Mutagenetix > Incidental Mutations

Incidental Mutation 'R1828:Pygm'

207057

Institutional Source

Beutler Lab

Gene Symbol

Pygm

Ensembl Gene

ENSMUSG00000032648

Gene Name

muscle glycogen phosphorylase

Synonyms

MMRRC Submission

039855-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1828 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

6384399-6398459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6397607 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 648 (I648T)

Ref Sequence

ENSEMBL: ENSMUSP00000109111 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035269
AA Change: I736T

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: I736T

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

possibly damaging
Transcript: ENSMUST00000113483
AA Change: I648T

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: I648T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139775

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: 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: 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: 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: 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: 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

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

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 40,880,071	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,660,317		noncoding transcript	Het
Abca3	A	G	17: 24,366,197	D144G	probably benign	Het
Anxa2	T	A	9: 69,482,978	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,462,664	I267N	probably damaging	Het
Asb14	A	T	14: 26,911,840	D334V	possibly damaging	Het
Batf3	A	G	1: 191,098,517	N20S	probably benign	Het
BC067074	T	A	13: 113,368,808	L2157Q	probably damaging	Het
Bub1b	A	G	2: 118,638,439	H895R	probably benign	Het
C1qtnf12	G	A	4: 155,965,703		probably null	Het
Cars	T	C	7: 143,576,648	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,107,481	A527T	probably damaging	Het
Ccdc92	T	C	5: 124,836,178	N96D	probably benign	Het
Ceacam18	T	A	7: 43,639,456	D210E	probably benign	Het
Cenpe	A	G	3: 135,246,496	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,791,724		probably null	Het
Cldn19	A	G	4: 119,255,793	D74G	probably benign	Het
Clec12a	A	G	6: 129,353,799	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,503,968	Q78L	probably benign	Het
Crot	T	C	5: 8,969,080	N491S	probably benign	Het
Ctr9	A	G	7: 111,043,958		probably null	Het
Cyp4f14	T	G	17: 32,911,235	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240	V191I	probably benign	Het
Dnah10	A	T	5: 124,761,279	N1124I	probably benign	Het
Duox1	T	A	2: 122,347,380	Y1548*	probably null	Het
E430018J23Rik	T	A	7: 127,391,909	H302L	probably damaging	Het
Epdr1	G	A	13: 19,594,603	Q6*	probably null	Het
Erbin	A	G	13: 103,860,069		probably null	Het
Ero1l	A	T	14: 45,287,760	I436K	probably damaging	Het
Exph5	A	T	9: 53,376,641	Q1674L	possibly damaging	Het
Fat4	A	T	3: 38,983,458	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,283,272	V763A	probably damaging	Het
Gm8251	A	T	1: 44,057,074	N1621K	possibly damaging	Het
Golim4	G	A	3: 75,902,438	T216I	probably damaging	Het
Gpr83	G	T	9: 14,868,333	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,007,703		probably null	Het
Gtf3c5	T	C	2: 28,579,682	Y70C	probably damaging	Het
Hao1	T	A	2: 134,530,664	R141S	probably benign	Het
Hecw2	T	C	1: 53,926,023	D548G	probably benign	Het
Hr	G	A	14: 70,572,037		probably null	Het
Hrg	A	C	16: 22,956,103	E161A	probably damaging	Het
Hydin	A	T	8: 110,510,894	N1933I	probably benign	Het
Itpr2	A	G	6: 146,328,332	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,330,929	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,680,240		probably null	Het
Mgat5b	C	A	11: 116,977,788	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,612,117	V999A	probably benign	Het
Mttp	G	T	3: 138,107,280	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 172,071,471		probably null	Het
Nexn	A	G	3: 152,242,768	I386T	probably damaging	Het
Nrip3	A	G	7: 109,766,556	S85P	probably benign	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr1202	A	T	2: 88,818,058	I296F	probably benign	Het
Olfr126	C	T	17: 37,851,075	A161V	probably benign	Het
Olfr32	A	G	2: 90,138,587	L184S	probably damaging	Het
Olfr508	G	T	7: 108,630,648	V219F	possibly damaging	Het
Olfr543	A	G	7: 102,477,513	L119P	probably damaging	Het
Olr1	T	C	6: 129,488,932	N37S	possibly damaging	Het
Pax4	T	C	6: 28,443,447	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,295,985	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,733,003	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,280,750	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,819,282	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Rab4a	A	T	8: 123,823,826	K15I	probably damaging	Het
Rasa3	T	C	8: 13,585,035	E428G	probably benign	Het
Rnf182	G	A	13: 43,668,534	W187*	probably null	Het
Rpl3	C	T	15: 80,080,390	V222M	possibly damaging	Het
Rtl9	C	T	X: 143,103,015	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,526,121	I91F	probably benign	Het
Sfswap	C	T	5: 129,513,084	T215I	probably damaging	Het
Slit2	A	G	5: 48,304,030	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,117,491	V44I	probably benign	Het
Tex33	T	C	15: 78,386,388	Y60C	possibly damaging	Het
Tmem127	G	A	2: 127,256,174		probably null	Het
Tpd52	G	T	3: 8,947,519	N59K	probably damaging	Het
Trpc3	G	A	3: 36,638,546	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,861,124	V312D	probably damaging	Het
Xirp2	A	G	2: 67,515,238	N2608D	possibly damaging	Het
Zscan25	C	A	5: 145,291,048	H507Q	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
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

Predicted Primers

PCR Primer
(F):5'- CCTGAGTGTTTCTATCTACGAAGTG -3'
(R):5'- TCTGTGAGGTCAAAGGCCAG -3'

Sequencing Primer
(F):5'- CTATCTACGAAGTGGTTGGGAGAGC -3'
(R):5'- AGGTCAAAGGCCAGGTCCTTG -3'

Posted On

2014-06-23