Incidental Mutation 'R0044:9830107B12Rik'
ID 18550
Institutional Source Beutler Lab
Gene Symbol 9830107B12Rik
Ensembl Gene ENSMUSG00000073386
Gene Name RIKEN cDNA 9830107B12 gene
Synonyms
MMRRC Submission 038338-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0044 (G1)
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 48436215-48453439 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to A at 48453357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000070138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063481]
AlphaFold A9Q7H1
Predicted Effect probably benign
Transcript: ENSMUST00000063481
SMART Domains Protein: ENSMUSP00000070138
Gene: ENSMUSG00000073386

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 79.0%
  • 3x: 68.4%
  • 10x: 42.5%
  • 20x: 22.8%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A G 13: 68,876,018 (GRCm39) S495P possibly damaging Het
Asxl1 C T 2: 153,242,129 (GRCm39) T893I probably benign Het
Bpifb2 C T 2: 153,724,599 (GRCm39) probably benign Het
Cdk5rap2 A T 4: 70,279,138 (GRCm39) L190H probably damaging Het
Cpsf1 A G 15: 76,483,753 (GRCm39) V830A probably benign Het
Degs2 T C 12: 108,658,413 (GRCm39) N189D probably damaging Het
Dido1 C T 2: 180,303,612 (GRCm39) A1431T probably damaging Het
Diras1 G T 10: 80,857,972 (GRCm39) S93* probably null Het
Emc3 C G 6: 113,508,344 (GRCm39) V34L probably benign Het
Gbe1 T A 16: 70,358,020 (GRCm39) Y681* probably null Het
Herc1 T A 9: 66,355,457 (GRCm39) M2236K probably benign Het
Hmcn2 A T 2: 31,302,520 (GRCm39) Y2948F probably damaging Het
Kif1b A G 4: 149,348,058 (GRCm39) probably benign Het
Lrp2 T A 2: 69,357,899 (GRCm39) I377F probably damaging Het
Mavs C A 2: 131,083,944 (GRCm39) T147N probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Ogdhl T C 14: 32,061,285 (GRCm39) V492A possibly damaging Het
Parvg A G 15: 84,222,083 (GRCm39) E323G probably benign Het
Pgm2l1 A G 7: 99,899,539 (GRCm39) N51S probably benign Het
Plppr5 T A 3: 117,465,538 (GRCm39) probably null Het
Prkcg A T 7: 3,363,517 (GRCm39) probably benign Het
Prkg2 C A 5: 99,120,989 (GRCm39) D411Y probably damaging Het
Ptprd A G 4: 76,004,566 (GRCm39) V63A probably benign Het
Raf1 T A 6: 115,600,476 (GRCm39) D10V probably benign Het
Rrm2b A G 15: 37,953,932 (GRCm39) S39P possibly damaging Het
Scn5a A G 9: 119,321,113 (GRCm39) probably null Het
Spata24 A G 18: 35,789,887 (GRCm39) S167P probably damaging Het
Spock3 C T 8: 63,597,041 (GRCm39) T115I possibly damaging Het
Tnfaip3 C A 10: 18,887,374 (GRCm39) M50I probably damaging Het
Ubr2 A G 17: 47,303,911 (GRCm39) probably benign Het
Ubr4 T C 4: 139,164,369 (GRCm39) probably benign Het
Xkr9 G A 1: 13,754,286 (GRCm39) W93* probably null 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
R4613:9830107B12Rik UTSW 17 48,439,167 (GRCm39) missense probably benign 0.15
R5984:9830107B12Rik UTSW 17 48,439,165 (GRCm39) missense probably benign 0.00
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
Posted On 2013-03-25