Incidental Mutation 'IGL02475:Abhd6'
ID294909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd6
Ensembl Gene ENSMUSG00000025277
Gene Nameabhydrolase domain containing 6
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02475
Quality Score
Status
Chromosome14
Chromosomal Location8002902-8056763 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 8039849 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 27 (I27N)
Ref Sequence ENSEMBL: ENSMUSP00000153068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026313] [ENSMUST00000166497] [ENSMUST00000225234]
Predicted Effect probably damaging
Transcript: ENSMUST00000026313
AA Change: I74N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026313
Gene: ENSMUSG00000025277
AA Change: I74N

DomainStartEndE-ValueType
Pfam:Hydrolase_4 68 313 6.4e-17 PFAM
Pfam:Abhydrolase_1 72 193 3.8e-17 PFAM
Pfam:Abhydrolase_5 73 307 1e-17 PFAM
Pfam:Abhydrolase_6 74 319 9e-22 PFAM
Pfam:Abhydrolase_1 222 313 1.3e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166497
AA Change: I74N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129169
Gene: ENSMUSG00000025277
AA Change: I74N

DomainStartEndE-ValueType
Pfam:Lipase 51 183 1.1e-8 PFAM
Pfam:Abhydrolase_5 73 307 8e-18 PFAM
Pfam:Abhydrolase_6 74 319 1.7e-39 PFAM
Pfam:Abhydrolase_1 98 322 3.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000225234
AA Change: I27N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,182,533 probably benign Het
5730409E04Rik A G 4: 126,611,949 E90G probably damaging Het
Akap6 A T 12: 53,139,494 E1230D probably benign Het
Bcl2l12 A G 7: 44,996,893 V31A possibly damaging Het
Cep350 G A 1: 155,862,595 R2501W probably damaging Het
Cnga3 A G 1: 37,257,991 probably null Het
Crcp T C 5: 130,059,858 probably benign Het
Creb5 G A 6: 53,693,924 S304N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah5 A G 15: 28,219,150 D38G probably benign Het
Fam171a1 A G 2: 3,223,490 I293V possibly damaging Het
Fbxw10 T C 11: 62,857,735 V396A possibly damaging Het
Gm10340 G A 14: 3,140,482 probably benign Het
Gm20390 A G 11: 93,955,574 V16A probably damaging Het
Grik3 A G 4: 125,650,517 T344A probably benign Het
Itga7 T C 10: 128,934,089 F34S probably damaging Het
Musk T C 4: 58,353,936 probably benign Het
Neb G T 2: 52,292,819 N1038K probably damaging Het
Nf1 T C 11: 79,535,667 Y1636H probably damaging Het
Ngef G T 1: 87,479,150 T632K possibly damaging Het
Nts A G 10: 102,490,247 probably benign Het
Olfml2b A G 1: 170,682,174 D697G probably damaging Het
Olfr1031 T C 2: 85,992,032 F72L probably benign Het
Olfr1502 T A 19: 13,862,299 C169S probably damaging Het
Olfr205 A T 16: 59,328,725 H261Q probably benign Het
Otof T C 5: 30,376,682 R1428G probably damaging Het
Pgghg T C 7: 140,945,720 S479P Het
Rnaseh2b T A 14: 62,346,615 F37I probably damaging Het
Rtn4 T A 11: 29,733,801 I1031N probably damaging Het
Rxfp2 A G 5: 150,063,686 E344G probably benign Het
Scel A G 14: 103,537,008 R89G possibly damaging Het
Sirt4 T C 5: 115,482,996 E39G probably benign Het
Slc6a12 T A 6: 121,354,375 probably null Het
Snapc3 C A 4: 83,450,096 H277N probably benign Het
Susd2 A G 10: 75,637,499 probably null Het
Tagap1 T C 17: 6,956,427 Q290R probably benign Het
Tenm3 A T 8: 48,279,198 probably benign Het
Tmem54 A T 4: 129,108,280 H40L probably damaging Het
Tnks1bp1 T C 2: 85,059,377 S683P probably damaging Het
Tnpo2 A G 8: 85,050,502 D547G probably benign Het
Tpd52l2 G A 2: 181,499,874 V17M probably benign Het
Trip11 T A 12: 101,895,683 T208S probably benign Het
Ttc17 C A 2: 94,364,376 D551Y probably damaging Het
Ttll12 A T 15: 83,587,101 W222R probably damaging Het
Xkr8 A T 4: 132,728,201 I287N probably damaging Het
Zdhhc2 G T 8: 40,473,025 G354C probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Abhd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1757:Abhd6 UTSW 14 8049867 missense probably damaging 1.00
R2011:Abhd6 UTSW 14 8042742 missense probably benign 0.07
R2425:Abhd6 UTSW 14 8049857 missense probably benign 0.29
R3810:Abhd6 UTSW 14 8045603 missense probably benign 0.01
R4809:Abhd6 UTSW 14 8039771 start codon destroyed probably null 1.00
R5841:Abhd6 UTSW 14 8049596 missense probably benign 0.02
R5878:Abhd6 UTSW 14 8028286 missense probably benign 0.13
R6439:Abhd6 UTSW 14 8055589 missense probably damaging 1.00
R6582:Abhd6 UTSW 14 8042826 missense probably damaging 1.00
R6582:Abhd6 UTSW 14 8042828 critical splice donor site probably null
R6924:Abhd6 UTSW 14 8049850 missense possibly damaging 0.71
R7684:Abhd6 UTSW 14 8039807 missense probably damaging 1.00
R7844:Abhd6 UTSW 14 8039792 missense probably benign 0.22
R8093:Abhd6 UTSW 14 8028353 missense probably damaging 0.98
Posted On2015-04-16