Mutagenetix > Incidental Mutation

Incidental Mutation 'R6924:Gys1'

539792

Institutional Source

Beutler Lab

Gene Symbol

Gys1

Ensembl Gene

ENSMUSG00000003865

Gene Name

glycogen synthase 1, muscle

Synonyms

MGS, Gys3

MMRRC Submission

045042-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6924 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45084268-45106043 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 45093059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148252 (fasta)

Gene Model

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

AlphaFold

Q9Z1E4

Predicted Effect

probably null
Transcript: ENSMUST00000003964

SMART Domains

Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865

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: ENSMUST00000209640

Predicted Effect

probably null
Transcript: ENSMUST00000211150

Meta Mutation Damage Score

0.9586

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,884 (GRCm39)	H30P	probably damaging	Het
Abhd6	A	T	14: 8,049,850 (GRCm38)	H213L	possibly damaging	Het
Adam22	T	A	5: 8,417,322 (GRCm39)	N40I	possibly damaging	Het
Ankrd42	A	G	7: 92,231,224 (GRCm39)		probably benign	Het
Arhgap40	C	T	2: 158,369,066 (GRCm39)	R63C	probably benign	Het
Atf7ip	T	G	6: 136,536,755 (GRCm39)		probably null	Het
Atg7	T	C	6: 114,686,172 (GRCm39)		probably null	Het
Car6	A	C	4: 150,273,713 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,259,667 (GRCm39)	C302*	probably null	Het
Ccdc117	A	T	11: 5,484,255 (GRCm39)	M195K	probably benign	Het
Cep95	T	C	11: 106,702,023 (GRCm39)	M383T	probably damaging	Het
Col20a1	A	G	2: 180,638,643 (GRCm39)	E419G	probably damaging	Het
Cyp2d9	C	G	15: 82,339,413 (GRCm39)	R272G	probably damaging	Het
Dhx57	A	T	17: 80,546,244 (GRCm39)	M1380K	possibly damaging	Het
Dnah14	A	G	1: 181,455,517 (GRCm39)	S881G	probably benign	Het
Fcgbp	T	A	7: 27,793,248 (GRCm39)	I1084N	probably benign	Het
Fgf17	A	T	14: 70,878,981 (GRCm39)	C21*	probably null	Het
Gemin4	A	G	11: 76,103,162 (GRCm39)	L533P	probably damaging	Het
Gkn3	T	C	6: 87,365,784 (GRCm39)	R12G	probably benign	Het
Gpr161	G	T	1: 165,149,188 (GRCm39)	R519L	possibly damaging	Het
Grin2a	A	G	16: 9,481,092 (GRCm39)	V535A	possibly damaging	Het
Hfm1	C	T	5: 106,998,276 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,240,517 (GRCm39)		probably null	Het
Hnrnpul2	T	C	19: 8,808,873 (GRCm39)	Y738H	unknown	Het
Hycc1	T	C	5: 24,191,133 (GRCm39)		probably null	Het
Igsf23	A	G	7: 19,675,684 (GRCm39)	S141P	possibly damaging	Het
Lamc3	A	C	2: 31,828,081 (GRCm39)	M1423L	probably benign	Het
Lcmt2	T	C	2: 120,970,484 (GRCm39)	T200A	probably benign	Het
Lgr4	T	C	2: 109,842,784 (GRCm39)	V899A	probably damaging	Het
Macf1	T	A	4: 123,421,145 (GRCm39)	R36S	possibly damaging	Het
Mrgprb8	A	G	7: 48,038,871 (GRCm39)	K181E	possibly damaging	Het
Muc2	G	A	7: 141,284,077 (GRCm39)	V786M	possibly damaging	Het
Nacc2	T	C	2: 25,980,041 (GRCm39)	T132A	probably damaging	Het
Nsmce2	T	A	15: 59,250,774 (GRCm39)	I15K	probably damaging	Het
Or10p22	T	G	10: 128,825,960 (GRCm39)	Y60D	probably damaging	Het
Or4k15c	A	G	14: 50,321,307 (GRCm39)	I277T	possibly damaging	Het
Otoa	A	T	7: 120,730,724 (GRCm39)		probably null	Het
Otogl	A	G	10: 107,644,502 (GRCm39)	I1248T	probably damaging	Het
Ppp1r17	T	A	6: 56,003,007 (GRCm39)	D32E	probably damaging	Het
Relt	A	C	7: 100,496,468 (GRCm39)	V427G	probably damaging	Het
Ric1	T	A	19: 29,546,788 (GRCm39)	V256D	probably damaging	Het
Samhd1	T	C	2: 156,951,403 (GRCm39)	T445A	probably benign	Het
Sepsecs	T	C	5: 52,821,646 (GRCm39)	I189V	probably benign	Het
Shroom3	T	A	5: 93,112,262 (GRCm39)	D1793E	probably damaging	Het
Sim1	C	T	10: 50,784,635 (GRCm39)	T137I	probably benign	Het
Stk17b	A	T	1: 53,800,218 (GRCm39)	D253E	possibly damaging	Het
Stmnd1	T	C	13: 46,452,969 (GRCm39)	V215A	probably benign	Het
Tcl1	A	G	12: 105,185,015 (GRCm39)	L65P	probably damaging	Het
Tiam2	A	C	17: 3,558,070 (GRCm39)	K1231N	probably damaging	Het
Tm9sf3	T	C	19: 41,206,717 (GRCm39)	Y476C	probably damaging	Het
Trim63	T	C	4: 134,048,572 (GRCm39)	S194P	probably damaging	Het
Ugt1a10	T	A	1: 87,983,379 (GRCm39)	I59N	probably damaging	Het
Vmn2r65	A	G	7: 84,613,198 (GRCm39)	F7S	probably benign	Het
Zfp775	T	A	6: 48,596,589 (GRCm39)	H154Q	probably damaging	Het
Zfp804b	C	T	5: 6,819,902 (GRCm39)	V1018I	probably benign	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
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
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'- AAATCGGAAGTCCCATCATTCTTAGC -3'
(R):5'- AGGATTCGGTGGTTCAGCAAG -3'

Sequencing Primer
(F):5'- CATTCTTAGCAGCAAAGGCATG -3'
(R):5'- TTCGGTGGTTCAGCAAGATAAC -3'

Posted On

2018-11-06