Mutagenetix > Incidental Mutation

Incidental Mutation 'R9627:Phkg1'

725210

Institutional Source

Beutler Lab

Gene Symbol

Phkg1

Ensembl Gene

ENSMUSG00000025537

Gene Name

phosphorylase kinase gamma 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9627 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129892272-129907953 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 129893376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 358 (W358*)

Ref Sequence

ENSEMBL: ENSMUSP00000026617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026617] [ENSMUST00000137357] [ENSMUST00000140667] [ENSMUST00000154932] [ENSMUST00000171300]

AlphaFold

P07934

Predicted Effect

probably null
Transcript: ENSMUST00000026617
AA Change: W358*

SMART Domains

Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537
AA Change: W358*

Domain	Start	End	E-Value	Type
S_TKc	20	288	3.79e-106	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137357

SMART Domains

Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:FGE-sulfatase	25	136	6.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140667

SMART Domains

Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	20	143	4.1e-9	PFAM
Pfam:Pkinase	20	144	3.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154932

SMART Domains

Protein: ENSMUSP00000122040
Gene: ENSMUSG00000025537

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	95	3.6e-13	PFAM
Pfam:Pkinase	1	100	7.3e-32	PFAM
Pfam:Kdo	3	77	8.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171300

SMART Domains

Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:FGE-sulfatase	34	299	3.9e-88	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,487,834 (GRCm39)		probably benign	Het
Abca14	T	C	7: 119,854,530 (GRCm39)	V898A	probably benign	Het
Adamtsl1	A	T	4: 86,306,762 (GRCm39)	D1400V	possibly damaging	Het
Akap6	T	A	12: 53,151,413 (GRCm39)	M1159K		Het
Atg13	C	A	2: 91,509,098 (GRCm39)	G446*	probably null	Het
Atp6v1g2	G	T	17: 35,454,956 (GRCm39)		probably null	Het
Bmp2k	C	T	5: 97,201,028 (GRCm39)	A316V	possibly damaging	Het
Ccdc34	AAGA	AA	2: 109,871,010 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,460,557 (GRCm39)	D1173G	probably benign	Het
Cln6	T	A	9: 62,754,303 (GRCm39)	I115N	probably damaging	Het
Cma1	T	C	14: 56,181,289 (GRCm39)	T39A	probably benign	Het
Cpsf1	A	T	15: 76,484,088 (GRCm39)	M744K	probably damaging	Het
Csf1r	A	G	18: 61,260,972 (GRCm39)	Y721C	probably damaging	Het
Dcaf12	A	G	4: 41,293,976 (GRCm39)	L387P	probably benign	Het
Ephb1	T	C	9: 101,918,468 (GRCm39)	E347G	possibly damaging	Het
Fig4	T	A	10: 41,108,178 (GRCm39)	H674L	probably benign	Het
Foxa3	T	A	7: 18,748,458 (GRCm39)	K223*	probably null	Het
Gimap7	T	C	6: 48,700,600 (GRCm39)	V62A	probably damaging	Het
Glrx3	T	A	7: 137,046,755 (GRCm39)	V49E	probably benign	Het
Greb1	T	C	12: 16,756,167 (GRCm39)	Y823C	probably damaging	Het
H3c7	G	T	13: 23,728,793 (GRCm39)	V47L	possibly damaging	Het
Hapln4	C	A	8: 70,539,520 (GRCm39)	R184S	possibly damaging	Het
Hmcn1	C	T	1: 150,506,054 (GRCm39)	C3824Y	probably damaging	Het
Hrnr	T	C	3: 93,233,235 (GRCm39)	S1158P	unknown	Het
Itln1	A	G	1: 171,360,985 (GRCm39)	S36P	probably benign	Het
Kcnh5	A	C	12: 75,160,990 (GRCm39)	I306S	probably damaging	Het
Kctd19	T	A	8: 106,113,997 (GRCm39)	M559L	probably benign	Het
Kif2a	A	G	13: 107,158,558 (GRCm39)	I9T	possibly damaging	Het
Klra5	G	A	6: 129,883,701 (GRCm39)	T142I	probably benign	Het
Ldlrad3	A	G	2: 101,785,423 (GRCm39)	V184A	probably damaging	Het
Lrrc27	T	C	7: 138,808,582 (GRCm39)		probably benign	Het
Mark1	A	G	1: 184,646,817 (GRCm39)	V340A	probably benign	Het
Mrps31	T	C	8: 22,901,558 (GRCm39)	V26A	probably benign	Het
Mtrr	G	A	13: 68,725,756 (GRCm39)	L118F	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nbas	G	T	12: 13,350,203 (GRCm39)	V285F	possibly damaging	Het
Nfrkb	T	C	9: 31,321,189 (GRCm39)	L675P	possibly damaging	Het
Or10v9	T	A	19: 11,832,910 (GRCm39)	I136F	possibly damaging	Het
Or1q1	T	A	2: 36,887,665 (GRCm39)	V281E		Het
Or5k15	T	A	16: 58,709,771 (GRCm39)	I271L	probably benign	Het
Plekhj1	A	C	10: 80,633,494 (GRCm39)	I51S	possibly damaging	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Prkg2	T	C	5: 99,079,869 (GRCm39)	*763W	probably null	Het
Rhobtb2	A	G	14: 70,034,349 (GRCm39)	F292S	probably damaging	Het
Rlf	A	T	4: 121,007,002 (GRCm39)	C769*	probably null	Het
Rmi1	C	A	13: 58,557,366 (GRCm39)	D538E	possibly damaging	Het
Scn4a	C	T	11: 106,212,839 (GRCm39)	V1389I	probably benign	Het
Serpinc1	A	T	1: 160,821,101 (GRCm39)	K183*	probably null	Het
Setd4	A	T	16: 93,380,562 (GRCm39)	M399K	possibly damaging	Het
Setx	T	C	2: 29,034,661 (GRCm39)	M382T	probably damaging	Het
Slc6a9	A	G	4: 117,721,210 (GRCm39)	Y208C	probably damaging	Het
Slfn2	A	T	11: 82,960,367 (GRCm39)	K115N		Het
Snrk	A	T	9: 121,966,427 (GRCm39)	K117*	probably null	Het
Spata31	A	G	13: 65,065,409 (GRCm39)	Y38C	possibly damaging	Het
Stab2	T	C	10: 86,793,704 (GRCm39)	T464A	probably damaging	Het
Tagap1	C	T	17: 7,224,327 (GRCm39)	G123D	probably benign	Het
Tas2r136	T	C	6: 132,754,948 (GRCm39)	K60E	possibly damaging	Het
Tasor	T	C	14: 27,194,123 (GRCm39)	S1108P	probably benign	Het
Tmem200b	A	C	4: 131,649,437 (GRCm39)	Y119S	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Wwp2	T	G	8: 108,278,959 (GRCm39)	L578W	probably damaging	Het
Zfp53	T	A	17: 21,728,745 (GRCm39)	C259*	probably null	Het

