Incidental Mutation 'IGL02666:Abhd3'
ID302739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd3
Ensembl Gene ENSMUSG00000002475
Gene Nameabhydrolase domain containing 3
SynonymsLABH3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.330) question?
Stock #IGL02666
Quality Score
Status
Chromosome18
Chromosomal Location10644411-10706771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 10645148 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 382 (I382T)
Ref Sequence ENSEMBL: ENSMUSP00000002549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002549] [ENSMUST00000117726] [ENSMUST00000117828]
Predicted Effect probably benign
Transcript: ENSMUST00000002549
AA Change: I382T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000002549
Gene: ENSMUSG00000002475
AA Change: I382T

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
Pfam:Abhydrolase_1 140 252 2.4e-10 PFAM
Pfam:Abhydrolase_5 141 376 1.2e-10 PFAM
Pfam:Abhydrolase_6 142 384 9.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117726
AA Change: I373T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112768
Gene: ENSMUSG00000002475
AA Change: I373T

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Abhydrolase_5 136 374 5.3e-10 PFAM
Pfam:Abhydrolase_6 137 379 2.8e-17 PFAM
Pfam:Abhydrolase_1 164 373 6.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117828
AA Change: I377T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113137
Gene: ENSMUSG00000002475
AA Change: I377T

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Abhydrolase_5 136 371 9e-11 PFAM
Pfam:Abhydrolase_6 137 383 1.6e-17 PFAM
Pfam:Abhydrolase_1 164 377 4e-13 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000144150
AA Change: I144T
SMART Domains Protein: ENSMUSP00000116037
Gene: ENSMUSG00000002475
AA Change: I144T

DomainStartEndE-ValueType
low complexity region 1 8 N/A INTRINSIC
SCOP:d1ibja_ 121 158 3e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,138,858 noncoding transcript Het
Abca15 G A 7: 120,335,208 V136M probably damaging Het
Cux1 C A 5: 136,275,315 E1336* probably null Het
Cyb5r3 T C 15: 83,160,353 I155V probably damaging Het
Ddx24 T C 12: 103,424,055 T226A possibly damaging Het
Diexf G A 1: 193,107,596 Q752* probably null Het
Dld T C 12: 31,332,409 N465S probably null Het
Dnmbp A G 19: 43,854,127 probably benign Het
Dock9 T C 14: 121,580,699 H1580R probably benign Het
Drd3 C A 16: 43,816,956 probably benign Het
Gabrb2 G T 11: 42,529,495 probably null Het
Gbp9 T C 5: 105,094,275 probably null Het
Inhba A T 13: 16,027,079 I409F possibly damaging Het
Iqgap2 T C 13: 95,628,056 N1560S probably damaging Het
Itsn1 A G 16: 91,820,718 probably benign Het
Kat6b T C 14: 21,628,870 F434L probably damaging Het
Klra1 A G 6: 130,364,315 C232R probably damaging Het
Krt18 T A 15: 102,029,867 I175N probably damaging Het
Lck A G 4: 129,556,419 V178A probably damaging Het
Mroh4 C A 15: 74,609,775 G737V probably benign Het
Mug2 A C 6: 122,081,326 L1282F probably damaging Het
Myo9a A G 9: 59,924,904 N2572S probably benign Het
Nup88 G T 11: 70,943,869 probably benign Het
Nxph3 G T 11: 95,511,008 H193Q possibly damaging Het
Olfr1447 G T 19: 12,900,857 H308N probably benign Het
Orm2 A G 4: 63,365,733 T198A possibly damaging Het
Pom121 T C 5: 135,386,832 I397V unknown Het
Prex1 C A 2: 166,572,989 E1313D probably benign Het
Prkg2 T A 5: 98,997,519 probably benign Het
Prl2a1 A T 13: 27,806,327 K86N possibly damaging Het
Ptpro G A 6: 137,378,059 S188N probably damaging Het
Ptprz1 A T 6: 23,001,210 I1100F probably benign Het
Ryr1 C A 7: 29,019,763 M4406I unknown Het
Sdf4 T A 4: 156,008,824 Y204* probably null Het
Serinc1 A T 10: 57,523,993 probably null Het
Slc39a5 C T 10: 128,398,455 R193H probably damaging Het
Smad9 A G 3: 54,782,467 K36R probably damaging Het
Spam1 T A 6: 24,796,124 L25I possibly damaging Het
Stab2 A T 10: 86,850,902 S809R possibly damaging Het
Szt2 G A 4: 118,374,055 R35C probably damaging Het
Tcaf2 C A 6: 42,629,124 probably benign Het
Tfap2d A C 1: 19,104,755 D144A probably benign Het
Tmprss11d A T 5: 86,331,193 V117D probably damaging Het
Tnxb A G 17: 34,684,939 D1141G probably benign Het
Traf6 A T 2: 101,697,167 T421S possibly damaging Het
Txndc16 G A 14: 45,211,150 probably benign Het
Vmn1r73 C A 7: 11,756,938 P228T probably damaging Het
Vmn2r4 A G 3: 64,389,012 I784T probably benign Het
Zfp420 A G 7: 29,874,370 D5G probably benign Het
Other mutations in Abhd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Abhd3 APN 18 10647869 missense possibly damaging 0.94
IGL00825:Abhd3 APN 18 10704657 missense probably benign
IGL02683:Abhd3 APN 18 10658790 missense probably damaging 1.00
PIT4486001:Abhd3 UTSW 18 10645233 missense probably benign 0.23
R0158:Abhd3 UTSW 18 10647840 missense possibly damaging 0.68
R0539:Abhd3 UTSW 18 10645208 missense possibly damaging 0.89
R4543:Abhd3 UTSW 18 10706672 missense possibly damaging 0.88
R4847:Abhd3 UTSW 18 10647786 missense possibly damaging 0.78
R5924:Abhd3 UTSW 18 10706085 missense probably damaging 1.00
R6210:Abhd3 UTSW 18 10706032 missense probably damaging 0.97
R7020:Abhd3 UTSW 18 10645127 missense probably damaging 1.00
Posted On2015-04-16