Mutagenetix > Incidental Mutations

Incidental Mutation 'R6799:Pygm'

533240

Institutional Source

Beutler Lab

Gene Symbol

Pygm

Ensembl Gene

ENSMUSG00000032648

Gene Name

muscle glycogen phosphorylase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6384399-6398459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6398127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 733 (Y733F)

Ref Sequence

ENSEMBL: ENSMUSP00000109111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035269] [ENSMUST00000035716] [ENSMUST00000113467] [ENSMUST00000113468] [ENSMUST00000113469] [ENSMUST00000113471] [ENSMUST00000113472] [ENSMUST00000113475] [ENSMUST00000113476] [ENSMUST00000113483] [ENSMUST00000127021] [ENSMUST00000138555] [ENSMUST00000139522] [ENSMUST00000146601] [ENSMUST00000146831] [ENSMUST00000150713] [ENSMUST00000167240]

AlphaFold

Q9WUB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000035269
AA Change: Y821F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: Y821F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035716

SMART Domains

Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	3.56e-29	SMART
RasGEF	150	388	1.08e-100	SMART
EFh	430	458	8.25e-3	SMART
EFh	459	487	1.42e1	SMART
C1	499	548	3.22e-14	SMART
low complexity region	575	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113467

SMART Domains

Protein: ENSMUSP00000109095
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
Blast:RasGEFN	3	24	9e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113468

SMART Domains

Protein: ENSMUSP00000109096
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	97	1.93e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113469

SMART Domains

Protein: ENSMUSP00000109097
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
Blast:RasGEFN	3	24	1e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113471

SMART Domains

Protein: ENSMUSP00000109099
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	7.2e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113472

SMART Domains

Protein: ENSMUSP00000109100
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	7.2e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113475

SMART Domains

Protein: ENSMUSP00000109103
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	7.2e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113476

SMART Domains

Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	3.56e-29	SMART
RasGEF	150	388	1.08e-100	SMART
EFh	430	458	8.25e-3	SMART
EFh	459	487	1.42e1	SMART
C1	499	548	3.22e-14	SMART
low complexity region	575	595	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113483
AA Change: Y733F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: Y733F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127021

SMART Domains

Protein: ENSMUSP00000119740
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
Blast:RasGEFN	3	24	1e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000138555

SMART Domains

Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	3.56e-29	SMART
Pfam:RasGEF	151	231	1.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139522

SMART Domains

Protein: ENSMUSP00000123036
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	125	6.02e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146601

SMART Domains

Protein: ENSMUSP00000117681
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
Blast:RasGEFN	3	58	1e-35	BLAST
SCOP:d1bkds_	9	58	1e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146831

SMART Domains

Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	3.56e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150713

SMART Domains

Protein: ENSMUSP00000120949
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	95	6.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167240

