Incidental Mutation 'IGL01478:4930590J08Rik'
ID |
88519 |
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 # |
IGL01478
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
91879790-91927706 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91911590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 613
(T613A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059318]
[ENSMUST00000205686]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059318
AA Change: T613A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000053778 Gene: ENSMUSG00000034063 AA Change: T613A
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 |
noncoding transcript
Transcript: ENSMUST00000205414
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205686
AA Change: T613A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdh16 |
G |
T |
8: 105,341,120 (GRCm39) |
|
probably benign |
Het |
Epn2 |
A |
G |
11: 61,413,912 (GRCm39) |
S419P |
probably benign |
Het |
Eral1 |
A |
T |
11: 77,966,558 (GRCm39) |
V234D |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,678,949 (GRCm39) |
K576E |
possibly damaging |
Het |
Frmd4b |
T |
A |
6: 97,305,254 (GRCm39) |
D170V |
probably damaging |
Het |
Gm4353 |
A |
G |
7: 115,682,975 (GRCm39) |
V202A |
possibly damaging |
Het |
Ighmbp2 |
A |
G |
19: 3,324,531 (GRCm39) |
I245T |
probably benign |
Het |
Igsf23 |
G |
A |
7: 19,672,161 (GRCm39) |
|
probably benign |
Het |
Krt1 |
A |
G |
15: 101,754,721 (GRCm39) |
|
probably benign |
Het |
Mapk8 |
A |
G |
14: 33,105,857 (GRCm39) |
V371A |
probably benign |
Het |
Mtrf1 |
T |
G |
14: 79,640,360 (GRCm39) |
|
probably benign |
Het |
Myzap |
A |
G |
9: 71,422,349 (GRCm39) |
|
probably null |
Het |
Nsrp1 |
C |
T |
11: 76,941,478 (GRCm39) |
V73I |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or52e18 |
A |
G |
7: 104,609,555 (GRCm39) |
I128T |
probably damaging |
Het |
Or8k39 |
A |
T |
2: 86,563,673 (GRCm39) |
Y94* |
probably null |
Het |
Pex6 |
C |
T |
17: 47,036,230 (GRCm39) |
R976C |
probably benign |
Het |
Ranbp9 |
G |
A |
13: 43,567,560 (GRCm39) |
T546I |
probably benign |
Het |
Rfx5 |
T |
C |
3: 94,865,751 (GRCm39) |
V350A |
possibly damaging |
Het |
Rnf19b |
A |
G |
4: 128,952,623 (GRCm39) |
E187G |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,183,946 (GRCm39) |
V1217A |
probably damaging |
Het |
Sfmbt1 |
T |
A |
14: 30,533,478 (GRCm39) |
D618E |
probably damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,493,672 (GRCm39) |
E1697G |
probably benign |
Het |
Syk |
A |
G |
13: 52,778,784 (GRCm39) |
Y290C |
probably benign |
Het |
Trim69 |
T |
C |
2: 122,008,924 (GRCm39) |
L328P |
probably damaging |
Het |
Unc5c |
T |
A |
3: 141,534,212 (GRCm39) |
I911N |
probably damaging |
Het |
Wdr5 |
T |
C |
2: 27,423,844 (GRCm39) |
V294A |
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 |
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 |
IGL03358:4930590J08Rik
|
APN |
6 |
91,905,716 (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 |
2013-11-18 |