Incidental Mutation 'R8070:0610040J01Rik'
ID 620217
Institutional Source Beutler Lab
Gene Symbol 0610040J01Rik
Ensembl Gene ENSMUSG00000060512
Gene Name RIKEN cDNA 0610040J01 gene
Synonyms
MMRRC Submission 067505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R8070 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 63969833-64056968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64055510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 82 (E82G)
Ref Sequence ENSEMBL: ENSMUSP00000080443 (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
AA Change: E82G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: E82G

DomainStartEndE-ValueType
Pfam:DUF4699 9 313 2.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196367
AA Change: E82G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000196575
AA Change: E82G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000199667
AA Change: E82G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A G 17: 48,452,681 (GRCm39) F86S probably damaging Het
Aamdc A T 7: 97,224,855 (GRCm39) Y2* probably null Het
Acta1 T A 8: 124,620,360 (GRCm39) D26V possibly damaging Het
Adra1d A C 2: 131,403,502 (GRCm39) L196R probably damaging Het
Agbl2 G A 2: 90,621,909 (GRCm39) C132Y probably benign Het
Amd1 A G 10: 40,170,226 (GRCm39) V92A probably benign Het
Arid4b T A 13: 14,310,844 (GRCm39) I149K probably benign Het
Atg7 A G 6: 114,674,041 (GRCm39) M312V probably benign Het
Bap1 T A 14: 30,978,643 (GRCm39) V381E probably damaging Het
Cbfa2t3 C T 8: 123,369,720 (GRCm39) V207I possibly damaging Het
Cdh24 T C 14: 54,870,030 (GRCm39) Q629R probably benign Het
Cdhr2 G T 13: 54,867,606 (GRCm39) V479L probably benign Het
Chd2 A G 7: 73,101,506 (GRCm39) S1407P probably benign Het
Clstn2 A G 9: 97,681,523 (GRCm39) V39A possibly damaging Het
Cwh43 T A 5: 73,578,806 (GRCm39) M357K possibly damaging Het
Dcdc2a T A 13: 25,386,180 (GRCm39) D351E probably benign Het
Dennd6b T C 15: 89,069,576 (GRCm39) I517V probably benign Het
Dnah17 T C 11: 117,915,497 (GRCm39) E4374G probably damaging Het
Emsy A G 7: 98,275,922 (GRCm39) S336P possibly damaging Het
Enoph1 A T 5: 100,208,841 (GRCm39) E65D probably benign Het
Fam83f T A 15: 80,556,281 (GRCm39) L55Q probably damaging Het
Fry T C 5: 150,401,472 (GRCm39) F379L Het
Fscb A T 12: 64,521,382 (GRCm39) M28K probably benign Het
Gas7 G A 11: 67,574,260 (GRCm39) V412M probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gcn1 T A 5: 115,727,057 (GRCm39) V638E probably benign Het
Ggt1 A T 10: 75,414,733 (GRCm39) I184F probably damaging Het
Gigyf2 A G 1: 87,368,629 (GRCm39) N1103S probably benign Het
Gm5592 G A 7: 40,935,887 (GRCm39) A130T possibly damaging Het
Gys2 T C 6: 142,394,230 (GRCm39) probably null Het
Hmcn1 C A 1: 150,525,743 (GRCm39) E3327* probably null Het
Ighv1-36 C T 12: 114,843,656 (GRCm39) G68E probably damaging Het
Igkv6-32 G A 6: 70,051,089 (GRCm39) T89M probably damaging Het
Ipo7 A G 7: 109,652,014 (GRCm39) D931G probably benign Het
Jakmip1 A G 5: 37,330,631 (GRCm39) E437G probably benign Het
Lingo3 C T 10: 80,671,955 (GRCm39) probably benign Het
Lnpep A G 17: 17,758,900 (GRCm39) S815P probably damaging Het
Ly6a T C 15: 74,869,449 (GRCm39) D2G probably damaging Het
Madd C A 2: 90,988,359 (GRCm39) E1223* probably null Het
Mapk8ip3 A T 17: 25,120,078 (GRCm39) probably null Het
Mecom T C 3: 30,033,987 (GRCm39) E239G probably damaging Het
Mug1 T C 6: 121,852,838 (GRCm39) V889A probably benign Het
Myo18b T A 5: 112,938,986 (GRCm39) N1675I probably benign Het
Ndrg4 T C 8: 96,426,756 (GRCm39) F50L possibly damaging Het
Ndst4 A G 3: 125,508,293 (GRCm39) Y286C probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Olfm3 A G 3: 114,895,604 (GRCm39) D195G probably damaging Het
Or2y14 A T 11: 49,404,941 (GRCm39) T159S probably damaging Het
Or4p21 G T 2: 88,277,003 (GRCm39) T93K probably benign Het
Pds5a A G 5: 65,809,741 (GRCm39) L407P possibly damaging Het
Pgm2 A G 5: 64,269,425 (GRCm39) N504S probably benign Het
Plce1 A G 19: 38,690,283 (GRCm39) M656V probably damaging Het
Pou6f2 T C 13: 18,414,209 (GRCm39) T189A unknown Het
Ppp1r12b T C 1: 134,803,807 (GRCm39) S451G probably benign Het
Prox1 T G 1: 189,893,107 (GRCm39) N446T probably damaging Het
Ralgapa2 T A 2: 146,195,199 (GRCm39) R1195S probably damaging Het
Rere A G 4: 150,701,832 (GRCm39) D37G probably damaging Het
Tfip11 T A 5: 112,482,796 (GRCm39) M560K possibly damaging Het
Thop1 T C 10: 80,915,320 (GRCm39) V260A probably damaging Het
Tle6 A G 10: 81,434,476 (GRCm39) M41T possibly damaging Het
Trav13d-4 T C 14: 53,995,249 (GRCm39) S68P possibly damaging Het
Trim24 A G 6: 37,934,661 (GRCm39) N826S probably damaging Het
Tuba3a T C 6: 125,255,433 (GRCm39) E414G probably damaging Het
Vmn2r78 A G 7: 86,571,695 (GRCm39) I502V probably benign Het
Vmn2r79 A T 7: 86,651,336 (GRCm39) Y245F 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
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
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'- TGATCCAGTTCAAGTGCCCTC -3'
(R):5'- GGCAGCTTTGCTTCCTGTAGTC -3'

Sequencing Primer
(F):5'- CGCCTGGTTTTGTCAATGAAGTAAAC -3'
(R):5'- CCTGTAGTCTTCTCCTTCAAGG -3'
Posted On 2020-01-23