Mutagenetix > Incidental Mutation

Incidental Mutation 'R9632:Pgm1'

725561

Institutional Source

Beutler Lab

Gene Symbol

Pgm1

Ensembl Gene

ENSMUSG00000025791

Gene Name

phosphoglucomutase 1

Synonyms

Pgm1a, Pgm2, 2610020G18Rik, Pgm-2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

R9632 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99786648-99844491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99843918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 567 (L567P)

Ref Sequence

ENSEMBL: ENSMUSP00000099844 (fasta)

Gene Model

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

AlphaFold

Q9D0F9

Predicted Effect

probably damaging
Transcript: ENSMUST00000058351
AA Change: L549P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061227
Gene: ENSMUSG00000025791
AA Change: L549P

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 damaging
Transcript: ENSMUST00000102783
AA Change: L567P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099844
Gene: ENSMUSG00000025791
AA Change: L567P

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: 99.7%
20x: 99.1%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,389,072 (GRCm39)	I570T	probably damaging	Het
Adamtsl4	G	A	3: 95,589,090 (GRCm39)	T447I	probably damaging	Het
Ahcyl1	T	A	3: 107,578,494 (GRCm39)	I248F	possibly damaging	Het
Arhgef2	T	C	3: 88,528,576 (GRCm39)	I4T	probably benign	Het
Bin2	T	C	15: 100,549,915 (GRCm39)	D176G	possibly damaging	Het
Bptf	T	A	11: 106,952,545 (GRCm39)	T2166S	probably damaging	Het
Cachd1	T	A	4: 100,832,092 (GRCm39)	N751K	probably benign	Het
Castor1	A	G	11: 4,169,015 (GRCm39)	K61E	probably benign	Het
CN725425	A	T	15: 91,126,851 (GRCm39)	T214S	possibly damaging	Het
Crtam	A	T	9: 40,895,671 (GRCm39)	D218E	probably benign	Het
Ctsj	C	T	13: 61,151,828 (GRCm39)	M76I	probably benign	Het
Cuedc1	C	A	11: 88,060,955 (GRCm39)	S99R	possibly damaging	Het
Cyp4a14	T	A	4: 115,349,347 (GRCm39)	I238F	probably benign	Het
Dnajb11	A	T	16: 22,681,344 (GRCm39)	I41F	probably damaging	Het
Drd3	A	G	16: 43,643,135 (GRCm39)	N425S	probably damaging	Het
Eci1	G	C	17: 24,645,859 (GRCm39)	G25R	probably damaging	Het
Etl4	A	T	2: 20,666,749 (GRCm39)	N52I	probably benign	Het
Fbxo34	T	C	14: 47,768,724 (GRCm39)	Y746H	probably damaging	Het
Fcgbpl1	A	G	7: 27,841,726 (GRCm39)	I554V	probably benign	Het
Fndc1	T	C	17: 7,991,622 (GRCm39)	I691M	unknown	Het
Fut8	A	G	12: 77,440,507 (GRCm39)	T165A	probably benign	Het
Galr1	A	T	18: 82,424,103 (GRCm39)	L58Q	probably damaging	Het
Glt28d2	T	C	3: 85,779,059 (GRCm39)	D138G	probably benign	Het
Gm11595	A	T	11: 99,663,097 (GRCm39)	C194*	probably null	Het
Gm14403	T	A	2: 177,201,421 (GRCm39)	N213K	probably benign	Het
Gmpr	T	C	13: 45,699,519 (GRCm39)	V343A	probably benign	Het
Hacd1	T	C	2: 14,040,678 (GRCm39)	N152D	possibly damaging	Het
Hcn1	A	G	13: 118,010,522 (GRCm39)	S367G	probably benign	Het
Impg1	A	G	9: 80,287,276 (GRCm39)	V390A	probably benign	Het
Itpr1	T	C	6: 108,382,481 (GRCm39)	C1458R	possibly damaging	Het
Kif16b	A	T	2: 142,553,960 (GRCm39)	V946E	probably benign	Het
Krt71	T	C	15: 101,644,988 (GRCm39)	E441G	probably damaging	Het
Lhcgr	A	G	17: 89,049,532 (GRCm39)	F665L	probably benign	Het
Lrrc37	T	A	11: 103,433,252 (GRCm39)	S3306C	unknown	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map3k8	A	T	18: 4,339,546 (GRCm39)	V275D	probably damaging	Het
Marchf8	C	T	6: 116,378,405 (GRCm39)	T113I	possibly damaging	Het
Mmp15	A	G	8: 96,098,731 (GRCm39)		probably null	Het
Mpst	A	G	15: 78,294,469 (GRCm39)	D67G	probably damaging	Het
Nanog	T	C	6: 122,684,799 (GRCm39)	S20P	probably benign	Het
Ndufc2	T	C	7: 97,056,102 (GRCm39)	S67P	probably damaging	Het
Nrg1	T	C	8: 32,407,621 (GRCm39)	K204R	possibly damaging	Het
