Mutagenetix > Incidental Mutation

Incidental Mutation 'R5326:Ggt1'

421973

Institutional Source

Beutler Lab

Gene Symbol

Ggt1

Ensembl Gene

ENSMUSG00000006345

Gene Name

gamma-glutamyltransferase 1

Synonyms

Ggtp, dwg, GGT, CD224

MMRRC Submission

042909-MU

Accession Numbers

Essential gene?

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

Stock #

R5326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75397438-75422034 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 75421540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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

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 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

noncoding transcript
Transcript: ENSMUST00000148447

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 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

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: ENSMUST00000218807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219214

Predicted Effect

probably benign
Transcript: ENSMUST00000189991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219247

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,138,336 (GRCm39)	T127A	probably damaging	Het
Aadacl2	C	T	3: 59,932,484 (GRCm39)	T333I	probably damaging	Het
Actl6b	T	C	5: 137,565,313 (GRCm39)	S366P	probably damaging	Het
Actr10	T	C	12: 71,001,430 (GRCm39)		probably benign	Het
Adgrf5	T	A	17: 43,750,965 (GRCm39)	I510N	probably damaging	Het
Adra2a	A	G	19: 54,035,112 (GRCm39)	Y156C	probably damaging	Het
Angpt4	T	C	2: 151,767,464 (GRCm39)		probably null	Het
Ankdd1a	T	A	9: 65,411,472 (GRCm39)		probably null	Het
AW146154	C	A	7: 41,130,801 (GRCm39)	G105V	probably benign	Het
Brd3	A	G	2: 27,340,556 (GRCm39)	L551P	probably benign	Het
Calb2	C	T	8: 110,883,610 (GRCm39)	G38D	possibly damaging	Het
Cand1	G	A	10: 119,047,933 (GRCm39)	A519V	probably benign	Het
Cnbd1	T	C	4: 18,860,517 (GRCm39)	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,690,201 (GRCm39)	M247K	probably damaging	Het
Cog6	T	A	3: 52,921,237 (GRCm39)	Q123L	probably null	Het
Crx	G	A	7: 15,602,262 (GRCm39)	R139C	probably damaging	Het
Ctrc	A	G	4: 141,571,037 (GRCm39)	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,757,779 (GRCm39)	D326G	probably damaging	Het
Depdc1a	T	C	3: 159,232,286 (GRCm39)	V679A	probably damaging	Het
Dyrk1a	A	G	16: 94,487,440 (GRCm39)	D512G	probably damaging	Het
Edem1	C	T	6: 108,831,290 (GRCm39)	R584C	possibly damaging	Het
Emcn	A	G	3: 137,085,638 (GRCm39)	T79A	probably benign	Het
Fbrsl1	C	T	5: 110,526,307 (GRCm39)	G437R	probably damaging	Het
Fbxo9	T	C	9: 78,008,938 (GRCm39)	M12V	possibly damaging	Het
Fcgbpl1	A	T	7: 27,854,914 (GRCm39)	I1847F	probably damaging	Het
Flii	A	G	11: 60,609,688 (GRCm39)	S640P	probably benign	Het
Frs2	T	C	10: 116,913,468 (GRCm39)	S121G	probably benign	Het
Fsip2	A	T	2: 82,812,207 (GRCm39)	N2842I	possibly damaging	Het
Fst	G	T	13: 114,592,241 (GRCm39)	Q159K	probably damaging	Het
Gigyf2	T	C	1: 87,352,860 (GRCm39)		probably benign	Het
Gm10439	T	G	X: 148,419,159 (GRCm39)	*434E	probably null	Het
Gm9476	T	A	10: 100,142,996 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,703,127 (GRCm39)	N102K	possibly damaging	Het
