Incidental Mutation 'R8454:Hagh'
ID 654961
Institutional Source Beutler Lab
Gene Symbol Hagh
Ensembl Gene ENSMUSG00000024158
Gene Name hydroxyacyl glutathione hydrolase
Synonyms Glo-2, Glo2, Rsp29
MMRRC Submission 067831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R8454 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 25059117-25083424 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 25076536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 161 (S161*)
Ref Sequence ENSEMBL: ENSMUSP00000113051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024974] [ENSMUST00000118788] [ENSMUST00000130989] [ENSMUST00000149716] [ENSMUST00000154363] [ENSMUST00000164251] [ENSMUST00000169200]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000024974
AA Change: S112*
SMART Domains Protein: ENSMUSP00000024974
Gene: ENSMUSG00000024158
AA Change: S112*

DomainStartEndE-ValueType
Lactamase_B 11 173 2.61e-32 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118788
AA Change: S161*
SMART Domains Protein: ENSMUSP00000113051
Gene: ENSMUSG00000024158
AA Change: S161*

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 null
Transcript: ENSMUST00000130989
AA Change: S112*
SMART Domains Protein: ENSMUSP00000120734
Gene: ENSMUSG00000024158
AA Change: S112*

DomainStartEndE-ValueType
Lactamase_B 11 166 1.53e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000149716
AA Change: S112*
SMART Domains Protein: ENSMUSP00000114838
Gene: ENSMUSG00000024158
AA Change: S112*

DomainStartEndE-ValueType
Lactamase_B 11 132 1.22e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154363
SMART Domains Protein: ENSMUSP00000114672
Gene: ENSMUSG00000024158

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 null
Transcript: ENSMUST00000164251
AA Change: S112*
SMART Domains Protein: ENSMUSP00000129904
Gene: ENSMUSG00000024158
AA Change: S112*

DomainStartEndE-ValueType
Lactamase_B 11 173 2.61e-32 SMART
Predicted Effect probably null
Transcript: ENSMUST00000169200
AA Change: S89*
SMART Domains Protein: ENSMUSP00000126514
Gene: ENSMUSG00000024158
AA Change: S89*

