Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Ggt1'

585735

Institutional Source

Beutler Lab

Gene Symbol

Ggt1

Ensembl Gene

ENSMUSG00000006345

Gene Name

gamma-glutamyltransferase 1

Synonyms

Ggtp, dwg, GGT, CD224

MMRRC Submission

045631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75397438-75422034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75421428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 484 (I484F)

Ref Sequence

ENSEMBL: ENSMUSP00000006508 (fasta)

Gene Model

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

AlphaFold

Q60928

Predicted Effect

probably damaging
Transcript: ENSMUST00000006508
AA Change: I484F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: I484F

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

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: I484F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: I484F

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

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

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

probably benign
Transcript: ENSMUST00000218807

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,911,591 (GRCm39)	T613I	probably benign	Het
Ajuba	T	C	14: 54,813,859 (GRCm39)	E288G	probably damaging	Het
Ankrd12	C	T	17: 66,292,355 (GRCm39)	R1026K	probably benign	Het
Apol7b	T	C	15: 77,307,674 (GRCm39)	T274A	probably benign	Het
Arid4a	A	T	12: 71,109,916 (GRCm39)	R86*	probably null	Het
Asnsd1	C	T	1: 53,387,417 (GRCm39)	G70D	probably damaging	Het
Atg4c	T	A	4: 99,116,797 (GRCm39)	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,085,715 (GRCm39)	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,104,183 (GRCm39)	I209F	possibly damaging	Het
Bsn	T	C	9: 107,990,742 (GRCm39)	D1670G	probably damaging	Het
Cct8	T	A	16: 87,288,210 (GRCm39)	I121F	probably benign	Het
Cd209a	T	G	8: 3,794,151 (GRCm39)	D217A	probably damaging	Het
Cdk19	C	T	10: 40,353,954 (GRCm39)	S456L	possibly damaging	Het
Chd9	C	T	8: 91,721,208 (GRCm39)	H999Y	unknown	Het
Col5a1	G	A	2: 27,841,395 (GRCm39)	V339M	unknown	Het
Cr2	G	A	1: 194,851,648 (GRCm39)	R115*	probably null	Het
Cyb561	A	T	11: 105,828,470 (GRCm39)	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,393,187 (GRCm39)	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,848,342 (GRCm39)	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,244,932 (GRCm39)	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,303,356 (GRCm39)	S296P	probably benign	Het
Dmxl1	T	A	18: 50,027,024 (GRCm39)	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,347,098 (GRCm39)	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,126,413 (GRCm39)	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,438,712 (GRCm39)	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,518,619 (GRCm39)	Y594C	probably damaging	Het
Dph7	A	G	2: 24,855,642 (GRCm39)	D147G	probably damaging	Het
Drap1	T	C	19: 5,473,380 (GRCm39)	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,660,837 (GRCm39)	V392E	possibly damaging	Het
Dxo	A	G	17: 35,056,616 (GRCm39)	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,828,645 (GRCm39)	T11K	probably benign	Het
Esyt1	A	G	10: 128,354,801 (GRCm39)	V533A	possibly damaging	Het
Etv3	T	A	3: 87,443,338 (GRCm39)	C307*	probably null	Het
Fam114a1	T	A	5: 65,187,402 (GRCm39)		probably null	Het
Fam3c	T	A	6: 22,326,404 (GRCm39)		probably benign	Het
Fbn1	G	T	2: 125,239,772 (GRCm39)	T305K	probably benign	Het
Gpatch1	T	C	7: 34,993,237 (GRCm39)	D536G	probably damaging	Het
Gpx4	T	C	10: 79,890,875 (GRCm39)	I189T	probably damaging	Het
Gsr	T	A	8: 34,159,193 (GRCm39)	C85S	probably damaging	Het
Gsta5	A	T	9: 78,211,751 (GRCm39)	D171V	possibly damaging	Het
Havcr1	T	A	11: 46,661,369 (GRCm39)		probably null	Het
Heatr4	T	C	12: 84,026,418 (GRCm39)	T280A	probably benign	Het
Hmcn2	A	T	2: 31,313,923 (GRCm39)	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,312,556 (GRCm39)	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,432,358 (GRCm39)	V13A	probably benign	Het
Itgb2l	A	T	16: 96,227,439 (GRCm39)	F535I	probably benign	Het
