Incidental Mutation 'R7711:9430015G10Rik'
ID 594603
Institutional Source Beutler Lab
Gene Symbol 9430015G10Rik
Ensembl Gene ENSMUSG00000059939
Gene Name RIKEN cDNA 9430015G10 gene
Synonyms
MMRRC Submission 045769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R7711 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 156194455-156211720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 156203649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 34 (V34G)
Ref Sequence ENSEMBL: ENSMUSP00000072366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072554] [ENSMUST00000105576] [ENSMUST00000169550]
AlphaFold A2ASP7
Predicted Effect probably damaging
Transcript: ENSMUST00000072554
AA Change: V34G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072366
Gene: ENSMUSG00000059939
AA Change: V34G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:DUF4501 23 199 1.5e-94 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105576
AA Change: V34G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101201
Gene: ENSMUSG00000059939
AA Change: V34G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:DUF4501 20 51 4e-12 PFAM
Pfam:DUF4501 49 167 7.7e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169550
AA Change: V34G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131817
Gene: ENSMUSG00000059939
AA Change: V34G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:DUF4501 20 199 1e-109 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant null mice show a decreased mean percentage of CD4 cells and an increased mean percentage of B cells in peripheral blood. Female mutant mice also exhibit abnormal thermal nociception, showing decreased sensitivity to acute pain during hot plate testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G A 8: 120,886,723 (GRCm39) E342K possibly damaging Het
Alkbh3 T C 2: 93,838,437 (GRCm39) S44G probably benign Het
Alpk2 A T 18: 65,439,555 (GRCm39) C613S probably benign Het
Aplp2 G A 9: 31,072,645 (GRCm39) R488C probably damaging Het
Arid1b A G 17: 5,387,095 (GRCm39) N1463S probably benign Het
Atxn2l A T 7: 126,100,441 (GRCm39) L125Q probably damaging Het
Cd3d A G 9: 44,897,634 (GRCm39) K172E probably benign Het
Chd7 T A 4: 8,805,234 (GRCm39) D764E probably benign Het
Col19a1 T C 1: 24,569,089 (GRCm39) I220V unknown Het
Cpq T C 15: 33,497,493 (GRCm39) I411T probably benign Het
Crybg2 C A 4: 133,792,844 (GRCm39) H160N probably benign Het
Cryl1 A T 14: 57,513,013 (GRCm39) C285S probably benign Het
Dapk1 A G 13: 60,909,365 (GRCm39) D1326G probably damaging Het
Dgkh A G 14: 78,962,459 (GRCm39) V24A probably benign Het
Dnajb4 A C 3: 151,892,154 (GRCm39) S226R probably benign Het
Dnm3 A T 1: 161,819,622 (GRCm39) I850N possibly damaging Het
Dtna G T 18: 23,758,253 (GRCm39) probably null Het
Efcab6 G T 15: 83,834,125 (GRCm39) D494E probably benign Het
Fam169a G T 13: 97,263,196 (GRCm39) E550* probably null Het
Fbxw7 A G 3: 84,832,988 (GRCm39) N10S probably benign Het
Flrt2 T C 12: 95,747,528 (GRCm39) F622S probably damaging Het
Gprc5d G A 6: 135,093,355 (GRCm39) T184I possibly damaging Het
Grem2 A G 1: 174,664,693 (GRCm39) V52A probably damaging Het
Gtf3c2 G T 5: 31,327,533 (GRCm39) T310N probably damaging Het
H2-T13 T A 17: 36,394,770 (GRCm39) N51I probably damaging Het
Hyou1 A G 9: 44,295,759 (GRCm39) D338G possibly damaging Het
Ifna6 T C 4: 88,745,971 (GRCm39) S107P probably benign Het
Kif14 G T 1: 136,399,191 (GRCm39) G451C probably benign Het
Kit T A 5: 75,798,019 (GRCm39) F436I probably damaging Het
