Mutagenetix > Incidental Mutations

Incidental Mutation 'R4301:Pgm1'

322408

Institutional Source

Beutler Lab

Gene Symbol

Pgm1

Ensembl Gene

ENSMUSG00000029171

Gene Name

phosphoglucomutase 1

Synonyms

Pgm-1, 3230402E02Rik

MMRRC Submission

041088-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64092950-64128351 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 64103797 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 51 (W51*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087324]

AlphaFold

Q7TSV4

Predicted Effect

probably null
Transcript: ENSMUST00000087324
AA Change: W211*

SMART Domains

Protein: ENSMUSP00000084582
Gene: ENSMUSG00000029171
AA Change: W211*

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:PGM_PMM_I	62	211	7.8e-37	PFAM
Pfam:PGM_PMM_II	235	344	1.9e-25	PFAM
Pfam:PGM_PMM_III	351	480	4.6e-15	PFAM
Pfam:PGM_PMM_IV	523	603	5.5e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177427

Predicted Effect

probably null
Transcript: ENSMUST00000199093
AA Change: W51*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Four electrophoretic variants are known, each with a 5-band pattern: the a allele in C57BL/6, BALB/c and AKR; b allele in DBA/2 and SJL; c allele in C3H/He; and d allele in 129/Re. Heterozygotes show a mixture of bands. Mice homozygous for a spontaneous null allele or ENU induced alleles are viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,556,903	V95D	probably damaging	Het
Adamtsl2	A	G	2: 27,087,283	D252G	probably null	Het
Adgra3	T	C	5: 49,961,078	R1043G	possibly damaging	Het
Atxn7l1	A	G	12: 33,367,238	D562G	probably damaging	Het
Ccdc70	T	C	8: 21,973,212	V6A	possibly damaging	Het
Cdc25a	T	C	9: 109,889,742	V337A	probably benign	Het
Chil4	G	A	3: 106,203,727	P284S	possibly damaging	Het
Crb1	A	G	1: 139,248,830	S472P	probably benign	Het
Fam193b	G	A	13: 55,542,604	R740*	probably null	Het
Fer	G	T	17: 64,078,910	L292F	probably damaging	Het
Gmppa	G	A	1: 75,442,496	R349H	possibly damaging	Het
Hspa1a	T	C	17: 34,970,506	I474V	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Lrrc30	A	G	17: 67,632,568	S6P	probably damaging	Het
Lzts3	A	G	2: 130,636,438	S133P	probably damaging	Het
Mkl2	T	C	16: 13,398,305	Y294H	probably damaging	Het
Mtmr12	T	A	15: 12,236,020	F122I	possibly damaging	Het
Mypn	A	G	10: 63,118,484	Y124H	probably damaging	Het
Nfat5	T	C	8: 107,355,695		probably benign	Het
Npr2	T	C	4: 43,641,332		probably null	Het
Olfr1441	T	C	19: 12,422,717	L136P	probably damaging	Het
Phip	G	A	9: 82,959,713	R48*	probably null	Het
Piezo2	T	C	18: 63,084,840	T1075A	probably damaging	Het
Ppat	G	T	5: 76,928,501		probably benign	Het
Ppp2r2b	T	A	18: 42,898,746	E23D	probably null	Het
Prickle1	T	C	15: 93,508,636	I169V	possibly damaging	Het
Rab37	T	A	11: 115,158,564	D95E	possibly damaging	Het
Sash1	A	G	10: 8,751,470	V50A	probably benign	Het
Siae	C	A	9: 37,633,713	Q335K	possibly damaging	Het
Snx14	A	T	9: 88,410,623	I217K	probably damaging	Het
Son	A	G	16: 91,658,411	T1349A	possibly damaging	Het
Sptb	A	G	12: 76,612,697	L1143S	probably damaging	Het
Trim80	T	C	11: 115,445,113		probably null	Het
Trpm3	T	C	19: 22,987,292	S1374P	probably benign	Het
Vldlr	C	A	19: 27,238,402	D266E	possibly damaging	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Zbtb10	A	T	3: 9,265,160	Q526L	probably damaging	Het
Zfr2	T	C	10: 81,242,184		probably benign	Het
Zswim8	G	A	14: 20,713,909	R449H	possibly damaging	Het
Zzef1	T	C	11: 72,889,035	V1878A	probably damaging	Het

