Incidental Mutation 'R4543:Abhd3'
ID 392060
Institutional Source Beutler Lab
Gene Symbol Abhd3
Ensembl Gene ENSMUSG00000002475
Gene Name abhydrolase domain containing 3
Synonyms LABH3
MMRRC Submission 041778-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.630) question?
Stock # R4543 (G1)
Quality Score 67
Status Validated
Chromosome 18
Chromosomal Location 10644411-10706784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10706672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2 (D2G)
Ref Sequence ENSEMBL: ENSMUSP00000112768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002549] [ENSMUST00000117726] [ENSMUST00000117828]
AlphaFold Q91ZH7
Predicted Effect possibly damaging
Transcript: ENSMUST00000002549
AA Change: D7G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002549
Gene: ENSMUSG00000002475
AA Change: D7G

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 possibly damaging
Transcript: ENSMUST00000117726
AA Change: D2G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112768
Gene: ENSMUSG00000002475
AA Change: D2G

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 possibly damaging
Transcript: ENSMUST00000117828
AA Change: D2G

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113137
Gene: ENSMUSG00000002475
AA Change: D2G

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 noncoding transcript
Transcript: ENSMUST00000180948
Meta Mutation Damage Score 0.0772 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 94% (44/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,789,749 (GRCm39) S500T probably damaging Het
Ablim1 C T 19: 57,065,874 (GRCm39) R366H possibly damaging Het
Adgre1 T A 17: 57,713,874 (GRCm39) H186Q probably benign Het
Ankmy1 G T 1: 92,812,572 (GRCm39) A579E probably damaging Het
Ap2b1 C A 11: 83,215,476 (GRCm39) T140K probably damaging Het
Arhgef28 T A 13: 98,211,508 (GRCm39) E158D probably benign Het
Atp8b4 A G 2: 126,199,986 (GRCm39) F885L probably damaging Het
Barx2 A G 9: 31,758,092 (GRCm39) L282S unknown Het
Catsper2 C T 2: 121,237,890 (GRCm39) W163* probably null Het
Cep295 T C 9: 15,246,549 (GRCm39) T588A possibly damaging Het
Chil3 T G 3: 106,067,686 (GRCm39) K160Q probably benign Het
Clca3a1 T A 3: 144,452,749 (GRCm39) Q578L probably damaging Het
Crp A C 1: 172,526,304 (GRCm39) I130L probably benign Het
Dtwd2 C A 18: 49,857,175 (GRCm39) probably null Het
Fads3 T C 19: 10,019,175 (GRCm39) F27S possibly damaging Het
Gm3604 T C 13: 62,517,970 (GRCm39) D109G probably benign Het
Gtf2ird1 A G 5: 134,392,754 (GRCm39) probably null Het
H2-K2 C T 17: 34,218,532 (GRCm39) probably null Het
Hdac5 T C 11: 102,104,770 (GRCm39) probably benign Het
Il6st G A 13: 112,617,993 (GRCm39) V136M probably damaging Het
Immt T C 6: 71,828,762 (GRCm39) S106P probably damaging Het
Kat2b T C 17: 53,960,168 (GRCm39) I492T probably benign Het
Kcnn2 T C 18: 45,692,715 (GRCm39) F97S probably benign Het
Kdm4c A G 4: 74,248,997 (GRCm39) I84V probably benign Het
Kif7 G A 7: 79,357,296 (GRCm39) P637S probably benign Het
Lrrcc1 T A 3: 14,604,851 (GRCm39) I109K probably damaging Het
Med12l T A 3: 58,998,929 (GRCm39) C619S probably damaging Het
Mgat4f T A 1: 134,317,531 (GRCm39) M101K probably benign Het
Or8g51 A G 9: 38,608,841 (GRCm39) S274P possibly damaging Het
Polq T C 16: 36,881,147 (GRCm39) C1104R probably benign Het
Rbfox2 A T 15: 77,190,568 (GRCm39) M59K probably benign Het
Rft1 T C 14: 30,383,290 (GRCm39) V110A probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,129 (GRCm39) probably benign Het
Slc2a12 T A 10: 22,540,685 (GRCm39) V180D probably damaging Het
Sox21 CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC CCAGCGGCGGCGGCGGCAGCGGC 14: 118,472,548 (GRCm39) probably benign Het
Stap2 C T 17: 56,304,604 (GRCm39) probably null Het
Tenm4 A G 7: 96,545,022 (GRCm39) N2375S probably benign Het
Tmem132c A G 5: 127,582,041 (GRCm39) T419A probably benign Het
Tmprss11a G A 5: 86,559,668 (GRCm39) Q375* probably null Het
Trav12-3 CTCTG CTCTGTCTG 14: 53,859,693 (GRCm39) probably null Het
Vmn1r88 T A 7: 12,911,907 (GRCm39) S88T possibly damaging Het
Zfp622 T A 15: 25,991,623 (GRCm39) D143E possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCCCGAAGTACTGCAGCTG -3'
(R):5'- TAATTCAAGGTCAAGTGGCGG -3'

Sequencing Primer
(F):5'- GCAGGACCTTGAACCTCAG -3'
(R):5'- TGGCTCTGAAGGGACACTG -3'
Posted On 2016-06-09