Mutagenetix > Incidental Mutations

Incidental Mutation 'R4669:Ggt5'

352286

Institutional Source

Beutler Lab

Gene Symbol

Ggt5

Ensembl Gene

ENSMUSG00000006344

Gene Name

gamma-glutamyltransferase 5

Synonyms

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

MMRRC Submission

041925-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75589340-75617200 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75603031 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 121 (L121P)

Ref Sequence

ENSEMBL: ENSMUSP00000151283 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000072217
AA Change: L121P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344
AA Change: L121P

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: L93P

Predicted Effect

probably damaging
Transcript: ENSMUST00000218807
AA Change: L121P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219247

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,990,627	L147P	probably damaging	Het
Acan	A	G	7: 79,101,142	E464G	probably benign	Het
Agap1	A	G	1: 89,837,806		probably null	Het
Akap13	A	G	7: 75,729,094	T2128A	probably damaging	Het
Ap2a1	A	T	7: 44,902,919		probably benign	Het
Arap3	T	C	18: 37,996,254	D217G	probably benign	Het
Arl2	C	A	19: 6,134,686	R179L	probably damaging	Het
Atg2a	T	A	19: 6,258,987		probably null	Het
B3gat1	T	A	9: 26,751,756	L6Q	probably benign	Het
Bcl10	A	G	3: 145,930,572	N75S	probably damaging	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Brms1l	A	G	12: 55,841,571	E48G	possibly damaging	Het
C2cd2l	A	T	9: 44,315,025	N414K	possibly damaging	Het
Capn2	C	T	1: 182,470,780	C640Y	probably benign	Het
Ccdc153	G	T	9: 44,245,724	R99M	probably damaging	Het
Ccdc51	A	G	9: 109,090,962	N142S	probably benign	Het
Ccdc58	A	G	16: 36,082,719	D27G	probably damaging	Het
Cdipt	A	G	7: 126,978,406	H108R	possibly damaging	Het
Ceacam20	T	C	7: 19,986,027	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Cts3	C	T	13: 61,566,823	E223K	probably benign	Het
Cyp2a22	T	C	7: 26,937,855	D168G	possibly damaging	Het
Cyp2c67	T	A	19: 39,643,654	H90L	probably benign	Het
Ddx4	T	C	13: 112,622,244	Y261C	probably damaging	Het
Dnah17	T	C	11: 118,074,293	T2308A	probably benign	Het
Dnah6	T	C	6: 73,037,688	T3587A	probably damaging	Het
Dpy19l1	C	T	9: 24,432,368	V494I	possibly damaging	Het
Dse	T	G	10: 34,153,012	Y694S	probably damaging	Het
Emilin3	T	C	2: 160,910,797	I78V	probably benign	Het
Esam	T	A	9: 37,536,656	Y195*	probably null	Het
Extl3	T	A	14: 65,076,296	N479I	possibly damaging	Het
Fat2	A	G	11: 55,311,615	V211A	probably benign	Het
Ganc	G	T	2: 120,431,067	V343F	probably benign	Het
Gnmt	A	T	17: 46,726,299	C186*	probably null	Het
Gpr75	A	T	11: 30,892,072	I326F	probably damaging	Het
Gsdme	C	T	6: 50,208,122	V451M	probably damaging	Het
H2-T23	G	T	17: 36,031,798	D149E	probably damaging	Het
Hmcn2	G	T	2: 31,435,792	R4277L	probably benign	Het
Irf9	C	A	14: 55,605,766	H94N	probably benign	Het
Jhy	T	C	9: 40,961,153	N20S	probably benign	Het
Klf17	C	A	4: 117,760,371	C263F	probably damaging	Het
Lama5	T	C	2: 180,180,637	Y2881C	probably damaging	Het
Lig1	T	G	7: 13,311,028	I882S	probably damaging	Het
Ltn1	A	T	16: 87,418,487	M420K	possibly damaging	Het
Mael	T	C	1: 166,235,508	E125G	probably damaging	Het
Mib2	C	T	4: 155,657,415	D275N	possibly damaging	Het
Mical3	C	T	6: 120,957,703	R1805Q	probably damaging	Het
Mllt10	A	G	2: 18,203,633	D158G	probably damaging	Het
Mocs1	A	G	17: 49,454,585	D569G	possibly damaging	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Mtmr2	T	C	9: 13,795,964	S199P	probably damaging	Het
Ndufaf5	T	C	2: 140,187,755	V164A	probably benign	Het
Nek9	T	C	12: 85,314,204	E518G	probably benign	Het
Nfatc2	T	C	2: 168,571,490	I72V	probably benign	Het
Nlrp9c	C	T	7: 26,375,368	A746T	possibly damaging	Het
Nupl2	A	G	5: 24,182,417	R402G	probably benign	Het
Ogdh	G	T	11: 6,340,600	C406F	probably benign	Het
Olfr1045	A	T	2: 86,197,933	M273K	possibly damaging	Het
Olfr1225	G	A	2: 89,170,901	H104Y	probably damaging	Het
Olfr146	T	A	9: 39,019,379	Y54F	probably benign	Het
Olfr411	A	G	11: 74,346,963	V207A	probably benign	Het
Olfr881	A	T	9: 37,993,085	I198F	possibly damaging	Het
Otof	A	G	5: 30,420,974		probably null	Het
Pcdhb17	T	C	18: 37,486,206	S350P	probably damaging	Het
Phf3	T	C	1: 30,829,946	T674A	probably damaging	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Ppfia3	T	C	7: 45,352,093	E465G	probably damaging	Het
Prkg1	T	A	19: 31,664,239	I15F	probably damaging	Het
Rab5c	A	G	11: 100,720,017	F22L	probably damaging	Het
Raf1	A	G	6: 115,632,919	S220P	probably damaging	Het
Rgl1	T	G	1: 152,521,371	R716S	probably damaging	Het
Rhbg	C	A	3: 88,245,966	W205L	probably damaging	Het
Rimbp3	A	G	16: 17,209,189	E159G	possibly damaging	Het
Ryr1	T	C	7: 29,059,831	D3338G	probably null	Het
Sash1	T	C	10: 8,730,385	N747S	probably benign	Het
Serpina3g	A	T	12: 104,239,220	I73F	probably damaging	Het
Sfxn2	C	A	19: 46,585,774	N134K	probably damaging	Het
Slc12a6	A	G	2: 112,354,295	H853R	probably damaging	Het
Slc16a12	C	T	19: 34,672,565	D357N	probably damaging	Het
Slc39a8	T	C	3: 135,856,011	Y164H	probably benign	Het
Snx9	A	G	17: 5,927,224	K518E	probably damaging	Het
Spdye4c	G	A	2: 128,592,353	V5I	possibly damaging	Het
Spef2	A	G	15: 9,676,373	V704A	probably benign	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Strap	C	A	6: 137,735,386	S11*	probably null	Het
Synpo2	A	G	3: 123,113,063	L868P	probably damaging	Het
Tenm2	A	G	11: 36,010,487	V2474A	probably damaging	Het
Tm9sf4	T	A	2: 153,187,308	V92D	probably damaging	Het
Tmf1	A	T	6: 97,170,427	M526K	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttc39d	A	G	17: 80,217,639	I576V	probably benign	Het
Upk1a	T	G	7: 30,605,129	T193P	probably benign	Het
Vmn2r67	A	T	7: 85,150,524	V502E	probably benign	Het
Wdr17	A	G	8: 54,690,048	V189A	possibly damaging	Het
Wrap73	A	T	4: 154,151,696	S161C	probably benign	Het
Zfp568	A	G	7: 30,023,277	H549R	probably damaging	Het
Zfp605	T	A	5: 110,127,361	M115K	possibly damaging	Het
Zp1	T	A	19: 10,918,905	H152L	probably benign	Het

