Mutagenetix > Incidental Mutation

Incidental Mutation 'R7211:Gys1'

561071

Institutional Source

Beutler Lab

Gene Symbol

Gys1

Ensembl Gene

ENSMUSG00000003865

Gene Name

glycogen synthase 1, muscle

Synonyms

MGS, Gys3

MMRRC Submission

045339-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45084268-45106043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45097684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 477 (F477Y)

Ref Sequence

ENSEMBL: ENSMUSP00000003964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003964] [ENSMUST00000211150]

AlphaFold

Q9Z1E4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003964
AA Change: F477Y

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865
AA Change: F477Y

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
Pfam:Glyco_transf_5	28	274	5.2e-8	PFAM
Pfam:Glycogen_syn	31	663	N/A	PFAM
low complexity region	670	686	N/A	INTRINSIC
low complexity region	698	711	N/A	INTRINSIC
low complexity region	716	733	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000211150
AA Change: F413Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice display neonatal lethality due to impaired cardiac function and exhibit reduced reduced ventricular chamber size, dilated atria, vascular congestion, and liver hemorrhage. Mice homozygous for a knock-in allele show altered glycogen homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	A	2: 154,887,699 (GRCm39)	V53E	probably damaging	Het
A1cf	A	G	19: 31,904,541 (GRCm39)	Y268C	probably benign	Het
Adam34l	T	A	8: 44,078,914 (GRCm39)	S437C	probably damaging	Het
Adamts13	C	T	2: 26,879,310 (GRCm39)	T621I	probably benign	Het
Akr1b7	A	T	6: 34,398,049 (GRCm39)	N293Y	probably benign	Het
Angpt2	T	A	8: 18,791,147 (GRCm39)	T50S	probably benign	Het
Anks1b	C	A	10: 90,346,932 (GRCm39)	A744D	possibly damaging	Het
Aqr	A	G	2: 113,965,204 (GRCm39)	V587A	probably benign	Het
Atm	A	G	9: 53,399,860 (GRCm39)	V1540A	probably benign	Het
Brd10	A	G	19: 29,763,712 (GRCm39)	F121S		Het
C4b	A	G	17: 34,954,508 (GRCm39)	V887A	possibly damaging	Het
Cd200r1	A	G	16: 44,609,120 (GRCm39)	T26A	probably benign	Het
Ciao1	A	G	2: 127,088,928 (GRCm39)		probably null	Het
Clba1	T	A	12: 112,774,632 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,519,775 (GRCm39)	C200R	probably benign	Het
Col6a5	T	A	9: 105,805,363 (GRCm39)	Q1181L	unknown	Het
Copb2	T	A	9: 98,456,198 (GRCm39)	I244N	probably damaging	Het
Cpb2	A	G	14: 75,512,430 (GRCm39)	Y281C	probably damaging	Het
Disp3	C	A	4: 148,325,979 (GRCm39)	V1260F	probably damaging	Het
Dnajc2	C	T	5: 21,981,777 (GRCm39)	R123Q	probably damaging	Het
Dpysl2	T	C	14: 67,067,425 (GRCm39)	N162S	probably damaging	Het
Dsp	T	A	13: 38,372,511 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,941 (GRCm39)		probably null	Het
Efcab3	C	A	11: 104,601,539 (GRCm39)	A284D	probably benign	Het
Efcab3	G	T	11: 104,615,435 (GRCm39)		probably null	Het
Epm2a	T	C	10: 11,219,419 (GRCm39)	Y69H	probably benign	Het
Frzb	C	A	2: 80,248,669 (GRCm39)	E262*	probably null	Het
Gaa	T	C	11: 119,175,030 (GRCm39)	V877A	possibly damaging	Het
Gpnmb	T	C	6: 49,028,949 (GRCm39)	I489T	possibly damaging	Het
Gpr31b	T	C	17: 13,271,104 (GRCm39)	T22A	probably benign	Het
