Mutagenetix > Incidental Mutation

Incidental Mutation 'R7430:Pgm1'

576382

Institutional Source

Beutler Lab

Gene Symbol

Pgm1

Ensembl Gene

ENSMUSG00000025791

Gene Name

phosphoglucomutase 1

Synonyms

Pgm1a, Pgm2, 2610020G18Rik, Pgm-2

MMRRC Submission

045508-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

R7430 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99786648-99844491 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 99813192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000099844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058351] [ENSMUST00000102783]

AlphaFold

Q9D0F9

Predicted Effect

probably benign
Transcript: ENSMUST00000058351

SMART Domains

Protein: ENSMUSP00000061227
Gene: ENSMUSG00000025791

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	14	158	1.7e-42	PFAM
Pfam:PGM_PMM_II	193	301	3.3e-20	PFAM
Pfam:PGM_PMM_III	306	420	1.1e-33	PFAM
Pfam:PGM_PMM_IV	436	543	1.1e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102783
AA Change: M1K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099844
Gene: ENSMUSG00000025791
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	32	176	2.3e-37	PFAM
Pfam:PGM_PMM_II	211	319	1.2e-19	PFAM
Pfam:PGM_PMM_III	324	438	3.7e-33	PFAM
Pfam:PGM_PMM_IV	455	561	3.6e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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 an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	C	17: 24,583,932 (GRCm39)		probably null	Het
Ankrd17	C	G	5: 90,443,516 (GRCm39)	E384Q	possibly damaging	Het
Atp8b4	A	T	2: 126,245,291 (GRCm39)	V286E	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC	3: 95,795,481 (GRCm39)		probably benign	Het
Brms1l	T	C	12: 55,892,084 (GRCm39)	L126P	probably damaging	Het
C2cd4d	G	A	3: 94,271,657 (GRCm39)	V308M	possibly damaging	Het
Calcr	A	G	6: 3,708,586 (GRCm39)	L200S	probably damaging	Het
Card6	G	T	15: 5,128,682 (GRCm39)	Q905K	probably benign	Het
Chka	A	G	19: 3,942,787 (GRCm39)	Y415C	probably damaging	Het
Cimap3	T	C	3: 105,921,834 (GRCm39)	R30G	probably benign	Het
Cnih1	C	T	14: 47,017,679 (GRCm39)	V52I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,770 (GRCm39)	M145K	probably damaging	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,550,341 (GRCm39)	E692G	probably damaging	Het
Dnah8	T	C	17: 30,925,363 (GRCm39)	F1266S	probably damaging	Het
Edc4	T	C	8: 106,618,216 (GRCm39)	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,587,848 (GRCm39)	H14Q	probably benign	Het
Fam181b	G	A	7: 92,729,403 (GRCm39)	V59M	probably benign	Het
Fat4	T	A	3: 38,941,599 (GRCm39)	I164N	probably damaging	Het
Fat4	A	G	3: 39,063,793 (GRCm39)	D4583G	probably damaging	Het
Fgb	C	T	3: 82,954,014 (GRCm39)	V75I	probably benign	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Frmd3	A	G	4: 74,063,342 (GRCm39)	D223G	probably damaging	Het
Gclm	G	A	3: 122,039,729 (GRCm39)	R32Q	probably benign	Het
Grsf1	A	T	5: 88,811,086 (GRCm39)	I428N	possibly damaging	Het
Hnrnpll	T	A	17: 80,357,276 (GRCm39)	I247F	probably damaging	Het
