Incidental Mutation 'R4489:Pgm5'
| ID |
330656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgm5
|
| Ensembl Gene |
ENSMUSG00000041731 |
| Gene Name |
phosphoglucomutase 5 |
| Synonyms |
9530034F03Rik, aciculin |
| MMRRC Submission |
041745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R4489 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
24660380-24839219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24793809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 285
(E285G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047666]
|
| AlphaFold |
Q8BZF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047666
AA Change: E285G
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: E285G
| 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 |
0.0770 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
94% (50/53) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,734,086 (GRCm39) |
A754V |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,165,479 (GRCm39) |
N582S |
probably benign |
Het |
| Arnt2 |
T |
A |
7: 83,924,553 (GRCm39) |
T425S |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Cand2 |
A |
G |
6: 115,766,427 (GRCm39) |
D344G |
probably damaging |
Het |
| Clta |
T |
G |
4: 44,032,417 (GRCm39) |
F198V |
probably damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Csmd2 |
G |
A |
4: 128,275,738 (GRCm39) |
V826M |
possibly damaging |
Het |
| Dnah11 |
C |
T |
12: 117,880,631 (GRCm39) |
V3830I |
probably benign |
Het |
| Fhl4 |
T |
C |
10: 84,934,319 (GRCm39) |
D154G |
possibly damaging |
Het |
| Gbp4 |
T |
A |
5: 105,269,773 (GRCm39) |
T352S |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,368,548 (GRCm39) |
D1076G |
probably damaging |
Het |
| Gm21370 |
T |
A |
13: 120,488,378 (GRCm39) |
Y57F |
probably benign |
Het |
| Gm6489 |
A |
G |
1: 31,326,320 (GRCm39) |
|
noncoding transcript |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,424,320 (GRCm39) |
I660R |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,551,501 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
A |
8: 69,588,347 (GRCm39) |
K536N |
possibly damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,063,928 (GRCm39) |
N49K |
probably benign |
Het |
| Mzt1 |
T |
C |
14: 99,273,926 (GRCm39) |
*42W |
probably null |
Het |
| Nkx3-2 |
T |
G |
5: 41,919,304 (GRCm39) |
Q228P |
probably damaging |
Het |
| Nufip2 |
T |
G |
11: 77,577,055 (GRCm39) |
M1R |
probably null |
Het |
| Obscn |
G |
A |
11: 58,922,417 (GRCm39) |
T5921M |
possibly damaging |
Het |
| Or4c116 |
T |
C |
2: 88,941,916 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,969 (GRCm39) |
Q533K |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Potefam1 |
A |
G |
2: 111,051,047 (GRCm39) |
Y250H |
probably benign |
Het |
| Rgs21 |
T |
C |
1: 144,395,613 (GRCm39) |
T92A |
possibly damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,703,282 (GRCm39) |
Y123F |
probably benign |
Het |
| Rnf13 |
A |
C |
3: 57,728,010 (GRCm39) |
K230T |
probably damaging |
Het |
| Sgf29 |
T |
C |
7: 126,263,110 (GRCm39) |
S29P |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Specc1 |
T |
G |
11: 62,042,653 (GRCm39) |
|
probably null |
Het |
| Tg |
A |
T |
15: 66,579,791 (GRCm39) |
Q1532L |
probably damaging |
Het |
| Timm44 |
A |
C |
8: 4,316,654 (GRCm39) |
S297A |
possibly damaging |
Het |
| Txndc9 |
G |
T |
1: 38,034,871 (GRCm39) |
S11* |
probably null |
Het |
| Uggt1 |
C |
T |
1: 36,185,749 (GRCm39) |
W1478* |
probably null |
Het |
| Washc3 |
T |
C |
10: 88,051,893 (GRCm39) |
V87A |
probably benign |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
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 |
|
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 |
|
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'- TTATCTAGCACTGAACGGCCG -3'
(R):5'- AAACACCCAGGGAAGAGTATTC -3'
Sequencing Primer
(F):5'- CCAGTCTCTGGTTTCTGA -3'
(R):5'- CCGCAATAAACTGTGTCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation