Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01700:Phkb'

104430

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

86567588-86788005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86744094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 581 (Q581L)

Ref Sequence

ENSEMBL: ENSMUSP00000050788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053771]

AlphaFold

Q7TSH2

Predicted Effect

probably benign
Transcript: ENSMUST00000053771
AA Change: Q581L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: Q581L

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	39	870	1.5e-111	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000160731
AA Change: Q11L

SMART Domains

Protein: ENSMUSP00000125051
Gene: ENSMUSG00000036879
AA Change: Q11L

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	26	301	2.2e-23	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,319,549 (GRCm39)	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,486,312 (GRCm39)	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,582,198 (GRCm39)	T276A	probably benign	Het
Ankrd55	T	C	13: 112,517,702 (GRCm39)	I556T	probably benign	Het
Aqp4	A	G	18: 15,532,922 (GRCm39)	I57T	probably benign	Het
Atp1a1	T	C	3: 101,501,574 (GRCm39)	D43G	possibly damaging	Het
Cyld	G	A	8: 89,433,727 (GRCm39)	R172H	probably damaging	Het
Ear2	A	T	14: 44,340,716 (GRCm39)	R125*	probably null	Het
Efcab9	T	C	11: 32,477,451 (GRCm39)	R24G	probably damaging	Het
F7	C	A	8: 13,078,685 (GRCm39)	Q39K	probably benign	Het
Galntl6	A	T	8: 58,411,494 (GRCm39)		probably benign	Het
Kcnj5	A	G	9: 32,233,925 (GRCm39)	V130A	probably damaging	Het
Magee2	A	G	X: 103,899,574 (GRCm39)	I359T	possibly damaging	Het
Myh1	T	G	11: 67,102,238 (GRCm39)	I843S	probably damaging	Het
Nfat5	T	A	8: 108,065,762 (GRCm39)	M98K	probably damaging	Het
Nrip3	T	A	7: 109,361,074 (GRCm39)	N200I	possibly damaging	Het
Or6c219	A	T	10: 129,781,810 (GRCm39)	N40K	probably damaging	Het
Plxdc2	T	C	2: 16,516,926 (GRCm39)	V69A	probably benign	Het
Pou3f1	G	T	4: 124,552,650 (GRCm39)	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,369,643 (GRCm39)	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,079,337 (GRCm39)	P27H	probably damaging	Het
Pvr	C	A	7: 19,643,157 (GRCm39)	A359S	probably benign	Het
Rasal1	A	T	5: 120,814,882 (GRCm39)	I711F	probably benign	Het
Ror1	C	T	4: 100,266,968 (GRCm39)	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,479,904 (GRCm39)	I638L	unknown	Het
Slfn10-ps	C	T	11: 82,919,938 (GRCm39)		noncoding transcript	Het
Sptbn4	A	G	7: 27,103,693 (GRCm39)	L1176P	probably damaging	Het
Usp21	A	T	1: 171,110,975 (GRCm39)	F421I	probably damaging	Het
Utp25	G	A	1: 192,800,573 (GRCm39)	P416S	probably damaging	Het
Vmn1r61	T	A	7: 5,614,202 (GRCm39)	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,722,221 (GRCm39)	R364*	probably null	Het
Vps29	A	G	5: 122,500,930 (GRCm39)	Y165C	probably damaging	Het
Wdfy4	T	C	14: 32,742,195 (GRCm39)		probably benign	Het
Wdr24	A	G	17: 26,044,802 (GRCm39)	D219G	probably damaging	Het
Xpo1	T	C	11: 23,226,422 (GRCm39)		probably benign	Het
Zfp831	C	A	2: 174,486,711 (GRCm39)	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,843,658 (GRCm39)		probably benign	Het

