Mutagenetix > Incidental Mutations

Incidental Mutation 'R7224:Ggt1'

562042

Institutional Source

Beutler Lab

Gene Symbol

Ggt1

Ensembl Gene

ENSMUSG00000006345

Gene Name

gamma-glutamyltransferase 1

Synonyms

Ggtp, CD224, GGT, dwg

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75561604-75586200 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75574276 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 14 (V14D)

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

possibly damaging
Transcript: ENSMUST00000006508
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000124259
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000125770
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117968
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000128886
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118261
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000129232
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000131565
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119844
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000134503
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000139459
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000140219
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118870
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000141062
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143226
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000145079
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115483
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000145928
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345
AA Change: V14D

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

possibly damaging
Transcript: ENSMUST00000151212
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119387
Gene: ENSMUSG00000006345
AA Change: V14D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152657
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115818
Gene: ENSMUSG00000006345
AA Change: V14D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	A	G	8: 84,172,213	T577A	probably benign	Het
Aadac	C	T	3: 60,035,854	T60M	probably benign	Het
Actn4	C	T	7: 28,962,084	A34T	probably benign	Het
Acvrl1	A	G	15: 101,143,364	M466V	probably benign	Het
Adamts7	T	C	9: 90,185,815	Y453H	probably damaging	Het
Amfr	G	A	8: 93,984,856	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,539,727	T492M	probably benign	Het
Anxa6	A	G	11: 54,986,167	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,080,927	Y394D	unknown	Het
Atic	G	A	1: 71,570,855	V342I	probably benign	Het
Atl1	C	A	12: 69,955,353	T362N	probably benign	Het
Atp10a	A	T	7: 58,797,471	M654L	probably benign	Het
B3gnt5	A	T	16: 19,769,753	M241L	probably benign	Het
Bbs7	A	G	3: 36,605,728	V186A	possibly damaging	Het
C8b	T	C	4: 104,780,598	L89P	probably damaging	Het
Capn7	G	T	14: 31,370,721	E742*	probably null	Het
Ccdc162	G	A	10: 41,561,191	R1741C	probably damaging	Het
Chsy3	T	A	18: 59,408,975	L395H	probably damaging	Het
Cnot9	A	G	1: 74,517,229	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Cyp2d12	T	A	15: 82,557,648		probably null	Het
Dnah7a	A	G	1: 53,397,261	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,617,762	G533D	possibly damaging	Het
Elfn1	A	G	5: 139,972,473	S411G	probably benign	Het
Enpp3	T	C	10: 24,776,884	D725G	possibly damaging	Het
Epp13	T	G	7: 6,268,802	M77R	probably benign	Het
Fmnl1	T	C	11: 103,182,769		probably null	Het
Fndc8	T	C	11: 82,892,325	M44T	probably benign	Het
Gcgr	A	T	11: 120,534,712		probably benign	Het
Gigyf2	A	G	1: 87,403,725	I198M	unknown	Het
Gm28710	T	C	5: 16,836,594	V615A	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gm6034	T	A	17: 36,056,439	S59T	unknown	Het
Gm6408	G	A	5: 146,484,370	V270I	probably benign	Het
Gm853	C	G	4: 130,219,199	A135P	probably damaging	Het
Gpr20	A	T	15: 73,696,132	I136N	probably damaging	Het
Ide	T	C	19: 37,290,761	E565G		Het
Igsf9	T	C	1: 172,494,782	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,613,983	R416*	probably null	Het
Kcnd3	A	T	3: 105,669,084	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,706,777	M265L	probably benign	Het
Klhdc1	G	A	12: 69,263,149	S275N	probably damaging	Het
Lrba	A	C	3: 86,395,246	N1871T	probably damaging	Het
Lrrk1	A	G	7: 66,332,386	V169A	probably damaging	Het
Magi1	A	G	6: 93,683,089	I1175T	probably benign	Het
Man1a2	T	C	3: 100,582,053	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,810,002	N129S	probably damaging	Het
Mup5	G	A	4: 61,832,385	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,658,396	R216C	probably damaging	Het
Neb	T	C	2: 52,334,659		probably null	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr553	A	T	7: 102,614,767	M74K	probably damaging	Het
Olfr76	T	C	19: 12,120,548	T55A	probably benign	Het
Olfr875	G	A	9: 37,773,415	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,275,011	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,469,075	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,945,241	L623P		Het
Plxdc1	T	C	11: 97,932,327	T363A	possibly damaging	Het
Pole3	T	C	4: 62,524,050	D111G	unknown	Het
R3hdm2	T	A	10: 127,458,153	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,394,324	V90A		Het
Rcbtb1	C	G	14: 59,228,379	I390M	probably damaging	Het
Romo1	G	A	2: 156,144,375		probably benign	Het
Sars	A	G	3: 108,428,203	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,497,413	T327A	probably benign	Het
Slc30a5	A	G	13: 100,809,254	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,315,701	E43K	probably benign	Het
Slc38a2	A	C	15: 96,691,359	L418W	probably damaging	Het
Snx14	T	C	9: 88,394,561	E557G	possibly damaging	Het
Spata33	T	A	8: 123,221,998	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,477,403	H170L	probably damaging	Het
Trpm1	A	G	7: 64,219,106		probably null	Het
Tsr3	A	T	17: 25,242,595	E302D	probably benign	Het
Ttll11	A	G	2: 35,902,673	I386T	probably damaging	Het
Usp2	C	T	9: 44,075,969	T188M	possibly damaging	Het
Usp44	A	G	10: 93,845,993	I102V	probably benign	Het
Wasf1	A	G	10: 40,926,550	N67S	probably benign	Het
Zfp445	T	C	9: 122,852,143	N911S	probably benign	Het
Zfp467	A	G	6: 48,444,969		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TAGGATCCAGAGCTTTTGGTAGAAG -3'
(R):5'- TGAGTTATGCCCGAGCTCAC -3'

Sequencing Primer
(F):5'- TCCAGAGCTTTTGGTAGAAGGAATG -3'
(R):5'- CGAGCTCACTGGCCTTC -3'

Posted On

2019-06-26