Incidental Mutation 'R5984:9830107B12Rik'
ID 481578
Institutional Source Beutler Lab
Gene Symbol 9830107B12Rik
Ensembl Gene ENSMUSG00000073386
Gene Name RIKEN cDNA 9830107B12 gene
Synonyms
MMRRC Submission 043251-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5984 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 48436215-48453439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48439165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 130 (L130F)
Ref Sequence ENSEMBL: ENSMUSP00000070138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063481]
AlphaFold A9Q7H1
Predicted Effect probably benign
Transcript: ENSMUST00000063481
AA Change: L130F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000070138
Gene: ENSMUSG00000073386
AA Change: L130F

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 3.65e-6 SMART
low complexity region 144 158 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12 T C 11: 70,137,881 (GRCm39) T420A possibly damaging Het
Ano5 T C 7: 51,243,412 (GRCm39) I795T probably damaging Het
Atpsckmt C T 15: 31,617,065 (GRCm39) R99* probably null Het
Crlf2 G A 5: 109,703,469 (GRCm39) P92L probably damaging Het
Dgat1 T C 15: 76,386,458 (GRCm39) Y492C probably damaging Het
Dna2 G C 10: 62,798,285 (GRCm39) probably null Het
Dst A G 1: 34,211,344 (GRCm39) H982R probably benign Het
F13b A G 1: 139,435,950 (GRCm39) D252G probably damaging Het
Fgfr3 A T 5: 33,887,049 (GRCm39) E151V probably damaging Het
Gabpb1 T C 2: 126,488,573 (GRCm39) T264A probably damaging Het
Gemin5 T C 11: 58,047,587 (GRCm39) E329G probably damaging Het
Git1 C T 11: 77,397,309 (GRCm39) P721S possibly damaging Het
Hcn3 T C 3: 89,055,570 (GRCm39) E559G probably benign Het
Invs G A 4: 48,421,674 (GRCm39) A769T probably benign Het
Ism2 T A 12: 87,333,809 (GRCm39) T79S possibly damaging Het
Lamb1 G A 12: 31,377,773 (GRCm39) E1673K possibly damaging Het
Lmtk2 T A 5: 144,111,656 (GRCm39) L792H probably benign Het
Lnpk A T 2: 74,352,543 (GRCm39) S380T probably benign Het
Mff A G 1: 82,708,848 (GRCm39) I66V probably benign Het
Mtor A G 4: 148,623,284 (GRCm39) K2045E probably benign Het
Mycbp2 C A 14: 103,364,120 (GRCm39) W4393L probably damaging Het
Or1e31 T A 11: 73,690,407 (GRCm39) M59L possibly damaging Het
Or8k32 A T 2: 86,368,512 (GRCm39) V249E probably damaging Het
Pcdha5 A G 18: 37,094,733 (GRCm39) D414G probably damaging Het
Pknox2 T C 9: 36,835,022 (GRCm39) E149G probably damaging Het
Plxdc2 A G 2: 16,665,666 (GRCm39) R240G probably benign Het
Polr3d A T 14: 70,676,927 (GRCm39) F389Y possibly damaging Het
Prex1 T G 2: 166,427,664 (GRCm39) D826A probably damaging Het
Prss50 T A 9: 110,691,454 (GRCm39) S253T probably damaging Het
Ptgfrn T C 3: 100,957,459 (GRCm39) D705G probably damaging Het
Ptpn21 T A 12: 98,655,335 (GRCm39) N544I probably damaging Het
Rbm5 G A 9: 107,622,141 (GRCm39) P611L probably damaging Het
Rev3l A T 10: 39,618,685 (GRCm39) probably benign Het
Rnf139 T C 15: 58,770,595 (GRCm39) Y207H probably benign Het
Scn11a C T 9: 119,613,082 (GRCm39) R836H probably benign Het
Slc30a1 A G 1: 191,639,212 (GRCm39) T32A probably damaging Het
Smad4 T A 18: 73,810,982 (GRCm39) M1L probably benign Het
Sos1 T C 17: 80,759,561 (GRCm39) D190G possibly damaging Het
Sptbn1 C T 11: 30,068,464 (GRCm39) D1677N probably damaging Het
Tmem132e G A 11: 82,335,923 (GRCm39) D1002N probably damaging Het
Usp8 C A 2: 126,584,401 (GRCm39) Q526K probably benign Het
Wt1 A G 2: 105,002,597 (GRCm39) S488G probably benign Het
Zbtb43 A G 2: 33,344,272 (GRCm39) S318P probably benign Het
Other mutations in 9830107B12Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:9830107B12Rik APN 17 48,452,855 (GRCm39) missense possibly damaging 0.74
IGL01457:9830107B12Rik APN 17 48,439,193 (GRCm39) splice site probably benign
IGL01586:9830107B12Rik APN 17 48,439,125 (GRCm39) missense unknown
IGL01792:9830107B12Rik APN 17 48,452,680 (GRCm39) missense probably damaging 1.00
IGL01978:9830107B12Rik APN 17 48,453,164 (GRCm39) missense probably damaging 0.99
IGL02347:9830107B12Rik APN 17 48,452,835 (GRCm39) nonsense probably null
R0044:9830107B12Rik UTSW 17 48,453,357 (GRCm39) utr 5 prime probably benign
R4613:9830107B12Rik UTSW 17 48,439,167 (GRCm39) missense probably benign 0.15
R7565:9830107B12Rik UTSW 17 48,452,750 (GRCm39) missense possibly damaging 0.76
R8070:9830107B12Rik UTSW 17 48,452,681 (GRCm39) missense probably damaging 1.00
R8177:9830107B12Rik UTSW 17 48,439,174 (GRCm39) nonsense probably null
R9143:9830107B12Rik UTSW 17 48,452,605 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCACCCATGATTACAGCC -3'
(R):5'- GGGCTTCATTCATTCCACAC -3'

Sequencing Primer
(F):5'- CCATGATTACAGCCTCAATTCATG -3'
(R):5'- GGGCTTCATTCATTCCACACAGAAG -3'
Posted On 2017-06-26