Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4498001:Ggt1'

556068

Institutional Source

Beutler Lab

Gene Symbol

Ggt1

Ensembl Gene

ENSMUSG00000006345

Gene Name

gamma-glutamyltransferase 1

Synonyms

Ggtp, dwg, GGT, CD224

Accession Numbers

Essential gene?

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

Stock #

PIT4498001 (G1)

Quality Score

94.0077

Status

Not validated

Chromosome

Chromosomal Location

75397438-75422034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75414689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 169 (V169A)

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]

AlphaFold

Q60928

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006508
AA Change: V169A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: V169A

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: V169A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345
AA Change: V169A

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: V73A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129232
AA Change: V169A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345
AA Change: V169A

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

possibly damaging
Transcript: ENSMUST00000134503
AA Change: V169A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: V169A

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: V169A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345
AA Change: V169A

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

possibly damaging
Transcript: ENSMUST00000143226
AA Change: V169A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345
AA Change: V169A

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: V169A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345
AA Change: V169A

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

possibly damaging
Transcript: ENSMUST00000145928
AA Change: V169A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345
AA Change: V169A

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: 93.2%
3x: 91.0%
10x: 86.1%
20x: 75.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	T	C	19: 40,562,800 (GRCm39)	N191S	probably benign	Het
Cacnb2	T	A	2: 14,879,630 (GRCm39)	L84*	probably null	Het
Cdhr2	C	T	13: 54,866,052 (GRCm39)	T284M	possibly damaging	Het
Defb45	T	C	2: 152,438,394 (GRCm39)		probably benign	Het
Dkk3	C	T	7: 111,718,679 (GRCm39)	V236M	probably benign	Het
Dscc1	A	T	15: 54,945,711 (GRCm39)	V328D	probably benign	Het
Epha3	T	C	16: 63,372,889 (GRCm39)	Y938C	probably damaging	Het
Erc1	A	T	6: 119,756,452 (GRCm39)	F435I	possibly damaging	Het
Fbxl5	T	C	5: 43,908,323 (GRCm39)	Y626C	possibly damaging	Het
Fmn2	A	G	1: 174,440,170 (GRCm39)	R1196G	probably damaging	Het
Gabrr1	C	T	4: 33,160,225 (GRCm39)	S303F	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm3182	T	A	14: 4,481,832 (GRCm38)	C9S	probably damaging	Het
Gpr88	A	C	3: 116,046,264 (GRCm39)	S16A	unknown	Het
Kalrn	A	T	16: 33,851,952 (GRCm39)	M2076K	possibly damaging	Het
Katnip	A	G	7: 125,412,768 (GRCm39)	T371A	probably benign	Het
Kcnd3	T	C	3: 105,566,025 (GRCm39)	I402T	probably damaging	Het
Mink1	A	G	11: 70,489,714 (GRCm39)	D57G	probably benign	Het
Ncl	T	C	1: 86,279,162 (GRCm39)	T584A	possibly damaging	Het
Nfx1	A	T	4: 40,977,244 (GRCm39)	Q306L	probably benign	Het
Ogdh	A	T	11: 6,290,504 (GRCm39)	D374V	probably benign	Het
Or5d39	T	A	2: 87,980,259 (GRCm39)	T35S	probably benign	Het
Pak5	T	A	2: 135,925,211 (GRCm39)	H697L	probably damaging	Het
Pappa	T	C	4: 65,234,469 (GRCm39)	C1425R	probably damaging	Het
Pramel26	T	C	4: 143,539,406 (GRCm39)	E29G	possibly damaging	Het
Rab3gap2	T	A	1: 185,013,882 (GRCm39)	I1196N	probably damaging	Het
Ralyl	A	T	3: 14,172,299 (GRCm39)	D56V	probably damaging	Het
Scin	C	T	12: 40,119,446 (GRCm39)		probably null	Het
Slc25a19	T	C	11: 115,514,781 (GRCm39)	I69V	possibly damaging	Het
Slc8a1	G	T	17: 81,956,269 (GRCm39)	Y256*	probably null	Het
Smyd1	T	C	6: 71,196,272 (GRCm39)	H372R	probably benign	Het
St8sia1	T	C	6: 142,859,848 (GRCm39)	T94A	probably damaging	Het
Stard9	T	A	2: 120,527,916 (GRCm39)	M1391K	possibly damaging	Het
Tlr9	G	A	9: 106,100,721 (GRCm39)	R4H	probably benign	Het
Trim50	A	G	5: 135,382,331 (GRCm39)	D61G	probably damaging	Het
Ttn	G	A	2: 76,597,295 (GRCm39)	P19873S	probably damaging	Het
Vmn1r228	G	T	17: 20,996,772 (GRCm39)	H249N	probably benign	Het
Vmn2r108	C	T	17: 20,683,279 (GRCm39)	G642S	probably damaging	Het
Wdr27	A	G	17: 15,154,831 (GRCm39)	S29P	probably benign	Het
Zan	A	G	5: 137,415,298 (GRCm39)		probably null	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
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
R5326:Ggt1	UTSW	10	75,421,540 (GRCm39)	critical splice donor 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'- ACAAGCACCTGACTGCAGAG -3'
(R):5'- AGGCTCTGACTGTGTTTCCAG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TTCCAGATGCAGTAAGTGGC -3'

Posted On

2019-06-07