Hscb	T	A	5: 110,977,024 (GRCm39)	I223L	probably benign	Het
Ifi204	C	T	1: 173,583,247 (GRCm39)	A324T	probably benign	Het
Itgav	G	A	2: 83,624,602 (GRCm39)	V731M	probably damaging	Het
Loricrin	C	T	3: 91,989,206 (GRCm39)	G27S	unknown	Het
Lpin3	A	G	2: 160,740,586 (GRCm39)	D377G	probably benign	Het
Marveld3	A	G	8: 110,675,100 (GRCm39)	S239P	possibly damaging	Het
Mast3	A	C	8: 71,232,947 (GRCm39)	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,535,297 (GRCm39)	I198M	probably benign	Het
Mup14	C	T	4: 61,259,447 (GRCm39)	G35E	probably damaging	Het
Myh1	C	T	11: 67,096,393 (GRCm39)	Q291*	probably null	Het
Myo1a	T	A	10: 127,542,716 (GRCm39)	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,835,035 (GRCm39)	T794A	probably benign	Het
Nkx6-2	T	C	7: 139,161,916 (GRCm39)	T154A	probably damaging	Het
Or51g2	A	T	7: 102,622,969 (GRCm39)	S77T	probably damaging	Het
Or7g16	T	C	9: 18,726,650 (GRCm39)	*313W	probably null	Het
Ovgp1	G	C	3: 105,893,618 (GRCm39)	A464P	probably damaging	Het
Ovgp1	C	T	3: 105,893,619 (GRCm39)	A464V	possibly damaging	Het
Pde6c	T	A	19: 38,129,887 (GRCm39)	Y266N	probably damaging	Het
Per2	C	A	1: 91,351,705 (GRCm39)	E934*	probably null	Het
Plcb4	T	C	2: 135,810,242 (GRCm39)	Y626H	probably damaging	Het
Postn	T	A	3: 54,277,623 (GRCm39)	V206D	probably damaging	Het
Prss29	T	A	17: 25,540,113 (GRCm39)		probably null	Het
Ptges3l	C	A	11: 101,314,641 (GRCm39)	V85L	possibly damaging	Het
Riok2	T	C	17: 17,607,802 (GRCm39)	L450S	probably benign	Het
Rpap3	A	T	15: 97,586,031 (GRCm39)	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,737,654 (GRCm39)	W576R	probably damaging	Het
Sgk3	A	G	1: 9,942,483 (GRCm39)	D85G	probably benign	Het
Slc2a1	A	G	4: 118,993,510 (GRCm39)	Y449C	probably damaging	Het
Slco1a5	A	T	6: 142,194,438 (GRCm39)	S402T	probably benign	Het
Smad2	T	A	18: 76,421,151 (GRCm39)	V160E	probably damaging	Het
Snx13	T	C	12: 35,183,357 (GRCm39)	V760A	possibly damaging	Het
Sugt1	T	A	14: 79,857,241 (GRCm39)		probably null	Het
Syne2	C	T	12: 75,980,770 (GRCm39)	T1509M	probably damaging	Het
Syne2	T	A	12: 76,087,184 (GRCm39)	L214*	probably null	Het
Tmem120a	T	A	5: 135,764,990 (GRCm39)		probably null	Het
Tmem161b	A	G	13: 84,430,866 (GRCm39)		probably null	Het
Trim33	T	C	3: 103,218,219 (GRCm39)	I256T	possibly damaging	Het
Tspan17	G	A	13: 54,943,785 (GRCm39)	E213K	probably benign	Het
Ttc6	T	A	12: 57,704,888 (GRCm39)	I631N	probably benign	Het
Ttn	T	A	2: 76,641,283 (GRCm39)	L13574F	probably damaging	Het
Tufm	A	G	7: 126,088,299 (GRCm39)	D228G	probably benign	Het
Usf1	T	A	1: 171,245,295 (GRCm39)	S236T	probably benign	Het
Usp39	T	C	6: 72,319,900 (GRCm39)	Y106C	probably damaging	Het
Usp46	T	A	5: 74,163,849 (GRCm39)	Y296F	probably damaging	Het
Vmn2r82	A	G	10: 79,217,087 (GRCm39)	N473S	probably damaging	Het
Washc5	A	T	15: 59,241,762 (GRCm39)	Y51*	probably null	Het
Zbtb47	G	A	9: 121,592,732 (GRCm39)	D351N	probably benign	Het
Zfp763	T	A	17: 33,238,506 (GRCm39)	Y213F	possibly damaging	Het
Zswim5	A	G	4: 116,833,054 (GRCm39)	T596A	possibly damaging	Het

