Incidental Mutation 'IGL01623:4930596D02Rik'
ID278667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930596D02Rik
Ensembl Gene ENSMUSG00000041068
Gene NameRIKEN cDNA 4930596D02 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL01623
Quality Score
Status
Chromosome14
Chromosomal Location35809488-35811978 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 35810067 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 184 (Q184*)
Ref Sequence ENSEMBL: ENSMUSP00000039186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043266]
Predicted Effect probably null
Transcript: ENSMUST00000043266
AA Change: Q184*
SMART Domains Protein: ENSMUSP00000039186
Gene: ENSMUSG00000041068
AA Change: Q184*

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
RasGEFN 64 186 8.6e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A C 15: 60,917,893 I502S possibly damaging Het
Actl11 T C 9: 107,928,576 S33P probably benign Het
Aftph G T 11: 20,709,632 D730E probably damaging Het
Arhgap29 A G 3: 121,974,124 probably benign Het
Brf1 T G 12: 112,961,175 E643A probably benign Het
Caskin1 G T 17: 24,503,940 probably null Het
Ccnjl T C 11: 43,585,327 V259A probably benign Het
Ccser2 G T 14: 36,940,963 T88K probably benign Het
Cdk17 T C 10: 93,238,962 probably benign Het
Clec16a G A 16: 10,577,910 S309N possibly damaging Het
Cpxm1 C A 2: 130,391,271 A633S probably benign Het
Ctnnbl1 A T 2: 157,819,548 N326I probably damaging Het
Cyp46a1 T C 12: 108,351,975 V215A possibly damaging Het
Dnah6 T C 6: 73,144,718 Y1427C probably damaging Het
Dpy19l3 G A 7: 35,722,744 T228I probably damaging Het
Fam131c C T 4: 141,382,450 A131V possibly damaging Het
Fam71e2 A G 7: 4,758,723 V330A probably benign Het
Fat1 A G 8: 45,029,555 T3061A possibly damaging Het
Fgl2 T A 5: 21,373,177 L154H possibly damaging Het
Fhod3 T A 18: 25,022,867 I514K probably benign Het
Frem3 A G 8: 80,613,915 T946A probably benign Het
Gan T A 8: 117,187,178 V105D probably damaging Het
Gm28043 T C 17: 29,676,248 F134L probably benign Het
Gramd1c A G 16: 43,990,698 V221A probably damaging Het
Hacd1 A G 2: 14,035,856 V196A probably benign Het
Kcna6 C A 6: 126,738,613 V438L probably damaging Het
Klhl41 T C 2: 69,678,238 V512A probably benign Het
Lrfn1 A G 7: 28,466,686 T502A probably damaging Het
Notch3 A T 17: 32,158,870 F105I possibly damaging Het
Olfr1023 A T 2: 85,886,962 H54L probably benign Het
Olfr142 T G 2: 90,252,609 K126N probably damaging Het
P3h1 C T 4: 119,235,283 T171I probably damaging Het
Pcdhb1 A G 18: 37,266,313 E439G possibly damaging Het
Pik3c3 A T 18: 30,290,525 K225* probably null Het
Pik3c3 A G 18: 30,293,049 probably benign Het
Pik3r5 T A 11: 68,486,626 probably null Het
Pnpt1 A C 11: 29,148,272 probably benign Het
Ppp2r1b T A 9: 50,878,122 V495D probably damaging Het
Rbfox3 C A 11: 118,505,614 probably benign Het
Sec14l2 G A 11: 4,103,966 P234S possibly damaging Het
Sec16a A C 2: 26,438,903 D1033E probably benign Het
Sept14 A G 5: 129,685,955 V357A probably damaging Het
Setx T C 2: 29,163,009 V2095A possibly damaging Het
Sf3a3 C T 4: 124,718,343 T131I possibly damaging Het
Snrpa A T 7: 27,192,970 M55K probably benign Het
Swt1 G T 1: 151,411,009 T244N probably benign Het
Tbl1xr1 A G 3: 22,192,074 T253A probably benign Het
Tst G T 15: 78,399,764 R288S probably benign Het
Vmn2r60 A G 7: 42,136,486 I238V probably benign Het
Zbtb14 A G 17: 69,388,189 K294R probably benign Het
Zfp710 T A 7: 80,081,123 V16E probably damaging Het
Zfpm2 A G 15: 41,101,924 T602A probably benign Het
Zfr2 G A 10: 81,251,359 M850I probably benign Het
Other mutations in 4930596D02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:4930596D02Rik APN 14 35810213 missense possibly damaging 0.95
IGL01622:4930596D02Rik APN 14 35810067 nonsense probably null
IGL02049:4930596D02Rik APN 14 35811578 missense probably benign 0.19
IGL02275:4930596D02Rik APN 14 35811923 missense probably benign 0.44
IGL02668:4930596D02Rik APN 14 35810117 missense probably benign 0.02
IGL02684:4930596D02Rik APN 14 35810063 nonsense probably null
R0178:4930596D02Rik UTSW 14 35811478 missense probably benign 0.44
R0601:4930596D02Rik UTSW 14 35810189 missense probably damaging 1.00
R0609:4930596D02Rik UTSW 14 35811461 critical splice donor site probably null
R1664:4930596D02Rik UTSW 14 35811815 missense probably benign 0.01
R1899:4930596D02Rik UTSW 14 35810132 missense probably damaging 1.00
R5153:4930596D02Rik UTSW 14 35810255 missense probably benign 0.00
R6222:4930596D02Rik UTSW 14 35809966 makesense probably null
R6935:4930596D02Rik UTSW 14 35811907 missense probably benign
R7314:4930596D02Rik UTSW 14 35811649 missense probably benign
Posted On2015-04-16