Incidental Mutation 'R9232:Abhd3'
ID 700322
Institutional Source Beutler Lab
Gene Symbol Abhd3
Ensembl Gene ENSMUSG00000002475
Gene Name abhydrolase domain containing 3
Synonyms LABH3
MMRRC Submission 068986-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.638) question?
Stock # R9232 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 10644411-10706784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10652198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 278 (S278T)
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: S278T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000002549
Gene: ENSMUSG00000002475
AA Change: S278T

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: S273T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112768
Gene: ENSMUSG00000002475
AA Change: S273T

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: S273T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113137
Gene: ENSMUSG00000002475
AA Change: S273T

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
AA Change: S58T

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116037
Gene: ENSMUSG00000002475
AA Change: S58T

DomainStartEndE-ValueType
low complexity region 1 8 N/A INTRINSIC
SCOP:d1ibja_ 121 158 3e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (53/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T C 17: 43,621,295 (GRCm39) Y511H probably benign Het
Atp5pd A G 11: 115,309,221 (GRCm39) F38S probably benign Het
Cdc6 T G 11: 98,801,201 (GRCm39) S151A probably benign Het
Ceacam12 T A 7: 17,803,341 (GRCm39) M249K probably benign Het
Cenpt T C 8: 106,571,793 (GRCm39) Q446R probably damaging Het
Cnnm1 T A 19: 43,480,325 (GRCm39) S883T probably benign Het
Cntn6 T C 6: 104,815,781 (GRCm39) W721R probably damaging Het
Defb43 A G 14: 63,255,281 (GRCm39) K38R probably damaging Het
Eif2a T C 3: 58,463,022 (GRCm39) S522P probably benign Het
Erap1 T G 13: 74,811,637 (GRCm39) S332R probably benign Het
Foxa3 C A 7: 18,748,790 (GRCm39) R112L probably damaging Het
Foxf1 T A 8: 121,811,715 (GRCm39) M193K possibly damaging Het
Gbp11 T C 5: 105,476,290 (GRCm39) Y273C possibly damaging Het
Gli2 T A 1: 118,764,021 (GRCm39) T1377S probably benign Het
Gm10271 T A 10: 116,808,479 (GRCm39) L12F probably damaging Het
Grm5 G A 7: 87,723,591 (GRCm39) G627D probably damaging Het
Gtf3c4 A G 2: 28,724,848 (GRCm39) S295P probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Igsf10 G A 3: 59,243,843 (GRCm39) R164W probably damaging Het
Iqch T A 9: 63,329,200 (GRCm39) M1045L probably benign Het
Kcnt2 T C 1: 140,411,931 (GRCm39) S455P possibly damaging Het
Kif26b G A 1: 178,742,511 (GRCm39) G869E probably damaging Het
Kit A G 5: 75,799,792 (GRCm39) N508S probably benign Het
Lgals8 C T 13: 12,469,777 (GRCm39) V61M probably damaging Het
Lztr1 T C 16: 17,339,343 (GRCm39) V392A possibly damaging Het
Mad1l1 T A 5: 140,091,296 (GRCm39) M524L probably benign Het
Mob3b T C 4: 34,986,101 (GRCm39) N146D probably benign Het
Muc16 T C 9: 18,567,336 (GRCm39) T1728A unknown Het
Nlgn2 T C 11: 69,718,855 (GRCm39) H278R probably damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Plce1 A G 19: 38,705,423 (GRCm39) M943V probably benign Het
Pramel25 T G 4: 143,520,263 (GRCm39) L169R probably benign Het
Proser2 A G 2: 6,106,015 (GRCm39) L183P probably benign Het
Prss36 T C 7: 127,543,988 (GRCm39) I128V probably benign Het
Rabggta C T 14: 55,956,745 (GRCm39) V320I probably benign Het
Sepsecs A G 5: 52,823,344 (GRCm39) V125A probably benign Het
Sik3 C T 9: 46,123,216 (GRCm39) P1005L probably benign Het
Slc22a20 A T 19: 6,023,009 (GRCm39) I378N possibly damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Tap1 T C 17: 34,412,277 (GRCm39) V494A probably benign Het
Tg A G 15: 66,570,310 (GRCm39) D1394G probably benign Het
Tgfbr3 T C 5: 107,290,361 (GRCm39) T315A possibly damaging Het
Tmc2 A G 2: 130,085,049 (GRCm39) T559A probably damaging Het
Tph1 A G 7: 46,311,529 (GRCm39) I71T probably benign Het
Trib3 A T 2: 152,184,962 (GRCm39) C96S probably damaging Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Trim56 A G 5: 137,141,632 (GRCm39) V628A probably damaging Het
Ttc6 A G 12: 57,776,210 (GRCm39) Y1718C probably damaging Het
Tuft1 T C 3: 94,529,445 (GRCm39) Q244R probably benign Het
Unc13b A G 4: 43,240,321 (GRCm39) T793A probably benign Het
Vmn1r39 A G 6: 66,781,580 (GRCm39) I246T possibly damaging Het
Xpo1 T C 11: 23,232,646 (GRCm39) S389P probably benign Het
Zdbf2 T C 1: 63,347,168 (GRCm39) F1849S 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
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
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'- TTGGTAGGCATTCATAATTTGGAGA -3'
(R):5'- GCAGTCACAGTCTCCTTTCT -3'

Sequencing Primer
(F):5'- CATAGAGGTTAGGTATCTGCCCAGC -3'
(R):5'- TCCCTATTTTAGAATGCTGCTTCTG -3'
Posted On 2022-02-07