Mutagenetix > Incidental Mutation

Incidental Mutation 'R6017:Gss'

478623

Institutional Source

Beutler Lab

Gene Symbol

Gss

Ensembl Gene

ENSMUSG00000027610

Gene Name

glutathione synthetase

Synonyms

GS-A/GS-B

MMRRC Submission

044191-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6017 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

155405101-155434730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 155429385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 36 (A36S)

Ref Sequence

ENSEMBL: ENSMUSP00000122662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065973] [ENSMUST00000079691] [ENSMUST00000126322] [ENSMUST00000130881] [ENSMUST00000155347]

AlphaFold

P51855

Predicted Effect

probably benign
Transcript: ENSMUST00000065973

SMART Domains

Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	108	575	4.8e-98	PFAM
Pfam:AMP-binding_C	583	660	3.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079691
AA Change: A36S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
AA Change: A36S

Domain	Start	End	E-Value	Type
Pfam:GSH_synth_ATP	12	472	6.7e-131	PFAM
Pfam:GSH_synthase	204	302	2.5e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126322

SMART Domains

Protein: ENSMUSP00000117266
Gene: ENSMUSG00000027610

Domain	Start	End	E-Value	Type
Pfam:GSH_synth_ATP	1	197	1.2e-63	PFAM
Pfam:GSH_synthase	160	200	3.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130859

Predicted Effect

probably benign
Transcript: ENSMUST00000130881

SMART Domains

Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610

Domain	Start	End	E-Value	Type
Pfam:GSH_synth_ATP	1	404	9.2e-130	PFAM
Pfam:GSH_synthase	133	233	9e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142509

Predicted Effect

probably benign
Transcript: ENSMUST00000155347
AA Change: A36S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122662
Gene: ENSMUSG00000027610
AA Change: A36S

Domain	Start	End	E-Value	Type
Pfam:GSH_synth_ATP	5	179	1.8e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157008

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation all die before E7.5. [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
Adgb	T	C	10: 10,325,780 (GRCm39)	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,545,542 (GRCm39)	L5581*	probably null	Het
Arpc2	C	A	1: 74,301,645 (GRCm39)	H193N	probably benign	Het
B3galt5	A	G	16: 96,116,384 (GRCm39)	T6A	probably benign	Het
Bod1l	A	T	5: 41,976,103 (GRCm39)	V1737E	probably benign	Het
Cacfd1	T	G	2: 26,903,440 (GRCm39)		probably benign	Het
Cdc42ep4	A	T	11: 113,620,192 (GRCm39)	D66E	probably benign	Het
Cldn1	G	T	16: 26,181,969 (GRCm39)	T80N	probably damaging	Het
Cmtm1	C	A	8: 105,037,583 (GRCm39)		probably benign	Het
Cntnap5c	A	T	17: 58,411,693 (GRCm39)	I526F	probably benign	Het
Copb1	T	C	7: 113,836,032 (GRCm39)	K450E	probably benign	Het
Crebrf	A	C	17: 26,976,823 (GRCm39)	I416L	probably benign	Het
Csmd3	C	A	15: 48,177,408 (GRCm39)	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,588,313 (GRCm39)	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,674,774 (GRCm39)	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,183,476 (GRCm39)	C198*	probably null	Het
Ddx11	A	G	17: 66,437,012 (GRCm39)	D102G		Het
Dpys	T	A	15: 39,710,114 (GRCm39)	Q105L	probably null	Het
Dsn1	C	A	2: 156,838,162 (GRCm39)	R334L	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha8	G	T	4: 136,659,054 (GRCm39)	H867N	probably damaging	Het
Ephb3	T	C	16: 21,040,781 (GRCm39)	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,243,010 (GRCm39)	H83Q	probably benign	Het
Gm13102	T	C	4: 143,835,807 (GRCm39)	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,262,276 (GRCm39)	T82A	probably benign	Het
Hepacam	A	G	9: 37,292,056 (GRCm39)	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332 (GRCm39)	V226F	probably damaging	Het
Hgfac	T	C	5: 35,201,739 (GRCm39)	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,674,466 (GRCm39)	R88H	probably benign	Het
Irx5	T	A	8: 93,084,878 (GRCm39)	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,225,082 (GRCm39)	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,305,400 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,054,164 (GRCm39)	E166G	probably damaging	Het
Kctd16	T	C	18: 40,391,996 (GRCm39)	C195R	probably damaging	Het
Kif28	T	A	1: 179,527,018 (GRCm39)	I718F	probably benign	Het
Lce1e	T	A	3: 92,615,240 (GRCm39)	K36*	probably null	Het
Map4	T	C	9: 109,863,687 (GRCm39)	L304P	probably benign	Het
Mettl17	C	T	14: 52,129,074 (GRCm39)		probably benign	Het
Mpp4	T	C	1: 59,160,518 (GRCm39)	D595G	probably damaging	Het
Myo18a	A	G	11: 77,732,349 (GRCm39)	K1282E	probably damaging	Het
Nf2	A	T	11: 4,766,137 (GRCm39)	V131D	possibly damaging	Het
Or7g35	T	C	9: 19,496,730 (GRCm39)	V299A	probably benign	Het
Or8b3	A	T	9: 38,314,916 (GRCm39)	M249L	probably benign	Het
Oxsr1	A	G	9: 119,093,843 (GRCm39)	L270S	probably benign	Het
Plekhg2	G	A	7: 28,062,309 (GRCm39)	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363 (GRCm39)	V306D	probably benign	Het
Ptk6	C	T	2: 180,837,605 (GRCm39)	C438Y	probably benign	Het
Scfd1	T	C	12: 51,492,461 (GRCm39)	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,695,531 (GRCm39)	S337P	probably damaging	Het
Skor2	T	A	18: 76,946,622 (GRCm39)	C115S	unknown	Het
Slc2a7	T	C	4: 150,249,629 (GRCm39)	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,955,683 (GRCm39)	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,182,893 (GRCm39)	D145G	possibly damaging	Het
Spata6	C	A	4: 111,632,024 (GRCm39)	T145K	probably damaging	Het
Stab1	C	T	14: 30,863,501 (GRCm39)	R2087H	probably benign	Het
Stk24	C	T	14: 121,539,657 (GRCm39)	V180M	probably benign	Het
Trrap	A	G	5: 144,781,051 (GRCm39)	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,647,147 (GRCm39)	W755R	probably damaging	Het
Ush2a	T	C	1: 188,689,711 (GRCm39)		probably null	Het
Uts2b	T	C	16: 27,179,793 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,889 (GRCm39)	H729L	probably damaging	Het
Vps35l	T	A	7: 118,409,144 (GRCm39)	V635D	probably damaging	Het
Wdfy3	T	C	5: 101,999,225 (GRCm39)	I3068V	probably benign	Het
Zfp457	G	A	13: 67,441,763 (GRCm39)	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,592,712 (GRCm39)	D40G	probably damaging	Het

