Mutagenetix > Incidental Mutation

Incidental Mutation 'R8903:Gss'

678286

Institutional Source

Beutler Lab

Gene Symbol

Gss

Ensembl Gene

ENSMUSG00000027610

Gene Name

glutathione synthetase

Synonyms

GS-A/GS-B

MMRRC Submission

068760-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155405101-155434730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155420279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 141 (K141E)

Ref Sequence

ENSEMBL: ENSMUSP00000078630 (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 damaging
Transcript: ENSMUST00000079691
AA Change: K141E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
AA Change: K141E

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 damaging
Transcript: ENSMUST00000126322
AA Change: K99E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117266
Gene: ENSMUSG00000027610
AA Change: K99E

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

probably damaging
Transcript: ENSMUST00000130881
AA Change: K72E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610
AA Change: K72E

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

probably damaging
Transcript: ENSMUST00000155347
AA Change: K141E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122662
Gene: ENSMUSG00000027610
AA Change: K141E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,815,526 (GRCm39)	F258S	probably damaging	Het
Abca3	A	G	17: 24,602,959 (GRCm39)	Y518C	probably damaging	Het
Ank2	A	T	3: 126,840,431 (GRCm39)	N274K	probably damaging	Het
Ankrd31	C	T	13: 96,969,329 (GRCm39)	L989F	probably damaging	Het
Ano6	A	G	15: 95,825,463 (GRCm39)	R354G	probably benign	Het
Ano8	T	C	8: 71,934,834 (GRCm39)		probably null	Het
Arfgef1	T	C	1: 10,211,838 (GRCm39)	Y1735C	probably damaging	Het
B3gnt8	G	A	7: 25,328,659 (GRCm39)	G363D	probably benign	Het
Calcrl	T	C	2: 84,203,729 (GRCm39)		probably null	Het
Cc2d2b	A	T	19: 40,797,726 (GRCm39)	D782V	unknown	Het
Ccdc162	A	G	10: 41,531,440 (GRCm39)		probably null	Het
Cdkal1	A	T	13: 29,809,918 (GRCm39)	*219R	probably null	Het
Clcnkb	A	T	4: 141,135,160 (GRCm39)	V526D	possibly damaging	Het
Cnbp	A	T	6: 87,821,074 (GRCm39)	C162S	probably damaging	Het
Coq2	A	G	5: 100,811,656 (GRCm39)		probably benign	Het
D6Wsu163e	T	A	6: 126,931,778 (GRCm39)	L270Q	probably damaging	Het
Dennd10	C	T	19: 60,823,423 (GRCm39)	Q353*	probably null	Het
Dnhd1	C	T	7: 105,362,855 (GRCm39)	Q3806*	probably null	Het
Eepd1	T	C	9: 25,394,518 (GRCm39)	F261L	probably benign	Het
Fes	C	T	7: 80,036,559 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,807,681 (GRCm39)	D1333E	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm5113	T	C	7: 29,878,292 (GRCm39)	F127L	probably benign	Het
Grk3	A	G	5: 113,066,697 (GRCm39)	S596P	possibly damaging	Het
Gsk3a	A	G	7: 24,936,814 (GRCm39)	V91A	possibly damaging	Het
Il1rl2	A	T	1: 40,366,530 (GRCm39)		probably null	Het
Kcnmb1	A	G	11: 33,914,825 (GRCm39)	Y42C	probably damaging	Het
Krtap16-1	A	T	11: 99,877,170 (GRCm39)	I78N	probably damaging	Het
Lrp2	C	T	2: 69,379,382 (GRCm39)	S110N	possibly damaging	Het
Lrrfip1	T	A	1: 91,012,781 (GRCm39)		probably benign	Het
