Incidental Mutation 'IGL02513:Pgm2'
| ID |
296653 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pgm2
|
| Ensembl Gene |
ENSMUSG00000029171 |
| Gene Name |
phosphoglucomutase 2 |
| Synonyms |
Pgm-1, 3230402E02Rik, Pgm1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02513
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
64250293-64285694 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 64260289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087324]
|
| AlphaFold |
Q7TSV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087324
|
| SMART Domains |
Protein: ENSMUSP00000084582
Gene: ENSMUSG00000029171
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:PGM_PMM_I
|
62 |
211 |
7.8e-37 |
PFAM |
|
Pfam:PGM_PMM_II
|
235 |
344 |
1.9e-25 |
PFAM |
|
Pfam:PGM_PMM_III
|
351 |
480 |
4.6e-15 |
PFAM |
|
Pfam:PGM_PMM_IV
|
523 |
603 |
5.5e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199093
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Four electrophoretic variants are known, each with a 5-band pattern: the a allele in C57BL/6, BALB/c and AKR; b allele in DBA/2 and SJL; c allele in C3H/He; and d allele in 129/Re. Heterozygotes show a mixture of bands. Mice homozygous for a spontaneous null allele or ENU induced alleles are viable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
G |
T |
12: 8,042,979 (GRCm39) |
V787F |
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,786,451 (GRCm39) |
I268V |
probably benign |
Het |
| Atg14 |
T |
A |
14: 47,783,081 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
T |
9: 53,408,562 (GRCm39) |
|
probably benign |
Het |
| Ccdc9 |
A |
G |
7: 16,018,434 (GRCm39) |
|
probably benign |
Het |
| Cers6 |
T |
C |
2: 68,899,013 (GRCm39) |
F217S |
probably benign |
Het |
| Crebbp |
A |
C |
16: 3,944,469 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,049,869 (GRCm39) |
|
probably benign |
Het |
| Dmac2l |
A |
T |
12: 69,787,819 (GRCm39) |
Y85F |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,496,571 (GRCm39) |
V609E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,636 (GRCm39) |
S204P |
probably damaging |
Het |
| Gpr152 |
A |
G |
19: 4,192,843 (GRCm39) |
D128G |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,927,844 (GRCm39) |
V1013D |
possibly damaging |
Het |
| Kctd18 |
A |
G |
1: 58,004,559 (GRCm39) |
Y112H |
probably damaging |
Het |
| Kdm4d |
T |
A |
9: 14,375,850 (GRCm39) |
T3S |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,000,765 (GRCm39) |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,723,360 (GRCm39) |
D484E |
possibly damaging |
Het |
| Nalf1 |
T |
A |
8: 9,257,930 (GRCm39) |
D406V |
probably benign |
Het |
| Nat14 |
T |
C |
7: 4,927,050 (GRCm39) |
V74A |
possibly damaging |
Het |
| Or2b6 |
A |
G |
13: 21,823,510 (GRCm39) |
F61S |
probably damaging |
Het |
| Pabpc2 |
C |
T |
18: 39,908,193 (GRCm39) |
T486I |
probably benign |
Het |
| Pkn3 |
T |
A |
2: 29,973,149 (GRCm39) |
I353N |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,083,260 (GRCm39) |
S594R |
possibly damaging |
Het |
| Rrbp1 |
C |
T |
2: 143,830,350 (GRCm39) |
A606T |
possibly damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,850 (GRCm39) |
V623A |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,577,123 (GRCm39) |
E1482G |
probably benign |
Het |
| Uba1 |
A |
G |
X: 20,541,885 (GRCm39) |
T546A |
probably benign |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,934 (GRCm39) |
K310E |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,569,126 (GRCm39) |
W653R |
probably damaging |
Het |
| Zdhhc19 |
A |
T |
16: 32,318,440 (GRCm39) |
I99F |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,239 (GRCm39) |
Y974C |
probably damaging |
Het |
|
| Other mutations in Pgm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Pgm2
|
APN |
5 |
64,265,612 (GRCm39) |
splice site |
probably benign |
|
|
IGL01068:Pgm2
|
APN |
5 |
64,265,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01112:Pgm2
|
APN |
5 |
64,260,225 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01634:Pgm2
|
APN |
5 |
64,258,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0255:Pgm2
|
UTSW |
5 |
64,269,386 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0268:Pgm2
|
UTSW |
5 |
64,263,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Pgm2
|
UTSW |
5 |
64,267,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0722:Pgm2
|
UTSW |
5 |
64,265,022 (GRCm39) |
nonsense |
probably null |
|
|
R0881:Pgm2
|
UTSW |
5 |
64,250,351 (GRCm39) |
missense |
unknown |
|
|
R0924:Pgm2
|
UTSW |
5 |
64,269,490 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0930:Pgm2
|
UTSW |
5 |
64,269,490 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1773:Pgm2
|
UTSW |
5 |
64,265,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1777:Pgm2
|
UTSW |
5 |
64,285,125 (GRCm39) |
missense |
probably benign |
|
|
R2137:Pgm2
|
UTSW |
5 |
64,273,709 (GRCm39) |
missense |
probably benign |
|
|
R2244:Pgm2
|
UTSW |
5 |
64,264,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3946:Pgm2
|
UTSW |
5 |
64,269,404 (GRCm39) |
missense |
probably benign |
|
|
R4301:Pgm2
|
UTSW |
5 |
64,261,140 (GRCm39) |
nonsense |
probably null |
|
|
R4601:Pgm2
|
UTSW |
5 |
64,265,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4631:Pgm2
|
UTSW |
5 |
64,263,290 (GRCm39) |
splice site |
probably null |
|
|
R4795:Pgm2
|
UTSW |
5 |
64,261,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Pgm2
|
UTSW |
5 |
64,261,237 (GRCm39) |
missense |
probably benign |
|
|
R4893:Pgm2
|
UTSW |
5 |
64,263,283 (GRCm39) |
missense |
probably benign |
|
|
R4907:Pgm2
|
UTSW |
5 |
64,261,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4915:Pgm2
|
UTSW |
5 |
64,258,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Pgm2
|
UTSW |
5 |
64,265,092 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5197:Pgm2
|
UTSW |
5 |
64,263,175 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5621:Pgm2
|
UTSW |
5 |
64,269,381 (GRCm39) |
nonsense |
probably null |
|
|
R6311:Pgm2
|
UTSW |
5 |
64,273,758 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6651:Pgm2
|
UTSW |
5 |
64,269,437 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6731:Pgm2
|
UTSW |
5 |
64,258,318 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6885:Pgm2
|
UTSW |
5 |
64,261,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6919:Pgm2
|
UTSW |
5 |
64,254,368 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7211:Pgm2
|
UTSW |
5 |
64,263,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7631:Pgm2
|
UTSW |
5 |
64,265,522 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7982:Pgm2
|
UTSW |
5 |
64,258,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Pgm2
|
UTSW |
5 |
64,269,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8161:Pgm2
|
UTSW |
5 |
64,269,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Pgm2
|
UTSW |
5 |
64,269,467 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9110:Pgm2
|
UTSW |
5 |
64,261,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9333:Pgm2
|
UTSW |
5 |
64,263,100 (GRCm39) |
missense |
probably benign |
|
|
R9580:Pgm2
|
UTSW |
5 |
64,265,092 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9673:Pgm2
|
UTSW |
5 |
64,273,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9681:Pgm2
|
UTSW |
5 |
64,254,391 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation