Incidental Mutation 'R8405:Pgm5'
ID |
652386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pgm5
|
Ensembl Gene |
ENSMUSG00000041731 |
Gene Name |
phosphoglucomutase 5 |
Synonyms |
9530034F03Rik, aciculin |
MMRRC Submission |
067879-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R8405 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
24660380-24839219 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24705106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 469
(H469L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047666]
|
AlphaFold |
Q8BZF8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047666
AA Change: H469L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000036025 Gene: ENSMUSG00000041731 AA Change: H469L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (49/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
T |
C |
3: 153,635,165 (GRCm39) |
|
probably benign |
Het |
Anxa3 |
C |
A |
5: 96,978,295 (GRCm39) |
D226E |
probably benign |
Het |
Anxa8 |
T |
C |
14: 33,819,881 (GRCm39) |
L290P |
probably damaging |
Het |
Brd4 |
C |
A |
17: 32,448,505 (GRCm39) |
K57N |
unknown |
Het |
Cpne8 |
T |
A |
15: 90,456,235 (GRCm39) |
Q176L |
possibly damaging |
Het |
Csf2rb2 |
T |
C |
15: 78,172,093 (GRCm39) |
D439G |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,619,379 (GRCm39) |
S1832P |
probably damaging |
Het |
Cux1 |
A |
G |
5: 136,304,241 (GRCm39) |
S1320P |
possibly damaging |
Het |
Cyp2t4 |
A |
T |
7: 26,856,894 (GRCm39) |
|
probably null |
Het |
Dnah2 |
A |
T |
11: 69,349,289 (GRCm39) |
L2449Q |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,379,192 (GRCm39) |
M640V |
probably benign |
Het |
Efcab3 |
G |
A |
11: 104,612,024 (GRCm39) |
S622N |
probably benign |
Het |
Ergic1 |
T |
A |
17: 26,874,096 (GRCm39) |
I274N |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,907,167 (GRCm39) |
D2945G |
probably damaging |
Het |
Fscb |
T |
C |
12: 64,520,278 (GRCm39) |
E396G |
possibly damaging |
Het |
Gab1 |
T |
A |
8: 81,501,594 (GRCm39) |
R581* |
probably null |
Het |
Gabarapl1 |
A |
G |
6: 129,514,497 (GRCm39) |
D45G |
probably null |
Het |
Gfap |
C |
A |
11: 102,782,255 (GRCm39) |
Q418H |
probably benign |
Het |
Gfap |
T |
A |
11: 102,782,256 (GRCm39) |
Q418L |
probably benign |
Het |
Hectd1 |
T |
A |
12: 51,874,178 (GRCm39) |
M33L |
probably benign |
Het |
Kcnh7 |
T |
A |
2: 62,533,446 (GRCm39) |
K1144N |
probably benign |
Het |
Lrit3 |
C |
T |
3: 129,582,301 (GRCm39) |
G562D |
probably benign |
Het |
Mab21l1 |
A |
T |
3: 55,690,659 (GRCm39) |
Q82L |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
Nav1 |
T |
C |
1: 135,382,508 (GRCm39) |
K1258R |
unknown |
Het |
Nbas |
C |
A |
12: 13,329,394 (GRCm39) |
A113E |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,073,356 (GRCm39) |
D162E |
possibly damaging |
Het |
Nr2c1 |
A |
T |
10: 94,031,155 (GRCm39) |
H572L |
probably benign |
Het |
Or52s1 |
A |
T |
7: 102,861,408 (GRCm39) |
I114F |
probably benign |
Het |
Or56b2j |
T |
A |
7: 104,353,208 (GRCm39) |
S145T |
probably benign |
Het |
Pcdha12 |
T |
A |
18: 37,154,250 (GRCm39) |
V323E |
possibly damaging |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pja2 |
T |
C |
17: 64,616,505 (GRCm39) |
E130G |
possibly damaging |
Het |
Ppp2r2b |
G |
C |
18: 42,778,805 (GRCm39) |
D443E |
probably benign |
Het |
Prdm9 |
T |
A |
17: 15,764,456 (GRCm39) |
T775S |
probably benign |
Het |
Rbm6 |
A |
G |
9: 107,730,016 (GRCm39) |
S211P |
probably benign |
Het |
Rgl2 |
C |
T |
17: 34,152,698 (GRCm39) |
Q408* |
probably null |
Het |
Rgs14 |
C |
T |
13: 55,530,962 (GRCm39) |
R389W |
probably damaging |
Het |
Rtcb |
T |
C |
10: 85,793,534 (GRCm39) |
D13G |
probably benign |
Het |
Slc23a4 |
C |
T |
6: 34,923,145 (GRCm39) |
C280Y |
probably benign |
Het |
Slc7a5 |
G |
T |
8: 122,613,661 (GRCm39) |
T297K |
possibly damaging |
Het |
Spef2 |
A |
G |
15: 9,612,643 (GRCm39) |
V1229A |
probably benign |
Het |
Stag3 |
A |
C |
5: 138,302,914 (GRCm39) |
T1064P |
probably damaging |
Het |
Tnnt1 |
A |
G |
7: 4,510,592 (GRCm39) |
S211P |
probably damaging |
Het |
Trim26 |
A |
G |
17: 37,167,095 (GRCm39) |
D262G |
possibly damaging |
Het |
Trim30a |
A |
T |
7: 104,060,749 (GRCm39) |
Y342* |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,658,755 (GRCm39) |
I1134V |
probably benign |
Het |
Tsc22d1 |
G |
A |
14: 76,655,734 (GRCm39) |
G738S |
probably damaging |
Het |
Usp39 |
A |
G |
6: 72,305,521 (GRCm39) |
F421L |
probably damaging |
Het |
Vmn2r97 |
G |
A |
17: 19,134,802 (GRCm39) |
|
probably null |
Het |
Zfat |
T |
C |
15: 68,018,410 (GRCm39) |
Y968C |
probably damaging |
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 |
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 |
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'- CCATTCTCTGCTTGTAATGAGGTAAC -3'
(R):5'- AGGTCCACTCAATTGCCCAC -3'
Sequencing Primer
(F):5'- GCTCTGCTGTTCAAAGTGAAGAAC -3'
(R):5'- AATTGCCCACCCTCTGATTGG -3'
|
Posted On |
2020-10-20 |