Incidental Mutation 'IGL02968:4930590J08Rik'
ID |
365700 |
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 # |
IGL02968
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
91879790-91927706 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 91900454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 441
(D441V)
|
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: D441V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053778 Gene: ENSMUSG00000034063 AA Change: D441V
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: D441V
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd1 |
T |
C |
X: 72,760,664 (GRCm39) |
S10P |
possibly damaging |
Het |
Acad12 |
T |
C |
5: 121,748,101 (GRCm39) |
S106G |
probably benign |
Het |
C1s1 |
T |
C |
6: 124,517,310 (GRCm39) |
T127A |
probably damaging |
Het |
Cela3a |
A |
G |
4: 137,131,132 (GRCm39) |
V202A |
probably damaging |
Het |
Cenpu |
T |
C |
8: 47,009,230 (GRCm39) |
|
probably null |
Het |
Dusp9 |
T |
C |
X: 72,685,039 (GRCm39) |
S222P |
probably benign |
Het |
Exoc5 |
A |
G |
14: 49,270,726 (GRCm39) |
|
probably null |
Het |
Foxp1 |
G |
T |
6: 99,052,822 (GRCm39) |
A90D |
probably damaging |
Het |
Krt12 |
G |
T |
11: 99,308,843 (GRCm39) |
A398E |
probably damaging |
Het |
Mtss1 |
G |
T |
15: 58,828,364 (GRCm39) |
T183K |
possibly damaging |
Het |
Napa |
T |
C |
7: 15,847,266 (GRCm39) |
|
probably benign |
Het |
Nlrp2 |
T |
C |
7: 5,304,024 (GRCm39) |
E167G |
possibly damaging |
Het |
Nos2 |
T |
C |
11: 78,828,463 (GRCm39) |
Y148H |
probably damaging |
Het |
Or2t43 |
T |
C |
11: 58,458,021 (GRCm39) |
D50G |
possibly damaging |
Het |
Or51aa5 |
C |
T |
7: 103,167,466 (GRCm39) |
V42M |
probably damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,451 (GRCm39) |
F163I |
possibly damaging |
Het |
Pde7a |
G |
A |
3: 19,297,285 (GRCm39) |
R122* |
probably null |
Het |
Pkdrej |
A |
T |
15: 85,700,382 (GRCm39) |
Y1851* |
probably null |
Het |
Rbl1 |
C |
T |
2: 157,019,194 (GRCm39) |
R517H |
probably damaging |
Het |
Rnf10 |
A |
T |
5: 115,383,947 (GRCm39) |
S661T |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,743,318 (GRCm39) |
D3886G |
probably damaging |
Het |
Samd9l |
A |
G |
6: 3,376,026 (GRCm39) |
Y412H |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,414,915 (GRCm39) |
S530P |
probably damaging |
Het |
Spam1 |
A |
G |
6: 24,796,442 (GRCm39) |
E131G |
possibly damaging |
Het |
Tmem185b |
C |
A |
1: 119,454,851 (GRCm39) |
A204E |
possibly damaging |
Het |
Tshz3 |
A |
G |
7: 36,469,249 (GRCm39) |
K413E |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,849,068 (GRCm39) |
S2448P |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,983,641 (GRCm39) |
S634G |
probably benign |
Het |
Zic1 |
G |
A |
9: 91,244,543 (GRCm39) |
T372M |
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 |
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 |
2015-12-18 |