Hoxc11	A	C	15: 102,863,487 (GRCm39)	E176A	possibly damaging	Het
Kcnk13	T	A	12: 100,028,076 (GRCm39)	F384I	probably damaging	Het
Ky	A	G	9: 102,386,349 (GRCm39)	E59G	probably benign	Het
Lama4	T	A	10: 38,881,491 (GRCm39)	D93E	probably damaging	Het
Lrrc23	A	T	6: 124,755,152 (GRCm39)	N128K	probably benign	Het
Lrrc71	G	T	3: 87,650,633 (GRCm39)	Q210K	possibly damaging	Het
Map1a	G	A	2: 121,135,124 (GRCm39)	R1980H	probably benign	Het
Med15	T	C	16: 17,515,977 (GRCm39)	D15G	unknown	Het
Mfng	A	T	15: 78,657,268 (GRCm39)	S69T	probably benign	Het
Muc16	T	G	9: 18,409,866 (GRCm39)	S181R	probably damaging	Het
Mug1	A	T	6: 121,857,498 (GRCm39)	Q1074L	possibly damaging	Het
Myorg	A	G	4: 41,498,028 (GRCm39)	I534T	probably damaging	Het
Nbea	T	A	3: 55,912,322 (GRCm39)	N1155I	probably benign	Het
Nbeal1	T	G	1: 60,240,110 (GRCm39)	L159V	probably damaging	Het
Nudt1	C	A	5: 140,323,402 (GRCm39)	P118Q	possibly damaging	Het
Or2q1	A	T	6: 42,794,950 (GRCm39)	T182S	probably benign	Het
Or8g37	A	C	9: 39,731,154 (GRCm39)	Q73P	possibly damaging	Het
Pcdhga6	T	A	18: 37,842,173 (GRCm39)	V631D	probably benign	Het
Pcna	A	C	2: 132,091,792 (GRCm39)	V203G	probably damaging	Het
Pgf	G	T	12: 85,222,549 (GRCm39)	N33K	probably benign	Het
Pgm2	T	C	5: 64,263,193 (GRCm39)	L280P	probably damaging	Het
Plcg1	G	A	2: 160,573,794 (GRCm39)	A20T	probably benign	Het
Pou2af2	G	T	9: 51,201,733 (GRCm39)	Q108K	probably damaging	Het
Prdx5	G	T	19: 6,884,958 (GRCm39)	D126E	probably damaging	Het
Prkag2	T	C	5: 25,200,296 (GRCm39)	T20A	probably benign	Het
Prr14l	T	A	5: 32,987,431 (GRCm39)	Q688L	probably damaging	Het
Pxdn	T	G	12: 30,034,903 (GRCm39)	D253E	possibly damaging	Het
Rbm18	A	T	2: 36,012,905 (GRCm39)	C53*	probably null	Het
Rprm	A	T	2: 53,975,270 (GRCm39)	L16Q	probably benign	Het
Saysd1	A	G	14: 20,127,576 (GRCm39)	F116S	probably damaging	Het
Scg3	A	G	9: 75,589,366 (GRCm39)	S96P	probably benign	Het
Scgb1b3	C	T	7: 31,075,078 (GRCm39)	L16F	unknown	Het
Sh3tc2	A	G	18: 62,122,474 (GRCm39)	T412A	probably benign	Het
Skint6	T	C	4: 113,095,566 (GRCm39)	N31S	probably benign	Het
Slc22a2	T	C	17: 12,805,770 (GRCm39)		probably null	Het
Slc8a2	C	T	7: 15,874,538 (GRCm39)	T262I	possibly damaging	Het
Smarcc1	A	T	9: 109,979,082 (GRCm39)	K188N	probably damaging	Het
Taf6	T	C	5: 138,177,088 (GRCm39)	T660A	possibly damaging	Het
Tbx2	C	T	11: 85,725,540 (GRCm39)	R164C	probably damaging	Het
Tec	T	C	5: 72,939,355 (GRCm39)	D220G	probably null	Het
Tfec	A	T	6: 16,867,464 (GRCm39)	W59R	probably damaging	Het
Tmtc2	G	T	10: 105,409,587 (GRCm39)	S8R	probably benign	Het
Tmtc3	A	T	10: 100,283,467 (GRCm39)	M696K	probably benign	Het
Trpc3	A	T	3: 36,694,882 (GRCm39)	S691T	possibly damaging	Het
Ttf2	A	T	3: 100,866,623 (GRCm39)	M503K	probably benign	Het
Ttll7	A	G	3: 146,619,031 (GRCm39)	H312R	probably damaging	Het
Ttn	T	C	2: 76,598,032 (GRCm39)	Y19627C	probably damaging	Het
Ugt2b35	T	C	5: 87,149,177 (GRCm39)	S143P	probably benign	Het
Usp53	A	G	3: 122,751,299 (GRCm39)	S253P	probably damaging	Het
Utp18	A	G	11: 93,776,206 (GRCm39)	V93A	probably benign	Het
Utrn	T	C	10: 12,277,079 (GRCm39)	N3413D	possibly damaging	Het
Zhx1	T	C	15: 57,916,647 (GRCm39)	D533G	possibly damaging	Het

