Incidental Mutation 'IGL02113:Gm12887'
ID280227
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm12887
Ensembl Gene ENSMUSG00000078575
Gene Namepredicted gene 12887
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL02113
Quality Score
Status
Chromosome4
Chromosomal Location121614271-121622103 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121616495 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 53 (M53V)
Ref Sequence ENSEMBL: ENSMUSP00000101872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106265]
Predicted Effect probably benign
Transcript: ENSMUST00000106265
AA Change: M53V

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101872
Gene: ENSMUSG00000078575
AA Change: M53V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Palm_thioest 37 119 2.4e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,110,478 H726L possibly damaging Het
Aqr A T 2: 114,120,027 Y900* probably null Het
Atp11a G T 8: 12,865,048 R1155S probably benign Het
Bahd1 A G 2: 118,917,205 D435G probably benign Het
Brca2 A G 5: 150,540,979 T1403A possibly damaging Het
Cc2d2a T A 5: 43,685,248 probably null Het
Cog7 A G 7: 121,925,480 I697T probably damaging Het
Dclre1a A G 19: 56,541,532 V791A probably damaging Het
Dgki A G 6: 36,913,625 probably benign Het
Dpyd A G 3: 118,999,219 Y525C probably benign Het
Eepd1 T C 9: 25,482,713 L91P probably damaging Het
Foxf1 T A 8: 121,084,565 L56H probably damaging Het
Fry A T 5: 150,399,605 M1074L probably benign Het
Gbx1 T C 5: 24,504,876 T324A probably damaging Het
Gfpt1 T A 6: 87,087,367 N646K probably benign Het
Gm10258 C T 3: 30,268,393 probably benign Het
Hoxa11 C T 6: 52,245,317 G135S probably damaging Het
Mettl6 A T 14: 31,482,831 Y211* probably null Het
Moxd2 T C 6: 40,885,404 I160M probably benign Het
Mphosph10 G A 7: 64,376,807 probably benign Het
Mrpl19 T A 6: 81,965,915 M5L probably benign Het
Nbea A G 3: 55,992,492 V1412A probably benign Het
Nceh1 G T 3: 27,222,891 S121I probably damaging Het
Ntan1 A G 16: 13,835,144 T217A probably damaging Het
Ogfod1 C T 8: 94,064,213 A504V probably damaging Het
Olfr584 A T 7: 103,085,850 I111L possibly damaging Het
Pde3b G A 7: 114,526,906 V792M probably damaging Het
Pde9a A T 17: 31,459,970 M262L probably benign Het
Pi4ka A G 16: 17,373,415 V206A probably benign Het
Pkp1 A T 1: 135,883,914 N406K possibly damaging Het
Rcn3 A G 7: 45,083,338 I302T probably damaging Het
Rfx6 A G 10: 51,678,012 Q68R probably benign Het
Rpgrip1 A G 14: 52,133,844 D340G possibly damaging Het
Scn10a C T 9: 119,609,890 G1638S probably damaging Het
Serpinb9f A T 13: 33,334,468 H317L probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 A G 1: 45,910,894 I466T probably benign Het
Smyd2 A T 1: 189,882,217 S371R probably damaging Het
Snap47 A C 11: 59,428,436 I292S probably damaging Het
Tbx4 A G 11: 85,912,264 E322G possibly damaging Het
Tg A G 15: 66,705,330 T1501A probably benign Het
Tmem259 A G 10: 79,978,709 V300A probably benign Het
Usp7 A G 16: 8,716,513 probably null Het
Vmn2r94 G T 17: 18,257,675 T158K probably damaging Het
Vmn2r95 G T 17: 18,439,907 A194S possibly damaging Het
Zfp944 A T 17: 22,339,066 I400N possibly damaging Het
Zmynd12 T A 4: 119,433,997 I53K probably damaging Het
Other mutations in Gm12887
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Gm12887 APN 4 121616413 splice site probably benign
R0055:Gm12887 UTSW 4 121616469 missense probably damaging 0.98
R0055:Gm12887 UTSW 4 121616469 missense probably damaging 0.98
R1673:Gm12887 UTSW 4 121616458 missense probably damaging 0.98
R1784:Gm12887 UTSW 4 121616518 missense probably benign 0.44
R1843:Gm12887 UTSW 4 121622030 missense probably damaging 0.98
R4231:Gm12887 UTSW 4 121622102 start codon destroyed probably null 0.53
R5258:Gm12887 UTSW 4 121615700 missense probably benign
R6528:Gm12887 UTSW 4 121615637 missense probably damaging 1.00
Posted On2015-04-16