Incidental Mutation 'IGL02475:Abhd6'
ID 294909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd6
Ensembl Gene ENSMUSG00000025277
Gene Name abhydrolase domain containing 6
Synonyms 0610041D24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02475
Quality Score
Status
Chromosome 14
Chromosomal Location 14413010-14466871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8039849 bp (GRCm38)
Zygosity Heterozygous
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]
AlphaFold Q8R2Y0
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: 146,119,343 (GRCm39) probably benign Het
5730409E04Rik A G 4: 126,505,742 (GRCm39) E90G probably damaging Het
Akap6 A T 12: 53,186,277 (GRCm39) E1230D probably benign Het
Bcl2l12 A G 7: 44,646,317 (GRCm39) V31A possibly damaging Het
Cep350 G A 1: 155,738,341 (GRCm39) R2501W probably damaging Het
Cnga3 A G 1: 37,297,072 (GRCm39) probably null Het
Crcp T C 5: 130,088,699 (GRCm39) probably benign Het
Creb5 G A 6: 53,670,909 (GRCm39) S304N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnah5 A G 15: 28,219,296 (GRCm39) D38G probably benign Het
Fam171a1 A G 2: 3,224,527 (GRCm39) I293V possibly damaging Het
Fbxw10 T C 11: 62,748,561 (GRCm39) V396A possibly damaging Het
Gm10340 G A 14: 14,832,274 (GRCm39) probably benign Het
Grik3 A G 4: 125,544,310 (GRCm39) T344A probably benign Het
Itga7 T C 10: 128,769,958 (GRCm39) F34S probably damaging Het
Musk T C 4: 58,353,936 (GRCm39) probably benign Het
Neb G T 2: 52,182,831 (GRCm39) N1038K probably damaging Het
Nf1 T C 11: 79,426,493 (GRCm39) Y1636H probably damaging Het
Ngef G T 1: 87,406,872 (GRCm39) T632K possibly damaging Het
Nme1nme2 A G 11: 93,846,400 (GRCm39) V16A probably damaging Het
Nts A G 10: 102,326,108 (GRCm39) probably benign Het
Olfml2b A G 1: 170,509,743 (GRCm39) D697G probably damaging Het
Or5ac23 A T 16: 59,149,088 (GRCm39) H261Q probably benign Het
Or5m8 T C 2: 85,822,376 (GRCm39) F72L probably benign Het
Or9i1 T A 19: 13,839,663 (GRCm39) C169S probably damaging Het
Otof T C 5: 30,534,026 (GRCm39) R1428G probably damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Rnaseh2b T A 14: 62,584,064 (GRCm39) F37I probably damaging Het
Rtn4 T A 11: 29,683,801 (GRCm39) I1031N probably damaging Het
Rxfp2 A G 5: 149,987,151 (GRCm39) E344G probably benign Het
Scel A G 14: 103,774,444 (GRCm39) R89G possibly damaging Het
Sirt4 T C 5: 115,621,055 (GRCm39) E39G probably benign Het
Slc6a12 T A 6: 121,331,334 (GRCm39) probably null Het
Snapc3 C A 4: 83,368,333 (GRCm39) H277N probably benign Het
Susd2 A G 10: 75,473,333 (GRCm39) probably null Het
Tagap1 T C 17: 7,223,826 (GRCm39) Q290R probably benign Het
Tenm3 A T 8: 48,732,233 (GRCm39) probably benign Het
Tmem54 A T 4: 129,002,073 (GRCm39) H40L probably damaging Het
Tnks1bp1 T C 2: 84,889,721 (GRCm39) S683P probably damaging Het
Tnpo2 A G 8: 85,777,131 (GRCm39) D547G probably benign Het
Tpd52l2 G A 2: 181,141,667 (GRCm39) V17M probably benign Het
Trip11 T A 12: 101,861,942 (GRCm39) T208S probably benign Het
Ttc17 C A 2: 94,194,721 (GRCm39) D551Y probably damaging Het
Ttll12 A T 15: 83,471,302 (GRCm39) W222R probably damaging Het
Xkr8 A T 4: 132,455,512 (GRCm39) I287N probably damaging Het
Zdhhc2 G T 8: 40,926,066 (GRCm39) G354C probably null Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Abhd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1757:Abhd6 UTSW 14 8,049,867 (GRCm38) missense probably damaging 1.00
R2011:Abhd6 UTSW 14 8,042,742 (GRCm38) missense probably benign 0.07
R2425:Abhd6 UTSW 14 8,049,857 (GRCm38) missense probably benign 0.29
R3810:Abhd6 UTSW 14 8,045,603 (GRCm38) missense probably benign 0.01
R4809:Abhd6 UTSW 14 8,039,771 (GRCm38) start codon destroyed probably null 1.00
R5841:Abhd6 UTSW 14 8,049,596 (GRCm38) missense probably benign 0.02
R5878:Abhd6 UTSW 14 8,028,286 (GRCm38) missense probably benign 0.13
R6439:Abhd6 UTSW 14 8,055,589 (GRCm38) missense probably damaging 1.00
R6582:Abhd6 UTSW 14 8,042,828 (GRCm38) critical splice donor site probably null
R6582:Abhd6 UTSW 14 8,042,826 (GRCm38) missense probably damaging 1.00
R6924:Abhd6 UTSW 14 8,049,850 (GRCm38) missense possibly damaging 0.71
R7684:Abhd6 UTSW 14 8,039,807 (GRCm38) missense probably damaging 1.00
R7844:Abhd6 UTSW 14 8,039,792 (GRCm38) missense probably benign 0.22
R8093:Abhd6 UTSW 14 8,028,353 (GRCm38) missense probably damaging 0.98
R8992:Abhd6 UTSW 14 8,028,282 (GRCm38) missense probably benign 0.10
R9499:Abhd6 UTSW 14 8,028,329 (GRCm38) missense possibly damaging 0.80
R9552:Abhd6 UTSW 14 8,028,329 (GRCm38) missense possibly damaging 0.80
R9601:Abhd6 UTSW 14 8,049,808 (GRCm38) missense possibly damaging 0.67
Posted On 2015-04-16