Mutagenetix > Incidental Mutation

Incidental Mutation 'R0622:Gys1'

58729

Institutional Source

Beutler Lab

Gene Symbol

Gys1

Ensembl Gene

ENSMUSG00000003865

Gene Name

glycogen synthase 1, muscle

Synonyms

MGS, Gys3

MMRRC Submission

038811-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0622 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45084268-45106043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45089419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 193 (T193S)

Ref Sequence

ENSEMBL: ENSMUSP00000148252 (fasta)

Gene Model

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

AlphaFold

Q9Z1E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000003964
AA Change: T257S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865
AA Change: T257S

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: T193S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000211214

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	T	A	13: 30,565,664 (GRCm39)	M243K	probably benign	Het
Ap1b1	A	G	11: 4,987,707 (GRCm39)	M744V	probably damaging	Het
Ccdc152	T	C	15: 3,327,660 (GRCm39)	N39S	probably damaging	Het
Cd163	G	A	6: 124,294,311 (GRCm39)	V490M	probably damaging	Het
Col6a5	G	T	9: 105,803,051 (GRCm39)	H1305N	unknown	Het
Cpb1	C	A	3: 20,303,982 (GRCm39)	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,412,656 (GRCm39)	Y1248F	probably damaging	Het
Dhdds	G	C	4: 133,721,547 (GRCm39)	F83L	probably damaging	Het
Dsg4	T	A	18: 20,582,845 (GRCm39)	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,211,736 (GRCm39)	D15G	probably damaging	Het
F3	A	T	3: 121,518,668 (GRCm39)	D44V	probably damaging	Het
Fat2	A	T	11: 55,173,954 (GRCm39)	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,220,944 (GRCm39)	D650G	possibly damaging	Het
Gramd4	T	A	15: 85,975,590 (GRCm39)	F36I	probably damaging	Het
Grm7	G	A	6: 111,335,457 (GRCm39)	A623T	probably damaging	Het
Hectd4	A	G	5: 121,486,688 (GRCm39)	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,540,239 (GRCm39)	D281E	probably damaging	Het
Kcnh7	A	C	2: 62,667,633 (GRCm39)		probably null	Het
Klhl29	A	G	12: 5,131,224 (GRCm39)	L852P	probably damaging	Het
Lrch1	T	C	14: 75,033,491 (GRCm39)	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,618,563 (GRCm39)		probably null	Het
Mcpt4	C	A	14: 56,298,119 (GRCm39)	R144L	probably benign	Het
Mia2	C	T	12: 59,178,364 (GRCm39)	R12W	probably damaging	Het
Mrps5	A	G	2: 127,436,451 (GRCm39)	K116R	probably benign	Het
Myrf	G	A	19: 10,200,816 (GRCm39)	P286S	probably damaging	Het
Nanp	A	G	2: 150,881,164 (GRCm39)	M28T	probably benign	Het
Neb	T	C	2: 52,102,963 (GRCm39)	I4472V	probably benign	Het
Nfix	A	C	8: 85,453,111 (GRCm39)	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,771,832 (GRCm39)	R849Q	probably benign	Het
Nup210l	G	A	3: 90,075,047 (GRCm39)	V786M	probably damaging	Het
Or2t44	T	C	11: 58,677,167 (GRCm39)	S36P	probably damaging	Het
Or52ad1	A	G	7: 102,996,064 (GRCm39)	S24P	probably damaging	Het
Or6z5	T	C	7: 6,477,598 (GRCm39)	I163T	possibly damaging	Het
Or8c20	A	G	9: 38,260,667 (GRCm39)	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,783,452 (GRCm39)	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,627,149 (GRCm39)	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,490,701 (GRCm39)	E116G	probably damaging	Het
Polq	T	C	16: 36,881,355 (GRCm39)	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,036,414 (GRCm39)	R423H	probably damaging	Het
Pramel29	T	C	4: 143,939,583 (GRCm39)		probably benign	Het
Prkag2	T	C	5: 25,074,247 (GRCm39)	N246S	probably damaging	Het
Proser1	A	G	3: 53,385,281 (GRCm39)	S388G	probably benign	Het
Ralgps1	G	A	2: 33,064,459 (GRCm39)	R238*	probably null	Het
Rfx2	T	C	17: 57,084,071 (GRCm39)	D657G	probably damaging	Het
Ryr3	A	G	2: 112,492,900 (GRCm39)	F3724S	probably damaging	Het
Sh2d5	T	C	4: 137,986,539 (GRCm39)	S421P	probably damaging	Het
Slc34a1	C	A	13: 23,996,594 (GRCm39)	T33K	probably damaging	Het
St8sia5	A	G	18: 77,333,809 (GRCm39)	T156A	probably damaging	Het
Stk32c	T	C	7: 138,768,026 (GRCm39)	D85G	probably benign	Het
Tnks	A	G	8: 35,407,976 (GRCm39)	S251P	probably damaging	Het
Tnxb	T	A	17: 34,937,703 (GRCm39)	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,393,378 (GRCm39)	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Wasf3	A	G	5: 146,403,602 (GRCm39)		probably null	Het
Wdr90	C	T	17: 26,074,632 (GRCm39)	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,485,310 (GRCm39)	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123 (GRCm39)	Q140*	probably null	Het
Zfp677	C	T	17: 21,617,962 (GRCm39)	L340F	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
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
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'- ATTGTGAGACAGCCCAAAGCCC -3'
(R):5'- TCCTTCAGGATACAGAGTCAGCCAG -3'

Sequencing Primer
(F):5'- ATCGTGCTCCTAAGAGTGCAG -3'
(R):5'- AGAGTCAGCCAGCTTCATTTAC -3'

Posted On

2013-07-11