Mutagenetix > Incidental Mutations

Incidental Mutation 'R8070:Ggt1'

620244

Institutional Source

Beutler Lab

Gene Symbol

Ggt1

Ensembl Gene

ENSMUSG00000006345

Gene Name

gamma-glutamyltransferase 1

Synonyms

Ggtp, CD224, GGT, dwg

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75561604-75586200 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75578899 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 184 (I184F)

Ref Sequence

ENSEMBL: ENSMUSP00000006508 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000006508
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: I184F

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 damaging
Transcript: ENSMUST00000124259
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345
AA Change: I184F

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

SMART Domains

Protein: ENSMUSP00000118825
Gene: ENSMUSG00000006345
AA Change: I88F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129232
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345
AA Change: I184F

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 damaging
Transcript: ENSMUST00000134503
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: I184F

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 damaging
Transcript: ENSMUST00000139459
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345
AA Change: I184F

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 damaging
Transcript: ENSMUST00000143226
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345
AA Change: I184F

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 damaging
Transcript: ENSMUST00000143792
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345
AA Change: I184F

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 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 damaging
Transcript: ENSMUST00000145928
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345
AA Change: I184F

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

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 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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 63,898,167	E82G	probably benign	Het
9830107B12Rik	A	G	17: 48,145,510	F86S	probably damaging	Het
Aamdc	A	T	7: 97,575,648	Y2*	probably null	Het
Acta1	T	A	8: 123,893,621	D26V	possibly damaging	Het
Adra1d	A	C	2: 131,561,582	L196R	probably damaging	Het
Agbl2	G	A	2: 90,791,565	C132Y	probably benign	Het
Amd1	A	G	10: 40,294,230	V92A	probably benign	Het
Arid4b	T	A	13: 14,136,259	I149K	probably benign	Het
Atg7	A	G	6: 114,697,080	M312V	probably benign	Het
Bap1	T	A	14: 31,256,686	V381E	probably damaging	Het
Cbfa2t3	C	T	8: 122,642,981	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,632,573	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,719,793	V479L	probably benign	Het
Chd2	A	G	7: 73,451,758	S1407P	probably benign	Het
Clstn2	A	G	9: 97,799,470	V39A	possibly damaging	Het
Cwh43	T	A	5: 73,421,463	M357K	possibly damaging	Het
Dcdc2a	T	A	13: 25,202,197	D351E	probably benign	Het
Dennd6b	T	C	15: 89,185,373	I517V	probably benign	Het
Dnah17	T	C	11: 118,024,671	E4374G	probably damaging	Het
Emsy	A	G	7: 98,626,715	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,060,982	E65D	probably benign	Het
Fam83f	T	A	15: 80,672,080	L55Q	probably damaging	Het
Fry	T	C	5: 150,478,007	F379L		Het
Fscb	A	T	12: 64,474,608	M28K	probably benign	Het
Gas7	G	A	11: 67,683,434	V412M	probably damaging	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gcn1l1	T	A	5: 115,588,998	V638E	probably benign	Het
Gigyf2	A	G	1: 87,440,907	N1103S	probably benign	Het
Gm13757	G	T	2: 88,446,659	T93K	probably benign	Het
Gm5592	G	A	7: 41,286,463	A130T	possibly damaging	Het
Gys2	T	C	6: 142,448,504		probably null	Het
Hmcn1	C	A	1: 150,649,992	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,880,036	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,074,105	T89M	probably damaging	Het
Ipo7	A	G	7: 110,052,807	D931G	probably benign	Het
Jakmip1	A	G	5: 37,173,287	E437G	probably benign	Het
Lingo3	C	T	10: 80,836,121		probably benign	Het
Lnpep	A	G	17: 17,538,638	S815P	probably damaging	Het
Ly6a	T	C	15: 74,997,600	D2G	probably damaging	Het
Madd	C	A	2: 91,158,014	E1223*	probably null	Het
Mapk8ip3	A	T	17: 24,901,104		probably null	Het
Mecom	T	C	3: 29,979,838	E239G	probably damaging	Het
Mug1	T	C	6: 121,875,879	V889A	probably benign	Het
Myo18b	T	A	5: 112,791,120	N1675I	probably benign	Het
Ndrg4	T	C	8: 95,700,128	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,714,644	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Olfm3	A	G	3: 115,101,955	D195G	probably damaging	Het
Olfr1384	A	T	11: 49,514,114	T159S	probably damaging	Het
Pds5a	A	G	5: 65,652,398	L407P	possibly damaging	Het
Pgm1	A	G	5: 64,112,082	N504S	probably benign	Het
Plce1	A	G	19: 38,701,839	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,239,624	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,876,069	S451G	probably benign	Het
Prox1	T	G	1: 190,160,910	N446T	probably damaging	Het
Ralgapa2	T	A	2: 146,353,279	R1195S	probably damaging	Het
Rere	A	G	4: 150,617,375	D37G	probably damaging	Het
Tfip11	T	A	5: 112,334,930	M560K	possibly damaging	Het
Thop1	T	C	10: 81,079,486	V260A	probably damaging	Het
Tle6	A	G	10: 81,598,642	M41T	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,792	S68P	possibly damaging	Het
Trim24	A	G	6: 37,957,726	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,278,470	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,922,487	I502V	probably benign	Het
Vmn2r79	A	T	7: 87,002,128	Y245F	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
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
R5254:Ggt1	UTSW	10	75579198	unclassified	probably null
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	unclassified	probably null
R6159:Ggt1	UTSW	10	75584965	missense	probably damaging	1.00
R6239:Ggt1	UTSW	10	75585681	unclassified	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

Predicted Primers

PCR Primer
(F):5'- TCCTAGGTGGCCTTTCAGTG -3'
(R):5'- AACACGGGTGGAATCTGTC -3'

Sequencing Primer
(F):5'- TGGCTGTCCCTGGTGAAATCC -3'
(R):5'- GGGTTCCCAGTGTCCCATC -3'

Posted On

2020-01-23