Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02252:Ggt5'

286434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ggt5

Ensembl Gene

ENSMUSG00000006344

Gene Name

gamma-glutamyltransferase 5

Synonyms

Ggtla1, GGL, gamma-glutamyl leukotrienase, GGT-REL

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02252

Quality Score

Status

Chromosome

Chromosomal Location

75425174-75453034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75438566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 96 (I96V)

Ref Sequence

ENSEMBL: ENSMUSP00000072074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072217] [ENSMUST00000189972] [ENSMUST00000218807]

AlphaFold

Q9Z2A9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072217
AA Change: I96V

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344
AA Change: I96V

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:G_glu_transpept	58	568	1.6e-164	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188444

Predicted Effect

probably benign
Transcript: ENSMUST00000189972

SMART Domains

Protein: ENSMUSP00000139459
Gene: ENSMUSG00000006344

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000189991
AA Change: I68V

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218807
AA Change: I96V

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219247

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutants show an attenuation in neutrophil recruitment in an experimental model of peritonitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,444,678 (GRCm39)		probably benign	Het
Actl7b	A	T	4: 56,741,205 (GRCm39)	I51N	probably damaging	Het
Adamts12	A	G	15: 11,311,101 (GRCm39)	I1119M	probably benign	Het
Apol10a	T	A	15: 77,372,670 (GRCm39)	V102D	probably benign	Het
Atrx	T	C	X: 104,889,429 (GRCm39)	E1628G	possibly damaging	Het
Btnl2	C	T	17: 34,584,364 (GRCm39)	S429F	possibly damaging	Het
C4bp	C	A	1: 130,564,524 (GRCm39)	D387Y	probably damaging	Het
Ceacam23	G	T	7: 17,644,457 (GRCm39)	V525F	possibly damaging	Het
Crybg3	G	T	16: 59,372,887 (GRCm39)		probably benign	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Efcab3	C	A	11: 104,644,753 (GRCm39)	R1114S	possibly damaging	Het
Elp1	G	T	4: 56,759,813 (GRCm39)	Q1151K	probably benign	Het
Fign	A	G	2: 63,810,983 (GRCm39)	S96P	probably benign	Het
Gm3238	A	G	10: 77,606,691 (GRCm39)		probably benign	Het
Gm4792	G	T	10: 94,131,102 (GRCm39)	P69Q	unknown	Het
Ighv1-58	A	T	12: 115,275,897 (GRCm39)	N80K	possibly damaging	Het
Irgm1	C	T	11: 48,756,981 (GRCm39)	G277S	possibly damaging	Het
Jsrp1	A	G	10: 80,644,707 (GRCm39)	V233A	probably benign	Het
Kcp	T	A	6: 29,504,548 (GRCm39)	R85W	probably damaging	Het
Kif14	T	C	1: 136,406,130 (GRCm39)	Y565H	probably damaging	Het
Klk1b4	G	A	7: 43,860,094 (GRCm39)	W69*	probably null	Het
Knl1	A	T	2: 118,903,021 (GRCm39)	Q1574L	probably damaging	Het
Lao1	A	G	4: 118,824,613 (GRCm39)	N232D	probably benign	Het
Lipn	A	G	19: 34,049,157 (GRCm39)	I108V	probably benign	Het
Lrrc49	T	A	9: 60,595,142 (GRCm39)	M1L	probably benign	Het
Matn2	G	T	15: 34,316,736 (GRCm39)	R26L	probably damaging	Het
Mmp16	G	A	4: 18,110,523 (GRCm39)	D440N	probably damaging	Het
Mn1	G	A	5: 111,569,107 (GRCm39)	A1026T	probably damaging	Het
Mrgpra1	A	T	7: 46,984,912 (GRCm39)	F256I	probably benign	Het
Msantd3	A	C	4: 48,560,869 (GRCm39)	E148D	probably benign	Het
Mylk3	G	T	8: 86,082,105 (GRCm39)	L361I	probably benign	Het
Nlrp12	A	G	7: 3,293,980 (GRCm39)	S117P	probably benign	Het
Nsmaf	T	C	4: 6,398,378 (GRCm39)	E870G	probably benign	Het
Oplah	T	C	15: 76,188,964 (GRCm39)	T320A	probably damaging	Het
Or5p50	C	A	7: 107,422,353 (GRCm39)	A108S	probably benign	Het
Or7g34	T	A	9: 19,478,267 (GRCm39)	I138F	probably damaging	Het
Pard3	T	G	8: 128,125,237 (GRCm39)	S729A	probably benign	Het
Pdzd9	T	C	7: 120,262,238 (GRCm39)	I75V	probably benign	Het
Pgf	A	G	12: 85,216,199 (GRCm39)		probably benign	Het
Phf1	T	A	17: 27,154,109 (GRCm39)	V140D	possibly damaging	Het
Pkd1l3	T	C	8: 110,357,708 (GRCm39)	S775P	possibly damaging	Het
Rhobtb1	A	T	10: 69,085,515 (GRCm39)	T85S	probably damaging	Het
Sez6	T	A	11: 77,865,339 (GRCm39)	Y659N	probably damaging	Het
Sfmbt1	T	C	14: 30,539,690 (GRCm39)	L826P	probably damaging	Het
Sftpd	T	A	14: 40,894,471 (GRCm39)	D316V	probably damaging	Het
Shc2	T	C	10: 79,462,204 (GRCm39)	D313G	probably benign	Het
Snrk	T	C	9: 121,986,326 (GRCm39)	Y232H	probably damaging	Het
Sntg1	G	T	1: 8,484,452 (GRCm39)	P456Q	probably benign	Het
Sorbs1	A	T	19: 40,302,841 (GRCm39)	N783K	probably damaging	Het
Stag3	A	T	5: 138,300,810 (GRCm39)	I923F	probably damaging	Het
Tep1	T	A	14: 51,067,712 (GRCm39)	H2168L	possibly damaging	Het
Tmem132c	A	T	5: 127,539,991 (GRCm39)	N339I	possibly damaging	Het
Trim34b	A	G	7: 103,979,139 (GRCm39)	T129A	probably damaging	Het
Ttc21a	T	C	9: 119,785,994 (GRCm39)	L664P	probably damaging	Het
Ubl5	C	T	9: 20,556,923 (GRCm39)	R56*	probably null	Het
Ubox5	G	A	2: 130,441,707 (GRCm39)	R327W	probably damaging	Het
Ubr5	G	T	15: 38,025,138 (GRCm39)	A546E	probably damaging	Het
Umodl1	T	C	17: 31,213,789 (GRCm39)		probably null	Het
Unc45a	T	C	7: 79,982,717 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,101 (GRCm39)	T73I	probably benign	Het
Vmn2r67	T	G	7: 84,805,008 (GRCm39)	N35H	probably benign	Het
Vmn2r74	A	G	7: 85,606,531 (GRCm39)	Y272H	probably benign	Het
Wdr43	T	A	17: 71,933,845 (GRCm39)	D147E	probably damaging	Het
Zfp352	A	T	4: 90,112,367 (GRCm39)	D169V	probably benign	Het
Zim1	A	T	7: 6,691,627 (GRCm39)	N15K	unknown	Het

