Mutagenetix > Incidental Mutation

Incidental Mutation 'R2869:Ggt6'

266455

Institutional Source

Beutler Lab

Gene Symbol

Ggt6

Ensembl Gene

ENSMUSG00000040471

Gene Name

gamma-glutamyltransferase 6

Synonyms

9030405D14Rik

MMRRC Submission

040457-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2869 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

72326352-72329226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72328187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 229 (N229I)

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 benign
Transcript: ENSMUST00000076443
AA Change: N229I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
AA Change: N229I

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 benign
Transcript: ENSMUST00000100903
AA Change: N191I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000098463
Gene: ENSMUSG00000040471
AA Change: N191I

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Ccl27a	C	T	4: 41,769,640 (GRCm39)	R73Q	probably benign	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm26902	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gsdme	A	T	6: 50,185,157 (GRCm39)	C432*	probably null	Het
Habp2	T	A	19: 56,276,423 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kcnb1	A	G	2: 166,947,855 (GRCm39)	L331P	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Krt13	A	G	11: 100,008,475 (GRCm39)	S421P	unknown	Het
Lactbl1	G	A	4: 136,354,097 (GRCm39)	C37Y	probably damaging	Het
Lzts2	C	A	19: 45,012,534 (GRCm39)	S321*	probably null	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Meikin	T	C	11: 54,264,333 (GRCm39)	V103A	possibly damaging	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Nbn	T	A	4: 15,963,810 (GRCm39)	D70E	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nwd2	A	T	5: 63,957,671 (GRCm39)	I334L	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or4k2	T	C	14: 50,423,811 (GRCm39)	T288A	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Serinc2	A	G	4: 130,159,005 (GRCm39)	S29P	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tprg1	T	C	16: 25,231,590 (GRCm39)	W189R	probably damaging	Het
Trim32	A	G	4: 65,532,694 (GRCm39)	D417G	probably damaging	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
R0595:Ggt6	UTSW	11	72,328,493 (GRCm39)	missense	probably damaging	0.98
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
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'- GGGGTCTCTTCTACAATAGCTCTTC -3'
(R):5'- AACTCTAACCCCAGGTCTCTG -3'

Sequencing Primer
(F):5'- TAGCTCTTCAGGAAACTCAACTG -3'
(R):5'- GTAATACAGCTGCCAGGT -3'

Posted On

2015-02-18