Mutagenetix > Incidental Mutation

Incidental Mutation 'R0321:Phkg1'

35857

Institutional Source

Beutler Lab

Gene Symbol

Phkg1

Ensembl Gene

ENSMUSG00000025537

Gene Name

phosphorylase kinase gamma 1

Synonyms

MMRRC Submission

038531-MU

Accession Numbers

Essential gene?

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

Stock #

R0321 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

129892272-129907953 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 129898365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000122040 (fasta)

Gene Model

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

AlphaFold

P07934

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026617
AA Change: M107K

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537
AA Change: M107K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000140667
AA Change: M107K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537
AA Change: M107K

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

noncoding transcript
Transcript: ENSMUST00000154495

Predicted Effect

probably null
Transcript: ENSMUST00000154932
AA Change: M1K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122040
Gene: ENSMUSG00000025537
AA Change: M1K

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

noncoding transcript
Transcript: ENSMUST00000200832

Meta Mutation Damage Score

0.6564

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,620 (GRCm39)	T353A	probably benign	Het
4933402N03Rik	T	A	7: 130,747,956 (GRCm39)	Y12F	probably benign	Het
Acbd3	T	G	1: 180,579,870 (GRCm39)	F505V	probably damaging	Het
Acod1	T	C	14: 103,292,565 (GRCm39)	V363A	probably benign	Het
Adam28	T	C	14: 68,855,200 (GRCm39)	Q647R	probably damaging	Het
Akr1c18	T	A	13: 4,185,243 (GRCm39)	L296F	probably damaging	Het
Ap1b1	G	A	11: 4,982,464 (GRCm39)	A588T	probably benign	Het
Armc8	A	T	9: 99,415,230 (GRCm39)	I150K	probably damaging	Het
Bahcc1	T	C	11: 120,164,251 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,960,937 (GRCm39)		probably null	Het
Carmil3	C	A	14: 55,739,698 (GRCm39)	D928E	possibly damaging	Het
Ccrl2	T	C	9: 110,885,279 (GRCm39)	N73S	probably damaging	Het
Cdk9	C	A	2: 32,602,698 (GRCm39)		probably benign	Het
Cel	G	T	2: 28,451,160 (GRCm39)	Q66K	probably benign	Het
D930028M14Rik	T	A	7: 24,854,991 (GRCm39)		noncoding transcript	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Dlg1	T	C	16: 31,676,854 (GRCm39)	V801A	probably damaging	Het
Dnah10	A	G	5: 124,900,416 (GRCm39)	D3834G	probably benign	Het
Dnajc15	C	T	14: 78,112,273 (GRCm39)	A23T	possibly damaging	Het
Ell2	T	A	13: 75,910,007 (GRCm39)	L119Q	probably damaging	Het
Epha2	T	C	4: 141,035,716 (GRCm39)	W51R	probably damaging	Het
F10	T	C	8: 13,103,413 (GRCm39)	F266L	possibly damaging	Het
Fam110a	T	C	2: 151,812,587 (GRCm39)	N61S	probably benign	Het
Fam83c	C	T	2: 155,671,620 (GRCm39)	S605N	probably benign	Het
Fbxw15	C	T	9: 109,394,453 (GRCm39)	V121I	probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gfi1b	A	G	2: 28,503,897 (GRCm39)	F101S	probably damaging	Het
Gimap5	C	G	6: 48,727,449 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,385,699 (GRCm39)		probably null	Het