Gml	T	C	15: 74,688,299 (GRCm39)	N56S	probably damaging	Het
Gpam	A	C	19: 55,079,597 (GRCm39)	S128R	probably benign	Het
Gucy1b2	C	T	14: 62,690,779 (GRCm39)		probably null	Het
Hhipl2	A	G	1: 183,214,055 (GRCm39)	D377G	probably damaging	Het
Hmx3	C	T	7: 131,146,146 (GRCm39)	Q285*	probably null	Het
Hspa14	A	G	2: 3,503,560 (GRCm39)	V116A	possibly damaging	Het
Ighv5-17	T	C	12: 113,822,878 (GRCm39)	D81G	possibly damaging	Het
Ipo5	T	C	14: 121,163,683 (GRCm39)	V247A	probably benign	Het
Iqcd	A	G	5: 120,740,440 (GRCm39)	Q257R	probably damaging	Het
Itpk1	T	C	12: 102,540,225 (GRCm39)	N286S	possibly damaging	Het
Knl1	T	A	2: 118,898,829 (GRCm39)	C177S	possibly damaging	Het
Knop1	T	C	7: 118,452,495 (GRCm39)	K23E	possibly damaging	Het
Ksr2	T	A	5: 117,846,305 (GRCm39)	V724E	probably damaging	Het
Lrrc17	G	A	5: 21,780,156 (GRCm39)	G377S	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,244,784 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,355,907 (GRCm39)	T622S	probably benign	Het
Msantd2	G	A	9: 37,428,555 (GRCm39)	G185R	probably damaging	Het
Mtmr2	A	G	9: 13,699,943 (GRCm39)	Y38C	probably damaging	Het
Mycbpap	A	T	11: 94,398,572 (GRCm39)		probably null	Het
Nadsyn1	T	A	7: 143,362,567 (GRCm39)	R279W	probably benign	Het
Or1e25	T	A	11: 73,494,030 (GRCm39)	V208E	possibly damaging	Het
Or2t48	A	C	11: 58,420,710 (GRCm39)	V34G	probably benign	Het
Or56b35	T	A	7: 104,963,646 (GRCm39)	F145Y	probably damaging	Het
Or7a38	G	A	10: 78,753,420 (GRCm39)	V249I	possibly damaging	Het
Pcdhga4	A	T	18: 37,819,651 (GRCm39)	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,634,515 (GRCm39)		silent	Het
Prkar1b	T	C	5: 139,113,544 (GRCm39)		probably null	Het
Ric8b	T	C	10: 84,828,076 (GRCm39)	Y467H	probably damaging	Het
Rin1	A	G	19: 5,102,652 (GRCm39)	E387G	probably damaging	Het
Robo2	G	A	16: 73,695,853 (GRCm39)	T1430I	probably benign	Het
Seh1l	C	T	18: 67,908,069 (GRCm39)		probably benign	Het
Slc37a1	A	T	17: 31,559,236 (GRCm39)	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,712,170 (GRCm39)	F233S	probably damaging	Het
Smyd3	A	T	1: 179,238,024 (GRCm39)	D114E	probably benign	Het
Snrnp70	GCGGTCCCGGTCCCGGTC	GCGGTCCCGGTC	7: 45,026,657 (GRCm39)		probably benign	Het
Speer4a1	T	A	5: 26,241,736 (GRCm39)	N130I	probably damaging	Het
Spin1	A	G	13: 51,293,563 (GRCm39)	Y91C	probably damaging	Het
Tdrd7	T	C	4: 46,029,757 (GRCm39)	V1030A	probably benign	Het
Trim30c	T	A	7: 104,037,511 (GRCm39)	M152L	possibly damaging	Het
Tsga10	T	A	1: 37,800,598 (GRCm39)	D542V	probably damaging	Het
Unc93a2	A	T	17: 7,637,187 (GRCm39)	C334S	probably benign	Het
Vmn1r175	A	T	7: 23,508,531 (GRCm39)	I32N	possibly damaging	Het
Vmn1r81	A	T	7: 11,994,034 (GRCm39)	D191E	probably damaging	Het
Wdr11	T	C	7: 129,226,973 (GRCm39)	S812P	probably damaging	Het
Zbtb5	C	A	4: 44,995,052 (GRCm39)	V111F	probably damaging	Het
Zdbf2	T	G	1: 63,343,570 (GRCm39)	C650G	possibly damaging	Het
Zfp282	T	A	6: 47,882,261 (GRCm39)	N649K	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
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'- ACTGGTATGTGCCTTTTGCC -3'
(R):5'- ATCTTCAGGCCTGCAGTCAC -3'

Sequencing Primer
(F):5'- GTATGTGCCTTTTGCCTGCCC -3'
(R):5'- CTGCAGTCACCACCTGG -3'

Posted On

2016-08-04