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

155563181-155592810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 155587465 bp (GRCm38)

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

noncoding transcript
Transcript: ENSMUST00000153975

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: ENSMUST00000157008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176415

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
9030624J02Rik	T	A	7: 118,809,921 (GRCm38)	V635D	probably damaging	Het
Adgb	T	C	10: 10,450,036 (GRCm38)	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,397,423 (GRCm38)	L5581*	probably null	Het
Arpc2	C	A	1: 74,262,486 (GRCm38)	H193N	probably benign	Het
B3galt5	A	G	16: 96,315,184 (GRCm38)	T6A	probably benign	Het
Bod1l	A	T	5: 41,818,760 (GRCm38)	V1737E	probably benign	Het
Cacfd1	T	G	2: 27,013,428 (GRCm38)		probably benign	Het
Cdc42ep4	A	T	11: 113,729,366 (GRCm38)	D66E	probably benign	Het
Cldn1	G	T	16: 26,363,219 (GRCm38)	T80N	probably damaging	Het
Cmtm1	C	A	8: 104,310,951 (GRCm38)		probably benign	Het
Cntnap5c	A	T	17: 58,104,698 (GRCm38)	I526F	probably benign	Het
Copb1	T	C	7: 114,236,797 (GRCm38)	K450E	probably benign	Het
Crebrf	A	C	17: 26,757,849 (GRCm38)	I416L	probably benign	Het
Csmd3	C	A	15: 48,314,012 (GRCm38)	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,681,030 (GRCm38)	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,790,573 (GRCm38)	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,326,279 (GRCm38)	C198*	probably null	Het
Ddx11	A	G	17: 66,130,017 (GRCm38)	D102G		Het
Dpys	T	A	15: 39,846,718 (GRCm38)	Q105L	probably null	Het
Dsn1	C	A	2: 156,996,242 (GRCm38)	R334L	probably damaging	Het
Eml2	G	A	7: 19,201,163 (GRCm38)	V432I	probably damaging	Het
Epha8	G	T	4: 136,931,743 (GRCm38)	H867N	probably damaging	Het
Ephb3	T	C	16: 21,222,031 (GRCm38)	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,158,553 (GRCm38)	H83Q	probably benign	Het
Gm13102	T	C	4: 144,109,237 (GRCm38)	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,057,278 (GRCm38)	T82A	probably benign	Het
Hepacam	A	G	9: 37,380,760 (GRCm38)	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332 (GRCm38)	V226F	probably damaging	Het
Hgfac	T	C	5: 35,044,395 (GRCm38)	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,797,267 (GRCm38)	R88H	probably benign	Het
Irx5	T	A	8: 92,358,250 (GRCm38)	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,175,081 (GRCm38)	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,394,104 (GRCm38)		probably benign	Het
Kcnk12	T	C	17: 87,746,736 (GRCm38)	E166G	probably damaging	Het
Kctd16	T	C	18: 40,258,943 (GRCm38)	C195R	probably damaging	Het
Kif28	T	A	1: 179,699,453 (GRCm38)	I718F	probably benign	Het
Lce1e	T	A	3: 92,707,933 (GRCm38)	K36*	probably null	Het
Map4	T	C	9: 110,034,619 (GRCm38)	L304P	probably benign	Het
Mettl17	C	T	14: 51,891,617 (GRCm38)		probably benign	Het
Mpp4	T	C	1: 59,121,359 (GRCm38)	D595G	probably damaging	Het
Myo18a	A	G	11: 77,841,523 (GRCm38)	K1282E	probably damaging	Het
Nf2	A	T	11: 4,816,137 (GRCm38)	V131D	possibly damaging	Het
Or7g35	T	C	9: 19,585,434 (GRCm38)	V299A	probably benign	Het
Or8b3	A	T	9: 38,403,620 (GRCm38)	M249L	probably benign	Het
Oxsr1	A	G	9: 119,264,777 (GRCm38)	L270S	probably benign	Het
Plekhg2	G	A	7: 28,362,884 (GRCm38)	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363 (GRCm38)	V306D	probably benign	Het
Ptk6	C	T	2: 181,195,812 (GRCm38)	C438Y	probably benign	Het
Scfd1	T	C	12: 51,445,678 (GRCm38)	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,729,272 (GRCm38)	S337P	probably damaging	Het
Skor2	T	A	18: 76,858,927 (GRCm38)	C115S	unknown	Het
Slc2a7	T	C	4: 150,165,172 (GRCm38)	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,648,254 (GRCm38)	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,035,079 (GRCm38)	D145G	possibly damaging	Het
Spata6	C	A	4: 111,774,827 (GRCm38)	T145K	probably damaging	Het
Stab1	C	T	14: 31,141,544 (GRCm38)	R2087H	probably benign	Het
Stk24	C	T	14: 121,302,245 (GRCm38)	V180M	probably benign	Het
Trrap	A	G	5: 144,844,241 (GRCm38)	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,816,666 (GRCm38)	W755R	probably damaging	Het
Ush2a	T	C	1: 188,957,514 (GRCm38)		probably null	Het
Uts2b	T	C	16: 27,361,043 (GRCm38)		probably null	Het
Vmn2r105	T	A	17: 20,208,627 (GRCm38)	H729L	probably damaging	Het
Wdfy3	T	C	5: 101,851,359 (GRCm38)	I3068V	probably benign	Het
Zfp457	G	A	13: 67,293,699 (GRCm38)	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,373,731 (GRCm38)	D40G	probably damaging	Het