Lonp2 G A 8: 87,440,636 (GRCm39) C751Y probably damaging Het
Lonrf1 C A 8: 36,716,375 (GRCm39) G87C probably damaging Het
Lrp2 T C 2: 69,309,687 (GRCm39) probably null Het
Lrrc37 G T 11: 103,505,738 (GRCm39) Q2077K probably benign Het
Mkln1 A G 6: 31,469,584 (GRCm39) H598R probably damaging Het
Mmaa T C 8: 79,994,774 (GRCm39) H344R probably benign Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Myh7b T G 2: 155,462,323 (GRCm39) L342R probably damaging Het
Or12e8 A G 2: 87,187,871 (GRCm39) N28D probably benign Het
Or2h2b-ps1 C T 17: 37,480,847 (GRCm39) G129R probably damaging Het
Or4f4-ps1 T A 2: 111,330,497 (GRCm39) I300K probably damaging Het
Or7e178 A T 9: 20,225,319 (GRCm39) V299E possibly damaging Het
Pcsk5 T A 19: 17,416,444 (GRCm39) Y1668F possibly damaging Het
Pfn4 C T 12: 4,824,414 (GRCm39) T47I possibly damaging Het
Pklr T C 3: 89,048,649 (GRCm39) L104P probably damaging Het
Plcxd2 A G 16: 45,800,693 (GRCm39) V177A probably benign Het
Pramel16 T C 4: 143,675,822 (GRCm39) S335G probably benign Het
Prdm10 G T 9: 31,268,528 (GRCm39) A826S probably damaging Het
Prrt4 A G 6: 29,177,455 (GRCm39) S105P probably benign Het
Prss51 T A 14: 64,334,937 (GRCm39) V164E probably damaging Het
Psap T C 10: 60,135,634 (GRCm39) V360A probably damaging Het
Psg22 T C 7: 18,452,267 (GRCm39) probably null Het
Qrfprl A G 6: 65,418,357 (GRCm39) H23R Het
Rad51 A G 2: 118,962,071 (GRCm39) Q206R probably benign Het
Rap1gds1 T C 3: 138,664,874 (GRCm39) K277R probably benign Het
Rassf2 T A 2: 131,847,297 (GRCm39) T103S probably benign Het
Rbm15b T A 9: 106,763,142 (GRCm39) H342L possibly damaging Het
Rsf1 G GACCGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Scaf8 T C 17: 3,237,909 (GRCm39) F561L probably damaging Het
Scn1a G A 2: 66,134,004 (GRCm39) A130V probably benign Het
Scn7a T C 2: 66,531,221 (GRCm39) E552G probably damaging Het
Slc39a14 T A 14: 70,551,124 (GRCm39) R183W probably damaging Het
Slfn1 A T 11: 83,012,089 (GRCm39) K68N possibly damaging Het
Slx4ip A G 2: 136,909,914 (GRCm39) D303G probably damaging Het
Snx17 T A 5: 31,352,804 (GRCm39) F101Y probably damaging Het
Spata31e3 T G 13: 50,401,131 (GRCm39) R398S probably benign Het
Specc1l C A 10: 75,066,642 (GRCm39) N30K probably benign Het
Spmip2 A G 3: 79,313,167 (GRCm39) I80M probably damaging Het
Tbx19 A G 1: 164,966,768 (GRCm39) S369P probably benign Het
Usp17ld T C 7: 102,899,489 (GRCm39) H481R probably damaging Het
Wnt2 A G 6: 17,990,036 (GRCm39) L287P probably benign Het
Zfhx4 G T 3: 5,462,016 (GRCm39) M1230I probably damaging Het
Zfp1 T C 8: 112,396,794 (GRCm39) C272R not run Het
Zfp458 A G 13: 67,407,664 (GRCm39) S64P possibly damaging Het
Other mutations in 9430015G10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:9430015G10Rik APN 4 156,203,613 (GRCm39) splice site probably benign
R1162:9430015G10Rik UTSW 4 156,206,875 (GRCm39) critical splice donor site probably null
R3824:9430015G10Rik UTSW 4 156,203,607 (GRCm39) splice site probably null
R5664:9430015G10Rik UTSW 4 156,208,016 (GRCm39) missense probably damaging 1.00
R8388:9430015G10Rik UTSW 4 156,209,888 (GRCm39) missense probably damaging 1.00
Z1176:9430015G10Rik UTSW 4 156,206,468 (GRCm39) missense probably benign 0.09
Z1177:9430015G10Rik UTSW 4 156,206,834 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- TGTCACTTGCCCATTGACTGG -3'
(R):5'- CTTGCTCAAGAAGAGTGCCCAG -3'

Sequencing Primer
(F):5'- GATGTCACTTGCCCCTGAGAG -3'
(R):5'- AGGTAGGCCTTCTCTGCACAATG -3'
Posted On 2019-11-12