Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Pygm'

564307

Institutional Source

Beutler Lab

Gene Symbol

Pygm

Ensembl Gene

ENSMUSG00000032648

Gene Name

muscle glycogen phosphorylase

Synonyms

MMRRC Submission

045317-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6434438-6448494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6435926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 126 (I126F)

Ref Sequence

ENSEMBL: ENSMUSP00000047564 (fasta)

Gene Model

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

AlphaFold

Q9WUB3

Predicted Effect

probably benign
Transcript: ENSMUST00000035269
AA Change: I126F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: I126F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113483

SMART Domains

Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648

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

Coding Region Coverage

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

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,659,923 (GRCm39)	Y790H	probably damaging	Het
Bend3	A	C	10: 43,369,667 (GRCm39)	S7R	probably benign	Het
Ccdc106	A	G	7: 5,063,325 (GRCm39)	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,431,997 (GRCm39)	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,288,851 (GRCm39)	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cecr2	T	C	6: 120,739,490 (GRCm39)	S1406P	probably benign	Het
Cep290	A	G	10: 100,382,360 (GRCm39)	T208A	probably damaging	Het
Cep85l	A	C	10: 53,172,351 (GRCm39)	C569W	probably damaging	Het
Ces5a	G	A	8: 94,226,154 (GRCm39)	T527I	probably benign	Het
Clca3a2	T	A	3: 144,796,608 (GRCm39)	I200F	probably damaging	Het
Cmas	G	A	6: 142,716,312 (GRCm39)	D251N	probably damaging	Het
Ctcfl	G	T	2: 172,960,268 (GRCm39)	A105E	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dctn6	A	T	8: 34,557,962 (GRCm39)	I170N	probably damaging	Het
Dnah2	T	C	11: 69,321,920 (GRCm39)	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,724,988 (GRCm39)	V465I	possibly damaging	Het
Dzip1	T	C	14: 119,123,058 (GRCm39)	T646A	probably benign	Het
Etv4	T	A	11: 101,675,151 (GRCm39)		probably null	Het
Exoc3l2	T	C	7: 19,218,628 (GRCm39)	V549A	unknown	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
Fry	T	G	5: 150,390,251 (GRCm39)	I179S		Het
Galntl5	A	G	5: 25,400,298 (GRCm39)	H109R	probably benign	Het
Garem1	C	A	18: 21,281,811 (GRCm39)	G182W	probably damaging	Het
Gm5916	A	T	9: 36,032,285 (GRCm39)	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,615,709 (GRCm39)	F271I	probably benign	Het
Hivep2	G	T	10: 14,004,845 (GRCm39)	S481I	probably benign	Het
Homez	T	A	14: 55,094,877 (GRCm39)	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,210,722 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,678,957 (GRCm39)	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,617,212 (GRCm39)		probably null	Het
Kif5b	A	G	18: 6,225,340 (GRCm39)	V230A	probably damaging	Het
Ldlr	T	A	9: 21,657,040 (GRCm39)	V719E	probably benign	Het
Lsm7	G	A	10: 80,689,565 (GRCm39)	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,710,988 (GRCm39)	D90E	probably benign	Het
Mmrn1	A	G	6: 60,953,098 (GRCm39)	K460E	probably damaging	Het
Myh10	A	C	11: 68,681,515 (GRCm39)	N1061H	probably damaging	Het
Nepn	A	G	10: 52,277,089 (GRCm39)	Q275R	probably benign	Het
Noc3l	A	T	19: 38,800,800 (GRCm39)	D227E	probably benign	Het
Nploc4	G	T	11: 120,319,376 (GRCm39)	S61R	probably benign	Het
Nr4a2	T	C	2: 57,002,381 (GRCm39)	Y24C	probably damaging	Het
Nup160	T	A	2: 90,553,699 (GRCm39)	I1143N	probably damaging	Het
Or14a256	G	T	7: 86,264,873 (GRCm39)	H327N	probably benign	Het
Or4a15	A	T	2: 89,192,838 (GRCm39)	Y312N	probably benign	Het
Or8c17	T	A	9: 38,180,004 (GRCm39)	M57K	probably damaging	Het
Or8h7	A	G	2: 86,720,956 (GRCm39)	S188P	probably damaging	Het
Papola	T	A	12: 105,775,604 (GRCm39)	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgap1	A	T	1: 54,532,366 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,633 (GRCm39)	H229R	probably damaging	Het
Plcl1	A	G	1: 55,737,377 (GRCm39)	Q906R	probably benign	Het
Ppfia3	T	C	7: 44,991,167 (GRCm39)	N1018S	probably benign	Het
Pramel24	T	A	4: 143,452,849 (GRCm39)	D93E	probably benign	Het
Prkd1	A	G	12: 50,435,125 (GRCm39)	V534A	possibly damaging	Het
Rag1	T	C	2: 101,472,415 (GRCm39)	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 92,032,637 (GRCm39)	Q560*	probably null	Het
Rbp3	A	T	14: 33,684,540 (GRCm39)	I1190F	possibly damaging	Het
Reln	T	C	5: 22,183,921 (GRCm39)	K1693E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsph3a	A	G	17: 8,165,002 (GRCm39)	T121A	probably benign	Het
Rufy3	A	G	5: 88,762,806 (GRCm39)	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,502,591 (GRCm39)	Q3548*	probably null	Het
Sardh	A	T	2: 27,108,824 (GRCm39)	V637D	probably benign	Het
Spata16	T	C	3: 26,722,016 (GRCm39)	V179A	probably benign	Het
Spopfm2	T	C	3: 94,083,667 (GRCm39)	E48G	probably benign	Het
Tbc1d30	G	A	10: 121,124,870 (GRCm39)	T319I	probably damaging	Het
Tlr2	T	A	3: 83,744,913 (GRCm39)	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,109,237 (GRCm39)		probably null	Het
Vmn1r113	T	A	7: 20,521,370 (GRCm39)	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,434,036 (GRCm39)	Y210S	probably damaging	Het
Zbbx	A	T	3: 74,947,205 (GRCm39)	H670Q	probably benign	Het

