Incidental Mutation 'R4532:Ggh'
ID 333135
Institutional Source Beutler Lab
Gene Symbol Ggh
Ensembl Gene ENSMUSG00000073987
Gene Name gamma-glutamyl hydrolase
Synonyms gamma-GH
MMRRC Submission 041772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R4532 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 20041963-20066111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20046225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 44 (F44L)
Ref Sequence ENSEMBL: ENSMUSP00000095843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098242]
AlphaFold Q9Z0L8
Predicted Effect probably benign
Transcript: ENSMUST00000098242
AA Change: F44L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095843
Gene: ENSMUSG00000073987
AA Change: F44L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Peptidase_C26 34 245 4.9e-25 PFAM
Pfam:GATase 50 253 2.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180742
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Aoc1l1 A G 6: 48,955,101 (GRCm39) E647G possibly damaging Het
Ap3b1 A G 13: 94,702,243 (GRCm39) K1099E unknown Het
Arhgap42 T C 9: 9,011,433 (GRCm39) D451G probably damaging Het
Cd19 C T 7: 126,011,281 (GRCm39) C301Y probably damaging Het
Cdh23 T C 10: 60,370,202 (GRCm39) T198A probably benign Het
Cdt1 T C 8: 123,298,495 (GRCm39) S407P probably benign Het
Cyp26c1 A G 19: 37,674,227 (GRCm39) T34A probably damaging Het
Dbh C A 2: 27,067,343 (GRCm39) H409Q possibly damaging Het
Eif5 T A 12: 111,506,318 (GRCm39) C52* probably null Het
Fhod3 A G 18: 25,243,278 (GRCm39) Y1212C probably damaging Het
Gm12185 T C 11: 48,798,747 (GRCm39) Y582C probably damaging Het
Gm12185 T C 11: 48,798,921 (GRCm39) N524S possibly damaging Het
Gm21095 A G Y: 84,131,953 (GRCm39) N149S probably damaging Het
Gys2 T A 6: 142,400,867 (GRCm39) H311L probably damaging Het
Hcn4 C T 9: 58,765,081 (GRCm39) R558C unknown Het
Heatr6 T C 11: 83,660,498 (GRCm39) L546P probably damaging Het
Lin54 G A 5: 100,594,419 (GRCm39) T582I possibly damaging Het
Lpin1 C T 12: 16,603,963 (GRCm39) G623S probably benign Het
Lrfn2 A G 17: 49,377,564 (GRCm39) D215G probably damaging Het
Lrrc3c C A 11: 98,489,859 (GRCm39) S72* probably null Het
Me3 G A 7: 89,282,108 (GRCm39) probably benign Het
Msln A G 17: 25,969,698 (GRCm39) I344T probably damaging Het
Oma1 G A 4: 103,176,571 (GRCm39) V112I probably benign Het
Or5al6 A T 2: 85,976,274 (GRCm39) L268Q possibly damaging Het
Or5p4 T C 7: 107,680,756 (GRCm39) Y252H probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pdgfra A G 5: 75,341,744 (GRCm39) N659S probably damaging Het
Rmnd5a A T 6: 71,376,109 (GRCm39) probably null Het
Slc12a8 C A 16: 33,371,403 (GRCm39) R180S probably damaging Het
Slc6a15 G A 10: 103,245,648 (GRCm39) V544M possibly damaging Het
Slco5a1 T A 1: 12,949,447 (GRCm39) T648S probably damaging Het
Snx13 T C 12: 35,194,219 (GRCm39) F921L probably damaging Het
Stard6 A C 18: 70,616,605 (GRCm39) D88A probably damaging Het
Svep1 G T 4: 58,068,886 (GRCm39) H2967N possibly damaging Het
Tcaf2 A C 6: 42,603,371 (GRCm39) Y730D probably damaging Het
Tes G A 6: 17,097,407 (GRCm39) V172M possibly damaging Het
Ttc3 T A 16: 94,267,736 (GRCm39) probably benign Het
Vmn1r23 A G 6: 57,902,914 (GRCm39) I288T probably benign Het
Vmn1r38 G T 6: 66,754,016 (GRCm39) H33Q probably benign Het
Vmn2r75 G T 7: 85,797,349 (GRCm39) C821* probably null Het
Zfp282 C T 6: 47,867,567 (GRCm39) P248S probably benign Het
Zfp655 T A 5: 145,181,507 (GRCm39) I455N probably benign Het
Other mutations in Ggh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Ggh APN 4 20,057,965 (GRCm39) missense probably benign 0.02
IGL03057:Ggh APN 4 20,065,770 (GRCm39) missense probably benign 0.00
R0006:Ggh UTSW 4 20,054,155 (GRCm39) missense possibly damaging 0.95
R1539:Ggh UTSW 4 20,054,204 (GRCm39) critical splice donor site probably null
R6431:Ggh UTSW 4 20,042,219 (GRCm39) missense unknown
R7538:Ggh UTSW 4 20,049,833 (GRCm39) missense probably damaging 0.98
R7539:Ggh UTSW 4 20,049,833 (GRCm39) missense probably damaging 0.98
R7594:Ggh UTSW 4 20,049,833 (GRCm39) missense probably damaging 0.98
R7595:Ggh UTSW 4 20,049,833 (GRCm39) missense probably damaging 0.98
R9119:Ggh UTSW 4 20,057,955 (GRCm39) missense probably damaging 1.00
V7732:Ggh UTSW 4 20,046,225 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAATACTTTCCCAACAACTGTGG -3'
(R):5'- GCAGGCAATAGGTTTGTGGC -3'

Sequencing Primer
(F):5'- TCCCAACAACTGTGGGTAAACTTG -3'
(R):5'- GTTTGTGGCTGAAATCAGATGCAAC -3'
Posted On 2015-08-18