Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:Ggt1'

47490

Institutional Source

Beutler Lab

Gene Symbol

Ggt1

Ensembl Gene

ENSMUSG00000006345

Gene Name

gamma-glutamyltransferase 1

Synonyms

Ggtp, dwg, GGT, CD224

MMRRC Submission

038700-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R0505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75397438-75422034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75421791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 546 (V546G)

Ref Sequence

ENSEMBL: ENSMUSP00000121312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006508] [ENSMUST00000072217] [ENSMUST00000134503] [ENSMUST00000189972] [ENSMUST00000218807]

AlphaFold

Q60928

Predicted Effect

probably damaging
Transcript: ENSMUST00000006508
AA Change: V546G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: V546G

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	563	4.9e-179	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000044101

Predicted Effect

probably benign
Transcript: ENSMUST00000072217

SMART Domains

Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:G_glu_transpept	58	568	1.6e-164	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129020

SMART Domains

Protein: ENSMUSP00000118825
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
Pfam:G_glu_transpept	1	263	3.3e-88	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000134503
AA Change: V546G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: V546G

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	563	1.4e-184	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148447

Predicted Effect

probably benign
Transcript: ENSMUST00000155186

SMART Domains

Protein: ENSMUSP00000123017
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
Pfam:G_glu_transpept	1	128	6.3e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156487

Predicted Effect

probably benign
Transcript: ENSMUST00000189972

SMART Domains

Protein: ENSMUSP00000139459
Gene: ENSMUSG00000006344

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219214

Predicted Effect

probably benign
Transcript: ENSMUST00000218807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219247

