Incidental Mutation 'IGL01541:Pgm5'
| ID |
90143 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pgm5
|
| Ensembl Gene |
ENSMUSG00000041731 |
| Gene Name |
phosphoglucomutase 5 |
| Synonyms |
9530034F03Rik, aciculin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
IGL01541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
24660380-24839219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24793777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 296
(G296W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047666]
|
| AlphaFold |
Q8BZF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047666
AA Change: G296W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: G296W
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,762,205 (GRCm39) |
S505G |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,985,243 (GRCm39) |
H2176Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,572 (GRCm39) |
D2544Y |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,350,283 (GRCm39) |
F88L |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,723 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,708,907 (GRCm39) |
V1251A |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,129,955 (GRCm39) |
F273I |
possibly damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,965 (GRCm39) |
C104R |
probably damaging |
Het |
| Ercc3 |
A |
T |
18: 32,381,372 (GRCm39) |
D396V |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,940,014 (GRCm39) |
D556V |
probably damaging |
Het |
| Frg1 |
C |
T |
8: 41,863,362 (GRCm39) |
|
probably benign |
Het |
| Fto |
T |
C |
8: 92,136,376 (GRCm39) |
Y217H |
probably damaging |
Het |
| Garin4 |
A |
T |
1: 190,896,606 (GRCm39) |
Y12* |
probably null |
Het |
| Grin3a |
A |
T |
4: 49,792,533 (GRCm39) |
V400E |
probably damaging |
Het |
| Gtse1 |
T |
A |
15: 85,759,855 (GRCm39) |
L682* |
probably null |
Het |
| Igkv6-32 |
A |
G |
6: 70,051,290 (GRCm39) |
I22T |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,215,905 (GRCm39) |
C35R |
probably damaging |
Het |
| Lzts3 |
A |
T |
2: 130,478,126 (GRCm39) |
L324Q |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,236,069 (GRCm39) |
R453* |
probably null |
Het |
| Naa35 |
T |
A |
13: 59,748,777 (GRCm39) |
H132Q |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,805,272 (GRCm39) |
C3275S |
probably damaging |
Het |
| Podxl2 |
A |
G |
6: 88,826,331 (GRCm39) |
L325P |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,371,050 (GRCm39) |
|
probably null |
Het |
| Rab12 |
T |
C |
17: 66,804,404 (GRCm39) |
S185G |
probably damaging |
Het |
| Rnf43 |
T |
G |
11: 87,621,046 (GRCm39) |
M313R |
probably null |
Het |
| Rusc2 |
T |
C |
4: 43,415,840 (GRCm39) |
V382A |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,516,618 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,816,770 (GRCm39) |
I10T |
probably benign |
Het |
| Smpd1 |
T |
C |
7: 105,205,033 (GRCm39) |
F304S |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,044,725 (GRCm39) |
V1454I |
probably benign |
Het |
| Tdrd7 |
A |
T |
4: 46,018,551 (GRCm39) |
I722F |
possibly damaging |
Het |
| Topors |
T |
C |
4: 40,262,364 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,807,502 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,778 (GRCm39) |
M169I |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,257 (GRCm39) |
S789G |
unknown |
Het |
| Zfp629 |
G |
T |
7: 127,211,917 (GRCm39) |
|
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,230,156 (GRCm39) |
R123I |
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 |
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation