Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4515001:Gss'

556293

Institutional Source

Beutler Lab

Gene Symbol

Gss

Ensembl Gene

ENSMUSG00000027610

Gene Name

glutathione synthetase

Synonyms

GS-A/GS-B

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4515001 (G1)

Quality Score

149.008

Status

Not validated

Chromosome

Chromosomal Location

155405101-155434730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155420261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 147 (T147S)

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: T147S

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

SMART Domains

Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
AA Change: T147S

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: T105S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117266
Gene: ENSMUSG00000027610
AA Change: T105S

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: T78S

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

SMART Domains

Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610
AA Change: T78S

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: T147S

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

SMART Domains

Protein: ENSMUSP00000122662
Gene: ENSMUSG00000027610
AA Change: T147S

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

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 86.0%
20x: 75.1%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,068 (GRCm39)	R966*	probably null	Het
Adam32	A	T	8: 25,404,342 (GRCm39)	I221K	possibly damaging	Het
Adcy6	T	C	15: 98,493,027 (GRCm39)	T880A	probably benign	Het
Agpat5	T	A	8: 18,896,657 (GRCm39)	Y28N	probably damaging	Het
Atg2a	A	G	19: 6,303,615 (GRCm39)	I1125V	probably damaging	Het
B4galt6	A	G	18: 20,821,524 (GRCm39)	Y335H	probably benign	Het
Bend3	A	T	10: 43,386,630 (GRCm39)	E341V	probably damaging	Het
Bltp1	T	A	3: 37,028,385 (GRCm39)	Y2351N	probably damaging	Het
Ccdc136	T	A	6: 29,417,225 (GRCm39)	V682E	probably benign	Het
Ccdc142	T	C	6: 83,080,238 (GRCm39)	C394R	probably benign	Het
Cfap58	A	G	19: 48,023,122 (GRCm39)	N845D	probably benign	Het
Col4a3	G	A	1: 82,660,024 (GRCm39)	G890R	unknown	Het
Cyp1a2	C	A	9: 57,589,242 (GRCm39)	V191L	probably benign	Het
Cyp51	A	T	5: 4,149,122 (GRCm39)		probably null	Het
Diras2	T	C	13: 52,661,783 (GRCm39)	S175G	possibly damaging	Het
Dnah6	A	G	6: 73,091,565 (GRCm39)	F2242S	probably damaging	Het
Erg	T	A	16: 95,210,619 (GRCm39)	N78Y	probably benign	Het
Fdft1	T	A	14: 63,402,032 (GRCm39)	Q49L	probably benign	Het
Frem1	G	T	4: 82,818,663 (GRCm39)	H2183Q	probably damaging	Het
Fut2	G	A	7: 45,299,890 (GRCm39)	T294I	probably damaging	Het
Gabrb1	A	C	5: 71,858,160 (GRCm39)	D62A	probably damaging	Het
Gbe1	T	A	16: 70,238,004 (GRCm39)	Y263*	probably null	Het
Gimap6	T	C	6: 48,679,502 (GRCm39)	D178G	probably benign	Het
Hlcs	A	T	16: 94,068,275 (GRCm39)	V315E	probably benign	Het
Hoxa3	C	T	6: 52,147,164 (GRCm39)	G363E	unknown	Het
Ift140	A	G	17: 25,305,834 (GRCm39)	N807S	probably damaging	Het
Iglc1	T	G	16: 18,880,701 (GRCm39)	D40A		Het
Itga10	T	A	3: 96,569,948 (GRCm39)	I1120N	probably damaging	Het
Jak3	T	C	8: 72,132,286 (GRCm39)	V217A	probably benign	Het
Kank2	T	G	9: 21,706,179 (GRCm39)	I280L	probably benign	Het
Kcnk1	G	T	8: 126,752,081 (GRCm39)	G229V	probably damaging	Het
Kpna7	T	C	5: 144,941,862 (GRCm39)	T143A	probably benign	Het
Letmd1	C	T	15: 100,374,683 (GRCm39)	R310C	probably damaging	Het
Mga	G	A	2: 119,746,985 (GRCm39)	V379I	probably damaging	Het
Mto1	T	A	9: 78,364,699 (GRCm39)	Y313N	probably damaging	Het
Muc5ac	G	A	7: 141,361,153 (GRCm39)	C1488Y	probably damaging	Het
Nde1	T	A	16: 13,988,357 (GRCm39)		probably null	Het
Nfatc3	T	C	8: 106,805,835 (GRCm39)	S235P	possibly damaging	Het
Nup88	T	C	11: 70,835,547 (GRCm39)	D602G	probably benign	Het
Or11g25	T	A	14: 50,723,536 (GRCm39)	M207K	probably benign	Het
Or2h1b	A	C	17: 37,462,270 (GRCm39)	S198A	probably benign	Het
Pcnx1	G	A	12: 82,038,561 (GRCm39)	C1309Y		Het
Phldb1	A	G	9: 44,627,257 (GRCm39)	I396T	probably benign	Het
Pramel38	T	C	5: 94,368,831 (GRCm39)	M442T	probably benign	Het
Pramel41	A	C	5: 94,594,694 (GRCm39)	K185Q	probably benign	Het
Prss53	G	A	7: 127,487,963 (GRCm39)	T173I	probably benign	Het
Ptpn11	C	A	5: 121,302,617 (GRCm39)	D156Y	probably damaging	Het
Rfx8	A	G	1: 39,729,265 (GRCm39)	Y167H	probably benign	Het
Rpsa	T	A	9: 119,960,214 (GRCm39)	I259N	probably benign	Het
Rrm2b	G	T	15: 37,947,048 (GRCm39)	D84E	probably benign	Het
Scgb2b19	A	T	7: 32,979,036 (GRCm39)		probably null	Het
Sik3	T	C	9: 46,120,029 (GRCm39)	L706P	probably damaging	Het
Slc4a4	A	T	5: 89,281,112 (GRCm39)	E426D	probably damaging	Het
Slc8a2	C	A	7: 15,874,504 (GRCm39)	L251I	possibly damaging	Het
Taf6	T	C	5: 138,180,504 (GRCm39)	K287E	probably benign	Het
Tiam1	G	A	16: 89,657,130 (GRCm39)	T702I	probably damaging	Het
Tle1	A	T	4: 72,117,556 (GRCm39)	F35I	possibly damaging	Het
Tle2	A	G	10: 81,422,964 (GRCm39)	Q454R	possibly damaging	Het
Tsc2	T	C	17: 24,840,121 (GRCm39)	N425S	probably benign	Het
Utp3	A	G	5: 88,702,564 (GRCm39)	D31G	probably benign	Het
Vmn1r173	A	T	7: 23,401,911 (GRCm39)	R49*	probably null	Het
Ybx2	T	A	11: 69,831,224 (GRCm39)	V273E	probably benign	Het
Zbtb22	G	A	17: 34,137,672 (GRCm39)	A606T	probably benign	Het
Zcchc8	A	T	5: 123,838,995 (GRCm39)	D514E	probably benign	Het
Zfy2	T	A	Y: 2,117,096 (GRCm39)	I244F	probably benign	Het
Zglp1	T	C	9: 20,977,485 (GRCm39)	N110S	probably benign	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
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
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'- TGACTCAGGGTCTAGGAAGG -3'
(R):5'- CTCTGACCAGTCTTTACCGG -3'

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

Posted On

2019-06-07