Other mutations in Pygm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Pygm	APN	19	6,441,424 (GRCm39)	missense	probably benign
IGL01743:Pygm	APN	19	6,443,024 (GRCm39)	splice site	probably null
IGL01827:Pygm	APN	19	6,440,407 (GRCm39)	missense	probably damaging	1.00
IGL02032:Pygm	APN	19	6,438,117 (GRCm39)	missense	probably benign	0.23
IGL02261:Pygm	APN	19	6,438,301 (GRCm39)	missense	probably damaging	1.00
IGL02431:Pygm	APN	19	6,438,148 (GRCm39)	missense	probably damaging	1.00
IGL02511:Pygm	APN	19	6,435,718 (GRCm39)	missense	probably benign	0.22
IGL02967:Pygm	APN	19	6,443,868 (GRCm39)	missense	probably damaging	1.00
IGL03081:Pygm	APN	19	6,438,851 (GRCm39)	missense	possibly damaging	0.53
R0336:Pygm	UTSW	19	6,438,788 (GRCm39)	missense	probably damaging	1.00
R0415:Pygm	UTSW	19	6,441,396 (GRCm39)	missense	probably benign	0.06
R0799:Pygm	UTSW	19	6,436,048 (GRCm39)	intron	probably benign
R1445:Pygm	UTSW	19	6,439,917 (GRCm39)	missense	probably benign	0.20
R1752:Pygm	UTSW	19	6,441,064 (GRCm39)	missense	probably damaging	0.99
R1828:Pygm	UTSW	19	6,447,637 (GRCm39)	missense	possibly damaging	0.72
R2054:Pygm	UTSW	19	6,438,185 (GRCm39)	missense	probably benign	0.02
R2086:Pygm	UTSW	19	6,441,511 (GRCm39)	critical splice donor site	probably null
R2116:Pygm	UTSW	19	6,436,438 (GRCm39)	missense	probably damaging	0.98
R2431:Pygm	UTSW	19	6,443,815 (GRCm39)	missense	probably damaging	1.00
R2516:Pygm	UTSW	19	6,447,631 (GRCm39)	missense	probably benign	0.20
R3938:Pygm	UTSW	19	6,442,980 (GRCm39)	missense	probably benign	0.42
R4609:Pygm	UTSW	19	6,441,439 (GRCm39)	missense	possibly damaging	0.92
R4924:Pygm	UTSW	19	6,443,754 (GRCm39)	missense	probably damaging	1.00
R4995:Pygm	UTSW	19	6,448,169 (GRCm39)	missense	probably damaging	1.00
R5225:Pygm	UTSW	19	6,439,494 (GRCm39)	missense	probably benign	0.01
R5296:Pygm	UTSW	19	6,434,609 (GRCm39)	missense	probably damaging	1.00
R5437:Pygm	UTSW	19	6,440,412 (GRCm39)	missense	probably damaging	1.00
R5994:Pygm	UTSW	19	6,448,073 (GRCm39)	critical splice acceptor site	probably null
R6030:Pygm	UTSW	19	6,438,842 (GRCm39)	missense	possibly damaging	0.78
R6030:Pygm	UTSW	19	6,438,842 (GRCm39)	missense	possibly damaging	0.78
R6188:Pygm	UTSW	19	6,447,967 (GRCm39)	splice site	probably null
R6266:Pygm	UTSW	19	6,448,169 (GRCm39)	missense	probably damaging	1.00
R6799:Pygm	UTSW	19	6,448,157 (GRCm39)	missense	probably damaging	1.00
R6855:Pygm	UTSW	19	6,443,787 (GRCm39)	missense	probably damaging	1.00
R6856:Pygm	UTSW	19	6,443,787 (GRCm39)	missense	probably damaging	1.00
R6857:Pygm	UTSW	19	6,443,787 (GRCm39)	missense	probably damaging	1.00
R7223:Pygm	UTSW	19	6,438,893 (GRCm39)	missense	probably benign
R7263:Pygm	UTSW	19	6,438,357 (GRCm39)	missense	probably damaging	1.00
R7398:Pygm	UTSW	19	6,435,966 (GRCm39)	missense	probably damaging	1.00
R8093:Pygm	UTSW	19	6,436,072 (GRCm39)	missense	probably damaging	1.00
R8351:Pygm	UTSW	19	6,438,117 (GRCm39)	missense	possibly damaging	0.83
R8499:Pygm	UTSW	19	6,440,392 (GRCm39)	missense	probably damaging	0.99
R8967:Pygm	UTSW	19	6,434,744 (GRCm39)	missense	probably damaging	1.00
R9331:Pygm	UTSW	19	6,448,129 (GRCm39)	missense	probably damaging	1.00
R9656:Pygm	UTSW	19	6,438,187 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGATCTACTACCTGTCTTTGGAG -3'
(R):5'- TCATAGCGGATCCCATAGCC -3'

Sequencing Primer
(F):5'- TTCTACATGGGCCGGACACTG -3'
(R):5'- TAGCGGATCCCATAGCCATAGG -3'

Posted On

2019-06-26