Other mutations in Gss

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Gss	APN	2	155,423,871 (GRCm39)	missense	probably damaging	1.00
IGL01737:Gss	APN	2	155,409,726 (GRCm39)	missense	probably damaging	1.00
IGL01783:Gss	APN	2	155,413,479 (GRCm39)	missense	probably damaging	1.00
IGL02329:Gss	APN	2	155,409,773 (GRCm39)	missense	probably benign	0.01
IGL02386:Gss	APN	2	155,415,090 (GRCm39)	missense	probably benign	0.01
IGL02948:Gss	APN	2	155,419,541 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Gss	UTSW	2	155,420,261 (GRCm39)	missense	probably damaging	1.00
R0230:Gss	UTSW	2	155,420,326 (GRCm39)	missense	probably damaging	1.00
R0446:Gss	UTSW	2	155,409,665 (GRCm39)	missense	probably benign	0.00
R0931:Gss	UTSW	2	155,409,609 (GRCm39)	intron	probably benign
R1396:Gss	UTSW	2	155,409,641 (GRCm39)	missense	probably damaging	0.99
R2896:Gss	UTSW	2	155,406,749 (GRCm39)	missense	probably damaging	1.00
R2986:Gss	UTSW	2	155,429,363 (GRCm39)	missense	probably benign	0.21
R4852:Gss	UTSW	2	155,406,785 (GRCm39)	missense	probably benign	0.06
R5148:Gss	UTSW	2	155,415,029 (GRCm39)	missense	possibly damaging	0.80
R6574:Gss	UTSW	2	155,423,931 (GRCm39)	missense	probably damaging	1.00
R6868:Gss	UTSW	2	155,409,732 (GRCm39)	missense	possibly damaging	0.69
R8274:Gss	UTSW	2	155,429,424 (GRCm39)	missense	probably benign	0.00
R8510:Gss	UTSW	2	155,409,744 (GRCm39)	nonsense	probably null
R8801:Gss	UTSW	2	155,406,686 (GRCm39)	missense	probably damaging	1.00
R8903:Gss	UTSW	2	155,420,279 (GRCm39)	missense	probably damaging	0.99
R9038:Gss	UTSW	2	155,406,794 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CACCTTACGGAAATTAAGTAGCTGC -3'
(R):5'- GTTGGAAGTAGCCACATTTGGG -3'

Sequencing Primer
(F):5'- CACTTCAAACCACAGATTTTAGTGTG -3'
(R):5'- CACATTTGGGTGGCTGCTGC -3'

Posted On

2017-06-26