Other mutations in Phkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Phkb	APN	8	86,684,216 (GRCm39)	missense	probably benign	0.42
IGL01126:Phkb	APN	8	86,672,730 (GRCm39)	missense	probably benign	0.12
IGL01761:Phkb	APN	8	86,745,693 (GRCm39)	missense	probably benign	0.01
IGL02404:Phkb	APN	8	86,604,744 (GRCm39)	missense	possibly damaging	0.94
IGL02672:Phkb	APN	8	86,668,987 (GRCm39)	missense	probably benign
IGL02682:Phkb	APN	8	86,602,275 (GRCm39)	makesense	probably null
IGL02693:Phkb	APN	8	86,668,863 (GRCm39)	missense	probably damaging	1.00
IGL02798:Phkb	APN	8	86,770,406 (GRCm39)	missense	probably benign
IGL02888:Phkb	APN	8	86,662,101 (GRCm39)	critical splice donor site	probably null
IGL03106:Phkb	APN	8	86,745,095 (GRCm39)	splice site	probably benign
PIT4544001:Phkb	UTSW	8	86,738,266 (GRCm39)	missense	probably benign	0.42
R0088:Phkb	UTSW	8	86,669,020 (GRCm39)	critical splice donor site	probably null
R0107:Phkb	UTSW	8	86,743,560 (GRCm39)	missense	probably benign	0.01
R0504:Phkb	UTSW	8	86,783,153 (GRCm39)	missense	probably benign
R0569:Phkb	UTSW	8	86,744,031 (GRCm39)	missense	probably damaging	1.00
R0671:Phkb	UTSW	8	86,602,322 (GRCm39)	missense	probably damaging	0.97
R0894:Phkb	UTSW	8	86,744,070 (GRCm39)	missense	probably damaging	1.00
R1491:Phkb	UTSW	8	86,602,286 (GRCm39)	missense	possibly damaging	0.90
R1502:Phkb	UTSW	8	86,785,968 (GRCm39)	missense	possibly damaging	0.69
R1595:Phkb	UTSW	8	86,753,182 (GRCm39)	splice site	probably benign
R1686:Phkb	UTSW	8	86,748,278 (GRCm39)	missense	probably benign
R1913:Phkb	UTSW	8	86,628,549 (GRCm39)	missense	possibly damaging	0.95
R1919:Phkb	UTSW	8	86,648,790 (GRCm39)	missense	probably benign	0.17
R1968:Phkb	UTSW	8	86,697,580 (GRCm39)	missense	probably benign	0.07
R2008:Phkb	UTSW	8	86,783,096 (GRCm39)	missense	probably damaging	1.00
R2051:Phkb	UTSW	8	86,776,450 (GRCm39)	critical splice donor site	probably null
R2148:Phkb	UTSW	8	86,744,115 (GRCm39)	missense	probably damaging	0.96
R2305:Phkb	UTSW	8	86,770,431 (GRCm39)	missense	possibly damaging	0.80
R3801:Phkb	UTSW	8	86,648,858 (GRCm39)	nonsense	probably null
R3804:Phkb	UTSW	8	86,648,858 (GRCm39)	nonsense	probably null
R4159:Phkb	UTSW	8	86,748,162 (GRCm39)	splice site	probably null
R4624:Phkb	UTSW	8	86,575,341 (GRCm39)	intron	probably benign
R4833:Phkb	UTSW	8	86,628,540 (GRCm39)	missense	probably damaging	1.00
R5017:Phkb	UTSW	8	86,776,438 (GRCm39)	missense	probably benign
R5169:Phkb	UTSW	8	86,623,120 (GRCm39)	missense	probably benign	0.01
R5337:Phkb	UTSW	8	86,604,874 (GRCm39)	missense	probably damaging	1.00
R5391:Phkb	UTSW	8	86,744,097 (GRCm39)	missense	probably damaging	1.00
R5395:Phkb	UTSW	8	86,744,097 (GRCm39)	missense	probably damaging	1.00
R5480:Phkb	UTSW	8	86,648,811 (GRCm39)	missense	probably damaging	1.00
R5538:Phkb	UTSW	8	86,648,756 (GRCm39)	missense	possibly damaging	0.80
R5623:Phkb	UTSW	8	86,569,677 (GRCm39)	unclassified	probably benign
R5753:Phkb	UTSW	8	86,604,859 (GRCm39)	missense	probably damaging	1.00
R5909:Phkb	UTSW	8	86,748,076 (GRCm39)	critical splice donor site	probably null
R5929:Phkb	UTSW	8	86,697,543 (GRCm39)	missense	probably benign	0.01
R6093:Phkb	UTSW	8	86,668,958 (GRCm39)	missense	probably damaging	1.00
R6320:Phkb	UTSW	8	86,602,327 (GRCm39)	missense	probably benign	0.00
R6324:Phkb	UTSW	8	86,745,171 (GRCm39)	missense	probably benign	0.00
R6626:Phkb	UTSW	8	86,648,780 (GRCm39)	missense	probably damaging	0.96
R6687:Phkb	UTSW	8	86,756,175 (GRCm39)	missense	probably damaging	1.00
R6848:Phkb	UTSW	8	86,756,246 (GRCm39)	missense	probably damaging	0.99
R7228:Phkb	UTSW	8	86,569,636 (GRCm39)	unclassified	probably benign
R7260:Phkb	UTSW	8	86,604,759 (GRCm39)	missense	probably benign	0.07
R7271:Phkb	UTSW	8	86,770,418 (GRCm39)	missense	probably damaging	1.00
R7314:Phkb	UTSW	8	86,669,021 (GRCm39)	splice site	probably null
R7586:Phkb	UTSW	8	86,756,226 (GRCm39)	missense	probably damaging	1.00
R7654:Phkb	UTSW	8	86,667,516 (GRCm39)	missense	possibly damaging	0.91
R7958:Phkb	UTSW	8	86,748,292 (GRCm39)	missense	probably benign	0.00
R8269:Phkb	UTSW	8	86,756,211 (GRCm39)	missense	probably benign	0.42
R8811:Phkb	UTSW	8	86,745,156 (GRCm39)	missense	possibly damaging	0.58
R8967:Phkb	UTSW	8	86,756,063 (GRCm39)	intron	probably benign
R9176:Phkb	UTSW	8	86,697,623 (GRCm39)	missense	probably damaging	0.96
R9350:Phkb	UTSW	8	86,743,493 (GRCm39)	nonsense	probably null
R9465:Phkb	UTSW	8	86,623,059 (GRCm39)	missense	probably damaging	1.00
R9480:Phkb	UTSW	8	86,684,216 (GRCm39)	missense	probably benign	0.42
R9490:Phkb	UTSW	8	86,628,525 (GRCm39)	missense	probably damaging	0.97
R9700:Phkb	UTSW	8	86,567,696 (GRCm39)	missense	probably benign	0.01
R9708:Phkb	UTSW	8	86,783,119 (GRCm39)	missense	probably benign	0.02
R9716:Phkb	UTSW	8	86,604,798 (GRCm39)	missense	probably null	0.00
X0021:Phkb	UTSW	8	86,756,264 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21