Incidental Mutation 'R0094:4931429L15Rik'
ID 17969
Institutional Source Beutler Lab
Gene Symbol 4931429L15Rik
Ensembl Gene ENSMUSG00000056617
Gene Name RIKEN cDNA 4931429L15 gene
Synonyms
MMRRC Submission 038380-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0094 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 46214659-46231284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46218184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 185 (T185S)
Ref Sequence ENSEMBL: ENSMUSP00000128017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159565] [ENSMUST00000160795] [ENSMUST00000172280]
AlphaFold E9PVU2
Predicted Effect possibly damaging
Transcript: ENSMUST00000159565
AA Change: T185S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124991
Gene: ENSMUSG00000056617
AA Change: T185S

DomainStartEndE-ValueType
low complexity region 80 87 N/A INTRINSIC
low complexity region 259 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160795
Predicted Effect possibly damaging
Transcript: ENSMUST00000172280
AA Change: T185S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128017
Gene: ENSMUSG00000056617
AA Change: T185S

DomainStartEndE-ValueType
low complexity region 80 87 N/A INTRINSIC
low complexity region 259 272 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 84.5%
  • 3x: 75.9%
  • 10x: 43.5%
  • 20x: 12.9%
Validation Efficiency 86% (51/59)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,203,427 (GRCm39) probably benign Het
4930432E11Rik A G 7: 29,260,236 (GRCm39) noncoding transcript Het
Ahnak T A 19: 8,991,257 (GRCm39) D4180E probably benign Het
Amotl1 A G 9: 14,486,683 (GRCm39) S441P probably benign Het
Ankrd12 A T 17: 66,277,171 (GRCm39) D2034E probably damaging Het
B3gnt2 T C 11: 22,786,655 (GRCm39) R178G probably damaging Het
Colgalt1 T C 8: 72,075,802 (GRCm39) V483A probably damaging Het
Ctsj A C 13: 61,151,519 (GRCm39) probably null Het
Dap3 T A 3: 88,834,335 (GRCm39) M294L probably benign Het
Ddias T C 7: 92,509,108 (GRCm39) N269S possibly damaging Het
Dsg2 A T 18: 20,724,910 (GRCm39) T439S probably benign Het
Eif2b1 A G 5: 124,709,829 (GRCm39) F250L probably benign Het
Emc1 T A 4: 139,087,796 (GRCm39) F100Y probably damaging Het
Hfm1 T A 5: 107,065,344 (GRCm39) M112L probably benign Het
Lipg T C 18: 75,078,917 (GRCm39) Y445C probably benign Het
Lrp1b T C 2: 41,172,042 (GRCm39) probably benign Het
Ltbp2 A G 12: 84,846,200 (GRCm39) Y897H probably damaging Het
Mfap5 G A 6: 122,502,951 (GRCm39) V54I probably damaging Het
Mvd C T 8: 123,166,442 (GRCm39) R65H probably benign Het
Mybpc2 A G 7: 44,166,328 (GRCm39) Y221H probably damaging Het
Nbeal1 T A 1: 60,344,468 (GRCm39) I2323N possibly damaging Het
Or14c40 A G 7: 86,313,502 (GRCm39) S211G probably benign Het
Otol1 G A 3: 69,926,016 (GRCm39) A64T probably benign Het
Pcdh8 G T 14: 80,005,588 (GRCm39) D933E probably damaging Het
Pkd1 A G 17: 24,800,250 (GRCm39) T3004A possibly damaging Het
Pkhd1 T A 1: 20,279,470 (GRCm39) R2949S probably damaging Het
Ptpro T C 6: 137,363,350 (GRCm39) Y495H probably benign Het
Rad54b T C 4: 11,599,681 (GRCm39) V72A possibly damaging Het
Ranbp3 A G 17: 57,016,338 (GRCm39) probably benign Het
Rpa2 T C 4: 132,497,893 (GRCm39) S52P probably damaging Het
Serping1 T G 2: 84,603,620 (GRCm39) R140S probably benign Het
Slc34a2 T C 5: 53,221,310 (GRCm39) F252S probably benign Het
Spata45 A G 1: 190,772,059 (GRCm39) probably benign Het
Sptan1 T C 2: 29,896,635 (GRCm39) S1174P probably benign Het
Ss18l2 T C 9: 121,541,699 (GRCm39) L64P probably benign Het
Tmem81 A G 1: 132,435,787 (GRCm39) I198V probably benign Het
Trappc9 A T 15: 72,894,929 (GRCm38) probably benign Het
Ubr3 C T 2: 69,781,706 (GRCm39) T628I probably damaging Het
Zzef1 C T 11: 72,708,791 (GRCm39) T130I probably benign Het
Other mutations in 4931429L15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:4931429L15Rik APN 9 46,220,250 (GRCm39) missense possibly damaging 0.95
IGL01649:4931429L15Rik APN 9 46,217,116 (GRCm39) missense probably benign 0.00
R0094:4931429L15Rik UTSW 9 46,218,184 (GRCm39) missense possibly damaging 0.94
R1496:4931429L15Rik UTSW 9 46,221,552 (GRCm39) unclassified probably benign
R1971:4931429L15Rik UTSW 9 46,220,086 (GRCm39) missense probably benign 0.00
R2139:4931429L15Rik UTSW 9 46,215,593 (GRCm39) missense probably damaging 0.96
R4078:4931429L15Rik UTSW 9 46,215,359 (GRCm39) nonsense probably null
R4780:4931429L15Rik UTSW 9 46,220,144 (GRCm39) missense possibly damaging 0.90
R5088:4931429L15Rik UTSW 9 46,217,038 (GRCm39) missense probably benign 0.00
R5138:4931429L15Rik UTSW 9 46,218,119 (GRCm39) critical splice donor site probably null
R5419:4931429L15Rik UTSW 9 46,220,624 (GRCm39) critical splice donor site probably null
R5734:4931429L15Rik UTSW 9 46,215,303 (GRCm39) unclassified probably benign
R5739:4931429L15Rik UTSW 9 46,220,717 (GRCm39) missense probably benign 0.27
R5907:4931429L15Rik UTSW 9 46,218,120 (GRCm39) missense probably damaging 0.97
R6127:4931429L15Rik UTSW 9 46,220,220 (GRCm39) missense probably damaging 1.00
R6564:4931429L15Rik UTSW 9 46,218,202 (GRCm39) missense probably damaging 0.99
R7556:4931429L15Rik UTSW 9 46,221,611 (GRCm39) nonsense probably null
R7818:4931429L15Rik UTSW 9 46,215,519 (GRCm39) missense probably benign 0.01
R8894:4931429L15Rik UTSW 9 46,216,397 (GRCm39) missense probably benign 0.24
R8962:4931429L15Rik UTSW 9 46,220,173 (GRCm39) missense probably benign 0.01
X0024:4931429L15Rik UTSW 9 46,220,267 (GRCm39) small deletion probably benign
Z1177:4931429L15Rik UTSW 9 46,217,136 (GRCm39) missense probably damaging 0.96
Posted On 2013-03-25