Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01571:Pygb'

93293

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pygb

Ensembl Gene

ENSMUSG00000033059

Gene Name

brain glycogen phosphorylase

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

150786735-150831758 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150830473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 831 (S831P)

Ref Sequence

ENSEMBL: ENSMUSP00000035743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045441] [ENSMUST00000056149] [ENSMUST00000141899]

AlphaFold

Q8CI94

Predicted Effect

probably benign
Transcript: ENSMUST00000045441
AA Change: S831P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
AA Change: S831P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000056149

SMART Domains

Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046

Domain	Start	End	E-Value	Type
low complexity region	15	36	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Hydrolase_4	165	297	1.2e-16	PFAM
Pfam:Abhydrolase_1	169	302	1.6e-13	PFAM
Pfam:Abhydrolase_5	170	359	2.5e-22	PFAM
Pfam:Abhydrolase_6	171	363	1.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135717

Predicted Effect

probably benign
Transcript: ENSMUST00000141899

SMART Domains

Protein: ENSMUSP00000122763
Gene: ENSMUSG00000032046

Domain	Start	End	E-Value	Type
low complexity region	15	36	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Abhydrolase_5	170	295	1.9e-16	PFAM
Pfam:Abhydrolase_6	171	293	3.8e-15	PFAM
Pfam:Abhydrolase_3	171	295	1.1e-6	PFAM
Pfam:Abhydrolase_1	198	271	1.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156641

Coding Region Coverage

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 is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Cep164	T	C	9: 45,794,338	Q127R	possibly damaging	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Chd5	T	A	4: 152,384,115		probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Cyp4a12b	A	G	4: 115,438,157	I487V	probably benign	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Klk1	T	C	7: 44,228,596	V92A	probably damaging	Het
Lypla1	T	C	1: 4,844,988	I222T	probably benign	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psg21	T	C	7: 18,654,825	D114G	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Sgo2a	T	C	1: 58,017,974	S1106P	probably damaging	Het
Slc5a5	G	A	8: 70,891,332		probably benign	Het
Tekt4	A	G	17: 25,476,384	D397G	probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	Het

Other mutations in Pygb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Pygb	APN	2	150819913	missense	probably benign	0.00
IGL01395:Pygb	APN	2	150801583	missense	probably benign	0.04
IGL01960:Pygb	APN	2	150813483	missense	probably benign	0.00
IGL03118:Pygb	APN	2	150820811	missense	probably benign	0.01
R0106:Pygb	UTSW	2	150806203	missense	probably benign	0.02
R0106:Pygb	UTSW	2	150806203	missense	probably benign	0.02
R0423:Pygb	UTSW	2	150823984	missense	probably benign
R0545:Pygb	UTSW	2	150815706	missense	probably benign	0.00
R0674:Pygb	UTSW	2	150815134	splice site	probably null
R1052:Pygb	UTSW	2	150786938	missense	probably benign	0.00
R1590:Pygb	UTSW	2	150817663	missense	possibly damaging	0.94
R1706:Pygb	UTSW	2	150827147	missense	probably damaging	1.00
R1786:Pygb	UTSW	2	150816772	missense	probably damaging	0.98
R2405:Pygb	UTSW	2	150820775	missense	probably benign	0.04
R3522:Pygb	UTSW	2	150828553	missense	probably benign	0.07
R4082:Pygb	UTSW	2	150826471	critical splice donor site	probably null
R4319:Pygb	UTSW	2	150815614	splice site	probably benign
R4662:Pygb	UTSW	2	150815116	missense	probably benign
R5072:Pygb	UTSW	2	150801578	missense	probably damaging	1.00
R5665:Pygb	UTSW	2	150820888	splice site	probably null
R5874:Pygb	UTSW	2	150786878	missense	probably benign	0.11
R5910:Pygb	UTSW	2	150815700	missense	probably benign	0.00
R6610:Pygb	UTSW	2	150823966	splice site	probably null
R6820:Pygb	UTSW	2	150816754	missense	possibly damaging	0.88
R7348:Pygb	UTSW	2	150786983	missense	probably benign	0.10
R7920:Pygb	UTSW	2	150787002	missense	possibly damaging	0.92
R7936:Pygb	UTSW	2	150815669	missense	probably benign	0.28
R9226:Pygb	UTSW	2	150820861	missense	possibly damaging	0.58
R9308:Pygb	UTSW	2	150826377	missense	probably benign	0.15

Posted On

2013-12-09