Mutagenetix > Incidental Mutation

Incidental Mutation 'R1896:Ggt5'

211996

Institutional Source

Beutler Lab

Gene Symbol

Ggt5

Ensembl Gene

ENSMUSG00000006344

Gene Name

gamma-glutamyltransferase 5

Synonyms

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

MMRRC Submission

039916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1896 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75425174-75453034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75440560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 227 (V227A)

Ref Sequence

ENSEMBL: ENSMUSP00000072074 (fasta)

Gene Model

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

AlphaFold

Q9Z2A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000072217
AA Change: V227A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344
AA Change: V227A

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

probably benign
Transcript: ENSMUST00000189991

Predicted Effect

probably benign
Transcript: ENSMUST00000218807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219247

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	C	A	2: 26,733,609 (GRCm39)	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,170,306 (GRCm39)	V277G	probably damaging	Het
Adam23	G	A	1: 63,584,731 (GRCm39)	A380T	probably benign	Het
Art2b	A	G	7: 101,229,236 (GRCm39)	V221A	probably benign	Het
Bcam	A	G	7: 19,500,640 (GRCm39)	S153P	probably damaging	Het
Bltp1	C	T	3: 36,962,380 (GRCm39)	Q494*	probably null	Het
C1qtnf1	G	T	11: 118,334,583 (GRCm39)	G21V	probably damaging	Het
Car13	T	C	3: 14,710,235 (GRCm39)	I59T	probably benign	Het
Cep97	T	C	16: 55,748,107 (GRCm39)	N108D	probably damaging	Het
Cog3	T	A	14: 75,979,784 (GRCm39)	E182D	probably benign	Het
Efcab3	A	G	11: 104,611,514 (GRCm39)	K452R	probably benign	Het
Endou	A	G	15: 97,610,873 (GRCm39)	Y404H	probably damaging	Het
F12	T	C	13: 55,568,540 (GRCm39)	Y373C	probably damaging	Het
Fam221b	T	C	4: 43,660,375 (GRCm39)	T405A	probably damaging	Het
Fetub	A	G	16: 22,751,045 (GRCm39)	R131G	probably damaging	Het
Foxp2	A	T	6: 15,379,767 (GRCm39)		probably benign	Het
Gipr	A	G	7: 18,897,996 (GRCm39)	S79P	probably benign	Het
Gphn	A	G	12: 78,459,128 (GRCm39)	D72G	possibly damaging	Het
Gzmk	A	G	13: 113,309,427 (GRCm39)	S208P	probably damaging	Het
Itpkc	T	C	7: 26,907,805 (GRCm39)	D633G	probably damaging	Het
Jarid2	T	C	13: 45,038,358 (GRCm39)		probably null	Het
Kif21b	C	A	1: 136,075,583 (GRCm39)	R237S	possibly damaging	Het
Lama1	G	A	17: 68,098,218 (GRCm39)	R1805H	probably benign	Het
Lpin3	C	T	2: 160,747,218 (GRCm39)	P815S	probably damaging	Het
Lrp1	T	A	10: 127,395,867 (GRCm39)	I2468F	possibly damaging	Het
Nav1	T	C	1: 135,388,475 (GRCm39)	N1118S	probably benign	Het
Ncoa3	T	A	2: 165,890,384 (GRCm39)	I90N	probably benign	Het
Notch3	T	C	17: 32,362,402 (GRCm39)	T1408A	probably benign	Het
Nwd2	A	G	5: 63,962,753 (GRCm39)	D779G	probably benign	Het
Obox6	A	T	7: 15,568,770 (GRCm39)	H35Q	possibly damaging	Het
Pkd1l3	C	A	8: 110,350,831 (GRCm39)	P559T	possibly damaging	Het
Pou2af2	A	G	9: 51,203,098 (GRCm39)	S19P	probably damaging	Het
Pramel23	C	G	4: 143,424,714 (GRCm39)	G243A	probably benign	Het
Prex1	T	A	2: 166,428,574 (GRCm39)	I716F	probably benign	Het
Psap	C	T	10: 60,130,826 (GRCm39)	Q219*	probably null	Het
Rab5if	C	T	2: 156,707,252 (GRCm39)	P64S	probably damaging	Het
Shisa5	T	A	9: 108,885,108 (GRCm39)	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,414,931 (GRCm39)	L21P	probably benign	Het
Slc4a4	A	G	5: 89,194,167 (GRCm39)	T172A	probably damaging	Het
Sned1	C	T	1: 93,192,769 (GRCm39)	P352L	probably benign	Het
Sox4	T	C	13: 29,136,127 (GRCm39)	Y293C	probably damaging	Het
Srgap3	T	A	6: 112,715,958 (GRCm39)	H654L	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Syna	C	A	5: 134,588,006 (GRCm39)	M314I	probably benign	Het
Taf5l	A	G	8: 124,730,152 (GRCm39)	L144P	probably damaging	Het
Tll2	A	G	19: 41,101,498 (GRCm39)	F379L	probably benign	Het
Traf3ip3	A	G	1: 192,858,042 (GRCm39)	V492A	probably benign	Het
Uba2	A	G	7: 33,850,455 (GRCm39)	F364S	probably damaging	Het
Unc50	T	A	1: 37,476,323 (GRCm39)	L161Q	probably damaging	Het
Ush2a	T	C	1: 188,282,206 (GRCm39)	V1907A	probably benign	Het
Uso1	A	T	5: 92,348,992 (GRCm39)		probably null	Het
Utf1	C	A	7: 139,524,213 (GRCm39)	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,490,143 (GRCm39)	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,693,756 (GRCm39)	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,258,055 (GRCm39)	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,973,778 (GRCm39)	R335L	probably damaging	Het
Zbtb26	A	G	2: 37,326,347 (GRCm39)	S230P	possibly damaging	Het
Zfp74	A	T	7: 29,634,569 (GRCm39)	C380S	probably damaging	Het
Zfyve1	A	C	12: 83,602,388 (GRCm39)	V469G	probably damaging	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
IGL02252:Ggt5	APN	10	75,438,566 (GRCm39)	missense	possibly damaging	0.51
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCTGACGATTTCTCTAGGGCTC -3'
(R):5'- AAGGCTAGCAACGATCAGGC -3'

Sequencing Primer
(F):5'- ACGATTTCTCTAGGGCTCTGCAG -3'
(R):5'- ATCTCTGGAGAACCCCGTAGTACTG -3'

Posted On

2014-06-30