Incidental Mutation 'IGL01764:1700113H08Rik'
ID153634
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700113H08Rik
Ensembl Gene ENSMUSG00000047129
Gene NameRIKEN cDNA 1700113H08 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL01764
Quality Score
Status
Chromosome10
Chromosomal Location87058045-87230589 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 87074046 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000140447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169849] [ENSMUST00000189456]
Predicted Effect probably benign
Transcript: ENSMUST00000169849
AA Change: M1L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130852
Gene: ENSMUSG00000047129
AA Change: M1L

DomainStartEndE-ValueType
Pfam:DUF4607 71 325 2.1e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189456
AA Change: M1L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000140447
Gene: ENSMUSG00000047129
AA Change: M1L

DomainStartEndE-ValueType
Pfam:DUF4607 45 206 6.2e-38 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC025920 T A 10: 81,609,150 Y36N probably damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk11b G A 4: 155,628,803 R112H possibly damaging Het
Ctu2 G A 8: 122,479,422 probably benign Het
Ddx56 A C 11: 6,265,692 V219G probably null Het
Dnah14 T C 1: 181,744,777 V2891A probably benign Het
Fbn2 G T 18: 58,045,351 N1938K probably damaging Het
Fbxw20 A G 9: 109,223,359 M302T possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm10639 A T 9: 78,304,507 probably null Het
Gpat2 T C 2: 127,427,536 I36T probably benign Het
Hmcn2 A G 2: 31,405,630 E2617G possibly damaging Het
Krba1 C T 6: 48,415,836 R895W probably benign Het
Large2 G T 2: 92,367,186 probably benign Het
Lrp1b C T 2: 40,697,442 V165M unknown Het
Mapk1 T A 16: 16,983,733 M36K possibly damaging Het
Nf1 A G 11: 79,384,187 T25A probably benign Het
Nrxn3 G A 12: 90,204,750 V1316I possibly damaging Het
Pik3r4 G A 9: 105,685,122 probably benign Het
Plekhh1 G T 12: 79,054,905 A250S probably benign Het
Polr3g G A 13: 81,682,119 T145M possibly damaging Het
Prss32 A G 17: 23,856,111 D145G probably damaging Het
Rab11fip3 T C 17: 26,068,693 K162R probably benign Het
Spag7 A G 11: 70,664,107 probably benign Het
Spata2l T A 8: 123,234,175 Q125L probably benign Het
Tlr9 G T 9: 106,225,805 C765F probably damaging Het
Trip11 A T 12: 101,884,631 I773N probably damaging Het
Vcan T G 13: 89,725,388 T116P probably damaging Het
Vmn2r22 C T 6: 123,650,420 probably null Het
Yme1l1 T C 2: 23,162,544 I70T probably benign Het
Zfp938 T A 10: 82,227,790 probably benign Het
Other mutations in 1700113H08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:1700113H08Rik APN 10 87165123 missense probably damaging 1.00
IGL02173:1700113H08Rik APN 10 87225892 missense possibly damaging 0.63
IGL02756:1700113H08Rik APN 10 87165108 missense probably damaging 0.99
IGL03202:1700113H08Rik APN 10 87074047 start codon destroyed probably null 0.35
IGL03393:1700113H08Rik APN 10 87074038 utr 5 prime probably benign
R0255:1700113H08Rik UTSW 10 87226045 missense probably damaging 1.00
R0409:1700113H08Rik UTSW 10 87225954 missense probably damaging 0.98
R0744:1700113H08Rik UTSW 10 87165069 missense probably damaging 1.00
R0833:1700113H08Rik UTSW 10 87165069 missense probably damaging 1.00
R1163:1700113H08Rik UTSW 10 87121422 missense probably damaging 0.99
R2128:1700113H08Rik UTSW 10 87230204 missense possibly damaging 0.94
R2129:1700113H08Rik UTSW 10 87230204 missense possibly damaging 0.94
R4108:1700113H08Rik UTSW 10 87225934 missense probably damaging 1.00
R5541:1700113H08Rik UTSW 10 87225946 missense probably benign 0.00
R6345:1700113H08Rik UTSW 10 87226051 missense probably benign 0.43
R6372:1700113H08Rik UTSW 10 87230226 missense possibly damaging 0.92
R6710:1700113H08Rik UTSW 10 87226061 missense probably benign 0.00
R6971:1700113H08Rik UTSW 10 87165041 missense possibly damaging 0.91
R7055:1700113H08Rik UTSW 10 87226221 missense probably damaging 0.99
Posted On2014-02-04