Mutagenetix > Incidental Mutation

Incidental Mutation 'R0595:Ggt6'

55077

Institutional Source

Beutler Lab

Gene Symbol

Ggt6

Ensembl Gene

ENSMUSG00000040471

Gene Name

gamma-glutamyltransferase 6

Synonyms

9030405D14Rik

MMRRC Submission

038785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0595 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

72326352-72329226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72328493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 331 (L331Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045633] [ENSMUST00000076443] [ENSMUST00000100903] [ENSMUST00000108499]

AlphaFold

Q6PDE7

Predicted Effect

probably benign
Transcript: ENSMUST00000045633

SMART Domains

Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:DNA_pol_phi	70	835	1.2e-194	PFAM
low complexity region	839	852	N/A	INTRINSIC
low complexity region	1080	1090	N/A	INTRINSIC
low complexity region	1109	1122	N/A	INTRINSIC
low complexity region	1259	1269	N/A	INTRINSIC
low complexity region	1314	1329	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000076443
AA Change: L331Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
AA Change: L331Q

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
low complexity region	53	77	N/A	INTRINSIC
Pfam:G_glu_transpept	124	179	1.4e-9	PFAM
Pfam:G_glu_transpept	180	276	7.6e-11	PFAM
Pfam:G_glu_transpept	327	402	1.4e-9	PFAM
low complexity region	449	460	N/A	INTRINSIC
low complexity region	475	489	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100903
AA Change: L293Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098463
Gene: ENSMUSG00000040471
AA Change: L293Q

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
low complexity region	53	77	N/A	INTRINSIC
Pfam:G_glu_transpept	125	238	2.1e-11	PFAM
Pfam:G_glu_transpept	290	367	6.7e-9	PFAM
low complexity region	411	422	N/A	INTRINSIC
low complexity region	437	451	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108499

SMART Domains

Protein: ENSMUSP00000104139
Gene: ENSMUSG00000040471

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162048

Meta Mutation Damage Score

0.3840

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,790,417 (GRCm39)	D1093E	probably damaging	Het
Aldh2	G	T	5: 121,711,563 (GRCm39)	A276D	probably damaging	Het
Aldh2	C	T	5: 121,711,564 (GRCm39)	A276T	probably damaging	Het
Aldh7a1	C	T	18: 56,679,965 (GRCm39)		probably benign	Het
Ano1	C	T	7: 144,143,890 (GRCm39)	R964H	possibly damaging	Het
Apob	G	A	12: 8,058,369 (GRCm39)	V2251I	probably benign	Het
Atp6v1e1	A	G	6: 120,778,091 (GRCm39)	V148A	probably benign	Het
Bbs9	T	A	9: 22,408,111 (GRCm39)	H73Q	probably benign	Het
Brca1	A	G	11: 101,415,713 (GRCm39)	V807A	probably benign	Het
Cacna1b	C	T	2: 24,540,001 (GRCm39)		probably benign	Het
Cadps2	A	T	6: 23,321,703 (GRCm39)		probably null	Het
Cep152	T	C	2: 125,436,983 (GRCm39)	Q519R	probably damaging	Het
Cep295	A	C	9: 15,243,487 (GRCm39)	Y1608*	probably null	Het
Cfap54	T	C	10: 92,720,598 (GRCm39)	I2619V	unknown	Het
Dnajb9	A	G	12: 44,255,067 (GRCm39)	V7A	probably benign	Het
Ep400	T	C	5: 110,851,408 (GRCm39)	K1358R	unknown	Het
Fbxw7	C	A	3: 84,884,674 (GRCm39)		probably null	Het
Fsip2	T	C	2: 82,777,296 (GRCm39)	Y108H	probably damaging	Het
Ifitm1	T	A	7: 140,548,242 (GRCm39)	I25N	possibly damaging	Het
Krt75	C	T	15: 101,476,789 (GRCm39)	E367K	probably damaging	Het
Lifr	A	G	15: 7,206,950 (GRCm39)	Y487C	probably damaging	Het
Map3k6	G	T	4: 132,968,574 (GRCm39)	G59W	probably damaging	Het
Mme	A	G	3: 63,235,602 (GRCm39)	T129A	probably benign	Het
Mmp10	G	A	9: 7,508,199 (GRCm39)	E442K	probably benign	Het
Myh13	T	C	11: 67,235,672 (GRCm39)	S646P	probably benign	Het
Nbea	A	T	3: 55,535,917 (GRCm39)	I2889N	probably benign	Het
Nlrp4d	T	A	7: 10,114,972 (GRCm39)	K581N	probably benign	Het
Nr3c2	C	T	8: 77,636,233 (GRCm39)	P445S	possibly damaging	Het
Or5p63	A	T	7: 107,810,868 (GRCm39)	N289K	probably damaging	Het
Pck1	T	A	2: 172,998,822 (GRCm39)	V360E	probably damaging	Het
Plekha7	T	C	7: 115,744,203 (GRCm39)	D766G	probably damaging	Het
Prag1	A	G	8: 36,614,156 (GRCm39)	N1236S	probably damaging	Het
Prkdc	A	C	16: 15,625,952 (GRCm39)	Q3326P	probably damaging	Het
Prrc2b	T	C	2: 32,073,189 (GRCm39)	M57T	probably damaging	Het
Rb1	A	T	14: 73,511,120 (GRCm39)	F330I	probably damaging	Het
Rufy4	A	G	1: 74,180,089 (GRCm39)	E448G	possibly damaging	Het
Scn10a	T	A	9: 119,495,129 (GRCm39)	M371L	probably benign	Het
Sgta	T	C	10: 80,884,742 (GRCm39)	D189G	probably damaging	Het
Spata31d1b	A	G	13: 59,864,091 (GRCm39)	H413R	probably benign	Het
Stau2	T	C	1: 16,510,674 (GRCm39)	T95A	probably damaging	Het
Supt4a	C	T	11: 87,633,982 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,605,003 (GRCm39)		probably null	Het
Tap2	T	A	17: 34,431,328 (GRCm39)	V422D	probably damaging	Het
Tas2r138	A	G	6: 40,589,799 (GRCm39)	L149P	probably damaging	Het
Tex15	T	C	8: 34,062,645 (GRCm39)	S692P	probably damaging	Het
Tgm2	C	T	2: 157,984,962 (GRCm39)	R48H	probably damaging	Het
Ticrr	T	A	7: 79,345,311 (GRCm39)	F1725L	possibly damaging	Het
Tnpo2	T	A	8: 85,778,670 (GRCm39)	C672*	probably null	Het
Xkr9	A	G	1: 13,771,008 (GRCm39)	I175V	probably benign	Het
Zfp428	T	A	7: 24,214,803 (GRCm39)	S140T	probably benign	Het

