Incidental Mutation 'IGL02171:4930590J08Rik'
| ID |
283543 |
| 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 # |
IGL02171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
91879790-91927706 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91921237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 772
(I772M)
|
| 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: I772M
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: I772M
| 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: ENSMUST00000205569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205686
AA Change: I772M
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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
C |
A |
9: 44,186,306 (GRCm39) |
|
probably benign |
Het |
| Abo |
A |
G |
2: 26,738,969 (GRCm39) |
I18T |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,777,921 (GRCm39) |
|
probably benign |
Het |
| Apbb1 |
A |
G |
7: 105,208,333 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
G |
A |
5: 67,895,808 (GRCm39) |
S557L |
probably damaging |
Het |
| Bora |
G |
T |
14: 99,284,758 (GRCm39) |
D3Y |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,246,972 (GRCm39) |
D323G |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,240,417 (GRCm39) |
V55E |
probably damaging |
Het |
| Dync1i1 |
G |
T |
6: 5,969,498 (GRCm39) |
R441L |
probably damaging |
Het |
| Ecd |
T |
A |
14: 20,370,895 (GRCm39) |
Y608F |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,853,900 (GRCm39) |
T489A |
probably benign |
Het |
| Erlin1 |
A |
G |
19: 44,037,555 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,883,040 (GRCm39) |
E2524G |
probably benign |
Het |
| Garem1 |
C |
T |
18: 21,262,298 (GRCm39) |
D839N |
probably damaging |
Het |
| Gdap1l1 |
T |
A |
2: 163,289,470 (GRCm39) |
V145E |
possibly damaging |
Het |
| Gvin3 |
G |
T |
7: 106,200,548 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
A |
T |
8: 111,178,590 (GRCm39) |
K1062* |
probably null |
Het |
| Igkv4-92 |
T |
C |
6: 68,732,573 (GRCm39) |
D2G |
probably benign |
Het |
| Lemd3 |
T |
A |
10: 120,769,527 (GRCm39) |
|
probably benign |
Het |
| Mbl1 |
C |
T |
14: 40,876,455 (GRCm39) |
|
probably benign |
Het |
| Mdh1 |
T |
C |
11: 21,507,438 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,945,578 (GRCm39) |
|
probably null |
Het |
| Nrxn3 |
C |
A |
12: 89,159,933 (GRCm39) |
P20T |
probably damaging |
Het |
| Nudt1 |
A |
G |
5: 140,323,348 (GRCm39) |
E100G |
probably damaging |
Het |
| Or2y1e |
T |
A |
11: 49,218,862 (GRCm39) |
F208Y |
possibly damaging |
Het |
| Or9g4 |
T |
A |
2: 85,505,285 (GRCm39) |
D70V |
probably damaging |
Het |
| Palb2 |
A |
C |
7: 121,706,809 (GRCm39) |
S1083A |
probably damaging |
Het |
| Phc2 |
T |
G |
4: 128,604,858 (GRCm39) |
F198C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,379,542 (GRCm39) |
D1056G |
possibly damaging |
Het |
| Psg17 |
A |
G |
7: 18,552,712 (GRCm39) |
Y188H |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,103,543 (GRCm39) |
I1906F |
probably damaging |
Het |
| Sidt2 |
C |
A |
9: 45,864,068 (GRCm39) |
R150L |
possibly damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,314,043 (GRCm39) |
I144T |
probably damaging |
Het |
| Trip4 |
A |
G |
9: 65,788,332 (GRCm39) |
S38P |
probably damaging |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wdr72 |
A |
T |
9: 74,117,816 (GRCm39) |
M843L |
possibly damaging |
Het |
| Zfp595 |
T |
A |
13: 67,464,719 (GRCm39) |
N518Y |
possibly 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 |
|
|
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 |
2015-04-16 |
Incidental Mutation