Incidental Mutation 'R0472:1700128F08Rik'
ID 46828
Institutional Source Beutler Lab
Gene Symbol 1700128F08Rik
Ensembl Gene ENSMUSG00000031998
Gene Name RIKEN cDNA 1700128F08 gene
Synonyms
MMRRC Submission 038672-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # R0472 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 8221890-8241988 bp(+) (GRCm39)
Type of Mutation exon
DNA Base Change (assembly) A to G at 8222123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000034483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213708
Meta Mutation Damage Score 0.5033 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 97% (65/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 T C 2: 34,975,218 (GRCm39) N337S probably benign Het
Aldh3b1 C T 19: 3,964,024 (GRCm39) R426H probably damaging Het
Arap2 A G 5: 62,864,002 (GRCm39) F541L probably damaging Het
Asap2 G T 12: 21,263,186 (GRCm39) R267L possibly damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bmp8b T A 4: 123,015,692 (GRCm39) D226E probably benign Het
C1ra T A 6: 124,494,403 (GRCm39) D283E possibly damaging Het
Cacul1 G T 19: 60,531,464 (GRCm39) H268Q probably damaging Het
Cd9 T C 6: 125,449,396 (GRCm39) N49D probably benign Het
Cdc42bpa A G 1: 179,867,744 (GRCm39) H193R probably damaging Het
Cep290 G A 10: 100,387,317 (GRCm39) G1935E probably benign Het
Cep350 A T 1: 155,790,469 (GRCm39) I1362N probably damaging Het
Chchd7 A T 4: 3,943,416 (GRCm39) N61I possibly damaging Het
Clca3a1 A T 3: 144,733,106 (GRCm39) L134Q probably damaging Het
Clec2j T C 6: 128,633,565 (GRCm39) noncoding transcript Het
Clvs1 G A 4: 9,281,801 (GRCm39) A82T probably damaging Het
Csn1s1 A T 5: 87,825,486 (GRCm39) Y231F possibly damaging Het
Cyp2c55 A T 19: 39,019,823 (GRCm39) T254S probably benign Het
Decr1 A G 4: 15,919,849 (GRCm39) S290P probably damaging Het
Dnai2 T A 11: 114,636,015 (GRCm39) probably benign Het
Dock4 C A 12: 40,888,437 (GRCm39) probably benign Het
Dst T C 1: 34,306,041 (GRCm39) probably null Het
Elmo2 A G 2: 165,140,250 (GRCm39) I315T probably damaging Het
Fcho2 A G 13: 98,884,775 (GRCm39) F431L probably benign Het
Fez2 A G 17: 78,692,261 (GRCm39) probably benign Het
Gas2l3 C T 10: 89,262,339 (GRCm39) A128T probably damaging Het
Hpse2 T C 19: 43,001,602 (GRCm39) I222M probably damaging Het
Katnip A G 7: 125,472,139 (GRCm39) N1548S probably damaging Het
Kcna2 A G 3: 107,012,832 (GRCm39) D471G probably benign Het
Kcnj13 T A 1: 87,314,568 (GRCm39) Y218F probably benign Het
Kif1a T C 1: 92,946,719 (GRCm39) H1763R probably damaging Het
Krt1c C T 15: 101,721,688 (GRCm39) R451H probably damaging Het
Lama2 A G 10: 26,866,863 (GRCm39) V2877A probably damaging Het
Lrrc2 A T 9: 110,791,685 (GRCm39) M80L probably benign Het
Naip6 A G 13: 100,438,768 (GRCm39) V343A probably benign Het
Nedd4l T C 18: 65,341,532 (GRCm39) Y753H probably damaging Het
Nif3l1 A C 1: 58,486,987 (GRCm39) S58R probably damaging Het
Or51h7 A T 7: 102,591,258 (GRCm39) C175* probably null Het
Or5w20 T A 2: 87,726,837 (GRCm39) V98E possibly damaging Het
Or9r3 G A 10: 129,948,449 (GRCm39) S70F probably damaging Het
Osbpl11 C A 16: 33,054,814 (GRCm39) Y632* probably null Het
Pask A T 1: 93,248,639 (GRCm39) D920E probably benign Het
Pclo T C 5: 14,731,608 (GRCm39) V3370A unknown Het
Ptpn21 G A 12: 98,670,499 (GRCm39) probably benign Het
Rph3al T C 11: 75,799,795 (GRCm39) I55V probably benign Het
Rsad2 T G 12: 26,504,167 (GRCm39) I121L possibly damaging Het
Sergef T G 7: 46,283,170 (GRCm39) probably benign Het
Sp110 C T 1: 85,516,841 (GRCm39) E219K possibly damaging Het
Tas2r104 T C 6: 131,662,434 (GRCm39) I92V probably benign Het
Tasor2 A G 13: 3,638,364 (GRCm39) S456P possibly damaging Het
Tbc1d23 T A 16: 56,993,469 (GRCm39) I566F possibly damaging Het
Tbc1d9b A G 11: 50,059,055 (GRCm39) probably null Het
Tie1 T A 4: 118,333,344 (GRCm39) I841L possibly damaging Het
Tpo A G 12: 30,150,485 (GRCm39) V465A probably benign Het
Ttll3 A T 6: 113,386,300 (GRCm39) Q711L probably damaging Het
Ttn C T 2: 76,783,385 (GRCm39) R869H probably benign Het
Uggt2 A G 14: 119,332,748 (GRCm39) V62A probably damaging Het
Usp34 T C 11: 23,334,509 (GRCm39) probably benign Het
Vmn1r17 C A 6: 57,338,304 (GRCm39) M20I probably benign Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r120 C T 17: 57,831,518 (GRCm39) V424I probably benign Het
Vps13b T C 15: 35,417,779 (GRCm39) probably null Het
Wdfy3 C A 5: 102,105,309 (GRCm39) A173S probably benign Het
Wdr59 T C 8: 112,213,629 (GRCm39) probably null Het
Ythdc2 A T 18: 44,997,424 (GRCm39) M994L probably benign Het
Zfp808 T A 13: 62,320,120 (GRCm39) F450I probably damaging Het
Other mutations in 1700128F08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1114:1700128F08Rik UTSW 9 8,222,179 (GRCm39) exon noncoding transcript
R4732:1700128F08Rik UTSW 9 8,222,174 (GRCm39) exon noncoding transcript
R4733:1700128F08Rik UTSW 9 8,222,174 (GRCm39) exon noncoding transcript
R4970:1700128F08Rik UTSW 9 8,222,066 (GRCm39) exon noncoding transcript
R5692:1700128F08Rik UTSW 9 8,221,991 (GRCm39) exon noncoding transcript
R5699:1700128F08Rik UTSW 9 8,225,320 (GRCm39) unclassified noncoding transcript
Predicted Primers PCR Primer
(F):5'- TGACTGGATGCCCATTGCCAAG -3'
(R):5'- TTCGGAAAAGCCAATCTCGCCC -3'

Sequencing Primer
(F):5'- TGCCCATTGCCAAGGAATATG -3'
(R):5'- GGAGAGTCCTATCTAGCTCATAGTC -3'
Posted On 2013-06-11