Mutagenetix > Incidental Mutation

Incidental Mutation 'R9119:Ggh'

692670

Institutional Source

Beutler Lab

Gene Symbol

Ggh

Ensembl Gene

ENSMUSG00000073987

Gene Name

gamma-glutamyl hydrolase

Synonyms

gamma-GH

MMRRC Submission

068922-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R9119 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20041963-20066111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20057955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 172 (M172K)

Ref Sequence

ENSEMBL: ENSMUSP00000095843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098242]

AlphaFold

Q9Z0L8

Predicted Effect

probably damaging
Transcript: ENSMUST00000098242
AA Change: M172K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095843
Gene: ENSMUSG00000073987
AA Change: M172K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Peptidase_C26	34	245	4.9e-25	PFAM
Pfam:GATase	50	253	2.2e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (42/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Aass	A	T	6: 23,094,000 (GRCm39)	M517K	probably benign	Het
Abcc4	A	G	14: 118,868,442 (GRCm39)	V245A	probably benign	Het
Adgrv1	A	G	13: 81,658,995 (GRCm39)	V2783A	probably damaging	Het
Anxa3	T	A	5: 96,976,557 (GRCm39)	I181N		Het
Ap4m1	T	A	5: 138,174,303 (GRCm39)		probably benign	Het
C1ql1	T	A	11: 102,836,879 (GRCm39)	K137*	probably null	Het
Camkmt	T	A	17: 85,403,988 (GRCm39)	L70Q	probably damaging	Het
Ceacam18	T	C	7: 43,288,909 (GRCm39)	L220P	probably benign	Het
Celsr2	C	T	3: 108,309,288 (GRCm39)	A1656T	possibly damaging	Het
Dnah6	T	C	6: 73,037,186 (GRCm39)	N3352S	possibly damaging	Het
Fbxo40	C	A	16: 36,786,457 (GRCm39)	R704L	probably damaging	Het
Fcho1	C	T	8: 72,164,712 (GRCm39)	G523E	possibly damaging	Het
Gas2l3	T	C	10: 89,249,319 (GRCm39)	T600A	possibly damaging	Het
Gpr137	G	A	19: 6,915,811 (GRCm39)	T373I	probably benign	Het
Kpna2rt	T	C	17: 90,217,621 (GRCm39)	K42E	probably damaging	Het
Mtnr1a	G	A	8: 45,541,003 (GRCm39)	M321I	probably benign	Het
Nebl	T	G	2: 17,405,370 (GRCm39)	N383T	probably damaging	Het
Nob1	A	G	8: 108,142,776 (GRCm39)	S302P	probably damaging	Het
Ofcc1	A	T	13: 40,334,016 (GRCm39)	H358Q	probably benign	Het
Or6b3	G	T	1: 92,438,904 (GRCm39)	T282K	probably damaging	Het
Pkd1l1	G	A	11: 8,829,107 (GRCm39)	T1495I		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb4	G	A	2: 135,809,872 (GRCm39)	E609K	probably damaging	Het
Plxnd1	A	T	6: 115,932,832 (GRCm39)		probably benign	Het
Prdm2	G	A	4: 142,858,449 (GRCm39)	Q1614*	probably null	Het
Psg21	T	G	7: 18,381,409 (GRCm39)	K378T	probably benign	Het
Ptprh	T	A	7: 4,555,712 (GRCm39)	N749I	probably benign	Het
Ric8b	T	G	10: 84,783,334 (GRCm39)	V64G	possibly damaging	Het
Sbf2	T	C	7: 109,911,292 (GRCm39)	T1793A	possibly damaging	Het
Scgb1c1	A	G	7: 140,426,135 (GRCm39)	H77R	probably null	Het
Sfswap	C	A	5: 129,591,829 (GRCm39)	T282N	probably benign	Het
Sorcs3	A	T	19: 48,642,433 (GRCm39)	Y362F	possibly damaging	Het
Spata31h1	T	C	10: 82,131,553 (GRCm39)	T486A	probably benign	Het
Tpm4	A	G	8: 72,892,525 (GRCm39)	N76D	probably benign	Het
Tpr	T	A	1: 150,279,753 (GRCm39)	L294Q	probably damaging	Het
Ttc3	C	T	16: 94,192,950 (GRCm39)	T237I	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ugt2a2	A	G	5: 87,610,834 (GRCm39)	V334A	probably damaging	Het
Usp38	A	T	8: 81,711,228 (GRCm39)	F936I	probably damaging	Het
Utp14b	A	G	1: 78,643,025 (GRCm39)	K308E	probably damaging	Het
Vmn2r19	C	T	6: 123,292,527 (GRCm39)	P190S	possibly damaging	Het
Zbbx	T	C	3: 74,985,897 (GRCm39)	E385G	probably damaging	Het

Other mutations in Ggh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
V7732:Ggh	UTSW	4	20,046,225 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGAAGCCAGTGGAGATATGC -3'
(R):5'- ATGAACTCAGTTTTGCCATCTG -3'

Sequencing Primer
(F):5'- CAGTGGAGATATGCTTTGCCCC -3'
(R):5'- AACTCAGTTTTGCCATCTGTATTGG -3'

Posted On

2021-12-30