Other mutations in Gys1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Gys1	APN	7	45,094,256 (GRCm39)	missense	possibly damaging	0.88
IGL00870:Gys1	APN	7	45,097,437 (GRCm39)	critical splice donor site	probably null
IGL01346:Gys1	APN	7	45,091,961 (GRCm39)	missense	probably damaging	1.00
IGL02396:Gys1	APN	7	45,089,012 (GRCm39)	missense	probably damaging	1.00
IGL03157:Gys1	APN	7	45,089,323 (GRCm39)	unclassified	probably benign
IGL03196:Gys1	APN	7	45,104,241 (GRCm39)	splice site	probably benign
R0095:Gys1	UTSW	7	45,094,073 (GRCm39)	missense	possibly damaging	0.87
R0284:Gys1	UTSW	7	45,086,143 (GRCm39)	unclassified	probably benign
R0537:Gys1	UTSW	7	45,089,425 (GRCm39)	missense	probably damaging	1.00
R0622:Gys1	UTSW	7	45,089,419 (GRCm39)	missense	probably damaging	1.00
R1749:Gys1	UTSW	7	45,089,456 (GRCm39)	missense	probably damaging	1.00
R1968:Gys1	UTSW	7	45,092,970 (GRCm39)	missense	probably damaging	1.00
R3953:Gys1	UTSW	7	45,089,470 (GRCm39)	missense	probably damaging	1.00
R4058:Gys1	UTSW	7	45,097,810 (GRCm39)	splice site	probably benign
R4626:Gys1	UTSW	7	45,088,958 (GRCm39)	missense	probably damaging	1.00
R4661:Gys1	UTSW	7	45,104,258 (GRCm39)	missense	probably damaging	1.00
R4998:Gys1	UTSW	7	45,100,968 (GRCm39)	intron	probably benign
R5965:Gys1	UTSW	7	45,104,763 (GRCm39)	missense	probably benign	0.25
R5987:Gys1	UTSW	7	45,087,529 (GRCm39)	missense	probably benign	0.00
R6059:Gys1	UTSW	7	45,104,712 (GRCm39)	splice site	probably null
R6481:Gys1	UTSW	7	45,092,393 (GRCm39)	missense	possibly damaging	0.63
R6788:Gys1	UTSW	7	45,094,102 (GRCm39)	missense	probably damaging	0.99
R6924:Gys1	UTSW	7	45,093,059 (GRCm39)	critical splice donor site	probably null
R7006:Gys1	UTSW	7	45,089,437 (GRCm39)	missense	probably damaging	1.00
R7029:Gys1	UTSW	7	45,089,008 (GRCm39)	missense	possibly damaging	0.93
R7060:Gys1	UTSW	7	45,089,437 (GRCm39)	missense	probably damaging	1.00
R7237:Gys1	UTSW	7	45,104,586 (GRCm39)	missense	probably benign	0.02
R7242:Gys1	UTSW	7	45,089,092 (GRCm39)	splice site	probably null
R7593:Gys1	UTSW	7	45,092,360 (GRCm39)	missense	probably damaging	0.99
R7641:Gys1	UTSW	7	45,104,495 (GRCm39)	missense	probably damaging	0.98
R7674:Gys1	UTSW	7	45,104,495 (GRCm39)	missense	probably damaging	0.98
R7756:Gys1	UTSW	7	45,097,726 (GRCm39)	missense	probably benign	0.43
R8197:Gys1	UTSW	7	45,092,348 (GRCm39)	missense	possibly damaging	0.80
R9082:Gys1	UTSW	7	45,088,917 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGAAAGGGTTCTTGGATATCATGC -3'
(R):5'- GTGTTGCAGGTTCATGCCAG -3'

Sequencing Primer
(F):5'- AAGGGTTCTTGGATATCATGCTTCTC -3'
(R):5'- TGCAGGTTCATGCCAGAACTG -3'

Posted On

2019-06-26