Mutagenetix > Incidental Mutation

Incidental Mutation 'R4910:Pgm1'

379373

Institutional Source

Beutler Lab

Gene Symbol

Pgm1

Ensembl Gene

ENSMUSG00000025791

Gene Name

phosphoglucomutase 1

Synonyms

Pgm1a, Pgm2, 2610020G18Rik, Pgm-2

MMRRC Submission

042512-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.694) question?

Stock #

R4910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99786648-99844491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99820724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 207 (V207A)

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: V189A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061227
Gene: ENSMUSG00000025791
AA Change: V189A

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: V207A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099844
Gene: ENSMUSG00000025791
AA Change: V207A

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

Meta Mutation Damage Score

0.6465

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.6%
20x: 86.1%

Validation Efficiency

95% (144/151)

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,435 (GRCm39)		probably null	Het
Adam3	T	A	8: 25,184,321 (GRCm39)	I560L	probably benign	Het
Agxt	T	C	1: 93,063,436 (GRCm39)	F113L	probably benign	Het
Aknad1	T	A	3: 108,688,568 (GRCm39)		probably null	Het
Alpk2	T	A	18: 65,399,357 (GRCm39)	K2074*	probably null	Het
Apob	A	G	12: 8,057,848 (GRCm39)	Y2077C	probably damaging	Het
Arhgap17	A	T	7: 122,907,600 (GRCm39)	L254Q	probably damaging	Het
Arhgap26	T	A	18: 39,126,690 (GRCm39)		probably benign	Het
Arhgef5	A	G	6: 43,249,762 (GRCm39)	D171G	probably benign	Het
Arid1b	T	A	17: 5,392,478 (GRCm39)	S2003T	probably damaging	Het
Armc5	T	G	7: 127,839,900 (GRCm39)	L406R	possibly damaging	Het
Arsb	T	C	13: 93,908,485 (GRCm39)	V67A	probably benign	Het
Aspm	A	G	1: 139,419,281 (GRCm39)	Y2982C	probably damaging	Het
Bltp1	C	A	3: 37,052,348 (GRCm39)	T3016K	probably damaging	Het
Btbd7	A	G	12: 102,774,307 (GRCm39)	L487P	probably damaging	Het
Card11	C	G	5: 140,860,169 (GRCm39)	D1063H	probably damaging	Het
Ccdc186	G	A	19: 56,787,123 (GRCm39)	T615M	probably damaging	Het
Cd101	T	A	3: 100,901,205 (GRCm39)	T960S	probably benign	Het
Cdca7l	C	A	12: 117,837,520 (GRCm39)	S191*	probably null	Het
Cemip	A	T	7: 83,646,619 (GRCm39)	I143N	probably damaging	Het
Cep170	C	T	1: 176,609,829 (GRCm39)	E161K	possibly damaging	Het
Cfhr4	T	G	1: 139,702,301 (GRCm39)	D61A	probably damaging	Het
Chrm2	A	T	6: 36,501,168 (GRCm39)	T342S	probably benign	Het
Cib2	A	G	9: 54,457,163 (GRCm39)	F34L	probably benign	Het
Cnot1	A	T	8: 96,459,859 (GRCm39)	I1836N	probably benign	Het
Col4a3	C	A	1: 82,650,400 (GRCm39)	P552Q	unknown	Het
Cp	T	A	3: 20,043,388 (GRCm39)		probably benign	Het
Cul3	C	T	1: 80,267,806 (GRCm39)	V112I	probably benign	Het
Dcdc5	A	G	2: 106,195,895 (GRCm39)		noncoding transcript	Het
Disp1	A	T	1: 182,917,027 (GRCm39)	V133E	probably damaging	Het
Dlg4	A	G	11: 69,921,751 (GRCm39)	D30G	probably damaging	Het