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Lactamase_B 23 150 2.66e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,635,103 (GRCm39) G300V possibly damaging Het
Adgrg7 C G 16: 56,616,045 (GRCm39) probably benign Het
Agt G A 8: 125,290,842 (GRCm39) T155M probably benign Het
Atp8b3 A G 10: 80,361,633 (GRCm39) V763A probably benign Het
Btn1a1 C A 13: 23,648,420 (GRCm39) V138L probably benign Het
Cd163 A T 6: 124,305,924 (GRCm39) N1109I probably benign Het
Cideb T A 14: 55,992,598 (GRCm39) Q106L possibly damaging Het
Cntn1 A G 15: 92,130,130 (GRCm39) T126A probably benign Het
Dnai3 T C 3: 145,802,982 (GRCm39) K70E probably damaging Het
Elfn1 T C 5: 139,957,226 (GRCm39) Y77H probably damaging Het
Eml3 A G 19: 8,912,358 (GRCm39) H386R probably damaging Het
Fbxo21 A G 5: 118,133,479 (GRCm39) D413G probably damaging Het
Fkbp8 T A 8: 70,984,413 (GRCm39) probably null Het
Fzd1 T C 5: 4,807,336 (GRCm39) Q82R probably benign Het
Gast T C 11: 100,227,394 (GRCm39) L29P probably benign Het
Glb1l2 C A 9: 26,717,713 (GRCm39) probably benign Het
Gm1110 C G 9: 26,794,576 (GRCm39) Q483H probably benign Het
Gm1110 T A 9: 26,794,577 (GRCm39) Q483L probably benign Het
Gpc6 T C 14: 117,163,391 (GRCm39) L15P probably damaging Het
Hrh1 A G 6: 114,457,814 (GRCm39) D365G probably benign Het
Ighv1-36 A T 12: 114,843,560 (GRCm39) M100K probably damaging Het
Itgb8 A T 12: 119,134,513 (GRCm39) V518D probably benign Het
Krt82 T C 15: 101,450,238 (GRCm39) Y486C probably damaging Het
Lmbr1l A G 15: 98,810,357 (GRCm39) S85P probably damaging Het
Met A G 6: 17,491,768 (GRCm39) S177G probably damaging Het
Myl9 T A 2: 156,623,048 (GRCm39) I162N possibly damaging Het
Npat T A 9: 53,478,251 (GRCm39) N973K possibly damaging Het
Or5p68 A T 7: 107,945,889 (GRCm39) C100S probably damaging Het
Pcdhga12 A T 18: 37,901,190 (GRCm39) D674V possibly damaging Het
Phtf1 T A 3: 103,911,765 (GRCm39) N702K probably damaging Het
Plaa A T 4: 94,457,714 (GRCm39) I752N probably damaging Het
Pnpla2 T C 7: 141,038,011 (GRCm39) C194R probably damaging Het
Rnaseh2a T C 8: 85,691,776 (GRCm39) N133S probably benign Het
Rps6ka1 T A 4: 133,575,864 (GRCm39) Q685L probably benign Het
Ryr1 C A 7: 28,715,142 (GRCm39) G4661C unknown Het
Samd13 T A 3: 146,352,157 (GRCm39) M65L probably benign Het
Sdr42e2 T A 7: 120,430,403 (GRCm39) V420E possibly damaging Het
Sec22c A G 9: 121,524,721 (GRCm39) S21P probably damaging Het
Sh3d19 C A 3: 86,014,329 (GRCm39) T431K probably benign Het
Sin3b A G 8: 73,468,108 (GRCm39) M277V probably benign Het
Sis T C 3: 72,854,834 (GRCm39) T468A possibly damaging Het
Slitrk3 T C 3: 72,956,513 (GRCm39) N753S probably benign Het
Slitrk6 C A 14: 110,989,478 (GRCm39) L76F probably damaging Het
Stk3 C T 15: 34,876,870 (GRCm39) A478T probably damaging Het
Styxl2 A T 1: 165,935,702 (GRCm39) N165K probably damaging Het
Sugp1 C A 8: 70,524,247 (GRCm39) Y617* probably null Het
Tinag T C 9: 76,938,977 (GRCm39) D167G probably damaging Het
Tk2 A G 8: 104,967,746 (GRCm39) probably null Het
Tmem209 A T 6: 30,489,308 (GRCm39) V514D probably damaging Het
Tmprss9 A G 10: 80,723,320 (GRCm39) H260R probably benign Het
Tnfrsf14 T A 4: 155,011,112 (GRCm39) Y83F possibly damaging Het
Tnfrsf8 A T 4: 145,014,553 (GRCm39) D285E probably benign Het
Togaram2 C G 17: 72,004,873 (GRCm39) A310G probably benign Het
Trpv3 A G 11: 73,182,448 (GRCm39) Y544C probably damaging Het
Ttl T A 2: 128,908,104 (GRCm39) V13D probably damaging Het
Usp40 A T 1: 87,908,694 (GRCm39) D602E probably benign Het
Vamp5 A G 6: 72,347,376 (GRCm39) probably benign Het
Vmn2r65 T A 7: 84,589,402 (GRCm39) H838L possibly damaging Het
Vps35l T A 7: 118,391,795 (GRCm39) F493Y probably benign Het
Zfp960 T A 17: 17,308,461 (GRCm39) Y392N probably benign Het
Other mutations in Hagh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02224:Hagh APN 17 25,071,861 (GRCm39) missense probably damaging 1.00
IGL03410:Hagh APN 17 25,079,916 (GRCm39) splice site probably benign
R0616:Hagh UTSW 17 25,076,551 (GRCm39) missense probably damaging 1.00
R5688:Hagh UTSW 17 25,069,568 (GRCm39) start codon destroyed probably null
R6127:Hagh UTSW 17 25,079,978 (GRCm39) missense probably damaging 1.00
R7381:Hagh UTSW 17 25,075,686 (GRCm39) missense probably damaging 1.00
R7524:Hagh UTSW 17 25,080,314 (GRCm39) missense probably benign 0.00
R8354:Hagh UTSW 17 25,076,536 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTGCAGGTGTCTAGAATGCAG -3'
(R):5'- GCTAGATCTGACAGGAAAACCC -3'

Sequencing Primer
(F):5'- CAGGTGTCTAGAATGCAGATAGATCC -3'
(R):5'- GGAGTTTTCCTCACACAGCCAATG -3'
Posted On 2020-10-20