Mutagenetix > Incidental Mutation

Incidental Mutation 'R4748:Pgm1'

357274

Institutional Source

Beutler Lab

Gene Symbol

Pgm1

Ensembl Gene

ENSMUSG00000025791

Gene Name

phosphoglucomutase 1

Synonyms

Pgm1a, Pgm2, 2610020G18Rik, Pgm-2

MMRRC Submission

042030-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

R4748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99786648-99844491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99839176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 459 (F459Y)

Ref Sequence

ENSEMBL: ENSMUSP00000061227 (fasta)

Gene Model

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

AlphaFold

Q9D0F9

Predicted Effect

probably benign
Transcript: ENSMUST00000058351
AA Change: F459Y

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061227
Gene: ENSMUSG00000025791
AA Change: F459Y

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 benign
Transcript: ENSMUST00000102783
AA Change: F477Y

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099844
Gene: ENSMUSG00000025791
AA Change: F477Y

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,784,394 (GRCm39)	E54D	possibly damaging	Het
Abcb6	C	A	1: 75,154,002 (GRCm39)	G367W	probably damaging	Het
Asprv1	A	G	6: 86,605,405 (GRCm39)	M84V	probably damaging	Het
Aspscr1	T	C	11: 120,592,333 (GRCm39)	V291A	probably damaging	Het
B4galnt4	T	C	7: 140,651,633 (GRCm39)	F980L	probably damaging	Het
Bpi	G	A	2: 158,113,941 (GRCm39)	V280I	possibly damaging	Het
Bptf	T	C	11: 106,986,706 (GRCm39)	D581G	probably damaging	Het
Cap2	T	A	13: 46,793,302 (GRCm39)	Y223N	possibly damaging	Het
Ccdc141	A	C	2: 76,888,324 (GRCm39)	I480M	possibly damaging	Het
Ccn4	C	A	15: 66,778,489 (GRCm39)	Y103*	probably null	Het
Ccnh	T	A	13: 85,337,758 (GRCm39)	V35E	probably benign	Het
Cd6	G	T	19: 10,771,589 (GRCm39)	S433*	probably null	Het
Ceacam10	A	C	7: 24,480,477 (GRCm39)	I83L	probably benign	Het
Chek2	T	C	5: 111,003,705 (GRCm39)		probably null	Het
Chia1	A	T	3: 106,029,765 (GRCm39)	D73V	probably damaging	Het
Commd2	G	A	3: 57,554,215 (GRCm39)	T162I	probably benign	Het
Creb3l3	C	T	10: 80,921,881 (GRCm39)	A316T	probably benign	Het
Cul4a	A	G	8: 13,173,526 (GRCm39)	K1R	probably benign	Het
Cyp2c23	T	C	19: 44,005,176 (GRCm39)		probably null	Het
D630045J12Rik	T	C	6: 38,173,776 (GRCm39)	T131A	possibly damaging	Het
Dctn4	A	C	18: 60,683,308 (GRCm39)	K295N	probably damaging	Het
Dnah1	A	G	14: 31,041,902 (GRCm39)	V23A	probably benign	Het
Dync1i1	A	G	6: 5,767,048 (GRCm39)	K91E	possibly damaging	Het
Dzip1l	A	G	9: 99,524,704 (GRCm39)	D275G	probably damaging	Het
Enam	C	A	5: 88,649,402 (GRCm39)	P304T	probably damaging	Het
Enpep	A	G	3: 129,125,812 (GRCm39)	Y107H	probably damaging	Het
Exd2	T	C	12: 80,527,350 (GRCm39)	L27P	probably damaging	Het
Fam135b	T	A	15: 71,335,904 (GRCm39)	D430V	probably benign	Het
Fam222b	C	T	11: 78,045,429 (GRCm39)	T202I	possibly damaging	Het
Fmod	T	A	1: 133,968,912 (GRCm39)	N317K	probably damaging	Het
Frem2	A	G	3: 53,448,514 (GRCm39)	F2301L	probably damaging	Het
Frem3	T	C	8: 81,338,088 (GRCm39)	F127S	probably damaging	Het
Gbp7	A	G	3: 142,243,848 (GRCm39)	S132G	probably benign	Het
Gm4787	A	G	12: 81,424,830 (GRCm39)	C443R	probably damaging	Het
