Mutagenetix > Incidental Mutation

Incidental Mutation 'R7674:Gys1'

592370

Institutional Source

Beutler Lab

Gene Symbol

Gys1

Ensembl Gene

ENSMUSG00000003865

Gene Name

glycogen synthase 1, muscle

Synonyms

MGS, Gys3

MMRRC Submission

045744-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7674 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45084268-45106043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45104495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 641 (S641P)

Ref Sequence

ENSEMBL: ENSMUSP00000003964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003964] [ENSMUST00000094434] [ENSMUST00000210106] [ENSMUST00000210864] [ENSMUST00000211150]

AlphaFold

Q9Z1E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000003964
AA Change: S641P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865
AA Change: S641P

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 benign
Transcript: ENSMUST00000094434

SMART Domains

Protein: ENSMUSP00000092002
Gene: ENSMUSG00000050708

Domain	Start	End	E-Value	Type
Pfam:Ferritin	14	155	4.4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209640

Predicted Effect

probably benign
Transcript: ENSMUST00000210106

Predicted Effect

probably benign
Transcript: ENSMUST00000210864

Predicted Effect

probably damaging
Transcript: ENSMUST00000211150
AA Change: S577P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.2752

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (58/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,123 (GRCm39)	I607F	probably damaging	Het
Abcc4	A	T	14: 118,848,899 (GRCm39)	D559E	probably damaging	Het
Abl1	T	C	2: 31,579,841 (GRCm39)	V8A	possibly damaging	Het
Alkal1	A	T	1: 6,459,712 (GRCm39)	Y96F	probably damaging	Het
Asb3	T	A	11: 31,031,435 (GRCm39)	C352S	possibly damaging	Het
B4galnt3	G	T	6: 120,192,166 (GRCm39)	D523E	probably benign	Het
Cadps	C	A	14: 12,411,581 (GRCm38)	E1258D	probably damaging	Het
Carmil2	A	T	8: 106,423,918 (GRCm39)	Q1257L	possibly damaging	Het
Cars1	A	G	7: 143,140,840 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,911,491 (GRCm39)	A781E	probably benign	Het
Ccr10	A	T	11: 101,065,475 (GRCm39)	D18E	probably benign	Het
Cdcp1	C	A	9: 123,045,071 (GRCm39)		probably benign	Het
Ces5a	C	A	8: 94,240,897 (GRCm39)	R400L	probably damaging	Het
Clcn6	C	T	4: 148,097,151 (GRCm39)	V636M	probably damaging	Het
Cluh	T	A	11: 74,558,546 (GRCm39)	L1206H	probably damaging	Het
Cog2	C	A	8: 125,264,621 (GRCm39)	N333K	probably damaging	Het
Dnah14	A	T	1: 181,535,098 (GRCm39)	I2355L	probably benign	Het
Dok4	T	C	8: 95,593,190 (GRCm39)	Y165C	probably damaging	Het
Dpy19l3	A	C	7: 35,394,734 (GRCm39)	D601E	probably damaging	Het
Egr3	G	A	14: 70,315,526 (GRCm39)		probably null	Het
Elapor1	T	G	3: 108,370,307 (GRCm39)	R698S	probably damaging	Het
Elp1	T	C	4: 56,792,075 (GRCm39)	Q231R	probably damaging	Het
Evpl	T	C	11: 116,113,394 (GRCm39)	K1432R	probably benign	Het
Fbxw8	A	T	5: 118,263,036 (GRCm39)	C214*	probably null	Het
Gm45861	A	C	8: 28,030,147 (GRCm39)	Y821S	unknown	Het
Gm5519	G	C	19: 33,802,428 (GRCm39)	G157A	probably benign	Het
Ighv6-6	T	A	12: 114,398,837 (GRCm39)	I10L	probably benign	Het
Jmy	C	T	13: 93,579,107 (GRCm39)	R675Q	probably damaging	Het
Kif14	C	T	1: 136,396,558 (GRCm39)	T288I	probably damaging	Het
Kpna3	A	T	14: 61,605,086 (GRCm39)	N520K	probably benign	Het
Lonp2	A	T	8: 87,392,386 (GRCm39)	Q484L	probably benign	Het
Lrp1b	T	A	2: 42,542,921 (GRCm39)		probably benign	Het
Mpeg1	A	T	19: 12,438,751 (GRCm39)	M70L	probably benign	Het
Msh3	C	A	13: 92,349,011 (GRCm39)	V1074L	probably benign	Het
Muc6	A	T	7: 141,224,247 (GRCm39)	L1645Q	unknown	Het
Nipbl	C	T	15: 8,322,585 (GRCm39)	V2609I	probably benign	Het
Nucks1	C	A	1: 131,858,844 (GRCm39)	T202N	probably benign	Het
Or10al3	A	G	17: 38,011,573 (GRCm39)	N4S	probably benign	Het
Or4c127	A	T	2: 89,833,389 (GRCm39)	Y213F	probably damaging	Het
Or4e2	A	G	14: 52,687,899 (GRCm39)	T10A	probably benign	Het
Or5m12	A	C	2: 85,734,880 (GRCm39)	F173V	probably damaging	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Plekha2	A	G	8: 25,547,314 (GRCm39)	S257P	probably damaging	Het
Pnlip	G	C	19: 58,663,586 (GRCm39)	G187A	possibly damaging	Het
Pramel22	T	A	4: 143,382,175 (GRCm39)	K174*	probably null	Het
Rasgrf2	C	T	13: 92,267,914 (GRCm39)	S30N	possibly damaging	Het
Rho	G	T	6: 115,909,294 (GRCm39)	C110F	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc2a12	A	G	10: 22,569,893 (GRCm39)	D528G	probably damaging	Het
Sorcs2	G	A	5: 36,555,296 (GRCm39)	R32C	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Srp72	A	T	5: 77,122,673 (GRCm39)	N35Y	probably damaging	Het
Tm2d2	C	A	8: 25,508,280 (GRCm39)	Y141*	probably null	Het
Tor3a	G	A	1: 156,483,478 (GRCm39)	H315Y	possibly damaging	Het
Usp17la	A	T	7: 104,510,654 (GRCm39)	K420*	probably null	Het
Vmn2r26	T	C	6: 124,016,321 (GRCm39)	W262R	probably benign	Het
Yipf7	A	T	5: 69,676,572 (GRCm39)	V189D	probably damaging	Het
Zan	T	A	5: 137,465,370 (GRCm39)	M462L	possibly damaging	Het
Zc3h18	AGG	AG	8: 123,110,295 (GRCm39)		probably null	Het
Zfp930	A	T	8: 69,681,337 (GRCm39)	H344L	probably 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
R7211:Gys1	UTSW	7	45,097,684 (GRCm39)	missense	possibly damaging	0.88
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
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'- GAACCCCATGAGGTAGATGC -3'
(R):5'- AGTGTCCACCGAGTTGCTTC -3'

Sequencing Primer
(F):5'- CCCCATGAGGTAGATGCGGTAAG -3'
(R):5'- ACCGAGTTGCTTCTCTTGCTG -3'

Posted On

2019-11-12