Other mutations in Gss

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Gss	APN	2	155,581,951 (GRCm38)	missense	probably damaging	1.00
IGL01737:Gss	APN	2	155,567,806 (GRCm38)	missense	probably damaging	1.00
IGL01783:Gss	APN	2	155,571,559 (GRCm38)	missense	probably damaging	1.00
IGL02329:Gss	APN	2	155,567,853 (GRCm38)	missense	probably benign	0.01
IGL02386:Gss	APN	2	155,573,170 (GRCm38)	missense	probably benign	0.01
IGL02948:Gss	APN	2	155,577,621 (GRCm38)	missense	probably damaging	1.00
PIT4515001:Gss	UTSW	2	155,578,341 (GRCm38)	missense	probably damaging	1.00
R0230:Gss	UTSW	2	155,578,406 (GRCm38)	missense	probably damaging	1.00
R0446:Gss	UTSW	2	155,567,745 (GRCm38)	missense	probably benign	0.00
R0931:Gss	UTSW	2	155,567,689 (GRCm38)	intron	probably benign
R1396:Gss	UTSW	2	155,567,721 (GRCm38)	missense	probably damaging	0.99
R2896:Gss	UTSW	2	155,564,829 (GRCm38)	missense	probably damaging	1.00
R2986:Gss	UTSW	2	155,587,443 (GRCm38)	missense	probably benign	0.21
R4852:Gss	UTSW	2	155,564,865 (GRCm38)	missense	probably benign	0.06
R5148:Gss	UTSW	2	155,573,109 (GRCm38)	missense	possibly damaging	0.80
R6574:Gss	UTSW	2	155,582,011 (GRCm38)	missense	probably damaging	1.00
R6868:Gss	UTSW	2	155,567,812 (GRCm38)	missense	possibly damaging	0.69
R8274:Gss	UTSW	2	155,587,504 (GRCm38)	missense	probably benign	0.00
R8510:Gss	UTSW	2	155,567,824 (GRCm38)	nonsense	probably null
R8801:Gss	UTSW	2	155,564,766 (GRCm38)	missense	probably damaging	1.00
R8903:Gss	UTSW	2	155,578,359 (GRCm38)	missense	probably damaging	0.99
R9038:Gss	UTSW	2	155,564,874 (GRCm38)	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