Kdm5a	T	G	6: 120,404,803 (GRCm39)	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,503,691 (GRCm39)		probably null	Het
Ky	A	G	9: 102,419,528 (GRCm39)	I512V	probably benign	Het
Lamc1	A	T	1: 153,119,021 (GRCm39)	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,223,687 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,028,658 (GRCm39)	T521A	possibly damaging	Het
Mgam	A	T	6: 40,723,367 (GRCm39)	I491L	probably benign	Het
Mitd1	T	C	1: 37,929,273 (GRCm39)	E40G	probably damaging	Het
Mpzl3	A	G	9: 44,981,985 (GRCm39)	T218A	probably benign	Het
Mrpl42	A	G	10: 95,316,827 (GRCm39)	S77P	probably benign	Het
Mup5	C	T	4: 61,752,911 (GRCm39)	W37*	probably null	Het
Myh14	T	C	7: 44,281,850 (GRCm39)	I803V	probably benign	Het
Ncor2	T	A	5: 125,107,153 (GRCm39)	T744S		Het
Ndufv3	A	G	17: 31,746,596 (GRCm39)	D162G	probably damaging	Het
Nostrin	A	G	2: 69,006,150 (GRCm39)	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,469,807 (GRCm39)	E1288A	probably benign	Het
Or4c11c	A	G	2: 88,661,472 (GRCm39)	N4D	possibly damaging	Het
Or51b6b	C	A	7: 103,310,088 (GRCm39)	R123L	probably damaging	Het
Or52h1	T	A	7: 103,828,955 (GRCm39)	Y220F	probably damaging	Het
Or8g55	A	T	9: 39,784,751 (GRCm39)	Y60F	possibly damaging	Het
Patj	T	A	4: 98,312,737 (GRCm39)		probably null	Het
Pcm1	T	G	8: 41,720,381 (GRCm39)	I314R	possibly damaging	Het
Pcsk6	A	G	7: 65,683,646 (GRCm39)	T754A	probably benign	Het
Pde2a	A	T	7: 101,152,041 (GRCm39)	N326I	probably benign	Het
Plekhg4	T	C	8: 106,105,316 (GRCm39)	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,977,065 (GRCm39)	D135G	probably damaging	Het
Plin4	A	T	17: 56,413,776 (GRCm39)	M283K	probably benign	Het
Ppfia3	T	C	7: 44,990,172 (GRCm39)		probably null	Het
Prdm9	T	C	17: 15,775,914 (GRCm39)	N179S	probably benign	Het
Prrt3	T	C	6: 113,471,449 (GRCm39)	S908G	probably damaging	Het
Psg22	C	A	7: 18,456,660 (GRCm39)	S181Y	possibly damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,269,023 (GRCm39)	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529 (GRCm39)	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,046,396 (GRCm39)	M172L	probably benign	Het
Rtbdn	T	C	8: 85,679,556 (GRCm39)	L110P	probably damaging	Het
Ryr1	T	A	7: 28,778,010 (GRCm39)	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,211,299 (GRCm39)	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,358,965 (GRCm39)		probably null	Het
Serpina1a	A	T	12: 103,820,096 (GRCm39)	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 81,934,285 (GRCm39)	M262T	probably benign	Het
Sos2	G	A	12: 69,637,654 (GRCm39)	T1052M	probably damaging	Het
Spag16	G	A	1: 70,036,000 (GRCm39)	V343I	probably benign	Het
Spocd1	T	G	4: 129,823,957 (GRCm39)	D251E		Het
Stc2	G	T	11: 31,317,798 (GRCm39)	N74K	probably damaging	Het
Tasor2	A	G	13: 3,623,621 (GRCm39)	Y2110H	probably damaging	Het
Thbs3	C	T	3: 89,126,359 (GRCm39)	Q227*	probably null	Het
Tmem92	A	C	11: 94,669,816 (GRCm39)	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632 (GRCm39)	N20K	probably benign	Het
Tns1	T	C	1: 73,992,638 (GRCm39)	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,337 (GRCm39)	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,658,980 (GRCm39)	L392P	probably damaging	Het
Uggt1	T	A	1: 36,224,919 (GRCm39)	T572S	probably benign	Het
Usp17la	A	T	7: 104,509,604 (GRCm39)	T70S	probably damaging	Het
Usp31	C	T	7: 121,274,186 (GRCm39)	R370H	probably damaging	Het
Wdr83	C	T	8: 85,806,463 (GRCm39)	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,416,366 (GRCm39)		probably benign	Het
Zfp110	T	A	7: 12,583,267 (GRCm39)	N638K	possibly damaging	Het
Zfp747l1	T	A	7: 126,984,455 (GRCm39)	S216C	probably benign	Het
Zfp820	T	C	17: 22,037,994 (GRCm39)	T445A	probably benign	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
R0505:Ggt1	UTSW	10	75,421,791 (GRCm39)	missense	probably damaging	0.99
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
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'- TGGATCATAGGTAAGCAGCCTC -3'
(R):5'- TCAGAAGATGCCAGCCTCTAG -3'

Sequencing Primer
(F):5'- GTGTCCCTCAATCATCCTGGATAAG -3'
(R):5'- AGCCTCTAGGATGCTCTCTC -3'

Posted On

2019-10-17