Incidental Mutation 'R3686:Pgm3'
| ID |
269531 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3686 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
86436430-86453895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86441563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 345
(P345T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034987]
[ENSMUST00000070064]
[ENSMUST00000072585]
[ENSMUST00000185919]
[ENSMUST00000189817]
[ENSMUST00000190957]
|
| AlphaFold |
Q9CYR6 |
| PDB Structure |
Solution structure of the C-terminal domain of mouse phosphoacetylglucosamine mutase (PAGM) [SOLUTION NMR]
|
| 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: P345T
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: P345T
| 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 |
probably benign
Transcript: ENSMUST00000072585
AA Change: P345T
PolyPhen 2
Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: P345T
| 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: ENSMUST00000189817
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb16 |
T |
A |
11: 102,159,885 (GRCm39) |
D79E |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| B230307C23Rik |
T |
A |
16: 97,810,199 (GRCm39) |
N62K |
probably benign |
Het |
| B3galnt2 |
G |
A |
13: 14,150,220 (GRCm39) |
|
probably null |
Het |
| Bnip2 |
T |
A |
9: 69,906,432 (GRCm39) |
Y118N |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,349,916 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,422,160 (GRCm39) |
S95P |
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,494,748 (GRCm39) |
E919K |
possibly damaging |
Het |
| Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
| Hr |
T |
A |
14: 70,795,236 (GRCm39) |
N289K |
probably damaging |
Het |
| Hsp90ab1 |
A |
G |
17: 45,880,214 (GRCm39) |
Y110H |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,890,425 (GRCm39) |
V1258A |
probably damaging |
Het |
| Naa11 |
A |
T |
5: 97,539,648 (GRCm39) |
V170E |
probably benign |
Het |
| Nmd3 |
C |
T |
3: 69,654,095 (GRCm39) |
R413C |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,914 (GRCm39) |
V107F |
probably benign |
Het |
| Or56b2 |
A |
G |
7: 104,337,599 (GRCm39) |
I126V |
probably benign |
Het |
| Ptpn14 |
C |
A |
1: 189,583,596 (GRCm39) |
D814E |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,021,912 (GRCm39) |
V624E |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,384,361 (GRCm39) |
K212E |
probably benign |
Het |
| Shisa2 |
T |
A |
14: 59,867,228 (GRCm39) |
L160Q |
probably damaging |
Het |
| Strn4 |
A |
G |
7: 16,556,506 (GRCm39) |
Y123C |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 178,016,177 (GRCm39) |
T762A |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,471,959 (GRCm39) |
K534E |
possibly damaging |
Het |
| Trdn |
A |
T |
10: 33,344,185 (GRCm39) |
D633V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,333 (GRCm39) |
Y4572C |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,054,920 (GRCm39) |
N921K |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,644,397 (GRCm39) |
V671A |
probably damaging |
Het |
| Wdr86 |
T |
A |
5: 24,923,339 (GRCm39) |
T118S |
probably damaging |
Het |
| Zfp446 |
T |
A |
7: 12,716,580 (GRCm39) |
I517N |
probably damaging |
Het |
| Zfp830 |
G |
A |
11: 82,656,188 (GRCm39) |
E331K |
possibly damaging |
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 |
|
IGL02800:Pgm3
|
APN |
9 |
86,437,431 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGCCTCATTCTTCATACAAGATC -3'
(R):5'- TTCCTCCAGACTGCAGCTAAGG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GTAACTTCTGAAGACAGGTGATGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation