Incidental Mutation 'IGL02683:Abhd3'
ID 303442
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 # IGL02683
Quality Score
Status
Chromosome 18
Chromosomal Location 10644411-10706784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10658790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 215 (S215P)
Ref Sequence ENSEMBL: ENSMUSP00000113137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002549] [ENSMUST00000117726] [ENSMUST00000117828]
AlphaFold Q91ZH7
Predicted Effect probably damaging
Transcript: ENSMUST00000002549
AA Change: S220P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002549
Gene: ENSMUSG00000002475
AA Change: S220P

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 damaging
Transcript: ENSMUST00000117726
AA Change: S215P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112768
Gene: ENSMUSG00000002475
AA Change: S215P

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 damaging
Transcript: ENSMUST00000117828
AA Change: S215P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113137
Gene: ENSMUSG00000002475
AA Change: S215P

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 probably benign
Transcript: ENSMUST00000144150
SMART Domains Protein: ENSMUSP00000116037
Gene: ENSMUSG00000002475

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,779,163 (GRCm39) probably benign Het
Adam20 G A 8: 41,248,621 (GRCm39) V244M probably damaging Het
Akr1c21 A C 13: 4,626,312 (GRCm39) D112A probably damaging Het
Ano6 A T 15: 95,846,193 (GRCm39) Y498F probably damaging Het
Aspscr1 T C 11: 120,592,052 (GRCm39) F263S probably damaging Het
Capn11 A G 17: 45,964,517 (GRCm39) F100S probably damaging Het
Cd63 T C 10: 128,746,299 (GRCm39) C9R probably damaging Het
Cenpj T C 14: 56,790,409 (GRCm39) K547E possibly damaging Het
Clasp1 A G 1: 118,466,996 (GRCm39) D793G probably benign Het
Cmya5 G A 13: 93,227,505 (GRCm39) Q2528* probably null Het
Crybg1 A G 10: 43,865,212 (GRCm39) S1422P possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnal1 G A 12: 84,185,128 (GRCm39) G178D probably damaging Het
E2f7 T C 10: 110,618,320 (GRCm39) M795T probably benign Het
Glipr1l2 T C 10: 111,919,381 (GRCm39) V34A probably benign Het
Gsdmc2 C T 15: 63,705,261 (GRCm39) V151M probably damaging Het
Htr7 T C 19: 35,937,762 (GRCm39) T448A probably benign Het
Kcnj5 T C 9: 32,229,076 (GRCm39) T41A possibly damaging Het
Kcnt1 T C 2: 25,790,937 (GRCm39) M12T possibly damaging Het
Kif1c G A 11: 70,617,278 (GRCm39) A871T possibly damaging Het
Map3k10 T C 7: 27,358,362 (GRCm39) K571R probably damaging Het
Med23 C A 10: 24,746,615 (GRCm39) A45E probably benign Het
Nudt5 C A 2: 5,868,412 (GRCm39) S103R probably damaging Het
Or9m1 T A 2: 87,733,448 (GRCm39) T191S possibly damaging Het
Parp3 A G 9: 106,350,384 (GRCm39) S369P possibly damaging Het
Plxna4 A T 6: 32,494,541 (GRCm39) L25Q probably benign Het
Pon2 A G 6: 5,269,062 (GRCm39) V204A probably damaging Het
Ppfia1 A G 7: 144,067,095 (GRCm39) M463T probably damaging Het
Ppp1r14d T C 2: 119,049,303 (GRCm39) E95G probably damaging Het
Pramel18 T C 4: 101,767,551 (GRCm39) S267P probably benign Het
Prrc2a A G 17: 35,374,969 (GRCm39) V1227A probably benign Het
Rabgap1 T A 2: 37,392,951 (GRCm39) W536R probably damaging Het
Slco6d1 A G 1: 98,408,397 (GRCm39) N431S probably benign Het
Spen C T 4: 141,198,956 (GRCm39) V3224I probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssh2 A G 11: 77,289,082 (GRCm39) D88G probably damaging Het
Stat5b T G 11: 100,695,772 (GRCm39) K70T probably benign Het
Tex44 A G 1: 86,355,465 (GRCm39) D458G probably benign Het
Tut1 T A 19: 8,942,622 (GRCm39) C570S probably benign Het
Usp42 T C 5: 143,701,101 (GRCm39) E974G possibly damaging Het
Vezf1 A T 11: 87,967,153 (GRCm39) Q310L probably benign Het
Vmn2r83 A T 10: 79,327,115 (GRCm39) R574S probably benign Het
Zfp664 T C 5: 124,963,386 (GRCm39) V260A 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
IGL02666:Abhd3 APN 18 10,645,148 (GRCm39) missense probably benign 0.00
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