Other mutations in Pgm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Pgm1	APN	5	64108269	splice site	probably benign
IGL01068:Pgm1	APN	5	64107796	missense	probably damaging	0.99
IGL01112:Pgm1	APN	5	64102882	missense	possibly damaging	0.86
IGL01634:Pgm1	APN	5	64100974	missense	probably benign	0.01
IGL02513:Pgm1	APN	5	64102946	unclassified	probably benign
R0255:Pgm1	UTSW	5	64112043	missense	possibly damaging	0.93
R0268:Pgm1	UTSW	5	64105808	missense	probably damaging	1.00
R0511:Pgm1	UTSW	5	64110555	missense	probably damaging	1.00
R0722:Pgm1	UTSW	5	64107679	nonsense	probably null
R0881:Pgm1	UTSW	5	64093008	missense	unknown
R0924:Pgm1	UTSW	5	64112147	missense	possibly damaging	0.90
R0930:Pgm1	UTSW	5	64112147	missense	possibly damaging	0.90
R1773:Pgm1	UTSW	5	64107851	critical splice donor site	probably null
R1777:Pgm1	UTSW	5	64127782	missense	probably benign
R2137:Pgm1	UTSW	5	64116366	missense	probably benign
R2244:Pgm1	UTSW	5	64106702	missense	probably benign	0.00
R3946:Pgm1	UTSW	5	64112061	missense	probably benign
R4601:Pgm1	UTSW	5	64107727	missense	probably benign	0.02
R4631:Pgm1	UTSW	5	64105947	splice site	probably null
R4795:Pgm1	UTSW	5	64103874	missense	probably damaging	1.00
R4871:Pgm1	UTSW	5	64103894	missense	probably benign
R4893:Pgm1	UTSW	5	64105940	missense	probably benign
R4907:Pgm1	UTSW	5	64103878	missense	probably benign	0.00
R4915:Pgm1	UTSW	5	64100948	missense	probably damaging	1.00
R5092:Pgm1	UTSW	5	64107749	missense	possibly damaging	0.49
R5197:Pgm1	UTSW	5	64105832	missense	possibly damaging	0.87
R5621:Pgm1	UTSW	5	64112038	nonsense	probably null
R6311:Pgm1	UTSW	5	64116415	missense	probably benign	0.05
R6651:Pgm1	UTSW	5	64112094	missense	probably benign	0.07
R6731:Pgm1	UTSW	5	64100975	missense	probably benign	0.27
R6885:Pgm1	UTSW	5	64103878	missense	probably benign	0.00
R6919:Pgm1	UTSW	5	64097025	missense	probably benign	0.11
R7211:Pgm1	UTSW	5	64105850	missense	probably damaging	0.99
R7631:Pgm1	UTSW	5	64108179	missense	possibly damaging	0.90
R7982:Pgm1	UTSW	5	64100959	missense	probably damaging	1.00
R8070:Pgm1	UTSW	5	64112082	missense	probably benign	0.00
R8161:Pgm1	UTSW	5	64112160	missense	probably damaging	1.00
R8181:Pgm1	UTSW	5	64112124	missense	possibly damaging	0.83
R9110:Pgm1	UTSW	5	64103816	missense	probably benign	0.01
R9333:Pgm1	UTSW	5	64105757	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCCTCTCACAGTGGAACC -3'
(R):5'- CAGACATTGATAGAATTCGGCTG -3'

Sequencing Primer
(F):5'- TCTCACAGTGGAACCCCAGC -3'
(R):5'- TCGGCTGAATCACATTAGCTG -3'

Posted On

2015-06-20