Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Ggt1'

399376

Institutional Source

Beutler Lab

Gene Symbol

Ggt1

Ensembl Gene

ENSMUSG00000006345

Gene Name

gamma-glutamyltransferase 1

Synonyms

Ggtp, CD224, GGT, dwg

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75561604-75586200 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 75579198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006508] [ENSMUST00000124259] [ENSMUST00000125770] [ENSMUST00000128886] [ENSMUST00000129232] [ENSMUST00000131565] [ENSMUST00000134503] [ENSMUST00000139459] [ENSMUST00000140219] [ENSMUST00000141062] [ENSMUST00000143226] [ENSMUST00000143792] [ENSMUST00000145928] [ENSMUST00000151212] [ENSMUST00000145079] [ENSMUST00000152657]

AlphaFold

Q60928

Predicted Effect

probably null
Transcript: ENSMUST00000006508

SMART Domains

Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345

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 null
Transcript: ENSMUST00000124259

SMART Domains

Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	235	1.6e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125770

SMART Domains

Protein: ENSMUSP00000117968
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	88	7.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128886

SMART Domains

Protein: ENSMUSP00000118261
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	126	2.8e-26	PFAM

Predicted Effect

probably null
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 benign
Transcript: ENSMUST00000129232

SMART Domains

Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	189	9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131565

SMART Domains

Protein: ENSMUSP00000119844
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	126	2.8e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000134503

SMART Domains

Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345

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 null
Transcript: ENSMUST00000139459

SMART Domains

Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	243	1.7e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140219

SMART Domains

Protein: ENSMUSP00000118870
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	126	2.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141062

Predicted Effect

probably benign
Transcript: ENSMUST00000143226

SMART Domains

Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	190	5.9e-53	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000143792

SMART Domains

Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	237	2.2e-71	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145928

SMART Domains

Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	210	6.5e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148447

Predicted Effect

probably benign
Transcript: ENSMUST00000151212

SMART Domains

Protein: ENSMUSP00000119387
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
PDB:4GDX\|A	23	60	3e-12	PDB

Predicted Effect

probably null
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: ENSMUST00000145079

SMART Domains

Protein: ENSMUSP00000115483
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	110	2.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152657

SMART Domains

Protein: ENSMUSP00000115818
Gene: ENSMUSG00000006345

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:G_glu_transpept	54	110	2.1e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,458,398	C296*	probably null	Het
Adam11	T	A	11: 102,774,272	Y413*	probably null	Het
Ankhd1	A	G	18: 36,656,715	I907V	probably benign	Het
Arrdc5	A	G	17: 56,297,897	I130T	probably benign	Het
Asic5	T	A	3: 82,020,987	I419K	probably damaging	Het
Atp4a	A	T	7: 30,715,530	E248V	probably damaging	Het
Avil	C	A	10: 127,011,761	V154L	probably benign	Het
Bclaf1	T	A	10: 20,323,536	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,746,416		probably benign	Het
Cd200r4	A	C	16: 44,832,090	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,552,202	M1K	probably null	Het
Cfap46	T	A	7: 139,678,514	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,062,606	F533L	probably benign	Het
Chil4	T	A	3: 106,219,452	I5F	probably benign	Het
Ctu2	A	T	8: 122,476,588	R48W	probably damaging	Het
Daam1	A	T	12: 71,946,576	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415	Y328N	possibly damaging	Het
Dst	A	T	1: 34,177,931	K1151*	probably null	Het
Ect2	T	C	3: 27,130,070	D503G	probably damaging	Het
Epm2a	C	A	10: 11,457,345	D307E	probably benign	Het
Exph5	A	T	9: 53,337,930	D73V	probably damaging	Het
Fam20b	C	T	1: 156,705,740	G102D	probably damaging	Het
Fat2	T	C	11: 55,281,175	N2904S	probably damaging	Het
Flt3	T	A	5: 147,375,690	Q147L	possibly damaging	Het
Fndc11	A	G	2: 181,222,163	T254A	possibly damaging	Het
Galnt15	C	T	14: 32,058,287	R514*	probably null	Het
Gbgt1	A	G	2: 28,505,208	D286G	probably damaging	Het
Gm26526	A	T	7: 39,589,234		noncoding transcript	Het
H2-K1	T	C	17: 33,997,462	T237A	probably damaging	Het
Igf1r	T	A	7: 68,207,319	S1010T	probably damaging	Het
Il21	T	C	3: 37,227,735	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,569,175	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,314,594	P2173S	probably benign	Het
Krt1	A	T	15: 101,846,368	S512T	unknown	Het
Krtap16-1	G	A	11: 99,985,598	R327*	probably null	Het
Lama1	T	A	17: 67,756,716	I745N	probably benign	Het
Lrrk1	T	A	7: 66,307,107	N372I	probably benign	Het
Lyst	A	T	13: 13,683,070	E2481D	probably benign	Het
Map2k1	A	T	9: 64,187,745		probably benign	Het
Mbip	A	G	12: 56,337,443	V215A	probably damaging	Het
Mdc1	T	A	17: 35,847,922	V398D	probably benign	Het
Mog	T	G	17: 37,012,372	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 47,309,436		noncoding transcript	Het
Muc5b	C	T	7: 141,864,540	S3741L	probably benign	Het
Myo5a	A	T	9: 75,130,120	I202F	probably damaging	Het
Myo5b	A	T	18: 74,700,606	I818F	possibly damaging	Het
Nfia	T	A	4: 98,014,297	M262K	probably damaging	Het
Nisch	C	T	14: 31,206,567		probably null	Het
Nkd1	A	G	8: 88,589,194	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,893,560	K284*	probably null	Het
Olfr1052	A	T	2: 86,297,921	Y35F	probably damaging	Het
Olfr1058	A	T	2: 86,386,140	S93T	possibly damaging	Het
Olfr262	A	G	19: 12,241,248	S138P	probably damaging	Het
Olfr305	A	T	7: 86,364,190	V49E	possibly damaging	Het
Olfr619	T	G	7: 103,603,789	I45R	probably benign	Het
Olfr723	A	T	14: 49,928,779	I255N	probably damaging	Het
Olfr725	C	A	14: 50,034,678	A242S	possibly damaging	Het
Olfr972	A	T	9: 39,873,445	T57S	possibly damaging	Het
Pcdhb17	A	T	18: 37,486,825	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,726,620	D243V	probably benign	Het
Polq	A	T	16: 37,089,319	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,182,738	Y506*	probably null	Het
Sp110	G	C	1: 85,577,202		probably benign	Het
Tarbp1	G	A	8: 126,467,156	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,627,547	F13V	probably benign	Het
Tgfb2	A	G	1: 186,704,483	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,411,806	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,538,033	K158N	probably benign	Het
Tnip2	G	T	5: 34,503,578	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075		probably null	Het
Ttc28	C	T	5: 111,271,238	P1398S	probably benign	Het
Umodl1	T	G	17: 30,980,359	I308S	possibly damaging	Het
Vcan	A	T	13: 89,691,600	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,063,077	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,825,318	C542S	probably damaging	Het
Wiz	T	A	17: 32,378,496		probably benign	Het
Wrap73	A	G	4: 154,155,346	Y343C	probably benign	Het

