Incidental Mutation 'IGL01798:1700017B05Rik'
ID 155420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700017B05Rik
Ensembl Gene ENSMUSG00000032300
Gene Name RIKEN cDNA 1700017B05 gene
Synonyms D9Ertd278e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # IGL01798
Quality Score
Status
Chromosome 9
Chromosomal Location 57160400-57169895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57163921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 818 (I818V)
Ref Sequence ENSEMBL: ENSMUSP00000150884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034846] [ENSMUST00000213199] [ENSMUST00000215298] [ENSMUST00000217657]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034846
AA Change: I818V

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: I818V

DomainStartEndE-ValueType
low complexity region 265 284 N/A INTRINSIC
low complexity region 293 299 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
low complexity region 649 675 N/A INTRINSIC
low complexity region 692 728 N/A INTRINSIC
low complexity region 785 799 N/A INTRINSIC
low complexity region 933 951 N/A INTRINSIC
low complexity region 963 977 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213199
AA Change: I818V

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214583
Predicted Effect probably benign
Transcript: ENSMUST00000215298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215426
Predicted Effect probably benign
Transcript: ENSMUST00000217657
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A C 5: 8,282,604 (GRCm39) probably null Het
Afap1 T A 5: 36,093,026 (GRCm39) probably null Het
Aunip G T 4: 134,250,722 (GRCm39) K222N possibly damaging Het
Ccnt1 A G 15: 98,442,122 (GRCm39) V382A probably benign Het
Clip1 T C 5: 123,721,612 (GRCm39) D1123G probably damaging Het
Cxcr1 T A 1: 74,231,759 (GRCm39) I88F possibly damaging Het
Duox2 A C 2: 122,112,389 (GRCm39) Y1266D probably damaging Het
Elk4 T A 1: 131,945,592 (GRCm39) S157T possibly damaging Het
Erc1 T C 6: 119,597,298 (GRCm39) T1004A possibly damaging Het
Fah T C 7: 84,238,837 (GRCm39) N336S probably benign Het
Glg1 A T 8: 111,919,332 (GRCm39) S253T possibly damaging Het
Gm10377 A T 14: 42,614,864 (GRCm39) I167K probably benign Het
Hipk1 A T 3: 103,668,875 (GRCm39) I507N probably damaging Het
Hnf1a T C 5: 115,091,732 (GRCm39) E357G probably damaging Het
Ighv1-22 A T 12: 114,710,298 (GRCm39) L10H probably damaging Het
Igkv6-23 A G 6: 70,237,574 (GRCm39) Y56H probably damaging Het
Lyrm9 A G 11: 78,728,955 (GRCm39) I56V probably damaging Het
Ncam1 G T 9: 49,419,907 (GRCm39) T804K probably damaging Het
Nfu1 T A 6: 86,992,605 (GRCm39) I73K probably damaging Het
Ruvbl2 A G 7: 45,071,587 (GRCm39) L432P probably damaging Het
Tcf3 T C 10: 80,249,043 (GRCm39) T527A probably benign Het
Tle1 T C 4: 72,055,385 (GRCm39) D432G probably damaging Het
Other mutations in 1700017B05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:1700017B05Rik APN 9 57,165,529 (GRCm39) missense probably damaging 1.00
IGL01287:1700017B05Rik APN 9 57,165,040 (GRCm39) missense probably damaging 1.00
IGL01933:1700017B05Rik APN 9 57,164,650 (GRCm39) missense possibly damaging 0.95
IGL02146:1700017B05Rik APN 9 57,164,023 (GRCm39) missense possibly damaging 0.82
IGL02158:1700017B05Rik APN 9 57,163,902 (GRCm39) splice site probably null
IGL02277:1700017B05Rik APN 9 57,165,708 (GRCm39) missense probably benign 0.05
IGL02707:1700017B05Rik APN 9 57,165,928 (GRCm39) missense probably benign
IGL02887:1700017B05Rik APN 9 57,166,168 (GRCm39) missense probably damaging 1.00
IGL02936:1700017B05Rik APN 9 57,165,687 (GRCm39) missense possibly damaging 0.69
R0583:1700017B05Rik UTSW 9 57,164,926 (GRCm39) missense probably benign 0.04
R0926:1700017B05Rik UTSW 9 57,164,832 (GRCm39) missense probably damaging 0.99
R1812:1700017B05Rik UTSW 9 57,164,740 (GRCm39) nonsense probably null
R1903:1700017B05Rik UTSW 9 57,165,635 (GRCm39) missense possibly damaging 0.69
R4542:1700017B05Rik UTSW 9 57,163,875 (GRCm39) missense probably damaging 1.00
R4596:1700017B05Rik UTSW 9 57,165,088 (GRCm39) missense probably benign 0.03
R4631:1700017B05Rik UTSW 9 57,165,270 (GRCm39) missense probably damaging 1.00
R4869:1700017B05Rik UTSW 9 57,161,488 (GRCm39) missense probably damaging 1.00
R5265:1700017B05Rik UTSW 9 57,166,177 (GRCm39) missense probably damaging 1.00
R5361:1700017B05Rik UTSW 9 57,164,468 (GRCm39) missense probably damaging 1.00
R6216:1700017B05Rik UTSW 9 57,164,910 (GRCm39) missense probably benign 0.33
R6356:1700017B05Rik UTSW 9 57,161,292 (GRCm39) missense probably benign 0.11
R6579:1700017B05Rik UTSW 9 57,161,507 (GRCm39) missense possibly damaging 0.89
R6774:1700017B05Rik UTSW 9 57,163,908 (GRCm39) missense probably damaging 1.00
R6921:1700017B05Rik UTSW 9 57,166,019 (GRCm39) missense probably damaging 1.00
R7089:1700017B05Rik UTSW 9 57,166,041 (GRCm39) missense probably damaging 1.00
R7196:1700017B05Rik UTSW 9 57,165,505 (GRCm39) frame shift probably null
R7197:1700017B05Rik UTSW 9 57,165,505 (GRCm39) frame shift probably null
R7728:1700017B05Rik UTSW 9 57,163,822 (GRCm39) missense probably damaging 1.00
R7770:1700017B05Rik UTSW 9 57,165,894 (GRCm39) missense probably damaging 0.99
R7812:1700017B05Rik UTSW 9 57,165,141 (GRCm39) missense probably damaging 0.99
R8141:1700017B05Rik UTSW 9 57,165,688 (GRCm39) missense probably benign
R8144:1700017B05Rik UTSW 9 57,166,388 (GRCm39) start gained probably benign
R8925:1700017B05Rik UTSW 9 57,165,805 (GRCm39) nonsense probably null
R8927:1700017B05Rik UTSW 9 57,165,805 (GRCm39) nonsense probably null
R9186:1700017B05Rik UTSW 9 57,164,472 (GRCm39) missense probably damaging 0.99
R9194:1700017B05Rik UTSW 9 57,166,371 (GRCm39) start codon destroyed probably null 1.00
R9299:1700017B05Rik UTSW 9 57,163,792 (GRCm39) missense possibly damaging 0.91
Posted On 2014-02-04