SMART Domains

Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	3.56e-29	SMART
RasGEF	150	388	1.08e-100	SMART
EFh	430	458	8.25e-3	SMART
EFh	459	487	1.42e1	SMART
C1	499	548	3.22e-14	SMART
low complexity region	575	595	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	T	5: 145,044,814	Y153F	probably damaging	Het
5830473C10Rik	A	G	5: 90,579,615	H364R	probably damaging	Het
Abcb1b	T	A	5: 8,812,656	Y113N	probably damaging	Het
Anapc1	C	G	2: 128,659,737	R795T	probably null	Het
Arhgap18	T	A	10: 26,849,921	N47K	possibly damaging	Het
Arhgap26	A	G	18: 39,099,607	N96D	probably damaging	Het
Asxl3	G	T	18: 22,465,400	E191*	probably null	Het
Cc2d2b	A	G	19: 40,791,208	E697G	possibly damaging	Het
Chaf1a	A	T	17: 56,047,059	I110F	unknown	Het
Clca4b	A	T	3: 144,915,627		probably null	Het
Dagla	C	A	19: 10,256,850	V366L	probably damaging	Het
Dapk1	A	G	13: 60,752,235	N878S	probably benign	Het
Dapk3	A	G	10: 81,190,262	Y129C	probably damaging	Het
Dhx38	A	G	8: 109,553,202	L952P	probably damaging	Het
Drosha	T	A	15: 12,912,537	Y1080*	probably null	Het
Dscaml1	G	A	9: 45,450,583	V214I	probably benign	Het
Dtymk	A	G	1: 93,798,492	L15P	probably benign	Het
E330034G19Rik	A	G	14: 24,296,110	M30V	probably benign	Het
Egfr	G	A	11: 16,896,952	C783Y	probably damaging	Het
Epha8	C	T	4: 136,945,669	R268Q	probably benign	Het
Fbxw24	T	A	9: 109,624,930	R49S	probably damaging	Het
Fuk	T	C	8: 110,893,418	M276V	probably benign	Het
Gm8797	A	T	3: 5,750,967	T22S	probably benign	Het
Hao1	T	C	2: 134,530,765	S108G	probably damaging	Het
Hdac4	C	A	1: 92,002,213	A184S	probably damaging	Het
Hikeshi	T	A	7: 89,930,345		probably benign	Het
Hivep2	C	T	10: 14,129,013	R452C	probably benign	Het
Hsdl1	T	C	8: 119,566,430	S68G	probably benign	Het
Kctd20	T	C	17: 28,963,377		probably null	Het
Klf11	T	C	12: 24,655,639	V364A	possibly damaging	Het
Kpna6	A	G	4: 129,657,454	L86P	probably damaging	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lpin1	T	A	12: 16,561,044	N516Y	probably damaging	Het
Lrp2	T	C	2: 69,483,904	Y2161C	probably damaging	Het
Lrrtm3	A	T	10: 64,087,851	C512*	probably null	Het
Mfsd1	T	C	3: 67,599,981	I405T	probably damaging	Het
Msc	T	G	1: 14,755,267	D161A	probably damaging	Het
Mttp	T	C	3: 138,095,080	I755V	probably benign	Het
Ncam1	T	C	9: 49,508,611	T803A	probably damaging	Het
Nlrp14	A	G	7: 107,196,139	I210V	probably benign	Het
Npat	A	T	9: 53,551,630	H108L	probably benign	Het
Nt5dc1	A	G	10: 34,313,707	I329T	possibly damaging	Het
Olfr1417	T	A	19: 11,828,814	I71F	possibly damaging	Het
Olfr638	T	A	7: 103,998,799		probably null	Het
Olfr881	T	C	9: 37,993,182	L230P	possibly damaging	Het
Parm1	C	T	5: 91,594,211	T146I	possibly damaging	Het
Parp2	T	C	14: 50,821,096	Y528H	probably damaging	Het
Pias1	G	T	9: 62,882,052	S624R	probably benign	Het
Ppif	A	G	14: 25,696,064	H95R	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Psg20	A	G	7: 18,684,420	Y141H	probably benign	Het
Rcc1l	A	T	5: 134,176,713	M1K	probably null	Het
Rfpl4b	T	C	10: 38,821,345	K87E	possibly damaging	Het
Rnf113a1	A	C	X: 37,192,187	T266P	probably benign	Het
Scn5a	A	C	9: 119,495,622	I1380S	possibly damaging	Het
Sel1l	A	G	12: 91,814,968		probably null	Het
Slc18a1	T	A	8: 69,040,981	I400L	probably benign	Het
Slc30a3	A	G	5: 31,089,614	S73P	probably damaging	Het
Slc9a5	A	T	8: 105,363,968	N685I	possibly damaging	Het
Tnc	C	T	4: 63,965,604	R1868H	probably benign	Het
Trdmt1	A	G	2: 13,516,013		probably null	Het
Ttyh1	G	T	7: 4,133,222		probably null	Het
Tyms	A	T	5: 30,061,071	D283E	probably benign	Het
Vmn2r110	T	A	17: 20,583,536	Y259F	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r88	C	A	14: 51,413,969	Q255K	probably benign	Het
Vmn2r95	C	T	17: 18,439,293	P100S	probably damaging	Het
Zfp128	A	T	7: 12,890,899	H398L	possibly damaging	Het

Other mutations in Pygm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Pygm	APN	19	6391394	missense	probably benign
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
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
R8967:Pygm	UTSW	19	6384714	missense	probably damaging	1.00
R9331:Pygm	UTSW	19	6398099	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTACAAGGTGAGGGGTCC -3'
(R):5'- TCACACTAGGCATCAGGACCTAG -3'

Sequencing Primer
(F):5'- GTGAGGGGTCCAGCGGC -3'
(R):5'- CTAGGCATCAGGACCTAGAGACTG -3'

Posted On

2018-09-12