Other mutations in Ggt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Ggt1	APN	10	75584863	missense	probably benign	0.15
IGL01593:Ggt1	APN	10	75585287	critical splice donor site	probably null
IGL02713:Ggt1	APN	10	75574344	missense	probably damaging	1.00
IGL03276:Ggt1	APN	10	75580497	unclassified	probably benign
chained	UTSW	10	75585957	missense	probably damaging	0.99
religion	UTSW	10	75585456	missense	possibly damaging	0.89
rigidity	UTSW	10	75579351	missense	possibly damaging	0.70
PIT4498001:Ggt1	UTSW	10	75578855	missense	possibly damaging	0.95
R0373:Ggt1	UTSW	10	75579270	missense	probably benign	0.11
R0420:Ggt1	UTSW	10	75576213	splice site	probably benign
R0505:Ggt1	UTSW	10	75585957	missense	probably damaging	0.99
R0630:Ggt1	UTSW	10	75585502	splice site	probably null
R1837:Ggt1	UTSW	10	75579294	missense	probably benign	0.00
R2655:Ggt1	UTSW	10	75581385	nonsense	probably null
R2656:Ggt1	UTSW	10	75581385	nonsense	probably null
R2910:Ggt1	UTSW	10	75580596	missense	probably benign	0.09
R3840:Ggt1	UTSW	10	75581385	nonsense	probably null
R3841:Ggt1	UTSW	10	75581385	nonsense	probably null
R4744:Ggt1	UTSW	10	75585899	missense	probably benign	0.00
R5323:Ggt1	UTSW	10	75585661	critical splice acceptor site	probably null
R5326:Ggt1	UTSW	10	75585706	critical splice donor site	probably null
R5512:Ggt1	UTSW	10	75584884	missense	probably damaging	0.99
R5579:Ggt1	UTSW	10	75585948	missense	probably damaging	1.00
R5707:Ggt1	UTSW	10	75585238	missense	probably benign	0.01
R5961:Ggt1	UTSW	10	75585902	splice site	probably null
R6159:Ggt1	UTSW	10	75584965	missense	probably damaging	1.00
R6239:Ggt1	UTSW	10	75585681	splice site	probably null
R7224:Ggt1	UTSW	10	75574276	missense	possibly damaging	0.86
R7570:Ggt1	UTSW	10	75585594	missense	probably damaging	1.00
R7649:Ggt1	UTSW	10	75585456	missense	possibly damaging	0.89
R7702:Ggt1	UTSW	10	75576282	missense	probably benign	0.00
R7713:Ggt1	UTSW	10	75585674	missense	probably damaging	1.00
R7823:Ggt1	UTSW	10	75574341	missense	possibly damaging	0.88
R8070:Ggt1	UTSW	10	75578899	missense	probably damaging	0.98
R8185:Ggt1	UTSW	10	75585206	missense	possibly damaging	0.83
R8260:Ggt1	UTSW	10	75581411	missense	probably damaging	1.00
R8441:Ggt1	UTSW	10	75579351	missense	possibly damaging	0.70
R8832:Ggt1	UTSW	10	75574339	missense	possibly damaging	0.57
R8988:Ggt1	UTSW	10	75576222	missense	probably benign	0.41
R9272:Ggt1	UTSW	10	75585915	missense	probably benign
R9295:Ggt1	UTSW	10	75585909	missense	probably benign	0.00
R9355:Ggt1	UTSW	10	75585882	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCACTCTGCTTTTGAGAGCC -3'
(R):5'- TGTCTTTCACAATCTGGGCTG -3'

Sequencing Primer
(F):5'- ACACAGTCAGAGCCTGATTTAG -3'
(R):5'- CTGTGAGGCTCCCATTGTAGAAG -3'

Posted On

2016-07-06