Incidental Mutation 'IGL02224:Hagh'
ID285270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hagh
Ensembl Gene ENSMUSG00000024158
Gene Namehydroxyacyl glutathione hydrolase
SynonymsRsp29, Glo-2, Glo2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.220) question?
Stock #IGL02224
Quality Score
Status
Chromosome17
Chromosomal Location24840143-24864450 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24852887 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 29 (D29G)
Ref Sequence ENSEMBL: ENSMUSP00000129904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024974] [ENSMUST00000049642] [ENSMUST00000118788] [ENSMUST00000130989] [ENSMUST00000149716] [ENSMUST00000154363] [ENSMUST00000164251] [ENSMUST00000169200]
Predicted Effect probably damaging
Transcript: ENSMUST00000024974
AA Change: D29G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024974
Gene: ENSMUSG00000024158
AA Change: D29G

DomainStartEndE-ValueType
Lactamase_B 11 173 2.61e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049642
SMART Domains Protein: ENSMUSP00000055827
Gene: ENSMUSG00000045316

DomainStartEndE-ValueType
Pfam:FAA_hydrolase 22 223 4e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118788
AA Change: D78G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113051
Gene: ENSMUSG00000024158
AA Change: D78G

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
low complexity region 24 34 N/A INTRINSIC
Lactamase_B 60 222 2.61e-32 SMART
Pfam:HAGH_C 223 304 5.1e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130989
AA Change: D29G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120734
Gene: ENSMUSG00000024158
AA Change: D29G

DomainStartEndE-ValueType
Lactamase_B 11 166 1.53e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000149716
AA Change: D29G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114838
Gene: ENSMUSG00000024158
AA Change: D29G

DomainStartEndE-ValueType
Lactamase_B 11 132 1.22e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154363
AA Change: D78G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114672
Gene: ENSMUSG00000024158
AA Change: D78G

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
low complexity region 24 34 N/A INTRINSIC
Pfam:Lactamase_B 56 106 1.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164251
AA Change: D29G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129904
Gene: ENSMUSG00000024158
AA Change: D29G

DomainStartEndE-ValueType
Lactamase_B 11 173 2.61e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169200
SMART Domains Protein: ENSMUSP00000126514
Gene: ENSMUSG00000024158

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Lactamase_B 23 150 2.66e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,279,290 T23S probably damaging Het
Alpk3 G A 7: 81,076,868 probably benign Het
Atp8b3 A G 10: 80,525,976 probably benign Het
Atr C T 9: 95,878,629 R1051C probably damaging Het
B4galt2 T C 4: 117,876,913 D309G probably benign Het
C130026L21Rik A G 5: 111,582,425 noncoding transcript Het
Cadm3 A G 1: 173,338,061 I344T possibly damaging Het
Cd101 T C 3: 101,017,002 T370A probably benign Het
Col6a5 A T 9: 105,864,335 S2462T probably damaging Het
Csf3r A T 4: 126,043,539 N739Y probably benign Het
Ensa T C 3: 95,628,679 S108P probably benign Het
Fancd2 T A 6: 113,568,320 probably null Het
Fbp1 T A 13: 62,888,007 T13S probably damaging Het
Flrt2 C A 12: 95,780,028 T380K possibly damaging Het
Gpatch11 T C 17: 78,841,093 probably benign Het
Hmmr T C 11: 40,710,004 Q513R unknown Het
Hoxb8 T C 11: 96,283,155 S65P probably benign Het
Il4ra T C 7: 125,570,099 probably benign Het
Lbp A G 2: 158,306,749 N27S probably damaging Het
Msh4 G A 3: 153,890,185 T76I possibly damaging Het
Nfat5 T C 8: 107,344,815 V281A probably benign Het
Olfr1115 C T 2: 87,252,477 S180F probably benign Het
Olfr1140 T A 2: 87,746,413 C72* probably null Het
Olfr1181 C T 2: 88,423,708 probably null Het
Olfr1459 T A 19: 13,145,756 K301M probably damaging Het
Olfr272 A T 4: 52,911,392 V134D probably damaging Het
Phf11b A T 14: 59,326,066 probably benign Het
Pik3c2a A G 7: 116,363,340 probably benign Het
Prdx1 T A 4: 116,691,867 F66L probably damaging Het
Prss39 A G 1: 34,499,378 H108R probably damaging Het
Spta1 C A 1: 174,217,689 probably benign Het
Tmem87b A G 2: 128,834,207 I297V possibly damaging Het
Vmn1r191 T C 13: 22,178,898 R229G probably damaging Het
Vmn2r113 A T 17: 22,955,986 R524* probably null Het
Washc2 T A 6: 116,220,569 D254E possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp773 T C 7: 7,132,976 H207R probably benign Het
Other mutations in Hagh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03410:Hagh APN 17 24860942 splice site probably benign
R0616:Hagh UTSW 17 24857577 missense probably damaging 1.00
R5688:Hagh UTSW 17 24850594 start codon destroyed probably null
R6127:Hagh UTSW 17 24861004 missense probably damaging 1.00
R7381:Hagh UTSW 17 24856712 missense probably damaging 1.00
R7524:Hagh UTSW 17 24861340 missense probably benign 0.00
R8354:Hagh UTSW 17 24857562 nonsense probably null
R8454:Hagh UTSW 17 24857562 nonsense probably null
Posted On2015-04-16