Magel2	G	T	7: 62,029,441 (GRCm39)	A782S	unknown	Het
Map1b	C	A	13: 99,569,017 (GRCm39)	E1235*	probably null	Het
Mcpt1	A	C	14: 56,257,520 (GRCm39)	H222P	probably benign	Het
Met	T	A	6: 17,549,137 (GRCm39)	N996K	probably benign	Het
Mia	C	A	7: 26,880,230 (GRCm39)	Q52H	probably damaging	Het
Mia	T	A	7: 26,880,231 (GRCm39)	Q52L	possibly damaging	Het
Myh7	T	A	14: 55,230,228 (GRCm39)	K35*	probably null	Het
Myt1l	T	A	12: 29,861,468 (GRCm39)	D83E	unknown	Het
Nbl1	A	G	4: 138,810,861 (GRCm39)	V111A	probably damaging	Het
Nid1	T	A	13: 13,638,515 (GRCm39)	V145D	probably benign	Het
Nif3l1	C	T	1: 58,486,653 (GRCm39)		probably benign	Het
Npnt	T	C	3: 132,591,764 (GRCm39)	Y500C	probably damaging	Het
Nubpl	T	A	12: 52,144,676 (GRCm39)		probably null	Het
Nxpe4	T	A	9: 48,310,250 (GRCm39)	D504E	probably damaging	Het
Obsl1	A	G	1: 75,463,917 (GRCm39)	V1696A	possibly damaging	Het
Or56a3	A	T	7: 104,735,329 (GRCm39)	R135S	possibly damaging	Het
Or8s2	A	T	15: 98,276,475 (GRCm39)	I172N	probably damaging	Het
P2rx1	A	T	11: 72,900,821 (GRCm39)	H224L	probably benign	Het
Pald1	A	T	10: 61,182,815 (GRCm39)		probably null	Het
Pard6g	C	T	18: 80,160,411 (GRCm39)	R175*	probably null	Het
Pisd	A	G	5: 32,895,755 (GRCm39)	I271T	probably benign	Het
Prrt3	T	C	6: 113,472,796 (GRCm39)	S459G	probably damaging	Het
Psd3	A	T	8: 68,165,945 (GRCm39)	C328S	unknown	Het
Psme1	A	G	14: 55,817,853 (GRCm39)	E120G		Het
Pum3	A	T	19: 27,397,457 (GRCm39)	M306K	possibly damaging	Het
Pxdn	T	C	12: 30,040,992 (GRCm39)	F423L	probably benign	Het
Rac3	A	G	11: 120,614,071 (GRCm39)	D118G	probably damaging	Het
Rnf14	A	G	18: 38,446,267 (GRCm39)	K357E	probably benign	Het
Rpl23a	T	C	11: 78,073,720 (GRCm39)	I40V	probably benign	Het
Slc5a5	A	T	8: 71,345,227 (GRCm39)	S27T	probably damaging	Het
Slc7a14	A	T	3: 31,277,595 (GRCm39)	L670Q	probably damaging	Het
Snorc	C	T	1: 87,402,826 (GRCm39)	T52I	probably damaging	Het
Sst	T	A	16: 23,708,499 (GRCm39)	K111*	probably null	Het
Stxbp4	A	G	11: 90,426,267 (GRCm39)	S514P	unknown	Het
Susd1	T	A	4: 59,390,576 (GRCm39)	T300S	probably benign	Het
Tecpr1	C	T	5: 144,150,845 (GRCm39)		probably benign	Het
Tmem185b	C	T	1: 119,454,198 (GRCm39)		probably benign	Het
Tor2a	T	A	2: 32,651,699 (GRCm39)	F305I	probably damaging	Het
Ttk	T	A	9: 83,750,113 (GRCm39)	D689E	probably damaging	Het
Tut4	A	T	4: 108,336,408 (GRCm39)	D44V	probably damaging	Het
Usp25	A	G	16: 76,878,421 (GRCm39)	D615G	probably damaging	Het
Vmn1r209	A	G	13: 22,990,684 (GRCm39)	V2A	probably benign	Het
Vmn2r80	A	C	10: 79,017,928 (GRCm39)	E551A	probably damaging	Het
Wac	G	T	18: 7,926,104 (GRCm39)	E636*	probably null	Het
Wdr53	T	A	16: 32,071,130 (GRCm39)	D158E	probably damaging	Het
Zbtb7c	T	C	18: 76,270,152 (GRCm39)	V80A	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
R6017:Gss	UTSW	2	155,429,385 (GRCm39)	missense	probably benign
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
R9038:Gss	UTSW	2	155,406,794 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TCAGGGTCTAGGAAGGTACAGC -3'
(R):5'- TCTGACCAGTCTTTACCGGG -3'

Sequencing Primer
(F):5'- CCAAGGTAAGAGATCTCTGGCTTAGC -3'
(R):5'- CCTGGGATGACAGAATGATGCTTC -3'

Posted On

2021-08-02