Dop1a	C	T	9: 86,374,114 (GRCm39)	T191I	probably damaging	Het
Enam	T	G	5: 88,650,173 (GRCm39)	S561A	probably benign	Het
Fbxw8	G	T	5: 118,263,092 (GRCm39)		probably null	Het
Filip1	A	G	9: 79,725,214 (GRCm39)	V1135A	probably benign	Het
Galnt6	T	C	15: 100,614,059 (GRCm39)	T81A	probably benign	Het
Ghdc	T	C	11: 100,657,814 (GRCm39)	K472E	probably benign	Het
Gm10568	T	G	1: 3,751,164 (GRCm39)		noncoding transcript	Het
Gm4953	T	A	1: 158,995,929 (GRCm39)		noncoding transcript	Het
Gm6871	T	A	7: 41,223,016 (GRCm39)	H24L	probably benign	Het
Gpr155	G	A	2: 73,197,882 (GRCm39)	Q413*	probably null	Het
Grhl2	A	G	15: 37,291,920 (GRCm39)		probably null	Het
Ighv1-31	G	C	12: 114,793,128 (GRCm39)	S36*	probably null	Het
Ighv8-5	A	G	12: 115,031,462 (GRCm39)	S26P	probably damaging	Het
Igkv17-134	A	C	6: 67,697,910 (GRCm39)		probably benign	Het
Igkv5-48	A	C	6: 69,703,833 (GRCm39)	L24R	probably damaging	Het
Isg20l2	T	A	3: 87,846,570 (GRCm39)	V340E	probably damaging	Het
Lrrtm1	A	G	6: 77,221,884 (GRCm39)	Y447C	probably damaging	Het
Ltbp1	T	C	17: 75,634,287 (GRCm39)	S855P	probably damaging	Het
Mgat4e	A	T	1: 134,469,602 (GRCm39)	N147K	probably damaging	Het
Mlc1	A	G	15: 88,842,415 (GRCm39)	L315P	possibly damaging	Het
Mrgpra2a	A	G	7: 47,076,292 (GRCm39)	V322A	probably benign	Het
Mroh7	T	C	4: 106,567,152 (GRCm39)		probably null	Het
Mybpc1	T	A	10: 88,391,586 (GRCm39)	K304*	probably null	Het
Nlrp14	A	C	7: 106,785,790 (GRCm39)	D622A	possibly damaging	Het
Nlrp1b	T	A	11: 71,108,103 (GRCm39)	H466L	probably benign	Het
Nlrp4d	T	A	7: 10,112,336 (GRCm39)		noncoding transcript	Het
Nrxn3	A	G	12: 89,227,130 (GRCm39)	E628G	possibly damaging	Het
Nup133	T	C	8: 124,653,870 (GRCm39)	R530G	possibly damaging	Het
Nup98	A	G	7: 101,845,007 (GRCm39)	S21P	unknown	Het
Or2h2b-ps1	T	C	17: 37,480,934 (GRCm39)	I202V	probably benign	Het
Or2l13b	T	C	16: 19,348,768 (GRCm39)	T301A	probably benign	Het
Or4f14b	A	T	2: 111,775,423 (GRCm39)	I126K	possibly damaging	Het
Or52e8	G	A	7: 104,624,686 (GRCm39)	P169S	possibly damaging	Het
Or5k1	T	A	16: 58,617,805 (GRCm39)	T135S	probably benign	Het
Or6c66	T	C	10: 129,461,676 (GRCm39)	T85A	probably damaging	Het
Or8c11	T	A	9: 38,290,038 (GRCm39)	V287E	probably null	Het
Otog	A	T	7: 45,913,486 (GRCm39)	Y773F	probably damaging	Het
Otog	A	T	7: 45,947,958 (GRCm39)	I2320F	probably damaging	Het
Otogl	T	C	10: 107,715,378 (GRCm39)	S433G	probably benign	Het
Pcdhb17	A	T	18: 37,618,212 (GRCm39)	M1L	possibly damaging	Het
Pde7b	T	A	10: 20,600,480 (GRCm39)		probably benign	Het
Pkd1	T	A	17: 24,791,661 (GRCm39)	V1116E	probably damaging	Het
Pkd1l1	T	A	11: 8,879,360 (GRCm39)	Y497F	possibly damaging	Het
Pomgnt2	T	C	9: 121,812,013 (GRCm39)	N256S	probably benign	Het
Pot1a	A	T	6: 25,746,020 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,764,585 (GRCm39)	T732A	probably benign	Het
Prg4	T	A	1: 150,331,574 (GRCm39)		probably benign	Het
Ptpro	T	C	6: 137,345,336 (GRCm39)	V114A	probably damaging	Het
