Incidental Mutation 'R0010:Gm10320'
ID7991
Institutional Source Beutler Lab
Gene Symbol Gm10320
Ensembl Gene ENSMUSG00000092116
Gene Namepredicted pseudogene 10320
Synonyms
MMRRC Submission 038305-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.706) question?
Stock #R0010 (G1)
Quality Score
Status Validated
Chromosome13
Chromosomal Location98489348-98492001 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98489546 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 110 (Y110C)
Ref Sequence ENSEMBL: ENSMUSP00000126887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170205]
Predicted Effect probably damaging
Transcript: ENSMUST00000170205
AA Change: Y110C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126887
Gene: ENSMUSG00000092116
AA Change: Y110C

DomainStartEndE-ValueType
Pfam:Sec61_beta 69 107 1.9e-22 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 79.6%
  • 3x: 70.9%
  • 10x: 47.0%
  • 20x: 26.4%
Validation Efficiency 91% (78/86)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 C T 5: 81,792,403 A1320V possibly damaging Het
Ahrr G A 13: 74,283,024 probably benign Het
BC037034 T C 5: 138,260,293 probably null Het
Cd74 A T 18: 60,809,071 H124L probably benign Het
Cdk5rap2 T C 4: 70,243,459 E270G probably benign Het
Cldnd1 T A 16: 58,731,259 probably benign Het
Dennd4a T C 9: 64,896,715 L1112P probably benign Het
Evc2 T A 5: 37,417,449 L1016Q probably damaging Het
Fam135b T C 15: 71,622,032 K16R probably damaging Het
Frem1 T C 4: 83,000,098 I536V probably benign Het
Ginm1 T C 10: 7,775,374 probably benign Het
Glrb A T 3: 80,860,315 probably benign Het
Glt6d1 C A 2: 25,794,727 probably null Het
Intu T C 3: 40,654,272 probably benign Het
Ltbp1 A G 17: 75,363,391 T1476A probably damaging Het
Mcoln2 C T 3: 146,183,561 T374M probably damaging Het
Mitf A G 6: 97,807,281 K33R probably benign Het
Nlgn1 G T 3: 25,435,842 probably benign Het
Nup133 A T 8: 123,904,579 I1072N probably damaging Het
Rock1 T A 18: 10,084,380 D951V probably damaging Het
Scgb2b26 T A 7: 33,944,349 E55D probably damaging Het
Scn8a T C 15: 101,013,573 V958A probably damaging Het
Sgk1 G A 10: 21,997,438 probably null Het
Shprh C T 10: 11,151,931 T94I probably benign Het
Smg1 A T 7: 118,171,859 probably benign Het
Spta1 G A 1: 174,217,943 V1556I probably benign Het
Trappc4 G A 9: 44,405,231 probably benign Het
Txlna T G 4: 129,629,086 D487A probably benign Het
Ube2d2b T C 5: 107,830,636 F51S possibly damaging Het
Wdfy3 T C 5: 101,848,349 T3234A probably damaging Het
Zbtb41 T G 1: 139,423,530 V127G probably damaging Het
Zfp608 A T 18: 54,895,214 probably benign Het
Other mutations in Gm10320
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Gm10320 APN 13 98489537 nonsense probably null
R0010:Gm10320 UTSW 13 98489546 missense probably damaging 1.00
R0197:Gm10320 UTSW 13 98491983 missense probably benign
R1829:Gm10320 UTSW 13 98489699 missense probably damaging 0.97
R4534:Gm10320 UTSW 13 98489808 missense probably benign
R7622:Gm10320 UTSW 13 98489724 nonsense probably null
Posted On2012-11-20