Incidental Mutation 'R3161:0610040J01Rik'
ID 258157
Institutional Source Beutler Lab
Gene Symbol 0610040J01Rik
Ensembl Gene ENSMUSG00000060512
Gene Name RIKEN cDNA 0610040J01 gene
Synonyms
MMRRC Submission 040612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R3161 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 63969833-64056968 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 64053833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081747] [ENSMUST00000196367] [ENSMUST00000196575] [ENSMUST00000199667]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081747
SMART Domains Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512

DomainStartEndE-ValueType
Pfam:DUF4699 9 313 2.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196367
Predicted Effect probably benign
Transcript: ENSMUST00000196575
Predicted Effect probably benign
Transcript: ENSMUST00000199667
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,422,234 (GRCm39) N203K probably benign Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Adgrl2 G A 3: 148,523,187 (GRCm39) L1354F probably damaging Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Aox1 G T 1: 58,343,597 (GRCm39) V427L possibly damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
Bptf A T 11: 106,965,302 (GRCm39) D1182E probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Chct1 A G 11: 85,064,110 (GRCm39) S84G probably damaging Het
Ciz1 A G 2: 32,260,075 (GRCm39) D207G probably benign Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crabp2 A T 3: 87,859,484 (GRCm39) K45* probably null Het
Daam1 C A 12: 71,993,872 (GRCm39) T425K unknown Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dlg4 G C 11: 69,908,051 (GRCm39) R4T probably damaging Het
Fbf1 A G 11: 116,039,046 (GRCm39) I743T probably damaging Het
Fen1 A G 19: 10,177,655 (GRCm39) L263P probably damaging Het
G6pc2 A G 2: 69,050,456 (GRCm39) N27S probably damaging Het
Garnl3 A T 2: 32,924,723 (GRCm39) N246K probably damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Gpr152 A G 19: 4,192,713 (GRCm39) T85A probably benign Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Ighv1-81 C G 12: 115,883,949 (GRCm39) E101Q probably benign Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Myo9a C T 9: 59,739,598 (GRCm39) probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or5an1c T C 19: 12,218,860 (GRCm39) H55R probably benign Het
Or6d13 C T 6: 116,517,807 (GRCm39) A131V probably damaging Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Phyh T A 2: 4,942,482 (GRCm39) probably benign Het
Pkp4 G T 2: 59,138,449 (GRCm39) R233M probably damaging Het
Plcb1 A T 2: 135,177,402 (GRCm39) Q578L probably benign Het
Ppil3 A T 1: 58,473,573 (GRCm39) N92K probably benign Het
Prokr1 C T 6: 87,565,413 (GRCm39) R144H probably damaging Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Sult2a4 T C 7: 13,723,396 (GRCm39) T40A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Ttn A G 2: 76,663,581 (GRCm39) probably benign Het
Vmn2r115 T A 17: 23,575,998 (GRCm39) M532K possibly damaging Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wipf1 C T 2: 73,265,293 (GRCm39) E437K probably damaging Het
Wls G T 3: 159,603,073 (GRCm39) C162F probably damaging Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zfp868 A G 8: 70,064,736 (GRCm39) S200P probably benign Het
Other mutations in 0610040J01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:0610040J01Rik APN 5 64,055,726 (GRCm39) missense possibly damaging 0.79
IGL02229:0610040J01Rik APN 5 64,055,696 (GRCm39) missense probably damaging 0.99
IGL02389:0610040J01Rik APN 5 64,053,826 (GRCm39) missense probably null 1.00
IGL02411:0610040J01Rik APN 5 64,055,459 (GRCm39) missense probably benign 0.31
R0243:0610040J01Rik UTSW 5 64,055,806 (GRCm39) missense probably benign 0.10
R0411:0610040J01Rik UTSW 5 64,053,834 (GRCm39) splice site probably benign
R1978:0610040J01Rik UTSW 5 64,055,880 (GRCm39) nonsense probably null
R2072:0610040J01Rik UTSW 5 64,056,080 (GRCm39) missense possibly damaging 0.83
R2202:0610040J01Rik UTSW 5 64,056,011 (GRCm39) missense possibly damaging 0.91
R3162:0610040J01Rik UTSW 5 64,053,833 (GRCm39) splice site probably benign
R4428:0610040J01Rik UTSW 5 64,056,182 (GRCm39) unclassified probably benign
R4429:0610040J01Rik UTSW 5 64,056,182 (GRCm39) unclassified probably benign
R4430:0610040J01Rik UTSW 5 64,056,182 (GRCm39) unclassified probably benign
R4431:0610040J01Rik UTSW 5 64,056,182 (GRCm39) unclassified probably benign
R4464:0610040J01Rik UTSW 5 64,056,182 (GRCm39) unclassified probably benign
R4465:0610040J01Rik UTSW 5 64,056,182 (GRCm39) unclassified probably benign
R4467:0610040J01Rik UTSW 5 64,056,182 (GRCm39) unclassified probably benign
R4491:0610040J01Rik UTSW 5 64,055,812 (GRCm39) missense probably damaging 1.00
R5161:0610040J01Rik UTSW 5 64,055,344 (GRCm39) nonsense probably null
R6115:0610040J01Rik UTSW 5 64,055,317 (GRCm39) missense probably damaging 1.00
R6273:0610040J01Rik UTSW 5 64,055,561 (GRCm39) missense probably damaging 1.00
R7445:0610040J01Rik UTSW 5 64,055,962 (GRCm39) missense probably damaging 0.99
R7593:0610040J01Rik UTSW 5 64,055,774 (GRCm39) missense probably damaging 0.97
R8070:0610040J01Rik UTSW 5 64,055,510 (GRCm39) missense probably benign 0.01
R8140:0610040J01Rik UTSW 5 64,055,954 (GRCm39) missense possibly damaging 0.83
R8165:0610040J01Rik UTSW 5 64,055,289 (GRCm39) splice site probably null
R8557:0610040J01Rik UTSW 5 64,055,954 (GRCm39) missense probably benign 0.04
R9671:0610040J01Rik UTSW 5 64,055,948 (GRCm39) nonsense probably null
R9782:0610040J01Rik UTSW 5 64,053,796 (GRCm39) start codon destroyed probably null 1.00
Predicted Primers PCR Primer
(F):5'- TGTGTGGCTTAAAGACATGAGG -3'
(R):5'- CATATGCAATAGTGTCAAGGTTTGG -3'

Sequencing Primer
(F):5'- CTTAAAGACATGAGGGGGTTCTGTC -3'
(R):5'- GGCTGATTATGGGATGGATCC -3'
Posted On 2015-01-23