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

MGI Phenotype

FUNCTION: This gene encodes gamma-glutamyl transpeptidase, a plasmamembrane-associated enzyme that cleaves the peptide bond between gamma-glutamyl and cysteinyl glycine moieties of glutathione. The encoded protein is autocatalytically processed to generate an enzymatically active heterodimer comprised of heavy and light chains. Mice lacking the encoded protein grow slowly, develop cataracts and have elevated levels of glutathione in plasma and urine. Transgenic overexpression of the encoded protein in mice enhances osteoclastic bone resorption. The mutant alleles termed 'Dwarf grey' and 'Dwarf grey Bayer' in mice are associated with deletions in this gene. A gamma-glutamyl transpeptidase paralog is located adjacent to this gene. Alternative splicing results in multiple transcript variants. Additional transcripts using alternate promoters and differing in 5' UTRs have been described. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutants may exhibit impaired growth, skeletal abnormalities, cataracts, lethargic behavior, premature greying, sterility, and shortened life span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,241,058 (GRCm39)	Y974H	probably benign	Het
Abca2	G	T	2: 25,324,906 (GRCm39)	G300V	probably benign	Het
Abi1	A	G	2: 22,852,516 (GRCm39)		probably benign	Het
Actr10	T	A	12: 71,006,738 (GRCm39)	Y332N	probably damaging	Het
Adam25	G	T	8: 41,208,261 (GRCm39)	C509F	probably damaging	Het
Adck1	A	T	12: 88,338,461 (GRCm39)		probably benign	Het
Adgra3	A	G	5: 50,166,676 (GRCm39)		probably null	Het
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Akr1c21	A	G	13: 4,626,306 (GRCm39)	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,019,566 (GRCm39)	I463V	probably null	Het
Atp6v1e2	C	T	17: 87,252,006 (GRCm39)	V131M	probably benign	Het
Bdnf	A	G	2: 109,505,688 (GRCm39)		probably null	Het
Bltp3b	T	C	10: 89,627,305 (GRCm39)	S145P	probably damaging	Het
C7	A	T	15: 5,023,624 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,419,114 (GRCm39)	T273A	probably benign	Het
Cdo1	T	A	18: 46,848,678 (GRCm39)	I187F	probably benign	Het
Cep104	A	T	4: 154,080,761 (GRCm39)	T742S	probably benign	Het
Ckm	A	T	7: 19,153,377 (GRCm39)	K223*	probably null	Het
Cmtr1	C	T	17: 29,895,259 (GRCm39)	P586L	probably benign	Het
Csmd1	C	T	8: 16,042,758 (GRCm39)	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,328,400 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,070,245 (GRCm39)	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Ebf2	A	T	14: 67,609,185 (GRCm39)	K199*	probably null	Het
Eeig2	T	C	3: 108,887,520 (GRCm39)	E248G	probably benign	Het
Efcab11	T	A	12: 99,685,294 (GRCm39)	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,261,517 (GRCm39)	S686T	probably benign	Het
Epha6	C	T	16: 60,026,095 (GRCm39)	S449N	possibly damaging	Het
Ercc4	T	C	16: 12,944,331 (GRCm39)	V329A	probably benign	Het
Faf1	T	C	4: 109,697,600 (GRCm39)	F309L	possibly damaging	Het
G6pd2	C	A	5: 61,966,910 (GRCm39)	D228E	probably benign	Het
Gpatch4	G	T	3: 87,958,524 (GRCm39)	V3F	probably damaging	Het
Gprin3	A	G	6: 59,330,372 (GRCm39)	L645P	probably damaging	Het
Hyal2	A	G	9: 107,449,270 (GRCm39)	Y342C	probably benign	Het
Igf2bp2	A	G	16: 21,907,849 (GRCm39)	I16T	possibly damaging	Het
Inca1	T	C	11: 70,581,025 (GRCm39)	Y61C	probably damaging	Het
Ipo5	T	C	14: 121,180,145 (GRCm39)	W860R	possibly damaging	Het
Kcnj9	C	T	1: 172,150,591 (GRCm39)	A341T	probably benign	Het
Kdm5b	T	C	1: 134,530,309 (GRCm39)	V440A	probably damaging	Het
L3mbtl1	C	T	2: 162,789,255 (GRCm39)		probably benign	Het
Lin54	G	A	5: 100,600,152 (GRCm39)	T307I	probably damaging	Het
Lrrc18	C	A	14: 32,731,096 (GRCm39)	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,393,851 (GRCm39)	S525P	probably benign	Het
Lrrc71	T	A	3: 87,653,006 (GRCm39)	S137C	probably damaging	Het
Lrrk1	A	T	7: 65,940,656 (GRCm39)		probably null	Het
Man2b2	G	A	5: 36,973,542 (GRCm39)	S58L	probably benign	Het
Masp1	T	A	16: 23,276,888 (GRCm39)	H539L	probably benign	Het
