Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01123:Pygm'

53277

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pygm

Ensembl Gene

ENSMUSG00000032648

Gene Name

muscle glycogen phosphorylase

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01123

Quality Score

Status

Chromosome

Chromosomal Location

6384399-6398459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6391394 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 473 (N473S)

Ref Sequence

ENSEMBL: ENSMUSP00000109111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035269] [ENSMUST00000113483]

Predicted Effect

probably benign
Transcript: ENSMUST00000035269
AA Change: N561S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: N561S

Domain	Start	End	E-Value	Type
Pfam:Phosphorylase	113	829	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113483
AA Change: N473S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: N473S

Domain	Start	End	E-Value	Type
Pfam:Phosphorylase	62	742	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142755

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a glycolysis enzyme found in muscle. Highly similar enzymes encoded by different genes are found in liver and brain. The encoded protein is involved in regulating the breakdown of glycogen to glucose-1-phosphate, which is necessary for ATP generation. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	G	T	10: 28,973,938	D167E	probably damaging	Het
Aadat	A	T	8: 60,526,614	E170V	probably benign	Het
Acsf2	T	C	11: 94,570,450	E300G	probably benign	Het
Agbl3	C	T	6: 34,846,976	Q859*	probably null	Het
Arhgap11a	T	C	2: 113,834,773		probably benign	Het
Arhgef40	C	A	14: 51,994,346	Q730K	probably damaging	Het
Armc3	C	T	2: 19,201,805	P13L	possibly damaging	Het
B3gnt2	T	A	11: 22,836,490	T233S	probably benign	Het
Bnc1	G	A	7: 81,973,707	Q591*	probably null	Het
Bsn	A	T	9: 108,115,986	F856I	probably damaging	Het
CK137956	T	A	4: 127,935,850	T558S	probably benign	Het
Coq8b	G	A	7: 27,240,084	V180I	probably damaging	Het
Csmd1	A	T	8: 17,534,928	L16Q	possibly damaging	Het
Dhx37	A	G	5: 125,419,088	S769P	possibly damaging	Het
Diras1	T	A	10: 81,022,415	M1L	probably damaging	Het
Fam161b	A	G	12: 84,357,664	W81R	probably benign	Het
Fat4	A	T	3: 38,957,269	I2173L	probably benign	Het
Fbn2	T	C	18: 58,104,081	T617A	possibly damaging	Het
Gabrq	G	A	X: 72,836,833	D311N	probably benign	Het
Isl2	G	T	9: 55,545,462	G335C	probably damaging	Het
Kbtbd7	T	C	14: 79,428,612	V628A	probably damaging	Het
Kmt2d	T	C	15: 98,837,148	M5378V	unknown	Het
Lrrc23	G	T	6: 124,778,819	D75E	probably benign	Het
Mab21l3	G	A	3: 101,835,130	T38M	probably benign	Het
Matn1	T	C	4: 130,950,011	I177T	possibly damaging	Het
Mtor	T	C	4: 148,453,037	S60P	probably benign	Het
Naip6	T	C	13: 100,304,438	E278G	probably benign	Het
Nsun6	T	C	2: 15,048,978	I7V	possibly damaging	Het
Pabpc6	A	T	17: 9,668,147	S492T	probably benign	Het
Pakap	C	T	4: 57,757,627	Q188*	probably null	Het
Pom121	A	T	5: 135,391,706	V287D	unknown	Het
Ptprq	A	T	10: 107,686,218	F624Y	probably damaging	Het
Ptprr	A	G	10: 116,188,317	T178A	probably benign	Het
Ros1	A	T	10: 52,120,809	Y1256N	probably damaging	Het
Scpep1	T	C	11: 88,941,328	N192S	possibly damaging	Het
Serpina1f	A	G	12: 103,694,006	S6P	possibly damaging	Het
Sgca	T	A	11: 94,972,287	Q80L	probably damaging	Het
Skint6	A	G	4: 112,804,682	L1235P	possibly damaging	Het
Slc23a2	A	C	2: 132,056,816	N600K	probably benign	Het
Spata20	T	C	11: 94,483,395	T350A	probably benign	Het
Syne1	G	T	10: 5,344,921	Y1227*	probably null	Het
Unc13c	T	C	9: 73,933,197	Y124C	probably benign	Het
Usp40	G	A	1: 87,986,123	T416I	probably benign	Het
Vmn1r200	T	C	13: 22,395,401	W116R	probably benign	Het
Vps4a	T	C	8: 107,039,219		probably benign	Het
Zfyve16	A	G	13: 92,492,522	V1469A	probably damaging	Het

