Incidental Mutation 'IGL02887:1700017B05Rik'
ID 363778
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 # IGL02887
Quality Score
Status
Chromosome 9
Chromosomal Location 57160400-57169895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57166168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 69 (Y69H)
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 damaging
Transcript: ENSMUST00000034846
AA Change: Y69H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: Y69H

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 damaging
Transcript: ENSMUST00000213199
AA Change: Y69H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214583
Predicted Effect probably benign
Transcript: ENSMUST00000215298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215426
Predicted Effect possibly damaging
Transcript: ENSMUST00000217657
AA Change: Y69H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 A T 19: 56,908,995 (GRCm39) S310R probably damaging Het
Aldh7a1 A G 18: 56,675,288 (GRCm39) probably benign Het
Anxa8 T A 14: 33,818,481 (GRCm39) probably null Het
Ap1ar T C 3: 127,602,192 (GRCm39) E282G probably damaging Het
Arl6ip6 T G 2: 53,092,939 (GRCm39) S155A probably benign Het
Armc9 T C 1: 86,092,557 (GRCm39) F107S probably damaging Het
Ash1l C A 3: 88,891,488 (GRCm39) D1122E probably benign Het
Atp2b4 T A 1: 133,656,512 (GRCm39) I713F probably damaging Het
BC005624 A C 2: 30,863,317 (GRCm39) probably benign Het
Calcrl T C 2: 84,169,586 (GRCm39) D365G probably benign Het
Ccdc110 A G 8: 46,396,221 (GRCm39) N704S probably benign Het
Ccr10 G T 11: 101,065,492 (GRCm39) L13I probably benign Het
Cfap52 A G 11: 67,844,341 (GRCm39) Y125H probably damaging Het
Cnr2 C A 4: 135,644,936 (GRCm39) T338K possibly damaging Het
Cntn2 T A 1: 132,444,308 (GRCm39) D935V probably damaging Het
Cog7 T C 7: 121,543,067 (GRCm39) K448R possibly damaging Het
Csnk1g2 G A 10: 80,474,369 (GRCm39) D197N probably damaging Het
Cyp2e1 T A 7: 140,343,824 (GRCm39) S21T probably damaging Het
Dcaf11 T C 14: 55,801,592 (GRCm39) F187L probably damaging Het
Dmd T A X: 82,922,110 (GRCm39) F1460Y probably benign Het
Dnah11 G A 12: 117,874,775 (GRCm39) A4030V probably damaging Het
Dnah7a A G 1: 53,561,519 (GRCm39) V2046A possibly damaging Het
Dnajc6 T C 4: 101,496,497 (GRCm39) I820T probably damaging Het
Dsel T C 1: 111,788,462 (GRCm39) D691G possibly damaging Het
Fbp1 T A 13: 63,016,894 (GRCm39) M203L probably benign Het
Fndc1 T C 17: 7,992,470 (GRCm39) T409A unknown Het
Golgb1 T G 16: 36,746,211 (GRCm39) L2930R probably damaging Het
Htr2a A G 14: 74,882,583 (GRCm39) T190A probably benign Het
Klra4 C T 6: 130,021,033 (GRCm39) C254Y probably damaging Het
Large1 A T 8: 73,858,667 (GRCm39) V67E probably benign Het
Lins1 T C 7: 66,363,931 (GRCm39) S609P probably damaging Het
Magi3 T C 3: 104,002,473 (GRCm39) E156G probably damaging Het
Mdh1b A G 1: 63,754,523 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,748,037 (GRCm39) D276G probably benign Het
Myh9 T A 15: 77,680,220 (GRCm39) K185* probably null Het
Myof T C 19: 37,909,227 (GRCm39) probably null Het
Naip2 T G 13: 100,298,020 (GRCm39) Y672S possibly damaging Het
