Incidental Mutation 'R0478:Pgm5'
ID |
43225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pgm5
|
Ensembl Gene |
ENSMUSG00000041731 |
Gene Name |
phosphoglucomutase 5 |
Synonyms |
9530034F03Rik, aciculin |
MMRRC Submission |
038678-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R0478 (G1)
|
Quality Score |
206 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
24660380-24839219 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24812233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 100
(S100T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047666]
|
AlphaFold |
Q8BZF8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047666
AA Change: S100T
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000036025 Gene: ENSMUSG00000041731 AA Change: S100T
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 |
0.5503 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (49/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
4930556J24Rik |
T |
G |
11: 3,926,259 (GRCm39) |
|
probably benign |
Het |
Acnat1 |
T |
G |
4: 49,450,901 (GRCm39) |
D70A |
probably damaging |
Het |
Adnp2 |
A |
G |
18: 80,172,549 (GRCm39) |
V620A |
probably benign |
Het |
Aldoart1 |
T |
A |
4: 72,770,580 (GRCm39) |
H21L |
probably benign |
Het |
Birc2 |
A |
G |
9: 7,860,348 (GRCm39) |
V290A |
probably damaging |
Het |
Bpifb3 |
C |
T |
2: 153,773,400 (GRCm39) |
|
probably benign |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Clmn |
A |
G |
12: 104,751,750 (GRCm39) |
M235T |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,642,917 (GRCm39) |
E245G |
possibly damaging |
Het |
Epgn |
G |
T |
5: 91,178,987 (GRCm39) |
V36L |
probably benign |
Het |
Ets2 |
C |
A |
16: 95,517,306 (GRCm39) |
P346Q |
probably damaging |
Het |
Fam222b |
T |
C |
11: 78,044,682 (GRCm39) |
L81P |
probably damaging |
Het |
Fancf |
A |
C |
7: 51,511,440 (GRCm39) |
L188R |
probably damaging |
Het |
Fibin |
T |
C |
2: 110,193,079 (GRCm39) |
D21G |
possibly damaging |
Het |
Fzd6 |
A |
G |
15: 38,897,429 (GRCm39) |
|
probably null |
Het |
Gbp4 |
T |
A |
5: 105,267,299 (GRCm39) |
Q540L |
probably benign |
Het |
Greb1l |
T |
A |
18: 10,509,281 (GRCm39) |
L531Q |
probably damaging |
Het |
Il5ra |
A |
G |
6: 106,715,423 (GRCm39) |
V137A |
probably benign |
Het |
Kif26a |
G |
A |
12: 112,142,223 (GRCm39) |
A826T |
probably damaging |
Het |
Kiz |
T |
C |
2: 146,784,078 (GRCm39) |
V537A |
possibly damaging |
Het |
Klhl32 |
C |
T |
4: 24,792,777 (GRCm39) |
G15D |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
Lbp |
T |
C |
2: 158,159,448 (GRCm39) |
|
probably benign |
Het |
Mmp25 |
T |
C |
17: 23,851,756 (GRCm39) |
T318A |
probably benign |
Het |
Mrpl50 |
A |
G |
4: 49,514,513 (GRCm39) |
C53R |
probably damaging |
Het |
Msl3l2 |
G |
C |
10: 55,991,411 (GRCm39) |
E45D |
probably damaging |
Het |
Nfxl1 |
A |
G |
5: 72,681,988 (GRCm39) |
|
probably null |
Het |
Noc3l |
A |
G |
19: 38,798,450 (GRCm39) |
|
probably null |
Het |
Or12e7 |
T |
A |
2: 87,288,370 (GRCm39) |
V287E |
probably damaging |
Het |
Or1x6 |
T |
C |
11: 50,939,539 (GRCm39) |
S202P |
probably benign |
Het |
Pi4ka |
C |
T |
16: 17,127,175 (GRCm39) |
G1093S |
possibly damaging |
Het |
Pitrm1 |
T |
A |
13: 6,609,431 (GRCm39) |
S350T |
probably damaging |
Het |
Ptk2b |
G |
T |
14: 66,450,821 (GRCm39) |
N48K |
probably damaging |
Het |
Septin3 |
T |
C |
15: 82,175,007 (GRCm39) |
L172P |
probably damaging |
Het |
Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
Sphkap |
C |
T |
1: 83,256,432 (GRCm39) |
R152H |
probably damaging |
Het |
St3gal1 |
T |
C |
15: 66,985,579 (GRCm39) |
Y25C |
probably damaging |
Het |
Tbc1d31 |
T |
C |
15: 57,795,932 (GRCm39) |
F175S |
probably damaging |
Het |
Tfdp2 |
T |
A |
9: 96,172,636 (GRCm39) |
D43E |
probably benign |
Het |
Tgm1 |
G |
A |
14: 55,937,791 (GRCm39) |
Q773* |
probably null |
Het |
Tmc3 |
A |
T |
7: 83,271,360 (GRCm39) |
R837S |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,103,792 (GRCm39) |
V880A |
possibly damaging |
Het |
Vmn1r237 |
T |
A |
17: 21,535,081 (GRCm39) |
V268E |
probably damaging |
Het |
Zan |
C |
T |
5: 137,398,788 (GRCm39) |
|
probably benign |
Het |
Zfp760 |
G |
T |
17: 21,940,995 (GRCm39) |
E57* |
probably null |
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 |
P0047:Pgm5
|
UTSW |
19 |
24,793,785 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGACTAGCCCTGTGCATCTGAG -3'
(R):5'- AGCTTTCCTACCACAGAGTCTGTCC -3'
Sequencing Primer
(F):5'- GAATCATATCGCCTTGGGCATC -3'
(R):5'- TCCATGAACCTTGGACTGAC -3'
|
Posted On |
2013-05-23 |