Incidental Mutation 'R1141:Gm12166'
ID102115
Institutional Source Beutler Lab
Gene Symbol Gm12166
Ensembl Gene ENSMUSG00000069899
Gene Namepredicted gene 12166
Synonyms
MMRRC Submission 039214-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #R1141 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location46051354-46052321 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 46051954 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 114 (A114V)
Ref Sequence ENSEMBL: ENSMUSP00000090857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011400] [ENSMUST00000093169]
Predicted Effect probably benign
Transcript: ENSMUST00000011400
SMART Domains Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pep_M12B_propep 32 163 9.4e-27 PFAM
Pfam:Reprolysin_5 209 388 1.9e-25 PFAM
Pfam:Reprolysin_4 209 399 1.5e-15 PFAM
Pfam:Reprolysin 211 409 1.3e-68 PFAM
Pfam:Reprolysin_2 231 399 6.1e-19 PFAM
Pfam:Reprolysin_3 235 357 1.2e-19 PFAM
DISIN 426 501 9.7e-41 SMART
ACR 502 650 7.46e-62 SMART
transmembrane domain 704 726 N/A INTRINSIC
low complexity region 788 797 N/A INTRINSIC
low complexity region 832 846 N/A INTRINSIC
low complexity region 886 905 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000093169
AA Change: A114V

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090857
Gene: ENSMUSG00000069899
AA Change: A114V

DomainStartEndE-ValueType
Pfam:Got1 43 154 3.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154156
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.0%
  • 10x: 94.1%
  • 20x: 84.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G A 6: 86,965,476 probably null Het
Asap2 A G 12: 21,185,110 N71S probably damaging Het
Brinp1 T C 4: 68,792,978 H331R probably benign Het
Brinp2 C A 1: 158,247,270 C427F probably damaging Het
Ccr6 A G 17: 8,256,002 Y13C probably damaging Het
Celf4 T C 18: 25,504,904 D187G probably damaging Het
Clcn6 T G 4: 148,013,899 T556P probably damaging Het
Dst A T 1: 34,188,696 Q1968L possibly damaging Het
Elavl4 G A 4: 110,251,368 Q53* probably null Het
Fbxw15 G A 9: 109,558,246 S227F probably damaging Het
Gli2 T C 1: 118,837,937 H828R possibly damaging Het
Gpr108 A G 17: 57,237,219 V397A probably damaging Het
Lrba T C 3: 86,619,558 I2241T probably damaging Het
Map3k21 G A 8: 125,941,732 V686M probably benign Het
Nfatc4 A T 14: 55,832,631 E752V probably damaging Het
R3hdm1 G A 1: 128,231,405 R939H probably benign Het
Rnf213 A G 11: 119,435,983 T1599A probably benign Het
Slc3a1 T C 17: 85,028,649 F73S possibly damaging Het
Sppl3 TGG TG 5: 115,088,293 probably null Het
Stx1b T C 7: 127,810,926 probably null Het
Tnc C T 4: 64,013,994 V728M probably damaging Het
Trim24 C T 6: 37,915,293 H254Y probably damaging Het
Ttbk2 A G 2: 120,806,851 L42P probably damaging Het
Vmn2r53 G A 7: 12,600,746 T329I possibly damaging Het
Zfp174 T A 16: 3,849,457 I170N probably benign Het
Zfp455 T A 13: 67,198,591 L22Q probably damaging Het
Other mutations in Gm12166
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0128:Gm12166 UTSW 11 46052293 start codon destroyed probably null 0.94
R3979:Gm12166 UTSW 11 46052026 missense probably damaging 1.00
R4575:Gm12166 UTSW 11 46051852 missense probably damaging 0.99
R4901:Gm12166 UTSW 11 46051829 missense probably damaging 0.97
R6807:Gm12166 UTSW 11 46052032 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15