Other mutations in Phkg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Phkg1	APN	5	129,893,914 (GRCm39)	nonsense	probably null
IGL01116:Phkg1	APN	5	129,893,813 (GRCm39)	splice site	probably null
IGL01713:Phkg1	APN	5	129,895,714 (GRCm39)	missense	probably benign	0.01
IGL02246:Phkg1	APN	5	129,893,479 (GRCm39)	missense	probably damaging	0.97
IGL02803:Phkg1	APN	5	129,894,895 (GRCm39)	missense	possibly damaging	0.95
IGL02954:Phkg1	APN	5	129,894,910 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Phkg1	UTSW	5	129,894,772 (GRCm39)	missense	probably benign	0.02
R0041:Phkg1	UTSW	5	129,903,103 (GRCm39)	missense	probably benign
R0140:Phkg1	UTSW	5	129,893,449 (GRCm39)	missense	probably benign	0.01
R0321:Phkg1	UTSW	5	129,898,365 (GRCm39)	start codon destroyed	probably null	1.00
R0646:Phkg1	UTSW	5	129,893,394 (GRCm39)	splice site	probably null
R1142:Phkg1	UTSW	5	129,902,073 (GRCm39)	missense	possibly damaging	0.92
R1446:Phkg1	UTSW	5	129,902,055 (GRCm39)	critical splice donor site	probably null
R2350:Phkg1	UTSW	5	129,893,373 (GRCm39)	missense	probably damaging	1.00
R2896:Phkg1	UTSW	5	129,893,471 (GRCm39)	missense	possibly damaging	0.46
R4773:Phkg1	UTSW	5	129,902,114 (GRCm39)	splice site	probably null
R7236:Phkg1	UTSW	5	129,895,802 (GRCm39)	missense	probably damaging	1.00
R7499:Phkg1	UTSW	5	129,902,109 (GRCm39)	nonsense	probably null
R7658:Phkg1	UTSW	5	129,894,764 (GRCm39)	missense	probably damaging	1.00
R7719:Phkg1	UTSW	5	129,902,699 (GRCm39)	start gained	probably benign
R8686:Phkg1	UTSW	5	129,895,056 (GRCm39)	missense	probably damaging	1.00
R8827:Phkg1	UTSW	5	129,893,894 (GRCm39)	missense	probably benign
R9090:Phkg1	UTSW	5	129,893,863 (GRCm39)	missense	probably benign	0.04
R9271:Phkg1	UTSW	5	129,893,863 (GRCm39)	missense	probably benign	0.04
R9781:Phkg1	UTSW	5	129,895,807 (GRCm39)	missense	probably damaging	1.00
Z1177:Phkg1	UTSW	5	129,895,096 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGCCACCTATTCCTTTGCAG -3'
(R):5'- AAGCCAGCTAAGGTTTCCCG -3'

Sequencing Primer
(F):5'- CAGAAGGCTACTTGGGGCATC -3'
(R):5'- AAGGTTTCCCGACAAGCTTTG -3'

Posted On

2022-09-12