Mutagenetix > Incidental Mutation

Incidental Mutation 'R8143:Pgm1'

647917

Institutional Source

Beutler Lab

Gene Symbol

Pgm1

Ensembl Gene

ENSMUSG00000025791

Gene Name

phosphoglucomutase 1

Synonyms

Pgm1a, Pgm2, 2610020G18Rik, Pgm-2

MMRRC Submission

067571-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

R8143 (G1)

Quality Score

167.009

Status

Validated

Chromosome

Chromosomal Location

99786648-99844491 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 99824415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099844 (fasta)

Gene Model

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

AlphaFold

Q9D0F9

Predicted Effect

probably null
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

SMART Domains

Protein: ENSMUSP00000099844
Gene: ENSMUSG00000025791

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: 99.7%
3x: 99.4%
10x: 97.3%
20x: 85.9%

Validation Efficiency

100% (65/65)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,265,884 (GRCm39)	C262F	probably damaging	Het
Acss1	T	C	2: 150,509,801 (GRCm39)		probably null	Het
Adamtsl1	T	C	4: 86,260,492 (GRCm39)	V909A	possibly damaging	Het
Adprh	G	A	16: 38,270,694 (GRCm39)	T37M	probably benign	Het
Ak9	T	A	10: 41,213,588 (GRCm39)	Y264*	probably null	Het
Aox3	G	T	1: 58,198,074 (GRCm39)	A629S	probably benign	Het
Apcs	G	A	1: 172,721,900 (GRCm39)	P149S	probably damaging	Het
Arnt	T	A	3: 95,377,294 (GRCm39)		probably null	Het
Asb13	G	A	13: 3,692,065 (GRCm39)	G15D	probably damaging	Het
Bltp1	T	G	3: 37,000,657 (GRCm39)		probably null	Het
Cacnb1	T	G	11: 97,894,146 (GRCm39)	T459P	probably benign	Het
Chrnb2	T	C	3: 89,654,630 (GRCm39)	T718A	unknown	Het
Cttn	T	A	7: 144,014,999 (GRCm39)	K70*	probably null	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cyp39a1	T	C	17: 44,036,517 (GRCm39)	V349A	probably benign	Het
Ebf2	C	A	14: 67,649,386 (GRCm39)	Y430*	probably null	Het
Eef2	T	C	10: 81,017,182 (GRCm39)	Y730H	probably damaging	Het
Eif2ak2	G	A	17: 79,165,961 (GRCm39)	T412I	probably benign	Het
Flnc	G	C	6: 29,441,484 (GRCm39)	R422P	probably benign	Het
Fryl	G	A	5: 73,207,682 (GRCm39)	A2496V	probably benign	Het
Galnt6	A	G	15: 100,614,088 (GRCm39)	L71P	probably damaging	Het
Gm7579	C	T	7: 141,766,163 (GRCm39)	Q190*	probably null	Het
H2-T3	T	A	17: 36,498,384 (GRCm39)	R220S	probably benign	Het
Hmcn1	A	G	1: 150,734,957 (GRCm39)	V185A	probably benign	Het
Ifi208	T	A	1: 173,510,242 (GRCm39)	D132E	possibly damaging	Het
Itgb4	G	A	11: 115,884,255 (GRCm39)	V981I	probably damaging	Het
Itsn2	A	G	12: 4,683,003 (GRCm39)	T310A	unknown	Het
Kat5	A	G	19: 5,657,577 (GRCm39)		probably null	Het
Kif22	A	T	7: 126,632,397 (GRCm39)	D304E	probably damaging	Het
Mapre3	A	T	5: 31,020,719 (GRCm39)	N147Y	possibly damaging	Het
Morc2a	T	C	11: 3,628,537 (GRCm39)	V330A	probably benign	Het
Mylk	G	A	16: 34,734,525 (GRCm39)	V709M	possibly damaging	Het
Myo3a	T	G	2: 22,287,476 (GRCm39)		probably null	Het
N4bp2l2	A	T	5: 150,585,670 (GRCm39)	D103E	probably benign	Het
Nckap1	T	C	2: 80,336,530 (GRCm39)	K1062R	possibly damaging	Het
Nol9	T	C	4: 152,125,559 (GRCm39)	V170A	possibly damaging	Het
Numa1	A	G	7: 101,648,891 (GRCm39)	Q874R	possibly damaging	Het
Olig3	T	G	10: 19,232,732 (GRCm39)	V119G	probably damaging	Het
Or7g34	A	G	9: 19,478,587 (GRCm39)	V31A	probably benign	Het
Osbpl9	A	G	4: 108,922,906 (GRCm39)	S485P	probably benign	Het
Otogl	A	G	10: 107,642,527 (GRCm39)	F1301S	probably damaging	Het
Pank3	A	G	11: 35,667,036 (GRCm39)	Y51C	probably damaging	Het
Pex5l	T	C	3: 33,136,658 (GRCm39)		probably benign	Het
Psmd9	T	G	5: 123,366,479 (GRCm39)	I37S	probably damaging	Het
Qtrt2	A	G	16: 43,692,117 (GRCm39)	S135P	probably damaging	Het
Rexo5	T	A	7: 119,433,484 (GRCm39)		probably null	Het
Rsrp1	T	A	4: 134,654,319 (GRCm39)	D286E	probably benign	Het
Scara3	C	T	14: 66,169,269 (GRCm39)	C116Y	probably damaging	Het
Serpina3b	A	T	12: 104,096,793 (GRCm39)	T25S	probably benign	Het
Sh3pxd2a	G	A	19: 47,257,138 (GRCm39)	P555S	probably damaging	Het
Slc1a2	T	A	2: 102,568,230 (GRCm39)	L89Q	probably damaging	Het
Tgm6	T	A	2: 129,983,763 (GRCm39)	N307K	probably damaging	Het
Tmem86b	G	T	7: 4,631,484 (GRCm39)	D189E	probably damaging	Het
Trim65	G	A	11: 116,017,287 (GRCm39)	R392C	probably benign	Het
Trpc7	T	C	13: 56,930,362 (GRCm39)	T769A	probably benign	Het
Trrap	T	A	5: 144,772,707 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,693,677 (GRCm39)	E397G	possibly damaging	Het
Vcl	A	T	14: 21,037,112 (GRCm39)	M237L	possibly damaging	Het
Vmn1r36	G	A	6: 66,693,036 (GRCm39)	Q280*	probably null	Het
Vmn2r23	A	T	6: 123,718,312 (GRCm39)	D555V	probably damaging	Het
Wnk4	A	G	11: 101,153,625 (GRCm39)	N229S	probably damaging	Het
Zfp784	A	C	7: 5,038,910 (GRCm39)	V216G	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
R7430: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
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'- TGCTGAAATTTGGAAAACTCCACAG -3'
(R):5'- TGATCAGATAGGCTGGCAGAC -3'

Sequencing Primer
(F):5'- AAGTTCTTACATTGAATCTGCTTCC -3'
(R):5'- CACAGTGTGGCGAGTACCAG -3'

Posted On

2020-09-10