Other mutations in Ggt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02442:Ggt6	APN	11	72,327,632 (GRCm39)	missense	possibly damaging	0.51
hallo	UTSW	11	72,328,493 (GRCm39)	missense	probably damaging	0.98
IGL03097:Ggt6	UTSW	11	72,327,639 (GRCm39)	missense	possibly damaging	0.71
R0080:Ggt6	UTSW	11	72,328,021 (GRCm39)	missense	possibly damaging	0.92
R0178:Ggt6	UTSW	11	72,327,644 (GRCm39)	missense	possibly damaging	0.71
R0842:Ggt6	UTSW	11	72,328,088 (GRCm39)	nonsense	probably null
R1131:Ggt6	UTSW	11	72,326,506 (GRCm39)	missense	possibly damaging	0.82
R1606:Ggt6	UTSW	11	72,328,559 (GRCm39)	missense	possibly damaging	0.92
R2029:Ggt6	UTSW	11	72,328,367 (GRCm39)	missense	possibly damaging	0.90
R2359:Ggt6	UTSW	11	72,328,377 (GRCm39)	missense	possibly damaging	0.92
R2869:Ggt6	UTSW	11	72,328,187 (GRCm39)	missense	probably benign	0.00
R2869:Ggt6	UTSW	11	72,328,187 (GRCm39)	missense	probably benign	0.00
R4462:Ggt6	UTSW	11	72,328,654 (GRCm39)	missense	possibly damaging	0.52
R4608:Ggt6	UTSW	11	72,328,769 (GRCm39)	missense	probably benign	0.04
R4735:Ggt6	UTSW	11	72,327,425 (GRCm39)	missense	probably benign
R5431:Ggt6	UTSW	11	72,328,564 (GRCm39)	missense	possibly damaging	0.71
R5648:Ggt6	UTSW	11	72,326,542 (GRCm39)	missense	possibly damaging	0.46
R6390:Ggt6	UTSW	11	72,327,437 (GRCm39)	missense	possibly damaging	0.86
R6717:Ggt6	UTSW	11	72,328,346 (GRCm39)	nonsense	probably null
R7506:Ggt6	UTSW	11	72,328,724 (GRCm39)	missense	possibly damaging	0.73
R7798:Ggt6	UTSW	11	72,326,367 (GRCm39)	start gained	probably benign
R9025:Ggt6	UTSW	11	72,328,123 (GRCm39)	missense	possibly damaging	0.52
R9057:Ggt6	UTSW	11	72,328,067 (GRCm39)	missense	probably damaging	0.98
R9411:Ggt6	UTSW	11	72,326,560 (GRCm39)	missense	probably damaging	0.99
Z1177:Ggt6	UTSW	11	72,327,425 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTTCTGCCATACCAATGGAACCC -3'
(R):5'- TGTGTCATCCAGGTTGTCACGAAG -3'

Sequencing Primer
(F):5'- TGTATTACGCAGCGCAGC -3'
(R):5'- TTCCAGGTTGCTGAGCAGAAC -3'

Posted On

2013-07-11