Incidental Mutation 'R4467:0610040J01Rik'
ID 329229
Institutional Source Beutler Lab
Gene Symbol 0610040J01Rik
Ensembl Gene ENSMUSG00000060512
Gene Name RIKEN cDNA 0610040J01 gene
Synonyms
MMRRC Submission 041724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4467 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 63969833-64056968 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 64056182 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 unknown
Transcript: ENSMUST00000081747
AA Change: G306V
SMART Domains Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: G306V

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
Meta Mutation Damage Score 0.1690 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg4a-ps A G 3: 103,553,171 (GRCm39) Y57H probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bms1 G A 6: 118,360,808 (GRCm39) T1220I probably damaging Het
Brat1 T C 5: 140,690,826 (GRCm39) probably benign Het
Cds2 T A 2: 132,136,366 (GRCm39) Y39* probably null Het
Chrnd T A 1: 87,125,099 (GRCm39) L384Q probably damaging Het
Cpa3 A T 3: 20,282,981 (GRCm39) Y155* probably null Het
Crlf1 G A 8: 70,953,606 (GRCm39) W260* probably null Het
Cux1 C G 5: 136,341,576 (GRCm39) E605D probably damaging Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dmtf1 T C 5: 9,186,085 (GRCm39) N167S probably damaging Het
Dnaaf9 A G 2: 130,609,567 (GRCm39) I372T probably damaging Het
Dnai7 A T 6: 145,128,944 (GRCm39) probably null Het
Dtx2 T A 5: 136,040,930 (GRCm39) W112R probably damaging Het
Elf3 A G 1: 135,184,582 (GRCm39) I138T probably damaging Het
F11 T A 8: 45,694,511 (GRCm39) I617F probably damaging Het
Fdps A T 3: 89,008,093 (GRCm39) D8E possibly damaging Het
Fzd10 C A 5: 128,678,340 (GRCm39) T20K probably benign Het
Gm9978 T A 10: 78,322,750 (GRCm39) noncoding transcript Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Has1 C T 17: 18,064,257 (GRCm39) V461M probably benign Het
Hdac3 C T 18: 38,085,566 (GRCm39) G80D probably benign Het
Klk12 A T 7: 43,422,807 (GRCm39) R245W probably damaging Het
Lamp5 A G 2: 135,900,940 (GRCm39) I47V probably damaging Het
Or6c1b T C 10: 129,272,933 (GRCm39) I84T probably benign Het
Ovgp1 A G 3: 105,885,027 (GRCm39) D122G probably benign Het
Piezo1 T C 8: 123,213,135 (GRCm39) E1875G probably benign Het
Pih1d1 A G 7: 44,807,921 (GRCm39) M132V possibly damaging Het
Pon2 C T 6: 5,267,021 (GRCm39) A241T probably benign Het
Prkce A G 17: 86,927,339 (GRCm39) I538V possibly damaging Het
Rab36 C T 10: 74,887,875 (GRCm39) R249* probably null Het
Rps6kl1 C T 12: 85,194,582 (GRCm39) A110T probably damaging Het
Rsad1 T C 11: 94,435,356 (GRCm39) T244A probably benign Het
Slc22a7 T C 17: 46,743,436 (GRCm39) I532V probably benign Het
Slc2a7 T C 4: 150,247,731 (GRCm39) V377A possibly damaging Het
Slx4 A G 16: 3,806,919 (GRCm39) V508A possibly damaging Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Het
Stat6 T G 10: 127,487,097 (GRCm39) I201M probably damaging Het
Stim2 T C 5: 54,273,536 (GRCm39) probably null Het
Tbc1d9 A G 8: 83,937,107 (GRCm39) Y63C probably damaging Het
Tctn2 T C 5: 124,758,252 (GRCm39) noncoding transcript Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ubr5 T A 15: 38,004,580 (GRCm39) T1282S probably damaging Het
Ufl1 A T 4: 25,254,806 (GRCm39) I550N probably damaging Het
Uty A G Y: 1,158,372 (GRCm39) V557A possibly damaging Het
Vmn1r54 T C 6: 90,246,253 (GRCm39) S56P probably damaging Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S 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
R3161:0610040J01Rik UTSW 5 64,053,833 (GRCm39) splice site probably benign
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
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'- AGAAGCTGGGACTCACTGAATG -3'
(R):5'- GATGCCCTATACAGCAAGCAGC -3'

Sequencing Primer
(F):5'- TCACTGAATGAGGCAGGGACC -3'
(R):5'- GAGTAGGCACATGCTTCTA -3'
Posted On 2015-07-21