Incidental Mutation 'R0034:9430038I01Rik'
ID 64588
Institutional Source Beutler Lab
Gene Symbol 9430038I01Rik
Ensembl Gene ENSMUSG00000040139
Gene Name RIKEN cDNA 9430038I01 gene
Synonyms
MMRRC Submission 038328-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0034 (G1)
Quality Score 113
Status Validated
Chromosome 7
Chromosomal Location 136977303-137012491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136989321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 60 (R60Q)
Ref Sequence ENSEMBL: ENSMUSP00000112892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068996] [ENSMUST00000117404] [ENSMUST00000120340]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068996
AA Change: R60Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000117404
AA Change: R60Q

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000120340
AA Change: R60Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145881
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 C T 2: 151,771,311 (GRCm39) T209I probably benign Het
Ap3b1 T C 13: 94,616,393 (GRCm39) probably benign Het
Aplp1 A C 7: 30,143,867 (GRCm39) V56G probably damaging Het
Asns G A 6: 7,676,299 (GRCm39) P419L probably damaging Het
Atxn7 A T 14: 14,100,846 (GRCm38) H844L probably damaging Het
Cd14 A G 18: 36,859,288 (GRCm39) Y56H probably benign Het
Cd300lb C T 11: 114,819,225 (GRCm39) V135I probably damaging Het
Cep152 C T 2: 125,425,813 (GRCm39) A851T probably benign Het
Cfap74 C T 4: 155,545,344 (GRCm39) probably benign Het
Col28a1 T A 6: 8,175,708 (GRCm39) I47L probably benign Het
Dnaaf9 T C 2: 130,578,492 (GRCm39) H664R probably damaging Het
Eef1d T C 15: 75,774,808 (GRCm39) T200A probably benign Het
Exoc1l A G 5: 76,664,377 (GRCm39) I155M probably damaging Het
Faap100 A T 11: 120,262,973 (GRCm39) M795K probably benign Het
Gabpb1 C T 2: 126,500,454 (GRCm39) R15Q possibly damaging Het
Gata4 C A 14: 63,438,933 (GRCm39) M381I probably benign Het
Gm5114 A G 7: 39,058,282 (GRCm39) S446P possibly damaging Het
Gnb1 T A 4: 155,636,146 (GRCm39) N155K probably benign Het
Haspin G A 11: 73,029,044 (GRCm39) T15M probably damaging Het
Heatr5a A G 12: 51,971,955 (GRCm39) L745P probably damaging Het
Kcng3 T A 17: 83,895,812 (GRCm39) probably benign Het
Kif15 A T 9: 122,828,350 (GRCm39) N887I possibly damaging Het
Kif26a T C 12: 112,135,397 (GRCm39) probably benign Het
Kif9 G A 9: 110,348,679 (GRCm39) C738Y probably benign Het
Kifc2 G T 15: 76,551,300 (GRCm39) C613F probably benign Het
Klf12 A G 14: 100,224,865 (GRCm39) probably null Het
Lrp1 A T 10: 127,381,520 (GRCm39) I3826N probably benign Het
Map2k4 A G 11: 65,610,437 (GRCm39) probably benign Het
Myo7b A G 18: 32,093,913 (GRCm39) S2006P probably damaging Het
Or51m1 T C 7: 103,578,708 (GRCm39) V226A probably benign Het
Pax4 T C 6: 28,442,448 (GRCm39) T285A probably benign Het
Pcdhb5 A G 18: 37,455,137 (GRCm39) N506D probably damaging Het
Pkhd1l1 G A 15: 44,367,405 (GRCm39) G768S probably benign Het
Plb1 G T 5: 32,430,457 (GRCm39) G138V probably benign Het
Poln A C 5: 34,272,762 (GRCm39) V398G possibly damaging Het
Poteg A G 8: 27,952,105 (GRCm39) probably benign Het
Rapgef1 C A 2: 29,614,780 (GRCm39) probably benign Het
Rbm43 A T 2: 51,815,722 (GRCm39) D166E probably benign Het
Rhobtb2 T C 14: 70,026,137 (GRCm39) T602A probably benign Het
Samd3 G A 10: 26,147,398 (GRCm39) probably benign Het
Sbno2 A C 10: 79,894,174 (GRCm39) probably benign Het
Sec1 A G 7: 45,328,759 (GRCm39) V96A probably benign Het
Senp7 A C 16: 55,973,933 (GRCm39) S385R possibly damaging Het
Sgk3 T C 1: 9,955,902 (GRCm39) V301A probably damaging Het
Sgpl1 A T 10: 60,938,392 (GRCm39) M467K probably damaging Het
Slc22a26 A G 19: 7,779,618 (GRCm39) I66T probably benign Het
Stra6 G A 9: 58,058,752 (GRCm39) probably null Het
Tfrc T A 16: 32,434,214 (GRCm39) probably null Het
Tmem30b T C 12: 73,592,779 (GRCm39) Y112C probably damaging Het
Trap1 A T 16: 3,886,894 (GRCm39) probably benign Het
Trpc1 A G 9: 95,631,814 (GRCm39) S43P probably damaging Het
Tsku T C 7: 98,001,870 (GRCm39) T154A possibly damaging Het
Uroc1 T C 6: 90,322,292 (GRCm39) V272A probably damaging Het
Vmn1r69 T A 7: 10,314,738 (GRCm39) probably benign Het
Vmn2r1 T A 3: 63,997,435 (GRCm39) W364R probably damaging Het
Wnk2 G T 13: 49,221,556 (GRCm39) T377K possibly damaging Het
Zfta C A 19: 7,397,724 (GRCm39) H90Q probably damaging Het
Zscan20 T C 4: 128,479,455 (GRCm39) N1012S probably damaging Het
Other mutations in 9430038I01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4382001:9430038I01Rik UTSW 7 136,978,711 (GRCm39) missense unknown
R0227:9430038I01Rik UTSW 7 136,989,438 (GRCm39) splice site probably benign
R0602:9430038I01Rik UTSW 7 136,978,090 (GRCm39) splice site probably benign
R1843:9430038I01Rik UTSW 7 136,978,795 (GRCm39) intron probably benign
R3849:9430038I01Rik UTSW 7 136,978,069 (GRCm39) missense possibly damaging 0.82
R5975:9430038I01Rik UTSW 7 136,989,021 (GRCm39) utr 3 prime probably benign
R6894:9430038I01Rik UTSW 7 136,989,117 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- AGTGAGGCCACACTTACAGACTCC -3'
(R):5'- TGCAGCTCGATGCTAAGCAAGATG -3'

Sequencing Primer
(F):5'- GATACACCTCAGGCAAGGCTG -3'
(R):5'- TCTATCAAGGCAGGTAACTACAG -3'
Posted On 2013-08-06