Incidental Mutation 'R0536:Pgm3'
| ID |
49462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgm3
|
| Ensembl Gene |
ENSMUSG00000056131 |
| Gene Name |
phosphoglucomutase 3 |
| Synonyms |
Pgm-3, 2810473H05Rik, GlcNAc-P mutase |
| MMRRC Submission |
038728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R0536 (G1)
|
| Quality Score |
144 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
86436430-86453895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86449589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 144
(V144M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034988]
[ENSMUST00000070064]
[ENSMUST00000072585]
[ENSMUST00000179212]
[ENSMUST00000185566]
|
| AlphaFold |
Q9CYR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034988
|
| SMART Domains |
Protein: ENSMUSP00000034988
Gene: ENSMUSG00000032417
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
14 |
134 |
1.22e-25 |
SMART |
|
Pfam:DUF1115
|
160 |
283 |
7.7e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070064
AA Change: V144M
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: V144M
| 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: V144M
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: V144M
| 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: ENSMUST00000179212
|
| SMART Domains |
Protein: ENSMUSP00000137392
Gene: ENSMUSG00000032417
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
14 |
134 |
1.22e-25 |
SMART |
|
Pfam:DUF1115
|
158 |
282 |
1.1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185566
|
| SMART Domains |
Protein: ENSMUSP00000139930
Gene: ENSMUSG00000032417
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
14 |
134 |
1.22e-25 |
SMART |
|
Pfam:DUF1115
|
160 |
283 |
7.7e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187251
|
| Meta Mutation Damage Score |
0.1607 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (29/29) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,171,342 (GRCm39) |
|
probably benign |
Het |
| Agrn |
A |
T |
4: 156,264,010 (GRCm39) |
D84E |
probably benign |
Het |
| Akap11 |
A |
G |
14: 78,751,464 (GRCm39) |
S308P |
probably damaging |
Het |
| Atp6v1c2 |
A |
T |
12: 17,357,509 (GRCm39) |
|
probably null |
Het |
| AW209491 |
A |
G |
13: 14,811,558 (GRCm39) |
Y137C |
probably damaging |
Het |
| Chst9 |
G |
A |
18: 15,628,387 (GRCm39) |
|
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,223,826 (GRCm39) |
T122A |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Ikzf4 |
T |
A |
10: 128,477,118 (GRCm39) |
E64D |
probably benign |
Het |
| Kif21a |
C |
A |
15: 90,843,886 (GRCm39) |
|
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,658,951 (GRCm39) |
R2036C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,622,839 (GRCm39) |
V311D |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,820,757 (GRCm39) |
V1903A |
possibly damaging |
Het |
| Naa30 |
C |
T |
14: 49,410,534 (GRCm39) |
A154V |
possibly damaging |
Het |
| Or2ag1 |
T |
A |
7: 106,313,528 (GRCm39) |
Y120F |
probably damaging |
Het |
| Or52z12 |
T |
C |
7: 103,233,468 (GRCm39) |
S80P |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,625 (GRCm39) |
Q139K |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,927 (GRCm39) |
S211C |
probably damaging |
Het |
| Setx |
T |
C |
2: 29,048,260 (GRCm39) |
Y1954H |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,791,137 (GRCm39) |
Q1162* |
probably null |
Het |
| Sptbn2 |
T |
A |
19: 4,776,718 (GRCm39) |
D255E |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,145,435 (GRCm39) |
E597G |
probably damaging |
Het |
| Vldlr |
G |
A |
19: 27,217,364 (GRCm39) |
A436T |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,064,690 (GRCm39) |
G574D |
probably damaging |
Het |
| Zzz3 |
T |
G |
3: 152,154,465 (GRCm39) |
I572S |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAGCAGGCAAAAGGTGTCACAAG -3'
(R):5'- GCATCATTGTACCTGACTGGCTCTC -3'
Sequencing Primer
(F):5'- GCAAAAAGATTTAATATGCTCTGCC -3'
(R):5'- tctgtagtctgtaaatttgaaagcc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation