Incidental Mutation 'IGL02800:Pgm3'
| ID |
360136 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pgm3
|
| Ensembl Gene |
ENSMUSG00000056131 |
| Gene Name |
phosphoglucomutase 3 |
| Synonyms |
Pgm-3, 2810473H05Rik, GlcNAc-P mutase |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
IGL02800
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
86436430-86453895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86437431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 481
(E481G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034987]
[ENSMUST00000070064]
[ENSMUST00000072585]
[ENSMUST00000185919]
[ENSMUST00000190957]
[ENSMUST00000189817]
|
| AlphaFold |
Q9CYR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034987
|
| SMART Domains |
Protein: ENSMUSP00000034987
Gene: ENSMUSG00000034973
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dopey_N
|
11 |
300 |
1e-117 |
PFAM |
|
low complexity region
|
631 |
649 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1281 |
N/A |
INTRINSIC |
|
low complexity region
|
1296 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1335 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1362 |
1373 |
N/A |
INTRINSIC |
|
low complexity region
|
1575 |
1589 |
N/A |
INTRINSIC |
|
low complexity region
|
2217 |
2227 |
N/A |
INTRINSIC |
|
low complexity region
|
2351 |
2362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070064
AA Change: E522G
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: E522G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGM_PMM_I
|
44 |
102 |
6.5e-9 |
PFAM |
|
Pfam:PGM_PMM_I
|
96 |
174 |
4.3e-9 |
PFAM |
|
Pfam:PGM_PMM_IV
|
443 |
528 |
8.9e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072585
AA Change: E481G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: E481G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGM_PMM_I
|
44 |
102 |
2.5e-10 |
PFAM |
|
Pfam:PGM_PMM_I
|
95 |
175 |
3.6e-11 |
PFAM |
|
Pfam:PGM_PMM_II
|
181 |
291 |
9.4e-14 |
PFAM |
|
SCOP:d3pmga3
|
298 |
374 |
1e-8 |
SMART |
|
Pfam:PGM_PMM_IV
|
383 |
487 |
8.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185919
|
| SMART Domains |
Protein: ENSMUSP00000140040
Gene: ENSMUSG00000034973
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dopey_N
|
10 |
306 |
1.9e-106 |
PFAM |
|
low complexity region
|
629 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
959 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
1071 |
1082 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1116 |
N/A |
INTRINSIC |
|
low complexity region
|
1266 |
1279 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1316 |
N/A |
INTRINSIC |
|
low complexity region
|
1333 |
1342 |
N/A |
INTRINSIC |
|
low complexity region
|
1360 |
1371 |
N/A |
INTRINSIC |
|
low complexity region
|
1573 |
1587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189564
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190957
|
| SMART Domains |
Protein: ENSMUSP00000140740
Gene: ENSMUSG00000034973
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dopey_N
|
10 |
305 |
1.3e-108 |
PFAM |
|
low complexity region
|
631 |
649 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1281 |
N/A |
INTRINSIC |
|
low complexity region
|
1296 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1335 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1362 |
1373 |
N/A |
INTRINSIC |
|
low complexity region
|
1575 |
1589 |
N/A |
INTRINSIC |
|
low complexity region
|
2217 |
2227 |
N/A |
INTRINSIC |
|
low complexity region
|
2351 |
2362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189817
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility, anemia, leukopenia, thrombocytopenia, abnormal pancreatic and salivary gland morphology, and splenomegaly. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,296,349 (GRCm39) |
I1045T |
probably damaging |
Het |
| Ankrd22 |
T |
C |
19: 34,143,181 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,163,760 (GRCm39) |
D686G |
probably damaging |
Het |
| Carns1 |
A |
G |
19: 4,216,569 (GRCm39) |
|
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,483,333 (GRCm39) |
L306F |
probably benign |
Het |
| Ccdc153 |
A |
G |
9: 44,157,129 (GRCm39) |
E135G |
probably damaging |
Het |
| Ccne1 |
T |
C |
7: 37,802,224 (GRCm39) |
D148G |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,471,947 (GRCm39) |
M144K |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,826,552 (GRCm39) |
V1049A |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,279,034 (GRCm39) |
D476G |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,797,504 (GRCm39) |
|
probably null |
Het |
| Eif4h |
T |
C |
5: 134,656,459 (GRCm39) |
D77G |
probably benign |
Het |
| Fhl2 |
C |
T |
1: 43,167,562 (GRCm39) |
R177Q |
probably benign |
Het |
| Fxyd5 |
C |
T |
7: 30,732,404 (GRCm39) |
R176H |
possibly damaging |
Het |
| G6pd2 |
A |
G |
5: 61,966,735 (GRCm39) |
E170G |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,323,668 (GRCm39) |
I314T |
possibly damaging |
Het |
| Igkv4-54 |
A |
G |
6: 69,608,862 (GRCm39) |
V41A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,053,092 (GRCm39) |
C461S |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,657,838 (GRCm39) |
D442G |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,015,183 (GRCm39) |
I847V |
probably damaging |
Het |
| Mia2 |
C |
T |
12: 59,235,277 (GRCm39) |
R1326* |
probably null |
Het |
| Myo15a |
C |
A |
11: 60,393,195 (GRCm39) |
H2240N |
probably damaging |
Het |
| Or1e17 |
A |
G |
11: 73,831,942 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or4f62 |
A |
T |
2: 111,986,589 (GRCm39) |
I98F |
possibly damaging |
Het |
| Osgep |
T |
A |
14: 51,153,314 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
G |
A |
10: 76,248,417 (GRCm39) |
Q901* |
probably null |
Het |
| Plch1 |
T |
A |
3: 63,605,899 (GRCm39) |
D1326V |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,299,623 (GRCm39) |
D590G |
possibly damaging |
Het |
| Rapsn |
A |
G |
2: 90,873,584 (GRCm39) |
M244V |
probably benign |
Het |
| Rcbtb2 |
T |
A |
14: 73,405,543 (GRCm39) |
Y299* |
probably null |
Het |
| Slc8a1 |
A |
T |
17: 81,715,752 (GRCm39) |
D760E |
probably benign |
Het |
| Smim23 |
C |
A |
11: 32,774,424 (GRCm39) |
|
probably null |
Het |
| Sva |
A |
G |
6: 42,017,069 (GRCm39) |
T59A |
unknown |
Het |
| Tacc2 |
T |
A |
7: 130,225,809 (GRCm39) |
D831E |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,635,154 (GRCm39) |
N551S |
probably benign |
Het |
| Tg |
G |
T |
15: 66,629,735 (GRCm39) |
W472L |
probably damaging |
Het |
| Tmem231 |
A |
G |
8: 112,640,664 (GRCm39) |
V283A |
probably benign |
Het |
| Traf4 |
A |
T |
11: 78,051,061 (GRCm39) |
I365N |
possibly damaging |
Het |
| Usf3 |
G |
A |
16: 44,039,459 (GRCm39) |
S1313N |
probably benign |
Het |
| Vangl1 |
G |
A |
3: 102,070,611 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
C |
15: 8,111,980 (GRCm39) |
S88G |
probably benign |
Het |
|
| Other mutations in Pgm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Pgm3
|
APN |
9 |
86,443,932 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01865:Pgm3
|
APN |
9 |
86,437,371 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6592_Pgm3_648
|
UTSW |
9 |
86,441,496 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7274_Pgm3_459
|
UTSW |
9 |
86,444,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Pgm3
|
UTSW |
9 |
86,446,726 (GRCm39) |
splice site |
probably benign |
|
|
R0038:Pgm3
|
UTSW |
9 |
86,446,726 (GRCm39) |
splice site |
probably benign |
|
|
R0266:Pgm3
|
UTSW |
9 |
86,449,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0536:Pgm3
|
UTSW |
9 |
86,449,589 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0617:Pgm3
|
UTSW |
9 |
86,438,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1499:Pgm3
|
UTSW |
9 |
86,452,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1780:Pgm3
|
UTSW |
9 |
86,438,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Pgm3
|
UTSW |
9 |
86,451,286 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1882:Pgm3
|
UTSW |
9 |
86,447,743 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1920:Pgm3
|
UTSW |
9 |
86,440,531 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2095:Pgm3
|
UTSW |
9 |
86,438,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2378:Pgm3
|
UTSW |
9 |
86,444,720 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2679:Pgm3
|
UTSW |
9 |
86,451,374 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3021:Pgm3
|
UTSW |
9 |
86,449,588 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3686:Pgm3
|
UTSW |
9 |
86,441,563 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4490:Pgm3
|
UTSW |
9 |
86,443,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Pgm3
|
UTSW |
9 |
86,440,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Pgm3
|
UTSW |
9 |
86,440,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4718:Pgm3
|
UTSW |
9 |
86,452,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Pgm3
|
UTSW |
9 |
86,451,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Pgm3
|
UTSW |
9 |
86,441,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Pgm3
|
UTSW |
9 |
86,444,732 (GRCm39) |
missense |
probably benign |
|
|
R4990:Pgm3
|
UTSW |
9 |
86,440,465 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5357:Pgm3
|
UTSW |
9 |
86,438,310 (GRCm39) |
nonsense |
probably null |
|
|
R5870:Pgm3
|
UTSW |
9 |
86,452,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6592:Pgm3
|
UTSW |
9 |
86,441,496 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6807:Pgm3
|
UTSW |
9 |
86,438,555 (GRCm39) |
splice site |
probably null |
|
|
R7152:Pgm3
|
UTSW |
9 |
86,449,593 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7274:Pgm3
|
UTSW |
9 |
86,444,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:Pgm3
|
UTSW |
9 |
86,446,828 (GRCm39) |
missense |
probably benign |
|
|
R8195:Pgm3
|
UTSW |
9 |
86,452,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9115:Pgm3
|
UTSW |
9 |
86,447,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9224:Pgm3
|
UTSW |
9 |
86,438,415 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9336:Pgm3
|
UTSW |
9 |
86,437,413 (GRCm39) |
missense |
probably benign |
|
|
R9422:Pgm3
|
UTSW |
9 |
86,443,938 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9705:Pgm3
|
UTSW |
9 |
86,437,414 (GRCm39) |
missense |
probably benign |
|
|
X0028:Pgm3
|
UTSW |
9 |
86,451,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Pgm3
|
UTSW |
9 |
86,446,760 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-12-18 |
Incidental Mutation