Incidental Mutation 'R4464:0610040J01Rik'
ID 330267
Institutional Source Beutler Lab
Gene Symbol 0610040J01Rik
Ensembl Gene ENSMUSG00000060512
Gene Name RIKEN cDNA 0610040J01 gene
Synonyms
MMRRC Submission 041722-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4464 (G1)
Quality Score 186
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: 94.8%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,249,612 (GRCm39) V1111A probably benign Het
Acot10 G A 15: 20,665,830 (GRCm39) R304* probably null Het
Aldh8a1 C A 10: 21,264,840 (GRCm39) probably benign Het
Alms1 A G 6: 85,597,003 (GRCm39) T1079A possibly damaging Het
Armc3 T C 2: 19,253,470 (GRCm39) Y204H probably damaging Het
Asnsd1 C A 1: 53,391,686 (GRCm39) probably null Het
Atad5 T A 11: 79,991,137 (GRCm39) probably null Het
Cst12 G A 2: 148,631,437 (GRCm39) V53I possibly damaging Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dennd1a A T 2: 38,133,402 (GRCm39) probably benign Het
Gm7535 C A 17: 18,131,924 (GRCm39) probably benign Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Ifngr1 G A 10: 19,473,265 (GRCm39) V72I possibly damaging Het
Kifap3 C A 1: 163,645,464 (GRCm39) Q269K probably benign Het
Krt86 G A 15: 101,371,795 (GRCm39) D122N probably damaging Het
Lrrcc1 A G 3: 14,622,378 (GRCm39) K694E probably damaging Het
Mbd4 A G 6: 115,826,463 (GRCm39) L155S probably damaging Het
Nalcn T C 14: 123,560,762 (GRCm39) N772D probably benign Het
Or12d17 C T 17: 37,777,742 (GRCm39) S215F probably damaging Het
Prxl2a T A 14: 40,719,832 (GRCm39) K127N probably damaging Het
Psg29 A T 7: 16,944,575 (GRCm39) N362Y possibly damaging Het
Ptpn23 G A 9: 110,215,881 (GRCm39) T1325I probably damaging Het
Rad51ap1 T C 6: 126,911,731 (GRCm39) N52S possibly damaging Het
Rb1 C A 14: 73,436,638 (GRCm39) probably null Het
Slc34a2 T C 5: 53,226,524 (GRCm39) L490P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
St3gal2 A G 8: 111,694,134 (GRCm39) N207D probably benign Het
Stat1 T G 1: 52,176,575 (GRCm39) D257E possibly damaging Het
Tkt A G 14: 30,290,231 (GRCm39) T165A possibly damaging Het
Trim66 A T 7: 109,076,897 (GRCm39) S347R possibly damaging Het
Zfp429 T C 13: 67,538,617 (GRCm39) I276V 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
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'- AAGCTGGGACTCACTGAATG -3'
(R):5'- TGCCCTATACAGCAAGCAGC -3'

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