Incidental Mutation 'IGL02666:Abhd3'
ID 302739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd3
Ensembl Gene ENSMUSG00000002475
Gene Name abhydrolase domain containing 3
Synonyms LABH3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.630) question?
Stock # IGL02666
Quality Score
Status
Chromosome 18
Chromosomal Location 10644411-10706784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10645148 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91ZH7
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: 25,138,944 (GRCm39) noncoding transcript Het
Abca15 G A 7: 119,934,431 (GRCm39) V136M probably damaging Het
Cux1 C A 5: 136,304,169 (GRCm39) E1336* probably null Het
Cyb5r3 T C 15: 83,044,554 (GRCm39) I155V probably damaging Het
Ddx24 T C 12: 103,390,314 (GRCm39) T226A possibly damaging Het
Dld T C 12: 31,382,408 (GRCm39) N465S probably null Het
Dnmbp A G 19: 43,842,566 (GRCm39) probably benign Het
Dock9 T C 14: 121,818,111 (GRCm39) H1580R probably benign Het
Drd3 C A 16: 43,637,319 (GRCm39) probably benign Het
Gabrb2 G T 11: 42,420,322 (GRCm39) probably null Het
Gbp9 T C 5: 105,242,141 (GRCm39) probably null Het
Inhba A T 13: 16,201,664 (GRCm39) I409F possibly damaging Het
Iqgap2 T C 13: 95,764,564 (GRCm39) N1560S probably damaging Het
Itsn1 A G 16: 91,617,606 (GRCm39) probably benign Het
Kat6b T C 14: 21,678,938 (GRCm39) F434L probably damaging Het
Klra1 A G 6: 130,341,278 (GRCm39) C232R probably damaging Het
Krt18 T A 15: 101,938,302 (GRCm39) I175N probably damaging Het
Lck A G 4: 129,450,212 (GRCm39) V178A probably damaging Het
Mroh4 C A 15: 74,481,624 (GRCm39) G737V probably benign Het
Mug2 A C 6: 122,058,285 (GRCm39) L1282F probably damaging Het
Myo9a A G 9: 59,832,187 (GRCm39) N2572S probably benign Het
Nup88 G T 11: 70,834,695 (GRCm39) probably benign Het
Nxph3 G T 11: 95,401,834 (GRCm39) H193Q possibly damaging Het
Or5b97 G T 19: 12,878,221 (GRCm39) H308N probably benign Het
Orm2 A G 4: 63,283,970 (GRCm39) T198A possibly damaging Het
Pom121 T C 5: 135,415,686 (GRCm39) I397V unknown Het
Prex1 C A 2: 166,414,909 (GRCm39) E1313D probably benign Het
Prkg2 T A 5: 99,145,378 (GRCm39) probably benign Het
Prl2a1 A T 13: 27,990,310 (GRCm39) K86N possibly damaging Het
Ptpro G A 6: 137,355,057 (GRCm39) S188N probably damaging Het
Ptprz1 A T 6: 23,001,209 (GRCm39) I1100F probably benign Het
Ryr1 C A 7: 28,719,188 (GRCm39) M4406I unknown Het
Sdf4 T A 4: 156,093,281 (GRCm39) Y204* probably null Het
Serinc1 A T 10: 57,400,089 (GRCm39) probably null Het
Slc39a5 C T 10: 128,234,324 (GRCm39) R193H probably damaging Het
Smad9 A G 3: 54,689,888 (GRCm39) K36R probably damaging Het
Spam1 T A 6: 24,796,123 (GRCm39) L25I possibly damaging Het
Stab2 A T 10: 86,686,766 (GRCm39) S809R possibly damaging Het
Szt2 G A 4: 118,231,252 (GRCm39) R35C probably damaging Het
Tcaf2 C A 6: 42,606,058 (GRCm39) probably benign Het
Tfap2d A C 1: 19,174,979 (GRCm39) D144A probably benign Het
Tmprss11d A T 5: 86,479,052 (GRCm39) V117D probably damaging Het
Tnxb A G 17: 34,903,913 (GRCm39) D1141G probably benign Het
Traf6 A T 2: 101,527,512 (GRCm39) T421S possibly damaging Het
Txndc16 G A 14: 45,448,607 (GRCm39) probably benign Het
Utp25 G A 1: 192,789,904 (GRCm39) Q752* probably null Het
Vmn1r73 C A 7: 11,490,865 (GRCm39) P228T probably damaging Het
Vmn2r4 A G 3: 64,296,433 (GRCm39) I784T probably benign Het
Zfp420 A G 7: 29,573,795 (GRCm39) D5G probably benign Het
Other mutations in Abhd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Abhd3 APN 18 10,647,869 (GRCm39) missense possibly damaging 0.94
IGL00825:Abhd3 APN 18 10,704,657 (GRCm39) missense probably benign
IGL02683:Abhd3 APN 18 10,658,790 (GRCm39) missense probably damaging 1.00
PIT4486001:Abhd3 UTSW 18 10,645,233 (GRCm39) missense probably benign 0.23
R0158:Abhd3 UTSW 18 10,647,840 (GRCm39) missense possibly damaging 0.68
R0539:Abhd3 UTSW 18 10,645,208 (GRCm39) missense possibly damaging 0.89
R4543:Abhd3 UTSW 18 10,706,672 (GRCm39) missense possibly damaging 0.88
R4847:Abhd3 UTSW 18 10,647,786 (GRCm39) missense possibly damaging 0.78
R5924:Abhd3 UTSW 18 10,706,085 (GRCm39) missense probably damaging 1.00
R6210:Abhd3 UTSW 18 10,706,032 (GRCm39) missense probably damaging 0.97
R7020:Abhd3 UTSW 18 10,645,127 (GRCm39) missense probably damaging 1.00
R9232:Abhd3 UTSW 18 10,652,198 (GRCm39) missense probably benign 0.00
R9456:Abhd3 UTSW 18 10,645,121 (GRCm39) missense probably benign 0.03
R9620:Abhd3 UTSW 18 10,704,605 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16