Incidental Mutation 'IGL01296:Pgm3'
| ID |
73110 |
| 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 # |
IGL01296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
86436430-86453895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86443932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 324
(V324A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070064]
[ENSMUST00000072585]
|
| AlphaFold |
Q9CYR6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070064
AA Change: V324A
PolyPhen 2
Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: V324A
| 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 damaging
Transcript: ENSMUST00000072585
AA Change: V324A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: V324A
| 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 |
noncoding transcript
Transcript: ENSMUST00000186193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190924
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
A |
G |
1: 66,880,864 (GRCm39) |
S301P |
probably damaging |
Het |
| Adam34 |
A |
G |
8: 44,104,178 (GRCm39) |
V489A |
possibly damaging |
Het |
| Adcy8 |
G |
A |
15: 64,655,628 (GRCm39) |
T617I |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,490,479 (GRCm39) |
D605G |
probably damaging |
Het |
| Atp10a |
T |
A |
7: 58,463,373 (GRCm39) |
F969I |
probably benign |
Het |
| Becn1 |
A |
T |
11: 101,182,277 (GRCm39) |
N97K |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Crtac1 |
A |
T |
19: 42,272,652 (GRCm39) |
C578S |
probably damaging |
Het |
| Dcp1b |
A |
G |
6: 119,192,319 (GRCm39) |
K412E |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,589,267 (GRCm39) |
I327N |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,098,500 (GRCm39) |
|
probably null |
Het |
| Elavl4 |
T |
C |
4: 110,063,809 (GRCm39) |
N264S |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,739,065 (GRCm39) |
I406N |
probably damaging |
Het |
| F10 |
A |
T |
8: 13,105,383 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Fam20a |
A |
G |
11: 109,576,177 (GRCm39) |
I194T |
possibly damaging |
Het |
| Fcgbp |
T |
C |
7: 27,789,072 (GRCm39) |
V546A |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,821,557 (GRCm39) |
Q1438L |
probably null |
Het |
| Gm43638 |
T |
C |
5: 87,608,451 (GRCm39) |
I463V |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,431,602 (GRCm39) |
D84G |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,376,322 (GRCm39) |
F1262L |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,052,046 (GRCm39) |
N335D |
probably benign |
Het |
| Lasp1 |
T |
C |
11: 97,727,016 (GRCm39) |
V246A |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,567,345 (GRCm39) |
I135L |
probably benign |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
T |
C |
7: 71,878,274 (GRCm39) |
K268R |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,938,957 (GRCm39) |
H710Q |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,385,731 (GRCm39) |
R13C |
unknown |
Het |
| Ogfod1 |
A |
T |
8: 94,782,299 (GRCm39) |
|
probably benign |
Het |
| Or1j11 |
A |
G |
2: 36,311,716 (GRCm39) |
Y102C |
probably benign |
Het |
| Or5b111 |
A |
G |
19: 13,291,490 (GRCm39) |
L53P |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,759,548 (GRCm39) |
I46T |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,694,068 (GRCm39) |
I681F |
probably damaging |
Het |
| Prss23 |
T |
C |
7: 89,159,095 (GRCm39) |
K325E |
possibly damaging |
Het |
| Psmd7 |
T |
A |
8: 108,313,249 (GRCm39) |
|
probably benign |
Het |
| Rfx2 |
T |
A |
17: 57,115,317 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rpa1 |
T |
C |
11: 75,203,141 (GRCm39) |
Y418C |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,505,875 (GRCm39) |
R1029H |
probably damaging |
Het |
| Septin10 |
A |
G |
10: 59,002,422 (GRCm39) |
V391A |
probably benign |
Het |
| Skint6 |
A |
G |
4: 113,093,637 (GRCm39) |
F169L |
probably benign |
Het |
| Slc44a4 |
C |
T |
17: 35,140,674 (GRCm39) |
T289I |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,816,137 (GRCm39) |
I632V |
probably benign |
Het |
| Srl |
T |
C |
16: 4,315,546 (GRCm39) |
D32G |
probably damaging |
Het |
| Stxbp3-ps |
T |
A |
19: 9,535,256 (GRCm39) |
|
noncoding transcript |
Het |
| Sult1b1 |
T |
C |
5: 87,662,815 (GRCm39) |
D295G |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,504,937 (GRCm39) |
V151A |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,387,589 (GRCm39) |
L84P |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,285,447 (GRCm39) |
I89N |
probably damaging |
Het |
| Zcwpw1 |
G |
A |
5: 137,795,061 (GRCm39) |
A86T |
probably benign |
Het |
| Zkscan16 |
A |
G |
4: 58,956,690 (GRCm39) |
H324R |
possibly damaging |
Het |
|
| Other mutations in Pgm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation