Incidental Mutation 'R1145:Gm10553'
Institutional Source Beutler Lab
Gene Symbol Gm10553
Ensembl Gene ENSMUSG00000073631
Gene Namepredicted gene 10553
MMRRC Submission 039218-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #R1145 (G1)
Quality Score99
Status Not validated
Chromosomal Location85100164-85100535 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85100449 bp
Amino Acid Change Serine to Proline at position 96 (S96P)
Ref Sequence ENSEMBL: ENSMUSP00000137265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097669] [ENSMUST00000160792] [ENSMUST00000161675] [ENSMUST00000161724]
Predicted Effect probably benign
Transcript: ENSMUST00000097669
AA Change: S96P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137265
Gene: ENSMUSG00000073631
AA Change: S96P

low complexity region 111 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159114
Predicted Effect probably benign
Transcript: ENSMUST00000160792
SMART Domains Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844

Pfam:Sp100 23 125 9.7e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161675
SMART Domains Protein: ENSMUSP00000123812
Gene: ENSMUSG00000089844

Pfam:Sp100 23 121 3.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161724
SMART Domains Protein: ENSMUSP00000123750
Gene: ENSMUSG00000089844

Pfam:Sp100 24 122 2.4e-40 PFAM
Meta Mutation Damage Score 0.1112 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.4%
  • 10x: 88.4%
  • 20x: 65.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,668,276 S1257P possibly damaging Het
Arhgef5 C A 6: 43,273,088 Q258K possibly damaging Het
Armc4 G T 18: 7,268,436 P361Q probably damaging Het
C1s1 C A 6: 124,540,800 D74Y probably damaging Het
Cpxm2 A G 7: 132,057,648 S497P probably damaging Het
Ctsj C T 13: 61,002,543 S214N probably damaging Het
Dnali1 T C 4: 125,065,547 S18G possibly damaging Het
Eif4g3 C T 4: 138,165,818 T959M probably damaging Het
Eml6 A G 11: 29,777,430 F1231L probably benign Het
Glp1r T C 17: 30,919,432 V160A probably benign Het
Gm9726 C T 12: 93,928,280 noncoding transcript Het
Hmcn1 A T 1: 150,679,607 probably null Het
Ldb2 A G 5: 44,532,674 L201P probably damaging Het
Otud6b T A 4: 14,812,532 T272S probably benign Het
Pnpla2 T C 7: 141,455,416 Y44H probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Sel1l3 C T 5: 53,131,827 R884H probably damaging Het
Slc43a2 T A 11: 75,566,989 Y363* probably null Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 55,016,461 probably benign Het
Tap2 C A 17: 34,215,940 D652E possibly damaging Het
Unc80 T C 1: 66,472,088 V85A probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,359,988 probably benign Het
Vwa3a T C 7: 120,793,343 Y802H probably damaging Het
Zc3h4 G A 7: 16,416,913 R60Q possibly damaging Het
Other mutations in Gm10553
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Gm10553 APN 1 85100294 missense probably damaging 0.97
IGL02928:Gm10553 APN 1 85100212 missense possibly damaging 0.66
R1029:Gm10553 UTSW 1 85100449 missense probably benign
R1950:Gm10553 UTSW 1 85100420 missense possibly damaging 0.90
Predicted Primers
Posted On2014-01-15