Med1	G	A	11: 98,047,730 (GRCm39)	P1022L	probably damaging	Het
Meis1	T	A	11: 18,961,360 (GRCm39)	H171L	probably damaging	Het
Mier1	T	A	4: 103,012,820 (GRCm39)		probably benign	Het
Mmp13	A	T	9: 7,272,929 (GRCm39)	R96S	probably damaging	Het
Mms19	G	A	19: 41,942,173 (GRCm39)	T38I	probably damaging	Het
Mrc1	G	A	2: 14,314,843 (GRCm39)	C976Y	probably damaging	Het
Mrtfb	C	T	16: 13,230,390 (GRCm39)	T1025I	possibly damaging	Het
Naalad2	A	G	9: 18,297,191 (GRCm39)	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,183,085 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Nwd2	T	A	5: 63,962,454 (GRCm39)	D679E	probably damaging	Het
Ogdh	T	A	11: 6,289,936 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,916,330 (GRCm39)	S421T	possibly damaging	Het
Opn5	T	G	17: 42,903,844 (GRCm39)	T164P	possibly damaging	Het
Or4k37	A	T	2: 111,159,673 (GRCm39)	N303I	probably benign	Het
Or51a25	T	A	7: 102,373,236 (GRCm39)	I154F	probably damaging	Het
Or52a24	T	C	7: 103,381,583 (GRCm39)	V150A	probably benign	Het
Or5ak20	A	G	2: 85,184,093 (GRCm39)	M59T	possibly damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Pde7b	C	T	10: 20,314,492 (GRCm39)	V166M	probably damaging	Het
Peds1	A	T	2: 167,486,907 (GRCm39)		probably benign	Het
Pik3ap1	T	C	19: 41,313,003 (GRCm39)	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,814 (GRCm39)	D3913V	probably damaging	Het
Pld1	A	G	3: 28,174,971 (GRCm39)	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,326,656 (GRCm39)	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,179,054 (GRCm39)	M987K	probably benign	Het
Pmch	A	G	10: 87,927,221 (GRCm39)	N75D	probably benign	Het
Prom2	T	A	2: 127,374,787 (GRCm39)	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,299,288 (GRCm39)	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,293,569 (GRCm39)	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,516,789 (GRCm39)	T349S	probably benign	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rif1	C	A	2: 52,000,749 (GRCm39)	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,328,055 (GRCm39)		probably benign	Het
Rpn1	T	A	6: 88,067,224 (GRCm39)	S195T	probably benign	Het
Rslcan18	C	A	13: 67,250,183 (GRCm39)	K17N	probably benign	Het
Rsph3b	A	T	17: 7,209,126 (GRCm39)	I48N	probably damaging	Het
Sbf2	A	T	7: 109,998,550 (GRCm39)	Y628N	probably damaging	Het
Sis	T	C	3: 72,867,629 (GRCm39)	T139A	probably benign	Het
Slc22a14	A	G	9: 119,001,100 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,732,900 (GRCm39)	T372A	probably damaging	Het
Spidr	T	A	16: 15,855,531 (GRCm39)	H328L	probably damaging	Het
Sun5	T	A	2: 153,712,872 (GRCm39)	D16V	probably damaging	Het
Syde2	G	A	3: 145,720,135 (GRCm39)	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,146,238 (GRCm39)	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,794,195 (GRCm39)		probably benign	Het
Timm44	C	A	8: 4,310,532 (GRCm39)	E407*	probably null	Het
Tnpo2	A	G	8: 85,773,991 (GRCm39)	T342A	probably benign	Het
Trio	A	G	15: 27,767,993 (GRCm39)	C1964R	probably benign	Het
Trip11	A	C	12: 101,851,931 (GRCm39)	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,100,450 (GRCm39)	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,851,266 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,680,335 (GRCm39)		probably benign	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Unc5a	T	A	13: 55,152,767 (GRCm39)	S838T	probably damaging	Het
Uxs1	T	C	1: 43,804,046 (GRCm39)		probably null	Het
Vmn2r108	A	T	17: 20,683,096 (GRCm39)	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,309,599 (GRCm39)	G408R	probably damaging	Het
Zfp1004	T	A	2: 150,035,000 (GRCm39)	C471*	probably null	Het
Zfp609	G	A	9: 65,610,744 (GRCm39)	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,788,292 (GRCm39)	E341G	probably damaging	Het
Zfp707	A	T	15: 75,847,105 (GRCm39)	H312L	probably damaging	Het
Zfp773	T	C	7: 7,136,023 (GRCm39)	D191G	probably benign	Het
Zgrf1	C	A	3: 127,366,887 (GRCm39)	D755E	probably benign	Het
Zscan5b	T	A	7: 6,242,074 (GRCm39)	I431N	probably damaging	Het