Pyurf	A	G	6: 57,668,933 (GRCm39)	S20P	unknown	Het
Rasgrf1	A	G	9: 89,858,805 (GRCm39)	T488A	probably benign	Het
Rassf8	A	T	6: 145,761,006 (GRCm39)	K111*	probably null	Het
Reps1	A	T	10: 17,983,436 (GRCm39)	E426D	probably damaging	Het
Robo2	T	C	16: 73,730,666 (GRCm39)	K982R	probably damaging	Het
Rps23	T	C	13: 91,071,871 (GRCm39)		probably null	Het
Scamp4	T	A	10: 80,445,505 (GRCm39)	V56E	probably damaging	Het
Serpina1c	C	T	12: 103,861,291 (GRCm39)	V408I	probably benign	Het
Sigirr	A	G	7: 140,673,701 (GRCm39)	W49R	probably damaging	Het
Slc17a6	A	T	7: 51,308,489 (GRCm39)	H271L	possibly damaging	Het
Slc7a5	G	T	8: 122,611,861 (GRCm39)	T389K	probably damaging	Het
Slf1	T	A	13: 77,191,999 (GRCm39)	H945L	probably benign	Het
Slit3	T	C	11: 35,523,549 (GRCm39)	S662P	probably damaging	Het
Snta1	C	A	2: 154,218,938 (GRCm39)	E466*	probably null	Het
Sowaha	A	G	11: 53,369,272 (GRCm39)	L488P	probably damaging	Het
Spata17	C	A	1: 186,926,208 (GRCm39)	V41F	probably damaging	Het
Spta1	T	A	1: 174,045,429 (GRCm39)		probably null	Het
Srrm2	T	A	17: 24,034,362 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,985,992 (GRCm39)	N388S	probably benign	Het
Stmn3	T	C	2: 180,950,630 (GRCm39)	K59E	probably damaging	Het
Sval1	A	G	6: 41,932,378 (GRCm39)	N76S	probably benign	Het
Svep1	T	C	4: 58,096,276 (GRCm39)	H1448R	possibly damaging	Het
Sycp2	A	T	2: 178,000,017 (GRCm39)	D986E	probably benign	Het
Sytl5	C	T	X: 9,781,841 (GRCm39)	P181L	possibly damaging	Het
Tbkbp1	G	A	11: 97,029,956 (GRCm39)	S400L	probably benign	Het
Tesc	G	T	5: 118,194,531 (GRCm39)		probably benign	Het
Tjp1	C	T	7: 64,993,475 (GRCm39)	G33R	probably damaging	Het
Tlr11	C	A	14: 50,600,346 (GRCm39)	F777L	probably benign	Het
Tmem156	A	G	5: 65,248,805 (GRCm39)		probably benign	Het
Top3a	A	G	11: 60,643,204 (GRCm39)		probably benign	Het
Tpcn1	A	G	5: 120,694,584 (GRCm39)	W162R	probably damaging	Het
Tpd52l2	A	T	2: 181,157,005 (GRCm39)		probably benign	Het
Trim80	G	A	11: 115,337,281 (GRCm39)	G381D	probably damaging	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r117	TC	T	17: 23,698,487 (GRCm39)		probably null	Het
Vmn2r56	T	A	7: 12,449,462 (GRCm39)	I259F	possibly damaging	Het
Vmn2r59	T	C	7: 41,693,077 (GRCm39)	T508A	probably benign	Het
Wdr73	A	G	7: 80,541,456 (GRCm39)	V362A	probably damaging	Het
Zdhhc21	G	T	4: 82,738,568 (GRCm39)	T207K	possibly damaging	Het
Zfp120	T	A	2: 149,959,872 (GRCm39)	Q150L	probably damaging	Het
Zfp212	C	A	6: 47,908,433 (GRCm39)	Q471K	possibly damaging	Het
Zfp804b	C	T	5: 6,820,540 (GRCm39)	G841D	possibly damaging	Het
Znfx1	A	T	2: 166,878,724 (GRCm39)	M1884K	probably damaging	Het
Znfx1	G	T	2: 166,879,402 (GRCm39)	A1658D	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
R4748:Pgm1	UTSW	4	99,839,176 (GRCm39)	missense	probably benign	0.24
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'- TAGCTGTGCAAGTCCCTGAC -3'
(R):5'- CTTGCCTACACTGAGGTCTG -3'

Sequencing Primer
(F):5'- GAGCTTCCTCGTCTACAGAAC -3'
(R):5'- GCCTACACTGAGGTCTGTAAACTG -3'

Posted On

2016-04-15