Incidental Mutation 'IGL02683:Abhd3'
ID303442
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 essential (E-score: 0.541) question?
Stock #IGL02683
Quality Score
Status
Chromosome18
Chromosomal Location10644411-10706771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 10658790 bp
ZygosityHeterozygous
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]
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
Aars T C 8: 111,052,531 probably benign Het
Adam20 G A 8: 40,795,584 V244M probably damaging Het
Akr1c21 A C 13: 4,576,313 D112A probably damaging Het
Ano6 A T 15: 95,948,312 Y498F probably damaging Het
Aspscr1 T C 11: 120,701,226 F263S probably damaging Het
Capn11 A G 17: 45,653,591 F100S probably damaging Het
Cd63 T C 10: 128,910,430 C9R probably damaging Het
Cenpj T C 14: 56,552,952 K547E possibly damaging Het
Clasp1 A G 1: 118,539,266 D793G probably benign Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Crybg1 A G 10: 43,989,216 S1422P possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnal1 G A 12: 84,138,354 G178D probably damaging Het
E2f7 T C 10: 110,782,459 M795T probably benign Het
Glipr1l2 T C 10: 112,083,476 V34A probably benign Het
Gm12800 T C 4: 101,910,354 S267P probably benign Het
Gsdmc2 C T 15: 63,833,412 V151M probably damaging Het
Htr7 T C 19: 35,960,362 T448A probably benign Het
Kcnj5 T C 9: 32,317,780 T41A possibly damaging Het
Kcnt1 T C 2: 25,900,925 M12T possibly damaging Het
Kif1c G A 11: 70,726,452 A871T possibly damaging Het
Map3k10 T C 7: 27,658,937 K571R probably damaging Het
Med23 C A 10: 24,870,717 A45E probably benign Het
Nudt5 C A 2: 5,863,601 S103R probably damaging Het
Olfr1154 T A 2: 87,903,104 T191S possibly damaging Het
Parp3 A G 9: 106,473,185 S369P possibly damaging Het
Plxna4 A T 6: 32,517,606 L25Q probably benign Het
Pon2 A G 6: 5,269,062 V204A probably damaging Het
Ppfia1 A G 7: 144,513,358 M463T probably damaging Het
Ppp1r14d T C 2: 119,218,822 E95G probably damaging Het
Prrc2a A G 17: 35,155,993 V1227A probably benign Het
Rabgap1 T A 2: 37,502,939 W536R probably damaging Het
Slco6d1 A G 1: 98,480,672 N431S probably benign Het
Spen C T 4: 141,471,645 V3224I probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,398,256 D88G probably damaging Het
Stat5b T G 11: 100,804,946 K70T probably benign Het
Tex44 A G 1: 86,427,743 D458G probably benign Het
Tut1 T A 19: 8,965,258 C570S probably benign Het
Usp42 T C 5: 143,715,346 E974G possibly damaging Het
Vezf1 A T 11: 88,076,327 Q310L probably benign Het
Vmn2r83 A T 10: 79,491,281 R574S probably benign Het
Zfp664 T C 5: 124,886,322 V260A 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
IGL02666:Abhd3 APN 18 10645148 missense probably benign 0.00
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