Other mutations in Ggt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Ggt1	APN	10	75,420,697 (GRCm39)	missense	probably benign	0.15
IGL01593:Ggt1	APN	10	75,421,121 (GRCm39)	critical splice donor site	probably null
IGL02713:Ggt1	APN	10	75,410,178 (GRCm39)	missense	probably damaging	1.00
IGL03276:Ggt1	APN	10	75,416,331 (GRCm39)	unclassified	probably benign
chained	UTSW	10	75,421,791 (GRCm39)	missense	probably damaging	0.99
religion	UTSW	10	75,421,290 (GRCm39)	missense	possibly damaging	0.89
rigidity	UTSW	10	75,415,185 (GRCm39)	missense	possibly damaging	0.70
PIT4498001:Ggt1	UTSW	10	75,414,689 (GRCm39)	missense	possibly damaging	0.95
R0373:Ggt1	UTSW	10	75,415,104 (GRCm39)	missense	probably benign	0.11
R0420:Ggt1	UTSW	10	75,412,047 (GRCm39)	splice site	probably benign
R0630:Ggt1	UTSW	10	75,421,336 (GRCm39)	splice site	probably null
R1837:Ggt1	UTSW	10	75,415,128 (GRCm39)	missense	probably benign	0.00
R2655:Ggt1	UTSW	10	75,417,219 (GRCm39)	nonsense	probably null
R2656:Ggt1	UTSW	10	75,417,219 (GRCm39)	nonsense	probably null
R2910:Ggt1	UTSW	10	75,416,430 (GRCm39)	missense	probably benign	0.09
R3840:Ggt1	UTSW	10	75,417,219 (GRCm39)	nonsense	probably null
R3841:Ggt1	UTSW	10	75,417,219 (GRCm39)	nonsense	probably null
R4744:Ggt1	UTSW	10	75,421,733 (GRCm39)	missense	probably benign	0.00
R5254:Ggt1	UTSW	10	75,415,032 (GRCm39)	splice site	probably null
R5323:Ggt1	UTSW	10	75,421,495 (GRCm39)	critical splice acceptor site	probably null
R5326:Ggt1	UTSW	10	75,421,540 (GRCm39)	critical splice donor site	probably null
R5512:Ggt1	UTSW	10	75,420,718 (GRCm39)	missense	probably damaging	0.99
R5579:Ggt1	UTSW	10	75,421,782 (GRCm39)	missense	probably damaging	1.00
R5707:Ggt1	UTSW	10	75,421,072 (GRCm39)	missense	probably benign	0.01
R5961:Ggt1	UTSW	10	75,421,736 (GRCm39)	splice site	probably null
R6159:Ggt1	UTSW	10	75,420,799 (GRCm39)	missense	probably damaging	1.00
R6239:Ggt1	UTSW	10	75,421,515 (GRCm39)	splice site	probably null
R7224:Ggt1	UTSW	10	75,410,110 (GRCm39)	missense	possibly damaging	0.86
R7570:Ggt1	UTSW	10	75,421,428 (GRCm39)	missense	probably damaging	1.00
R7649:Ggt1	UTSW	10	75,421,290 (GRCm39)	missense	possibly damaging	0.89
R7702:Ggt1	UTSW	10	75,412,116 (GRCm39)	missense	probably benign	0.00
R7713:Ggt1	UTSW	10	75,421,508 (GRCm39)	missense	probably damaging	1.00
R7823:Ggt1	UTSW	10	75,410,175 (GRCm39)	missense	possibly damaging	0.88
R8070:Ggt1	UTSW	10	75,414,733 (GRCm39)	missense	probably damaging	0.98
R8185:Ggt1	UTSW	10	75,421,040 (GRCm39)	missense	possibly damaging	0.83
R8260:Ggt1	UTSW	10	75,417,245 (GRCm39)	missense	probably damaging	1.00
R8441:Ggt1	UTSW	10	75,415,185 (GRCm39)	missense	possibly damaging	0.70
R8832:Ggt1	UTSW	10	75,410,173 (GRCm39)	missense	possibly damaging	0.57
R8988:Ggt1	UTSW	10	75,412,056 (GRCm39)	missense	probably benign	0.41
R9272:Ggt1	UTSW	10	75,421,749 (GRCm39)	missense	probably benign
R9295:Ggt1	UTSW	10	75,421,743 (GRCm39)	missense	probably benign	0.00
R9355:Ggt1	UTSW	10	75,421,716 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACAAATCTGTGGCCCTGCTGAGAC -3'
(R):5'- AAGTTCAGCCCGCAAAGGCTTC -3'

Sequencing Primer
(F):5'- CGTGCCCTGTCctttctctc -3'
(R):5'- AAGGCTTCCCGCAGCTTG -3'

Posted On

2013-06-12