Other mutations in Ggt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01503:Ggt5	APN	10	75,445,944 (GRCm39)	splice site	probably benign
IGL01926:Ggt5	APN	10	75,439,935 (GRCm39)	missense	probably benign	0.00
IGL02095:Ggt5	APN	10	75,444,637 (GRCm39)	missense	probably benign	0.01
IGL02393:Ggt5	APN	10	75,446,071 (GRCm39)	splice site	probably benign
IGL02515:Ggt5	APN	10	75,425,604 (GRCm39)	missense	probably benign	0.23
IGL02528:Ggt5	APN	10	75,446,254 (GRCm39)	splice site	probably benign
IGL02964:Ggt5	APN	10	75,439,962 (GRCm39)	missense	probably benign	0.08
R0646:Ggt5	UTSW	10	75,438,482 (GRCm39)	missense	probably damaging	0.99
R0834:Ggt5	UTSW	10	75,440,604 (GRCm39)	missense	possibly damaging	0.73
R1454:Ggt5	UTSW	10	75,445,742 (GRCm39)	missense	probably benign	0.01
R1650:Ggt5	UTSW	10	75,440,595 (GRCm39)	missense	probably benign	0.00
R1846:Ggt5	UTSW	10	75,446,376 (GRCm39)	splice site	probably null
R1896:Ggt5	UTSW	10	75,440,560 (GRCm39)	missense	probably damaging	1.00
R2044:Ggt5	UTSW	10	75,439,921 (GRCm39)	missense	probably damaging	0.97
R2357:Ggt5	UTSW	10	75,445,075 (GRCm39)	missense	probably benign	0.19
R3151:Ggt5	UTSW	10	75,445,076 (GRCm39)	missense	probably benign	0.35
R4667:Ggt5	UTSW	10	75,438,865 (GRCm39)	missense	probably damaging	1.00
R4669:Ggt5	UTSW	10	75,438,865 (GRCm39)	missense	probably damaging	1.00
R5060:Ggt5	UTSW	10	75,440,608 (GRCm39)	missense	probably benign
R5756:Ggt5	UTSW	10	75,440,607 (GRCm39)	missense	probably benign
R6156:Ggt5	UTSW	10	75,445,160 (GRCm39)	missense	probably damaging	1.00
R6162:Ggt5	UTSW	10	75,425,626 (GRCm39)	missense	possibly damaging	0.92
R6900:Ggt5	UTSW	10	75,446,371 (GRCm39)	missense	possibly damaging	0.81
R8258:Ggt5	UTSW	10	75,450,666 (GRCm39)	missense	probably benign	0.04
R8259:Ggt5	UTSW	10	75,450,666 (GRCm39)	missense	probably benign	0.04
R9001:Ggt5	UTSW	10	75,445,992 (GRCm39)	missense	probably benign	0.21
R9510:Ggt5	UTSW	10	75,445,139 (GRCm39)	missense	probably benign
R9655:Ggt5	UTSW	10	75,444,635 (GRCm39)	missense	probably benign
Z1088:Ggt5	UTSW	10	75,444,593 (GRCm39)	missense	possibly damaging	0.81
Z1176:Ggt5	UTSW	10	75,438,452 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16