Nsf	T	A	11: 103,714,594 (GRCm39)	K728N	probably damaging	Het
Nutm2	C	A	13: 50,628,901 (GRCm39)	P655H	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or10g9	A	T	9: 39,912,172 (GRCm39)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,974,199 (GRCm39)	C140Y	probably benign	Het
Or4a15	T	C	2: 89,193,065 (GRCm39)	Y236C	probably damaging	Het
Or4c102	A	T	2: 88,423,057 (GRCm39)	Q303L	probably benign	Het
Or4c120	T	C	2: 89,001,752 (GRCm39)		probably benign	Het
Or56a5	T	A	7: 104,793,165 (GRCm39)	T112S	probably benign	Het
Otog	A	T	7: 45,915,143 (GRCm39)	Q836L	probably benign	Het
Pcdhb11	T	C	18: 37,556,019 (GRCm39)	F450L	probably damaging	Het
Pelp1	T	C	11: 70,284,835 (GRCm39)	E1011G	unknown	Het
Pfkfb3	T	G	2: 11,486,109 (GRCm39)	R459S	probably benign	Het
Phf2	T	A	13: 48,971,292 (GRCm39)	D460V	unknown	Het
Polr1f	G	A	12: 33,479,723 (GRCm39)	G24R	possibly damaging	Het
Pou5f1	G	A	17: 35,819,731 (GRCm39)		probably benign	Het
Pou6f2	T	C	13: 18,299,848 (GRCm39)	R604G		Het
Pramel5	T	A	4: 143,999,545 (GRCm39)	I181F	probably benign	Het
Ptprc	T	C	1: 138,008,627 (GRCm39)	R687G	probably damaging	Het
Ptprz1	T	A	6: 23,007,292 (GRCm39)	H1618Q	probably damaging	Het
Qars1	G	A	9: 108,391,582 (GRCm39)	D618N	probably damaging	Het
Ripply3	A	G	16: 94,134,139 (GRCm39)	T68A	probably benign	Het
Rrad	A	G	8: 105,356,320 (GRCm39)	M160T	probably benign	Het
Rtn1	A	G	12: 72,350,961 (GRCm39)	V416A	probably damaging	Het
Rttn	A	G	18: 89,035,334 (GRCm39)	N736S	possibly damaging	Het
Sash1	A	T	10: 8,615,969 (GRCm39)	V631E	probably damaging	Het
Selenof	T	A	3: 144,283,370 (GRCm39)	F33L	probably benign	Het
Serpinb6b	A	T	13: 33,155,532 (GRCm39)	N82Y	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Shpk	G	T	11: 73,104,238 (GRCm39)	R129L	probably damaging	Het
Slc2a10	A	C	2: 165,358,176 (GRCm39)	I434L	probably damaging	Het
Slc30a6	G	T	17: 74,730,059 (GRCm39)	M316I	probably benign	Het
Slx4	A	T	16: 3,803,969 (GRCm39)	H948Q	probably benign	Het
Sncaip	A	G	18: 53,039,726 (GRCm39)	E640G	probably damaging	Het
Sox7	G	A	14: 64,185,509 (GRCm39)	A182T	probably benign	Het
Spata31e5	T	A	1: 28,817,120 (GRCm39)	Y304F	probably benign	Het
Srcin1	A	G	11: 97,442,648 (GRCm39)	I60T	probably benign	Het
Srm	C	T	4: 148,676,039 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,689 (GRCm39)	M447K	possibly damaging	Het
Stam	A	T	2: 14,122,204 (GRCm39)	H101L	probably damaging	Het
Suz12	C	T	11: 79,915,748 (GRCm39)	T407M	possibly damaging	Het
Tbc1d10b	A	G	7: 126,807,036 (GRCm39)	V167A	probably benign	Het
Trav16	T	A	14: 53,980,910 (GRCm39)	V33E	possibly damaging	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ttc17	A	G	2: 94,209,097 (GRCm39)	V119A	probably damaging	Het
Ttc19	A	G	11: 62,203,997 (GRCm39)	I319M	probably benign	Het
Ttc6	A	G	12: 57,664,299 (GRCm39)	M351V	probably benign	Het
Ttn	G	A	2: 76,714,897 (GRCm39)	R8026*	probably null	Het
Ttn	A	T	2: 76,750,210 (GRCm39)	V3613E	probably benign	Het
Txndc16	T	C	14: 45,400,467 (GRCm39)	I345V	probably benign	Het
Ube3b	T	C	5: 114,553,370 (GRCm39)	I914T	probably benign	Het
Vmn1r73	T	C	7: 11,490,407 (GRCm39)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,363,753 (GRCm39)	M380K	possibly damaging	Het
Zfp820	T	C	17: 22,038,107 (GRCm39)	Y407C	probably damaging	Het
Zic5	C	T	14: 122,701,787 (GRCm39)	A315T	unknown	Het
Zmiz1	C	A	14: 25,663,411 (GRCm39)	D1053E	unknown	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
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
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'- GAGTTCATTCACTGGGGTAAGG -3'
(R):5'- GCCTCACAAATGGCTGTTTATC -3'

Sequencing Primer
(F):5'- TGCTGGAGCCAGGCTTG -3'
(R):5'- CACAAATGGCTGTTTATCAAAGTGGG -3'

Posted On

2022-09-12