Gsn	T	C	2: 35,180,408 (GRCm39)	F188L	probably benign	Het
Hivep3	T	A	4: 119,952,788 (GRCm39)	I368N	possibly damaging	Het
Itih3	T	A	14: 30,634,063 (GRCm39)	I153F	probably damaging	Het
Kdm8	A	T	7: 125,060,178 (GRCm39)	Q360L	probably damaging	Het
Lars1	T	C	18: 42,335,697 (GRCm39)	K1140E	probably damaging	Het
Mocs1	A	G	17: 49,740,286 (GRCm39)	Y71C	probably damaging	Het
Mroh5	C	T	15: 73,661,892 (GRCm39)	G433E	probably damaging	Het
Mrpl45	T	A	11: 97,217,764 (GRCm39)		probably benign	Het
Mtcl1	T	A	17: 66,686,426 (GRCm39)	T827S	probably damaging	Het
Muc5b	T	C	7: 141,415,972 (GRCm39)	S2973P	probably benign	Het
Mynn	T	C	3: 30,661,706 (GRCm39)	S263P	probably benign	Het
Myo1f	A	C	17: 33,811,986 (GRCm39)	D595A	probably benign	Het
Necab1	A	T	4: 14,960,083 (GRCm39)	I288N	probably damaging	Het
Nutm2	T	G	13: 50,626,991 (GRCm39)	M382R	probably damaging	Het
Oprm1	T	C	10: 6,779,183 (GRCm39)	S131P	probably damaging	Het
Pcsk9	A	G	4: 106,301,891 (GRCm39)	S619P	probably benign	Het
Pigc	C	T	1: 161,798,668 (GRCm39)	Q217*	probably null	Het
Pik3r4	T	A	9: 105,525,906 (GRCm39)	F259I	probably damaging	Het
Pkdcc	A	T	17: 83,529,541 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prtg	A	T	9: 72,755,307 (GRCm39)	I259F	possibly damaging	Het
Prune2	T	G	19: 17,098,291 (GRCm39)	L1265R	possibly damaging	Het
Prune2	C	T	19: 17,099,818 (GRCm39)	A1774V	probably benign	Het
Rcn3	A	G	7: 44,738,139 (GRCm39)		probably benign	Het
Rnf213	C	T	11: 119,328,931 (GRCm39)	Q2067*	probably null	Het
Sec14l1	T	A	11: 117,041,568 (GRCm39)		probably benign	Het
Serpinb3a	C	T	1: 106,975,212 (GRCm39)	W198*	probably null	Het
Smpdl3b	A	T	4: 132,468,755 (GRCm39)	V154E	probably damaging	Het
Spag17	T	C	3: 100,008,719 (GRCm39)	S1950P	probably damaging	Het
Sprr1a	T	C	3: 92,391,609 (GRCm39)	T131A	probably benign	Het
Tatdn2	T	G	6: 113,686,462 (GRCm39)	L690W	probably damaging	Het
Tbc1d1	T	C	5: 64,496,937 (GRCm39)	F864L	probably damaging	Het
Tmem8b	C	A	4: 43,674,444 (GRCm39)	R243S	probably damaging	Het
Tnfrsf11a	T	A	1: 105,772,583 (GRCm39)	C623*	probably null	Het
Tprg1l	T	C	4: 154,243,812 (GRCm39)	N115D	probably damaging	Het
Ube2t	C	T	1: 134,895,538 (GRCm39)	A4V	possibly damaging	Het
Vps41	G	A	13: 19,026,465 (GRCm39)		probably benign	Het
Wdr17	C	T	8: 55,149,303 (GRCm39)		probably null	Het
Wwc1	G	A	11: 35,732,637 (GRCm39)	Q1024*	probably null	Het
Zfand5	T	A	19: 21,253,879 (GRCm39)	N27K	probably damaging	Het
Zfp142	A	T	1: 74,608,873 (GRCm39)	C1641S	probably damaging	Het
Zfyve16	A	G	13: 92,629,042 (GRCm39)	I1465T	probably damaging	Het
Zswim1	G	A	2: 164,667,947 (GRCm39)	G400S	probably benign	Het
Zswim3	C	T	2: 164,662,279 (GRCm39)	A253V	possibly damaging	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
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
R9627:Phkg1	UTSW	5	129,893,376 (GRCm39)	nonsense	probably null
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'- ACCACACTGCATACGATGTTAGAGC -3'
(R):5'- ACAGATCCCAGGGTGCCATGAATG -3'

Sequencing Primer
(F):5'- GTACGGTCTAGCATCTAGAATGTAG -3'
(R):5'- AGGCAGGGACACCATATTTTC -3'

Posted On

2013-05-09