Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Ggt1'

304643

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ggt1

Ensembl Gene

ENSMUSG00000006345

Gene Name

gamma-glutamyltransferase 1

Synonyms

Ggtp, CD224, GGT, dwg

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

75561604-75586200 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75574344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 37 (Y37H)

Ref Sequence

ENSEMBL: ENSMUSP00000115818 (fasta)

Gene Model

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

AlphaFold

Q60928

Predicted Effect

probably damaging
Transcript: ENSMUST00000006508
AA Change: Y37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: Y37H

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: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345
AA Change: Y37H

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 damaging
Transcript: ENSMUST00000125770
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117968
Gene: ENSMUSG00000006345
AA Change: Y37H

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 damaging
Transcript: ENSMUST00000128886
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118261
Gene: ENSMUSG00000006345
AA Change: Y37H

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: 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: ENSMUST00000129232
AA Change: Y37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345
AA Change: Y37H

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 damaging
Transcript: ENSMUST00000131565
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119844
Gene: ENSMUSG00000006345
AA Change: Y37H

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: Y37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: Y37H

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: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345
AA Change: Y37H

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 damaging
Transcript: ENSMUST00000140219
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118870
Gene: ENSMUSG00000006345
AA Change: Y37H

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: Y37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345
AA Change: Y37H

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

possibly damaging
Transcript: ENSMUST00000143792
AA Change: Y37H

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345
AA Change: Y37H

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 damaging
Transcript: ENSMUST00000145079
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115483
Gene: ENSMUSG00000006345
AA Change: Y37H

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

unknown
Transcript: ENSMUST00000151212
AA Change: Y37H

SMART Domains

Protein: ENSMUSP00000119387
Gene: ENSMUSG00000006345
AA Change: Y37H

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 damaging
Transcript: ENSMUST00000145928
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345
AA Change: Y37H

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 damaging
Transcript: ENSMUST00000152657
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115818
Gene: ENSMUSG00000006345
AA Change: Y37H

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

noncoding transcript
Transcript: ENSMUST00000148447

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	probably damaging	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
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
R5254:Ggt1	UTSW	10	75579198	splice site	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	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

Posted On

2015-04-16