Incidental Mutation 'IGL03197:1700030J22Rik'
ID412876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700030J22Rik
Ensembl Gene ENSMUSG00000031847
Gene NameRIKEN cDNA 1700030J22 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL03197
Quality Score
Status
Chromosome8
Chromosomal Location116969594-116978959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116971802 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 189 (W189R)
Ref Sequence ENSEMBL: ENSMUSP00000148789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070577] [ENSMUST00000213068]
Predicted Effect probably damaging
Transcript: ENSMUST00000070577
AA Change: W189R

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070601
Gene: ENSMUSG00000031847
AA Change: W189R

DomainStartEndE-ValueType
Pfam:DUF4529 1 409 7.5e-188 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213068
AA Change: W189R

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb7 A T X: 104,284,191 M704K possibly damaging Het
Anp32e A G 3: 95,937,052 D71G probably damaging Het
Asphd1 T C 7: 126,946,126 D353G probably damaging Het
Baz2b T C 2: 59,901,554 K2047E possibly damaging Het
Cyp2c39 G T 19: 39,566,917 V394F probably damaging Het
Ddx43 G A 9: 78,418,120 M482I probably benign Het
Dnah2 A T 11: 69,459,263 V2348E probably damaging Het
Fam135a A G 1: 24,044,182 F304L probably damaging Het
Gabra3 A G X: 72,540,128 I66T possibly damaging Het
Gm5861 T G 5: 11,183,113 N14K probably damaging Het
Gm8857 T A 5: 10,950,534 probably benign Het
Irf4 A T 13: 30,763,520 probably benign Het
Kif11 A G 19: 37,407,027 D578G probably benign Het
Lrig1 A G 6: 94,606,118 S1006P probably benign Het
Mfsd14a A C 3: 116,636,363 S307A probably benign Het
Mill1 A G 7: 18,264,665 T267A probably benign Het
Nfyc C A 4: 120,773,761 D62Y probably damaging Het
Nin T C 12: 70,026,810 T1190A probably benign Het
Nupl2 T C 5: 24,167,465 S84P probably damaging Het
Ociad1 T C 5: 73,294,332 S15P probably benign Het
Olfr1199 A T 2: 88,756,201 I158K probably damaging Het
Olfr822 A T 10: 130,074,679 I90F probably damaging Het
Olfr843 A G 9: 19,248,802 I199T probably benign Het
Pcdhb11 T A 18: 37,422,424 L269* probably null Het
Pigo A C 4: 43,022,103 M352R possibly damaging Het
Plch1 T C 3: 63,753,170 M343V probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Prkag1 A G 15: 98,815,177 probably benign Het
Rasa4 A G 5: 136,102,012 K379R probably damaging Het
Rraga G A 4: 86,576,276 A120T probably damaging Het
Serpina3a C T 12: 104,116,241 A91V probably damaging Het
Sik2 T C 9: 50,895,773 E779G probably damaging Het
Slc15a3 T G 19: 10,855,079 probably null Het
Smc1b C T 15: 85,070,863 D1063N possibly damaging Het
Srsf12 G A 4: 33,231,040 G183E probably damaging Het
Taf8 A G 17: 47,498,202 S112P probably benign Het
Trhde A G 10: 114,413,308 L851P probably benign Het
Wapl G T 14: 34,745,631 V1182F possibly damaging Het
Zfp326 A G 5: 105,891,193 I231V probably benign Het
Other mutations in 1700030J22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:1700030J22Rik APN 8 116973540 missense probably damaging 0.99
R1372:1700030J22Rik UTSW 8 116971957 missense possibly damaging 0.62
R2170:1700030J22Rik UTSW 8 116971157 missense probably damaging 1.00
R4893:1700030J22Rik UTSW 8 116971165 missense probably damaging 1.00
R5056:1700030J22Rik UTSW 8 116971682 nonsense probably null
R5089:1700030J22Rik UTSW 8 116971933 missense possibly damaging 0.55
R7380:1700030J22Rik UTSW 8 116973637 missense probably benign 0.25
Z1176:1700030J22Rik UTSW 8 116973597 missense probably benign 0.08
Posted On2016-08-02