,468 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2157:4930590J08Rik
|
UTSW |
6 |
91,894,679 (GRCm39) |
splice site |
probably null |
|
|
R4072:4930590J08Rik
|
UTSW |
6 |
91,922,342 (GRCm39) |
splice site |
probably null |
|
|
R4662:4930590J08Rik
|
UTSW |
6 |
91,891,939 (GRCm39) |
missense |
probably benign |
|
|
R4900:4930590J08Rik
|
UTSW |
6 |
91,895,091 (GRCm39) |
missense |
probably benign |
|
|
R4936:4930590J08Rik
|
UTSW |
6 |
91,921,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5394:4930590J08Rik
|
UTSW |
6 |
91,896,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5887:4930590J08Rik
|
UTSW |
6 |
91,892,124 (GRCm39) |
nonsense |
probably null |
|
|
R5931:4930590J08Rik
|
UTSW |
6 |
91,896,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6174:4930590J08Rik
|
UTSW |
6 |
91,919,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6179:4930590J08Rik
|
UTSW |
6 |
91,919,311 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6380:4930590J08Rik
|
UTSW |
6 |
91,900,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6531:4930590J08Rik
|
UTSW |
6 |
91,926,980 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7570:4930590J08Rik
|
UTSW |
6 |
91,911,591 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7860:4930590J08Rik
|
UTSW |
6 |
91,905,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:4930590J08Rik
|
UTSW |
6 |
91,900,445 (GRCm39) |
nonsense |
probably null |
|
|
R7958:4930590J08Rik
|
UTSW |
6 |
91,911,464 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7968:4930590J08Rik
|
UTSW |
6 |
91,922,441 (GRCm39) |
missense |
|
|
|
R8111:4930590J08Rik
|
UTSW |
6 |
91,894,691 (GRCm39) |
missense |
probably benign |
|
|
R8953:4930590J08Rik
|
UTSW |
6 |
91,892,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9084:4930590J08Rik
|
UTSW |
6 |
91,892,016 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9154:4930590J08Rik
|
UTSW |
6 |
91,926,926 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9319:4930590J08Rik
|
UTSW |
6 |
91,922,446 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2016-08-02 |
Incidental Mutation