Other mutations in Pgm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Pgm1	APN	4	99,786,803 (GRCm39)	missense	probably damaging	1.00
IGL01468:Pgm1	APN	4	99,819,367 (GRCm39)	missense	possibly damaging	0.82
IGL02013:Pgm1	APN	4	99,841,158 (GRCm39)	splice site	probably benign
IGL02237:Pgm1	APN	4	99,820,707 (GRCm39)	splice site	probably benign
IGL02945:Pgm1	APN	4	99,818,731 (GRCm39)	missense	probably benign
IGL03201:Pgm1	APN	4	99,827,236 (GRCm39)	missense	probably damaging	0.99
IGL03373:Pgm1	APN	4	99,818,741 (GRCm39)	missense	probably damaging	1.00
R0349:Pgm1	UTSW	4	99,820,814 (GRCm39)	missense	probably damaging	1.00
R0683:Pgm1	UTSW	4	99,818,740 (GRCm39)	missense	probably damaging	0.99
R1650:Pgm1	UTSW	4	99,819,276 (GRCm39)	missense	probably benign	0.28
R1650:Pgm1	UTSW	4	99,819,267 (GRCm39)	missense	possibly damaging	0.70
R1741:Pgm1	UTSW	4	99,822,062 (GRCm39)	splice site	probably null
R1759:Pgm1	UTSW	4	99,824,305 (GRCm39)	missense	probably damaging	1.00
R1843:Pgm1	UTSW	4	99,818,675 (GRCm39)	missense	probably damaging	1.00
R3111:Pgm1	UTSW	4	99,813,222 (GRCm39)	missense	probably benign
R4115:Pgm1	UTSW	4	99,819,348 (GRCm39)	nonsense	probably null
R4426:Pgm1	UTSW	4	99,819,337 (GRCm39)	missense	probably benign	0.04
R4748:Pgm1	UTSW	4	99,839,176 (GRCm39)	missense	probably benign	0.24
R4910:Pgm1	UTSW	4	99,820,724 (GRCm39)	missense	probably damaging	1.00
R4920:Pgm1	UTSW	4	99,843,930 (GRCm39)	missense	probably damaging	1.00
R5289:Pgm1	UTSW	4	99,824,266 (GRCm39)	missense	probably damaging	1.00
R5764:Pgm1	UTSW	4	99,822,043 (GRCm39)	missense	probably damaging	1.00
R6199:Pgm1	UTSW	4	99,836,151 (GRCm39)	missense	probably damaging	1.00
R6311:Pgm1	UTSW	4	99,827,237 (GRCm39)	missense	possibly damaging	0.93
R6600:Pgm1	UTSW	4	99,824,259 (GRCm39)	nonsense	probably null
R6818:Pgm1	UTSW	4	99,820,763 (GRCm39)	missense	probably damaging	1.00
R6892:Pgm1	UTSW	4	99,786,905 (GRCm39)	missense	probably benign
R6984:Pgm1	UTSW	4	99,786,851 (GRCm39)	missense	probably benign	0.04
R7429:Pgm1	UTSW	4	99,813,192 (GRCm39)	start codon destroyed	probably null
R8017:Pgm1	UTSW	4	99,843,875 (GRCm39)	missense	probably benign	0.00
R8019:Pgm1	UTSW	4	99,843,875 (GRCm39)	missense	probably benign	0.00
R8143:Pgm1	UTSW	4	99,824,415 (GRCm39)	splice site	probably null
R8724:Pgm1	UTSW	4	99,786,964 (GRCm39)	missense	probably benign	0.00
R8893:Pgm1	UTSW	4	99,824,297 (GRCm39)	missense	probably damaging	0.99
R9062:Pgm1	UTSW	4	99,843,954 (GRCm39)	missense	probably damaging	1.00
R9260:Pgm1	UTSW	4	99,827,186 (GRCm39)	missense	probably damaging	1.00
R9513:Pgm1	UTSW	4	99,841,242 (GRCm39)	missense	probably damaging	1.00
R9632:Pgm1	UTSW	4	99,843,918 (GRCm39)	missense	probably damaging	1.00
R9710:Pgm1	UTSW	4	99,843,918 (GRCm39)	missense	probably damaging	1.00
RF018:Pgm1	UTSW	4	99,819,500 (GRCm39)	splice site	probably null
Z1176:Pgm1	UTSW	4	99,836,194 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCAGGAGACAATCACCATAGG -3'
(R):5'- TGATCCCTGGCGATCTTTGAG -3'

Sequencing Primer
(F):5'- GGGAATTAATGAGACTTCCTAACCG -3'
(R):5'- TATGCTCTGGATGAAATTCTCCAG -3'

Posted On

2019-10-07