Other mutations in Ggt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01503:Ggt5	APN	10	75610110	splice site	probably benign
IGL01926:Ggt5	APN	10	75604101	missense	probably benign	0.00
IGL02095:Ggt5	APN	10	75608803	missense	probably benign	0.01
IGL02252:Ggt5	APN	10	75602732	missense	possibly damaging	0.51
IGL02393:Ggt5	APN	10	75610237	splice site	probably benign
IGL02515:Ggt5	APN	10	75589770	missense	probably benign	0.23
IGL02528:Ggt5	APN	10	75610420	splice site	probably benign
IGL02964:Ggt5	APN	10	75604128	missense	probably benign	0.08
R0646:Ggt5	UTSW	10	75602648	missense	probably damaging	0.99
R0834:Ggt5	UTSW	10	75604770	missense	possibly damaging	0.73
R1454:Ggt5	UTSW	10	75609908	missense	probably benign	0.01
R1650:Ggt5	UTSW	10	75604761	missense	probably benign	0.00
R1846:Ggt5	UTSW	10	75610542	splice site	probably null
R1896:Ggt5	UTSW	10	75604726	missense	probably damaging	1.00
R2044:Ggt5	UTSW	10	75604087	missense	probably damaging	0.97
R2357:Ggt5	UTSW	10	75609241	missense	probably benign	0.19
R3151:Ggt5	UTSW	10	75609242	missense	probably benign	0.35
R4667:Ggt5	UTSW	10	75603031	missense	probably damaging	1.00
R5060:Ggt5	UTSW	10	75604774	missense	probably benign
R5756:Ggt5	UTSW	10	75604773	missense	probably benign
R6156:Ggt5	UTSW	10	75609326	missense	probably damaging	1.00
R6162:Ggt5	UTSW	10	75589792	missense	possibly damaging	0.92
R6900:Ggt5	UTSW	10	75610537	missense	possibly damaging	0.81
R8258:Ggt5	UTSW	10	75614832	missense	probably benign	0.04
R8259:Ggt5	UTSW	10	75614832	missense	probably benign	0.04
Z1088:Ggt5	UTSW	10	75608759	missense	possibly damaging	0.81
Z1176:Ggt5	UTSW	10	75602618	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCTCTGTTGTGTGAAGCCC -3'
(R):5'- ATGAGACATACTGACCCTTTGTGG -3'

Sequencing Primer
(F):5'- AAGCCCTGGTGGTAGGTAGC -3'
(R):5'- ATTTCTGAGTTCAAGGCTAGCC -3'

Posted On

2015-10-08