Incidental Mutation 'R4491:0610040J01Rik'
ID 330721
Institutional Source Beutler Lab
Gene Symbol 0610040J01Rik
Ensembl Gene ENSMUSG00000060512
Gene Name RIKEN cDNA 0610040J01 gene
Synonyms
MMRRC Submission 041747-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4491 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 63969833-64056968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 64055812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 183 (P183T)
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 damaging
Transcript: ENSMUST00000081747
AA Change: P183T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: P183T

DomainStartEndE-ValueType
Pfam:DUF4699 9 313 2.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196367
Predicted Effect probably damaging
Transcript: ENSMUST00000196575
AA Change: P183T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000199667
AA Change: P183T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4672 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcan G A 3: 87,897,540 (GRCm39) R682* probably null Het
Bzw1 T A 1: 58,443,418 (GRCm39) L410Q probably damaging Het
Cdh5 A T 8: 104,839,672 (GRCm39) I48F probably damaging Het
Cdhr5 T C 7: 140,853,970 (GRCm39) N173D possibly damaging Het
Cfap74 T C 4: 155,513,628 (GRCm39) M480T probably benign Het
Col6a5 C T 9: 105,817,211 (GRCm39) A367T unknown Het
Cpsf1 A C 15: 76,481,922 (GRCm39) Y1064D possibly damaging Het
Defb6 A T 8: 19,278,090 (GRCm39) H54L probably benign Het
Dmtf1 A G 5: 9,190,379 (GRCm39) probably benign Het
Dnah12 T C 14: 26,455,758 (GRCm39) L827S possibly damaging Het
Dnai4 T C 4: 102,923,596 (GRCm39) E411G probably benign Het
Dsc3 T C 18: 20,134,922 (GRCm39) T21A probably benign Het
Epb41l1 G T 2: 156,364,088 (GRCm39) D866Y probably benign Het
Epha1 T C 6: 42,337,600 (GRCm39) M860V probably damaging Het
Far2 T C 6: 148,074,907 (GRCm39) L380P possibly damaging Het
Fgd5 A G 6: 91,966,280 (GRCm39) I680V possibly damaging Het
Fnbp4 T C 2: 90,583,312 (GRCm39) probably null Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gm14180 T A 11: 99,621,139 (GRCm39) probably benign Het
Hbb-bh2 T C 7: 103,489,622 (GRCm39) T5A probably benign Het
Ighv7-2 A G 12: 113,876,100 (GRCm39) F2L probably benign Het
Igsf5 A G 16: 96,165,281 (GRCm39) T19A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klb A G 5: 65,533,137 (GRCm39) N482S probably benign Het
Lipo2 A C 19: 33,699,100 (GRCm39) L310R probably damaging Het
Mc3r A G 2: 172,091,123 (GRCm39) H115R possibly damaging Het
Meioc A G 11: 102,565,746 (GRCm39) D398G possibly damaging Het
Or10ag60 G A 2: 87,437,736 (GRCm39) M1I probably null Het
Or56a5 A T 7: 104,792,983 (GRCm39) C172* probably null Het
Or7a37 T C 10: 78,806,151 (GRCm39) S223P probably damaging Het
Pds5a T C 5: 65,792,780 (GRCm39) T718A probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pla2g2c T C 4: 138,461,719 (GRCm39) probably null Het
Plch1 T C 3: 63,648,160 (GRCm39) I404V probably damaging Het
Pou2af3 A G 9: 51,181,955 (GRCm39) F206L probably benign Het
Ppp2r5c A T 12: 110,546,956 (GRCm39) D522V possibly damaging Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Rapgef1 C T 2: 29,609,668 (GRCm39) P702S possibly damaging Het
Rasal3 T A 17: 32,610,359 (GRCm39) D976V probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rptn A T 3: 93,303,818 (GRCm39) R384* probably null Het
Sema6a G A 18: 47,439,524 (GRCm39) probably benign Het
Sycp2 G T 2: 178,016,778 (GRCm39) T608K probably damaging Het
Syde1 C T 10: 78,426,062 (GRCm39) R35H probably benign Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Taf15 A T 11: 83,375,520 (GRCm39) T31S probably benign Het
Tktl2 T C 8: 66,964,664 (GRCm39) V74A probably damaging Het
Tle4 A G 19: 14,432,229 (GRCm39) V489A probably damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Trmt9b G A 8: 36,972,760 (GRCm39) C70Y probably damaging Het
Vmn1r75 C A 7: 11,614,909 (GRCm39) Q214K probably damaging Het
Vps13c C T 9: 67,817,475 (GRCm39) T1049M probably benign Het
Zfp37 T C 4: 62,110,365 (GRCm39) Q274R probably benign Het
Zfp648 T G 1: 154,080,873 (GRCm39) L344R probably damaging 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
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'- GTAGCCACCATAGACAGTGCTC -3'
(R):5'- AGTGGGACCCTCCTCTTTGAAG -3'

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