Nbeal1 A G 1: 60,326,603 (GRCm39) probably benign Het
Nbeal2 T A 9: 110,457,344 (GRCm39) H2273L probably damaging Het
Neb T C 2: 52,090,733 (GRCm39) K1346E possibly damaging Het
Nfatc2 T C 2: 168,346,370 (GRCm39) D908G probably damaging Het
Nlgn2 T C 11: 69,718,080 (GRCm39) N375S probably benign Het
Nova1 G T 12: 46,767,505 (GRCm39) Q139K unknown Het
Opa3 A T 7: 18,962,507 (GRCm39) Q47L probably damaging Het
Or10g7 T A 9: 39,905,109 (GRCm39) M1K probably null Het
Or2t47 A G 11: 58,442,987 (GRCm39) L26P probably damaging Het
Or6c205 T A 10: 129,086,794 (GRCm39) Y130* probably null Het
Pacs1 A T 19: 5,185,138 (GRCm39) probably benign Het
Pappa2 T A 1: 158,609,829 (GRCm39) H1544L probably damaging Het
Pax8 A G 2: 24,334,627 (GRCm39) S48P probably damaging Het
Pdilt T C 7: 119,097,272 (GRCm39) N70S possibly damaging Het
Poldip3 T C 15: 83,013,469 (GRCm39) probably benign Het
Ppp6r1 T A 7: 4,645,211 (GRCm39) I80F probably damaging Het
Pycr2 T A 1: 180,732,304 (GRCm39) probably null Het
Rapgef2 C T 3: 78,976,187 (GRCm39) probably benign Het
Rbm44 T A 1: 91,080,902 (GRCm39) D363E probably damaging Het
Rnf213 A T 11: 119,318,336 (GRCm39) I1046F probably damaging Het
Ryr2 A G 13: 11,606,155 (GRCm39) S4476P probably damaging Het
Scara5 G A 14: 66,000,278 (GRCm39) D483N unknown Het
Scmh1 T A 4: 120,325,586 (GRCm39) F101Y probably damaging Het
Sgo2a T A 1: 58,055,511 (GRCm39) V565E probably damaging Het
Simc1 T C 13: 54,673,071 (GRCm39) M473T probably benign Het
Skint6 T A 4: 113,095,381 (GRCm39) R93* probably null Het
Skint7 T C 4: 111,839,375 (GRCm39) V223A possibly damaging Het
Slc25a2 T C 18: 37,770,939 (GRCm39) I197V probably benign Het
Slit2 A G 5: 48,374,816 (GRCm39) T361A probably benign Het
Sugp1 G A 8: 70,522,776 (GRCm39) G492D probably damaging Het
Svep1 C T 4: 58,145,301 (GRCm39) G388D probably damaging Het
Tbpl2 G T 2: 23,983,888 (GRCm39) A183E probably damaging Het
Tcerg1l G T 7: 137,831,619 (GRCm39) P453T probably damaging Het
Tdpoz2 T C 3: 93,559,046 (GRCm39) T309A probably benign Het
Thbs4 T A 13: 92,927,306 (GRCm39) Y61F probably benign Het
Tmem117 C A 15: 94,992,656 (GRCm39) P439T probably damaging Het
Tmem151a A G 19: 5,132,993 (GRCm39) V71A probably benign Het
Tmem268 G T 4: 63,486,691 (GRCm39) probably benign Het
Tmem43 T A 6: 91,454,356 (GRCm39) Y48N possibly damaging Het
Tmigd1 T C 11: 76,804,812 (GRCm39) V217A probably benign Het
Tmprss11g A T 5: 86,645,188 (GRCm39) probably benign Het
Tsn T C 1: 118,237,551 (GRCm39) I38V probably benign Het
Ttc41 A T 10: 86,569,518 (GRCm39) Y632F probably damaging Het
Vmn2r117 C T 17: 23,694,552 (GRCm39) probably benign Het
Vmn2r12 A T 5: 109,238,351 (GRCm39) I463N probably benign Het
Wdsub1 T A 2: 59,683,176 (GRCm39) N466I probably damaging Het
Zdhhc21 A T 4: 82,762,427 (GRCm39) I56N probably benign Het
Zfand4 A G 6: 116,250,617 (GRCm39) T16A possibly damaging Het
Zmym4 T C 4: 126,842,268 (GRCm39) E15G 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
IGL01798:1700017B05Rik APN 9 57,163,921 (GRCm39) missense probably benign 0.10
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
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 2015-12-18