Other mutations in Pygm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Pygm	APN	19	6392994	splice site	probably null
IGL01827:Pygm	APN	19	6390377	missense	probably damaging	1.00
IGL02032:Pygm	APN	19	6388087	missense	probably benign	0.23
IGL02261:Pygm	APN	19	6388271	missense	probably damaging	1.00
IGL02431:Pygm	APN	19	6388118	missense	probably damaging	1.00
IGL02511:Pygm	APN	19	6385688	missense	probably benign	0.22
IGL02967:Pygm	APN	19	6393838	missense	probably damaging	1.00
IGL03081:Pygm	APN	19	6388821	missense	possibly damaging	0.53
R0336:Pygm	UTSW	19	6388758	missense	probably damaging	1.00
R0415:Pygm	UTSW	19	6391366	missense	probably benign	0.06
R0799:Pygm	UTSW	19	6386018	intron	probably benign
R1445:Pygm	UTSW	19	6389887	missense	probably benign	0.20
R1752:Pygm	UTSW	19	6391034	missense	probably damaging	0.99
R1828:Pygm	UTSW	19	6397607	missense	possibly damaging	0.72
R2054:Pygm	UTSW	19	6388155	missense	probably benign	0.02
R2086:Pygm	UTSW	19	6391481	critical splice donor site	probably null
R2116:Pygm	UTSW	19	6386408	missense	probably damaging	0.98
R2431:Pygm	UTSW	19	6393785	missense	probably damaging	1.00
R2516:Pygm	UTSW	19	6397601	missense	probably benign	0.20
R3938:Pygm	UTSW	19	6392950	missense	probably benign	0.42
R4609:Pygm	UTSW	19	6391409	missense	possibly damaging	0.92
R4924:Pygm	UTSW	19	6393724	missense	probably damaging	1.00
R4995:Pygm	UTSW	19	6398139	missense	probably damaging	1.00
R5225:Pygm	UTSW	19	6389464	missense	probably benign	0.01
R5296:Pygm	UTSW	19	6384579	missense	probably damaging	1.00
R5437:Pygm	UTSW	19	6390382	missense	probably damaging	1.00
R5994:Pygm	UTSW	19	6398043	critical splice acceptor site	probably null
R6030:Pygm	UTSW	19	6388812	missense	possibly damaging	0.78
R6030:Pygm	UTSW	19	6388812	missense	possibly damaging	0.78
R6188:Pygm	UTSW	19	6397937	splice site	probably null
R6266:Pygm	UTSW	19	6398139	missense	probably damaging	1.00
R6799:Pygm	UTSW	19	6398127	missense	probably damaging	1.00
R6855:Pygm	UTSW	19	6393757	missense	probably damaging	1.00
R6856:Pygm	UTSW	19	6393757	missense	probably damaging	1.00
R6857:Pygm	UTSW	19	6393757	missense	probably damaging	1.00
R7223:Pygm	UTSW	19	6388863	missense	probably benign
R7256:Pygm	UTSW	19	6385896	missense	probably benign	0.01
R7263:Pygm	UTSW	19	6388327	missense	probably damaging	1.00
R7398:Pygm	UTSW	19	6385936	missense	probably damaging	1.00
R8093:Pygm	UTSW	19	6386042	missense	probably damaging	1.00
R8351:Pygm	UTSW	19	6388087	missense	possibly damaging	0.83
R8499:Pygm	UTSW	19	6390362	missense	probably damaging	0.99

Posted On

2013-06-21