Incidental Mutation 'IGL01764:1700113H08Rik'
ID 153634
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700113H08Rik
Ensembl Gene ENSMUSG00000047129
Gene Name RIKEN cDNA 1700113H08 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01764
Quality Score
Status
Chromosome 10
Chromosomal Location 86893909-87066451 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 86909910 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold E9Q9Q5
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: 81,444,984 (GRCm39) Y36N probably damaging Het
Cdk11b G A 4: 155,713,260 (GRCm39) R112H possibly damaging Het
Ctu2 G A 8: 123,206,161 (GRCm39) probably benign Het
Ddx56 A C 11: 6,215,692 (GRCm39) V219G probably null Het
Dnah14 T C 1: 181,572,342 (GRCm39) V2891A probably benign Het
Fbn2 G T 18: 58,178,423 (GRCm39) N1938K probably damaging Het
Fbxw20 A G 9: 109,052,427 (GRCm39) M302T possibly damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gpat2 T C 2: 127,269,456 (GRCm39) I36T probably benign Het
Gsta5 A T 9: 78,211,789 (GRCm39) probably null Het
Hmcn2 A G 2: 31,295,642 (GRCm39) E2617G possibly damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Krba1 C T 6: 48,392,770 (GRCm39) R895W probably benign Het
Large2 G T 2: 92,197,531 (GRCm39) probably benign Het
Lrp1b C T 2: 40,587,454 (GRCm39) V165M unknown Het
Mapk1 T A 16: 16,801,597 (GRCm39) M36K possibly damaging Het
Nf1 A G 11: 79,275,013 (GRCm39) T25A probably benign Het
Nrxn3 G A 12: 90,171,524 (GRCm39) V1316I possibly damaging Het
Pik3r4 G A 9: 105,562,321 (GRCm39) probably benign Het
Plekhh1 G T 12: 79,101,679 (GRCm39) A250S probably benign Het
Polr3g G A 13: 81,830,238 (GRCm39) T145M possibly damaging Het
Prss32 A G 17: 24,075,085 (GRCm39) D145G probably damaging Het
Rab11fip3 T C 17: 26,287,667 (GRCm39) K162R probably benign Het
Spag7 A G 11: 70,554,933 (GRCm39) probably benign Het
Spata2l T A 8: 123,960,914 (GRCm39) Q125L probably benign Het
Tlr9 G T 9: 106,103,004 (GRCm39) C765F probably damaging Het
Trip11 A T 12: 101,850,890 (GRCm39) I773N probably damaging Het
Vcan T G 13: 89,873,507 (GRCm39) T116P probably damaging Het
Vmn2r22 C T 6: 123,627,379 (GRCm39) probably null Het
Yme1l1 T C 2: 23,052,556 (GRCm39) I70T probably benign Het
Zfp938 T A 10: 82,063,624 (GRCm39) probably benign Het
Other mutations in 1700113H08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:1700113H08Rik APN 10 87,000,985 (GRCm39) missense probably damaging 1.00
IGL02173:1700113H08Rik APN 10 87,061,754 (GRCm39) missense possibly damaging 0.63
IGL02756:1700113H08Rik APN 10 87,000,970 (GRCm39) missense probably damaging 0.99
IGL03202:1700113H08Rik APN 10 86,909,911 (GRCm39) start codon destroyed probably null 0.35
IGL03393:1700113H08Rik APN 10 86,909,902 (GRCm39) utr 5 prime probably benign
R0255:1700113H08Rik UTSW 10 87,061,907 (GRCm39) missense probably damaging 1.00
R0409:1700113H08Rik UTSW 10 87,061,816 (GRCm39) missense probably damaging 0.98
R0744:1700113H08Rik UTSW 10 87,000,931 (GRCm39) missense probably damaging 1.00
R0833:1700113H08Rik UTSW 10 87,000,931 (GRCm39) missense probably damaging 1.00
R1163:1700113H08Rik UTSW 10 86,957,284 (GRCm39) missense probably damaging 0.99
R2128:1700113H08Rik UTSW 10 87,066,066 (GRCm39) missense possibly damaging 0.94
R2129:1700113H08Rik UTSW 10 87,066,066 (GRCm39) missense possibly damaging 0.94
R4108:1700113H08Rik UTSW 10 87,061,796 (GRCm39) missense probably damaging 1.00
R5541:1700113H08Rik UTSW 10 87,061,808 (GRCm39) missense probably benign 0.00
R6345:1700113H08Rik UTSW 10 87,061,913 (GRCm39) missense probably benign 0.43
R6372:1700113H08Rik UTSW 10 87,066,088 (GRCm39) missense possibly damaging 0.92
R6710:1700113H08Rik UTSW 10 87,061,923 (GRCm39) missense probably benign 0.00
R6971:1700113H08Rik UTSW 10 87,000,903 (GRCm39) missense possibly damaging 0.91
R7055:1700113H08Rik UTSW 10 87,062,083 (GRCm39) missense probably damaging 0.99
R7713:1700113H08Rik UTSW 10 87,066,173 (GRCm39) missense possibly damaging 0.80
R7808:1700113H08Rik UTSW 10 86,957,297 (GRCm39) missense probably benign 0.33
R7838:1700113H08Rik UTSW 10 87,042,061 (GRCm39) splice site probably null
R8293:1700113H08Rik UTSW 10 87,061,864 (GRCm39) missense possibly damaging 0.92
R9041:1700113H08Rik UTSW 10 87,062,054 (GRCm39) missense probably benign 0.03
R9351:1700113H08Rik UTSW 10 87,066,068 (GRCm39) missense probably benign 0.27
Posted On 2014-02-04