Incidental Mutation 'R0006:Ggh'
ID 43628
Institutional Source Beutler Lab
Gene Symbol Ggh
Ensembl Gene ENSMUSG00000073987
Gene Name gamma-glutamyl hydrolase
Synonyms gamma-GH
MMRRC Submission 041980-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R0006 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 20041963-20066111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20054155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 150 (T150K)
Ref Sequence ENSEMBL: ENSMUSP00000095843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098242]
AlphaFold Q9Z0L8
Predicted Effect possibly damaging
Transcript: ENSMUST00000098242
AA Change: T150K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095843
Gene: ENSMUSG00000073987
AA Change: T150K

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.3%
Validation Efficiency 97% (67/69)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,813,935 (GRCm39) probably benign Het
Aldh3a1 G A 11: 61,107,927 (GRCm39) V324M probably damaging Het
Als2cl T A 9: 110,723,686 (GRCm39) L694Q possibly damaging Het
Appl2 A G 10: 83,438,762 (GRCm39) F556L probably damaging Het
Atad2b T A 12: 4,992,030 (GRCm39) S210T possibly damaging Het
Aurka A G 2: 172,201,673 (GRCm39) probably null Het
Boc C T 16: 44,316,812 (GRCm39) V444I probably benign Het
Cfap61 G A 2: 145,919,232 (GRCm39) V655I probably benign Het
Chd8 A G 14: 52,472,750 (GRCm39) I351T possibly damaging Het
Chid1 T A 7: 141,076,339 (GRCm39) probably benign Het
Cyp3a41a T A 5: 145,641,606 (GRCm39) H288L probably benign Het
Dnase2b T A 3: 146,288,244 (GRCm39) I284F probably damaging Het
Dock2 A G 11: 34,262,453 (GRCm39) probably benign Het
Dst C T 1: 34,267,999 (GRCm39) T5325I probably benign Het
Erbb3 A G 10: 128,409,279 (GRCm39) probably null Het
Fancl A G 11: 26,419,695 (GRCm39) N316S possibly damaging Het
Farsa G T 8: 85,587,934 (GRCm39) probably benign Het
Fibcd1 T G 2: 31,728,599 (GRCm39) D86A probably damaging Het
Gab1 A T 8: 81,496,359 (GRCm39) M617K possibly damaging Het
Gabrd C A 4: 155,473,058 (GRCm39) V72L probably damaging Het
Gnb3 G A 6: 124,812,767 (GRCm39) probably benign Het
Hephl1 T A 9: 14,988,060 (GRCm39) T683S probably benign Het
Hmcn1 G A 1: 150,684,427 (GRCm39) P381L probably damaging Het
Hspa8 T G 9: 40,715,925 (GRCm39) N544K probably benign Het
Hspg2 C T 4: 137,247,242 (GRCm39) T1155I probably damaging Het
Igdcc4 C T 9: 65,042,382 (GRCm39) probably benign Het
Jazf1 A G 6: 52,871,071 (GRCm39) probably benign Het
Kntc1 T A 5: 123,927,201 (GRCm39) S1219T probably benign Het
L3mbtl1 A T 2: 162,806,489 (GRCm39) Y460F possibly damaging Het
Lcor A G 19: 41,573,338 (GRCm39) T698A probably benign Het
Lyrm7 T A 11: 54,739,423 (GRCm39) T76S probably benign Het
Map1b C T 13: 99,571,810 (GRCm39) V304M probably damaging Het
Mcub A C 3: 129,727,414 (GRCm39) probably benign Het
Muc13 T C 16: 33,623,518 (GRCm39) S271P probably damaging Het
Myo16 A G 8: 10,525,988 (GRCm39) K843E probably damaging Het
Nav2 A G 7: 49,102,978 (GRCm39) E531G possibly damaging Het
Niban3 A G 8: 72,057,688 (GRCm39) probably benign Het
Nup188 T C 2: 30,212,035 (GRCm39) V553A probably benign Het
Or1e16 A G 11: 73,286,314 (GRCm39) F178S probably damaging Het
Or1e1c A G 11: 73,266,414 (GRCm39) M283V possibly damaging Het
Or52d1 A G 7: 103,755,527 (GRCm39) I14V probably benign Het
Or6z1 A G 7: 6,504,610 (GRCm39) I205T possibly damaging Het
Or8b9 T A 9: 37,766,516 (GRCm39) V134D possibly damaging Het
P4ha3 C T 7: 99,968,155 (GRCm39) R378* probably null Het
Rap1gds1 G T 3: 138,689,632 (GRCm39) probably null Het
Rbfox1 T A 16: 7,148,284 (GRCm39) S244R probably benign Het
Rpp40 G A 13: 36,080,718 (GRCm39) P339S probably damaging Het
Rsph4a T C 10: 33,785,144 (GRCm39) C148R probably damaging Het
Skint5 T C 4: 113,751,059 (GRCm39) probably benign Het
Sptbn1 A G 11: 30,073,855 (GRCm39) S1405P probably damaging Het
Tex35 T C 1: 156,927,314 (GRCm39) K154E possibly damaging Het
Thada T C 17: 84,533,468 (GRCm39) N1661S probably benign Het
Tle4 A G 19: 14,444,078 (GRCm39) probably benign Het
Tnxb T C 17: 34,901,266 (GRCm39) S1027P probably benign Het
Tpm3 T A 3: 89,994,968 (GRCm39) probably benign Het
Ubr4 T C 4: 139,158,960 (GRCm39) F2438L probably benign Het
Uggt2 A T 14: 119,287,075 (GRCm39) F640L probably benign Het
Vmn1r20 T G 6: 57,409,290 (GRCm39) H205Q probably damaging Het
Wbp2 T C 11: 115,970,614 (GRCm39) probably null Het
Xirp1 T C 9: 119,846,520 (GRCm39) I788V probably benign Het
Zc3hav1 A G 6: 38,296,637 (GRCm39) probably null Het
Zfp687 A G 3: 94,918,767 (GRCm39) I335T probably damaging Het
Zfpm1 A G 8: 123,061,227 (GRCm39) Y264C probably damaging 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
R1539:Ggh UTSW 4 20,054,204 (GRCm39) critical splice donor site probably null
R4532:Ggh UTSW 4 20,046,225 (GRCm39) missense probably benign
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'- GACATAGTGTGCCCACAACTCTCC -3'
(R):5'- CTCAGAAAGCATTCCCAGCGGTAG -3'

Sequencing Primer
(F):5'- tctgtctctctctctgtctctc -3'
(R):5'- CCCAGCGGTAGAAACTTTTATAGTG -3'
Posted On 2013-05-29