Mutagenetix > Incidental Mutation

Incidental Mutation 'R5431:Ggt6'

428061

Institutional Source

Beutler Lab

Gene Symbol

Ggt6

Ensembl Gene

ENSMUSG00000040471

Gene Name

gamma-glutamyltransferase 6

Synonyms

MMRRC Submission

042847-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72435526-72438400 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72437738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 355 (T355A)

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

possibly damaging
Transcript: ENSMUST00000076443
AA Change: T355A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
AA Change: T355A

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

possibly damaging
Transcript: ENSMUST00000100903
AA Change: T317A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098463
Gene: ENSMUSG00000040471
AA Change: T317A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,538	S124G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,270,848	T27A	probably benign	Het
Aspg	T	A	12: 112,123,412	N461K	probably benign	Het
B4galnt3	T	A	6: 120,218,967	T300S	probably damaging	Het
BC035044	A	G	6: 128,885,007		probably benign	Het
Bmp5	C	T	9: 75,893,709	P374S	probably damaging	Het
C330018D20Rik	A	T	18: 56,957,856	F78L	probably benign	Het
Cds2	T	A	2: 132,302,170	S289T	probably benign	Het
Cerkl	C	T	2: 79,341,335	C393Y	probably damaging	Het
Ciita	C	T	16: 10,523,792	R1020C	probably damaging	Het
Dcaf13	C	A	15: 39,123,224	D130E	probably benign	Het
Dnal4	C	T	15: 79,762,447	G50R	probably damaging	Het
Elfn1	A	G	5: 139,971,568	N109S	probably damaging	Het
Ep400	A	G	5: 110,676,554	V2435A	unknown	Het
Fam178b	T	C	1: 36,632,485	E185G	probably damaging	Het
Fam227b	C	A	2: 126,126,931	L74F	probably benign	Het
Fam92b	C	A	8: 120,167,303		probably null	Het
Fgfr4	G	A	13: 55,156,651	V138I	probably benign	Het
Flnc	A	G	6: 29,456,384	I2161V	possibly damaging	Het
Frmd5	T	C	2: 121,562,909	N235S	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm14393	G	A	2: 175,063,876	T41I	probably damaging	Het
Gpr151	A	C	18: 42,578,867	S249A	probably damaging	Het
Gpr152	T	A	19: 4,143,747	V429D	probably benign	Het
Grm7	G	A	6: 111,358,426	M599I	probably benign	Het
Hdac4	T	A	1: 91,972,790	R54*	probably null	Het
Ice1	A	G	13: 70,592,650	L2146S	probably damaging	Het
Igfbpl1	C	T	4: 45,815,588	V183I	probably benign	Het
Kel	G	A	6: 41,698,420	S299F	probably benign	Het
Kif14	T	C	1: 136,496,695	I1016T	possibly damaging	Het
Lhx3	T	C	2: 26,201,118	D395G	probably damaging	Het
Micu1	T	C	10: 59,750,521	Y140H	possibly damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nbn	C	T	4: 15,986,593	H665Y	probably benign	Het
Pkhd1	G	T	1: 20,117,836	T3416K	probably benign	Het
Plxnb1	T	C	9: 109,100,772	F232S	probably damaging	Het
Pus7l	T	C	15: 94,529,486	N472D	probably damaging	Het
Rfx1	C	T	8: 84,082,720	Q225*	probably null	Het
Rnase2a	T	C	14: 51,255,563	Y115C	possibly damaging	Het
Ryr1	T	A	7: 29,109,812	D386V	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Homo
Sgcz	T	A	8: 37,639,984	T125S	probably damaging	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Syt2	A	G	1: 134,740,957	S36G	probably benign	Het
Tcaf3	A	G	6: 42,597,185	L31P	probably damaging	Het
Tenm3	C	A	8: 48,367,377	E142*	probably null	Het
Tgfbr2	G	T	9: 116,131,601	S94R	probably damaging	Het
Vmn2r12	A	G	5: 109,091,818	I293T	probably damaging	Het
Wrap73	G	A	4: 154,145,274	R34Q	probably damaging	Het
Zc3h14	A	G	12: 98,780,065	D511G	possibly damaging	Het
Zcchc11	T	A	4: 108,491,412	I297N	probably damaging	Het

Other mutations in Ggt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02442:Ggt6	APN	11	72436806	missense	possibly damaging	0.51
hallo	UTSW	11	72437667	missense	probably damaging	0.98
IGL03097:Ggt6	UTSW	11	72436813	missense	possibly damaging	0.71
R0080:Ggt6	UTSW	11	72437195	missense	possibly damaging	0.92
R0178:Ggt6	UTSW	11	72436818	missense	possibly damaging	0.71
R0595:Ggt6	UTSW	11	72437667	missense	probably damaging	0.98
R0842:Ggt6	UTSW	11	72437262	nonsense	probably null
R1131:Ggt6	UTSW	11	72435680	missense	possibly damaging	0.82
R1606:Ggt6	UTSW	11	72437733	missense	possibly damaging	0.92
R2029:Ggt6	UTSW	11	72437541	missense	possibly damaging	0.90
R2359:Ggt6	UTSW	11	72437551	missense	possibly damaging	0.92
R2869:Ggt6	UTSW	11	72437361	missense	probably benign	0.00
R2869:Ggt6	UTSW	11	72437361	missense	probably benign	0.00
R4462:Ggt6	UTSW	11	72437828	missense	possibly damaging	0.52
R4608:Ggt6	UTSW	11	72437943	missense	probably benign	0.04
R4735:Ggt6	UTSW	11	72436599	missense	probably benign
R5648:Ggt6	UTSW	11	72435716	missense	possibly damaging	0.46
R6390:Ggt6	UTSW	11	72436611	missense	possibly damaging	0.86
R6717:Ggt6	UTSW	11	72437520	nonsense	probably null
R7506:Ggt6	UTSW	11	72437898	missense	possibly damaging	0.73
R7798:Ggt6	UTSW	11	72435541	start gained	probably benign
R9025:Ggt6	UTSW	11	72437297	missense	possibly damaging	0.52
R9057:Ggt6	UTSW	11	72437241	missense	probably damaging	0.98
R9411:Ggt6	UTSW	11	72435734	missense	probably damaging	0.99
Z1177:Ggt6	UTSW	11	72436599	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGACCTGGGGTTAGAGTTAC -3'
(R):5'- TCGGCTTCTGTGTCATCCAG -3'

Sequencing Primer
(F):5'- GGTTAGAGTTACCTTCTGCTCAGC -3'
(R):5'- TCATCCAGGTTGTCACGAAG -3'

Posted On

2016-09-01