Grik2	T	C	10: 49,411,437 (GRCm39)	M5V	possibly damaging	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt90	G	A	15: 101,463,768 (GRCm39)	L429F	probably damaging	Het
Lrr1	C	A	12: 69,221,236 (GRCm39)	T126K	probably benign	Het
Mgat4e	C	A	1: 134,469,766 (GRCm39)	D93Y	probably damaging	Het
Mllt3	A	T	4: 87,759,018 (GRCm39)	S343R	possibly damaging	Het
Mms19	T	A	19: 41,932,997 (GRCm39)	S1031C	probably damaging	Het
Mtrf1	C	T	14: 79,649,090 (GRCm39)	H237Y	probably damaging	Het
Nckap1l	T	A	15: 103,381,483 (GRCm39)	L408Q	probably damaging	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Or11g1	T	G	14: 50,651,333 (GRCm39)	L111V	possibly damaging	Het
Or13c3	A	G	4: 52,856,076 (GRCm39)	S146P	possibly damaging	Het
Or4a39	C	T	2: 89,236,599 (GRCm39)	V275I	probably benign	Het
Or5d36	T	A	2: 87,900,956 (GRCm39)	I257L	probably benign	Het
Otud7a	T	C	7: 63,385,663 (GRCm39)	S376P	possibly damaging	Het
Pabpc2	A	T	18: 39,907,322 (GRCm39)	K196*	probably null	Het
Paqr8	T	A	1: 21,005,637 (GRCm39)	C264S	probably benign	Het
Phip	C	A	9: 82,790,922 (GRCm39)	V675L	probably benign	Het
Pnma1	T	G	12: 84,194,497 (GRCm39)	T69P	probably benign	Het
Ppp1r14bl	T	C	1: 23,140,951 (GRCm39)	E121G	probably damaging	Het
Ptpn12	A	T	5: 21,210,383 (GRCm39)	C242*	probably null	Het
Rabep1	T	A	11: 70,799,294 (GRCm39)	V306E	probably benign	Het
Ros1	C	T	10: 51,992,093 (GRCm39)	D1377N	probably benign	Het
Ryr3	T	C	2: 112,794,750 (GRCm39)	T121A	possibly damaging	Het
Scaf11	G	A	15: 96,318,302 (GRCm39)	Q421*	probably null	Het
Shcbp1	G	A	8: 4,794,512 (GRCm39)	T427M	probably damaging	Het
Shprh	G	A	10: 11,046,220 (GRCm39)	R979H	probably damaging	Het
Slc22a27	C	T	19: 7,903,241 (GRCm39)	C163Y	probably benign	Het
Slc27a1	A	G	8: 72,033,319 (GRCm39)	D287G	probably damaging	Het
Slc27a1	C	T	8: 72,033,453 (GRCm39)	T310M	possibly damaging	Het
Slc29a3	A	G	10: 60,552,105 (GRCm39)	V313A	probably benign	Het
Slc35f2	A	T	9: 53,679,069 (GRCm39)	M1L	probably benign	Het
Sltm	G	C	9: 70,488,647 (GRCm39)	R599T	probably damaging	Het
Spic	T	A	10: 88,511,752 (GRCm39)	Q168L	probably damaging	Het
Spink6	G	A	18: 44,215,428 (GRCm39)		probably null	Het
Stac2	T	C	11: 97,932,198 (GRCm39)	E235G	possibly damaging	Het
Szt2	G	A	4: 118,246,388 (GRCm39)	Q957*	probably null	Het
Them7	A	T	2: 105,208,991 (GRCm39)	T104S	possibly damaging	Het
Tmed4	T	A	11: 6,221,716 (GRCm39)	I207F	possibly damaging	Het
Tmem248	A	G	5: 130,265,731 (GRCm39)	E178G	probably benign	Het
Tomm40l	G	A	1: 171,047,131 (GRCm39)	R296*	probably null	Het
Trim80	C	A	11: 115,338,964 (GRCm39)	T598N	possibly damaging	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Vil1	C	T	1: 74,460,425 (GRCm39)	A194V	probably damaging	Het
Vmn2r61	A	T	7: 41,916,565 (GRCm39)	M393L	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Vps33b	G	T	7: 79,939,796 (GRCm39)	A516S	probably damaging	Het
Zc3h6	G	A	2: 128,844,160 (GRCm39)	G235R	probably damaging	Het
Zfp612	T	A	8: 110,815,304 (GRCm39)	D170E	probably benign	Het
Zfp746	A	G	6: 48,041,490 (GRCm39)	I412T	probably benign	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
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
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'- GCTTTTGGCAGCCTTCTGAAG -3'
(R):5'- TTTGGCAGAAACCCAGCTGG -3'

Sequencing Primer
(F):5'- CTTTTGGGAGGGCCAAGGATG -3'
(R):5'- GAAGCACAACCAAGGGGCC -3'

Posted On

2015-11-11