Mutagenetix > Incidental Mutation

Incidental Mutation 'R4626:Gys1'

348779

Institutional Source

Beutler Lab

Gene Symbol

Gys1

Ensembl Gene

ENSMUSG00000003865

Gene Name

glycogen synthase 1, muscle

Synonyms

MGS, Gys3

MMRRC Submission

041891-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45084268-45106043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45088958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 119 (L119S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003964] [ENSMUST00000107771] [ENSMUST00000211150] [ENSMUST00000211214] [ENSMUST00000211666]

AlphaFold

Q9Z1E4

Predicted Effect

probably benign
Transcript: ENSMUST00000003964
AA Change: L183S

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865
AA Change: L183S

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: ENSMUST00000107766
AA Change: L119S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103395
Gene: ENSMUSG00000003865
AA Change: L119S

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
Pfam:Glycogen_syn	31	105	2.3e-29	PFAM
Pfam:Glycogen_syn	99	599	1.2e-298	PFAM
Pfam:Glycos_transf_1	422	482	5e-6	PFAM
low complexity region	606	622	N/A	INTRINSIC
low complexity region	634	647	N/A	INTRINSIC
low complexity region	652	669	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107771

SMART Domains

Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868

Domain	Start	End	E-Value	Type
AAA	69	361	5.17e-10	SMART
Blast:AAA	373	417	3e-17	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000211150
AA Change: L119S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000211214

Predicted Effect

probably benign
Transcript: ENSMUST00000211666

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,313,784 (GRCm39)	*527G	probably null	Het
Abca17	A	T	17: 24,540,058 (GRCm39)	I390N	probably damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd49	A	C	9: 14,693,936 (GRCm39)	L77R	probably damaging	Het
Ap3b1	T	A	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Arhgap39	A	C	15: 76,621,837 (GRCm39)	F255V	possibly damaging	Het
Atp1a3	T	A	7: 24,698,193 (GRCm39)	N171I	possibly damaging	Het
Atp9a	T	C	2: 168,481,863 (GRCm39)	D953G	probably damaging	Het
Atxn1	T	C	13: 45,720,575 (GRCm39)	Y440C	probably damaging	Het
Bccip	T	C	7: 133,322,457 (GRCm39)	Y268H	possibly damaging	Het
Brms1l	C	A	12: 55,909,958 (GRCm39)	P243T	probably benign	Het
Btbd10	T	C	7: 112,927,605 (GRCm39)	E250G	probably damaging	Het
Cacna1e	T	C	1: 154,358,294 (GRCm39)		probably null	Het
Cfhr2	A	T	1: 139,741,314 (GRCm39)	N220K	probably damaging	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,903 (GRCm39)	I831V	possibly damaging	Het
F2	T	A	2: 91,461,015 (GRCm39)	N239I	probably benign	Het
Fbln5	T	A	12: 101,727,086 (GRCm39)	D301V	probably damaging	Het
Fbn2	A	T	18: 58,146,819 (GRCm39)	C2692*	probably null	Het
Fhdc1	C	T	3: 84,381,557 (GRCm39)	D34N	probably damaging	Het
Galnt13	T	A	2: 54,747,878 (GRCm39)	M253K	probably damaging	Het
Gpc6	C	A	14: 118,202,255 (GRCm39)	Y488*	probably null	Het
Grm5	G	T	7: 87,779,361 (GRCm39)	G934C	probably damaging	Het
H2-T15	CTGGGTG	CTG	17: 36,368,788 (GRCm39)		probably null	Het
Htra4	T	C	8: 25,527,130 (GRCm39)	N222D	probably benign	Het
Iba57	A	G	11: 59,049,287 (GRCm39)	V294A	probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama5	G	A	2: 179,826,253 (GRCm39)	T2330M	probably damaging	Het
Lrguk	G	A	6: 34,106,158 (GRCm39)	E728K	probably benign	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mettl18	T	A	1: 163,824,045 (GRCm39)	V122E	probably damaging	Het
Mindy2	G	A	9: 70,534,063 (GRCm39)	S378L	probably damaging	Het
Mis18bp1	G	T	12: 65,187,540 (GRCm39)	F854L	probably damaging	Het
Mtdh	C	T	15: 34,114,980 (GRCm39)	R106*	probably null	Het
Nup214	T	A	2: 31,923,416 (GRCm39)	V1315E	possibly damaging	Het
Nup58	A	G	14: 60,476,004 (GRCm39)	V271A	probably benign	Het
Or1j1	A	G	2: 36,702,271 (GRCm39)	Y278H	probably damaging	Het
Or4c101	T	C	2: 88,390,176 (GRCm39)	V121A	possibly damaging	Het
Or6f2	T	C	7: 139,756,359 (GRCm39)	S109P	probably damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pcdha11	A	T	18: 37,140,051 (GRCm39)	N560I	probably damaging	Het
Pcdhb9	T	A	18: 37,535,302 (GRCm39)	F432Y	probably benign	Het
Peg10	GGATCC	GGATCCCCATCAAGATCC	6: 4,756,460 (GRCm39)		probably benign	Het
Poll	C	A	19: 45,543,563 (GRCm39)	M385I	probably benign	Het
Pomt1	A	G	2: 32,144,424 (GRCm39)	K737E	possibly damaging	Het
Prr16	C	T	18: 51,435,911 (GRCm39)	T130I	probably damaging	Het
Ptpn18	A	G	1: 34,510,873 (GRCm39)		probably null	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Scn10a	A	G	9: 119,460,571 (GRCm39)	I1101T	possibly damaging	Het
Slc22a22	T	C	15: 57,126,734 (GRCm39)	T93A	probably damaging	Het
Snx10	A	G	6: 51,565,270 (GRCm39)	D129G	probably damaging	Het
Stub1	A	G	17: 26,050,845 (GRCm39)		probably null	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Trmu	T	C	15: 85,779,186 (GRCm39)	Y278H	possibly damaging	Het
Ugt2b36	A	C	5: 87,239,947 (GRCm39)	F146C	probably damaging	Het
Vav2	T	C	2: 27,160,172 (GRCm39)	I692V	possibly damaging	Het
Wdfy3	A	G	5: 102,091,800 (GRCm39)	L513P	probably damaging	Het
Zfhx4	T	A	3: 5,467,699 (GRCm39)	V2619D	probably damaging	Het
Zfyve26	T	A	12: 79,315,844 (GRCm39)	N1211Y	possibly damaging	Het
Zp3r	A	G	1: 130,542,912 (GRCm39)	F142L	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
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
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'- GCCTAACTTGGGTTTTGGCC -3'
(R):5'- CTCTTAGGAGCACGATTCCC -3'

Sequencing Primer
(F):5'- TTGTGCGACCAATGCCTG -3'
(R):5'- AGCACGATTCCCTGCCAG -3'

Posted On

2015-10-08