Mutagenetix > Incidental Mutation

Incidental Mutation 'P0047:Pgm5'

7642

Institutional Source

Beutler Lab

Gene Symbol

Pgm5

Ensembl Gene

ENSMUSG00000041731

Gene Name

phosphoglucomutase 5

Synonyms

9530034F03Rik, aciculin

MMRRC Submission

038294-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

P0047 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24660380-24839219 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24793785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 293 (D293V)

Ref Sequence

ENSEMBL: ENSMUSP00000036025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047666]

AlphaFold

Q8BZF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000047666
AA Change: D293V

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

SMART Domains

Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: D293V

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	19	163	3.9e-31	PFAM
Pfam:PGM_PMM_II	198	306	1.8e-15	PFAM
Pfam:PGM_PMM_III	311	425	6.9e-31	PFAM
SCOP:d3pmga4	427	567	5e-74	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150339

Meta Mutation Damage Score

0.9558

Coding Region Coverage

1x: 81.2%
3x: 73.1%
10x: 47.2%
20x: 24.0%

Validation Efficiency

83% (73/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap20	T	C	9: 51,760,536 (GRCm39)	S760P	probably damaging	Het
Cenatac	T	A	9: 44,324,506 (GRCm39)		probably benign	Het
Defa22	C	A	8: 21,653,102 (GRCm39)	C71*	probably null	Het
Fanci	A	G	7: 79,093,792 (GRCm39)	D1048G	probably damaging	Het
Kmt5b	T	A	19: 3,843,223 (GRCm39)		probably benign	Het
Nol8	T	A	13: 49,807,824 (GRCm39)		probably null	Het
Nvl	T	C	1: 180,939,867 (GRCm39)	T628A	probably damaging	Het
Pms2	A	G	5: 143,856,416 (GRCm39)	D7G	probably damaging	Het
Srrm3	G	A	5: 135,881,780 (GRCm39)		probably null	Het
Stradb	G	A	1: 59,028,957 (GRCm39)	G142S	probably null	Het
Txndc11	C	T	16: 10,909,661 (GRCm39)		probably benign	Het

Other mutations in Pgm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Pgm5	APN	19	24,812,130 (GRCm39)	missense	possibly damaging	0.65
IGL01318:Pgm5	APN	19	24,793,842 (GRCm39)	missense	probably damaging	1.00
IGL01372:Pgm5	APN	19	24,710,985 (GRCm39)	missense	probably damaging	1.00
IGL01541:Pgm5	APN	19	24,793,777 (GRCm39)	missense	probably damaging	1.00
IGL01648:Pgm5	APN	19	24,801,715 (GRCm39)	missense	probably damaging	0.99
IGL02049:Pgm5	APN	19	24,801,782 (GRCm39)	missense	probably benign	0.00
IGL02827:Pgm5	APN	19	24,686,659 (GRCm39)	missense	probably benign	0.16
IGL02975:Pgm5	APN	19	24,812,212 (GRCm39)	missense	probably benign	0.00
3-1:Pgm5	UTSW	19	24,705,152 (GRCm39)	missense	probably benign	0.02
PIT4466001:Pgm5	UTSW	19	24,801,693 (GRCm39)	missense	probably damaging	1.00
R0013:Pgm5	UTSW	19	24,710,904 (GRCm39)	critical splice donor site	probably null
R0047:Pgm5	UTSW	19	24,661,920 (GRCm39)	missense	probably damaging	0.98
R0180:Pgm5	UTSW	19	24,793,127 (GRCm39)	missense	probably damaging	1.00
R0317:Pgm5	UTSW	19	24,801,763 (GRCm39)	missense	possibly damaging	0.55
R0478:Pgm5	UTSW	19	24,812,233 (GRCm39)	missense	possibly damaging	0.45
R1587:Pgm5	UTSW	19	24,793,113 (GRCm39)	missense	probably damaging	1.00
R2017:Pgm5	UTSW	19	24,801,676 (GRCm39)	missense	probably benign	0.06
R2087:Pgm5	UTSW	19	24,710,927 (GRCm39)	missense	probably damaging	0.99
R2152:Pgm5	UTSW	19	24,812,179 (GRCm39)	missense	probably damaging	1.00
R2169:Pgm5	UTSW	19	24,812,179 (GRCm39)	missense	probably damaging	1.00
R3851:Pgm5	UTSW	19	24,797,567 (GRCm39)	missense	probably damaging	1.00
R4034:Pgm5	UTSW	19	24,839,021 (GRCm39)	missense	probably damaging	0.96
R4489:Pgm5	UTSW	19	24,793,809 (GRCm39)	missense	probably benign	0.12
R4630:Pgm5	UTSW	19	24,812,110 (GRCm39)	nonsense	probably null
R4736:Pgm5	UTSW	19	24,812,169 (GRCm39)	missense	probably damaging	1.00
R5186:Pgm5	UTSW	19	24,797,492 (GRCm39)	missense	probably damaging	1.00
R5414:Pgm5	UTSW	19	24,686,689 (GRCm39)	missense	probably damaging	0.99
R5558:Pgm5	UTSW	19	24,801,815 (GRCm39)	splice site	probably null
R5617:Pgm5	UTSW	19	24,727,765 (GRCm39)	nonsense	probably null
R6142:Pgm5	UTSW	19	24,801,772 (GRCm39)	missense	probably damaging	1.00
R6648:Pgm5	UTSW	19	24,838,996 (GRCm39)	missense	probably benign	0.02
R6821:Pgm5	UTSW	19	24,839,011 (GRCm39)	missense	possibly damaging	0.88
R7360:Pgm5	UTSW	19	24,812,181 (GRCm39)	missense	probably damaging	1.00
R7421:Pgm5	UTSW	19	24,686,663 (GRCm39)	missense	probably benign	0.03
R7590:Pgm5	UTSW	19	24,686,629 (GRCm39)	missense	probably damaging	1.00
R7610:Pgm5	UTSW	19	24,812,120 (GRCm39)	missense	probably damaging	1.00
R7685:Pgm5	UTSW	19	24,705,215 (GRCm39)	missense	probably benign	0.45
R8254:Pgm5	UTSW	19	24,705,089 (GRCm39)	missense	probably benign	0.18
R8405:Pgm5	UTSW	19	24,705,106 (GRCm39)	missense	probably benign	0.01
R8516:Pgm5	UTSW	19	24,793,074 (GRCm39)	missense	probably benign
R8755:Pgm5	UTSW	19	24,812,212 (GRCm39)	missense	probably damaging	0.98
R9236:Pgm5	UTSW	19	24,839,003 (GRCm39)	missense	probably benign	0.02

Posted On

2012-10-29