Incidental Mutation 'R0038:Pgm3'
| ID |
32822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgm3
|
| Ensembl Gene |
ENSMUSG00000056131 |
| Gene Name |
phosphoglucomutase 3 |
| Synonyms |
Pgm-3, 2810473H05Rik, GlcNAc-P mutase |
| MMRRC Submission |
038332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0038 (G1)
|
| Quality Score |
190 |
|
Status
|
Validated
(trace)
|
| Chromosome |
9 |
| Chromosomal Location |
86436430-86453895 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 86446726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070064]
[ENSMUST00000072585]
|
| AlphaFold |
Q9CYR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070064
|
| SMART Domains |
Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
| 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
|
| SMART Domains |
Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (72/72) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,863,823 (GRCm39) |
|
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,429,992 (GRCm39) |
M892K |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,022,734 (GRCm39) |
|
probably benign |
Het |
| Arl9 |
G |
A |
5: 77,154,322 (GRCm39) |
E17K |
probably benign |
Het |
| Bbs9 |
G |
A |
9: 22,415,390 (GRCm39) |
V105I |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,813,620 (GRCm39) |
N1997K |
possibly damaging |
Het |
| Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
| Cldn8 |
A |
G |
16: 88,359,922 (GRCm39) |
M1T |
probably null |
Het |
| Clec11a |
A |
G |
7: 43,955,906 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,598,825 (GRCm39) |
L56Q |
unknown |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
G |
A |
7: 25,614,287 (GRCm39) |
A254T |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,127 (GRCm39) |
L305P |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,026,197 (GRCm39) |
E60G |
probably benign |
Het |
| Eif2ak2 |
T |
A |
17: 79,171,384 (GRCm39) |
M340L |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,748,385 (GRCm39) |
H39L |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,306 (GRCm39) |
T4549A |
probably damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,167,608 (GRCm39) |
W50R |
probably damaging |
Het |
| Ggt7 |
T |
C |
2: 155,344,701 (GRCm39) |
D214G |
probably benign |
Het |
| Gramd1b |
G |
A |
9: 40,228,822 (GRCm39) |
T252M |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,471 (GRCm39) |
N613S |
probably null |
Het |
| Hcrtr2 |
A |
T |
9: 76,166,963 (GRCm39) |
S125T |
probably benign |
Het |
| Hr |
T |
C |
14: 70,805,525 (GRCm39) |
L1091P |
probably damaging |
Het |
| Htr2a |
T |
G |
14: 74,943,687 (GRCm39) |
S422R |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,312,097 (GRCm39) |
S886P |
probably damaging |
Het |
| Iqcg |
C |
A |
16: 32,866,012 (GRCm39) |
L110F |
probably benign |
Het |
| Kirrel3 |
T |
A |
9: 34,823,066 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
A |
C |
11: 5,157,703 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
| Lin52 |
C |
G |
12: 84,576,499 (GRCm39) |
L111V |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 48,891,504 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,062,997 (GRCm39) |
S685P |
possibly damaging |
Het |
| Oog4 |
T |
C |
4: 143,165,514 (GRCm39) |
D211G |
probably benign |
Het |
| Oscar |
A |
G |
7: 3,619,072 (GRCm39) |
V2A |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,288,028 (GRCm39) |
I1124T |
possibly damaging |
Het |
| Pnpla5 |
A |
G |
15: 84,006,714 (GRCm39) |
Y90H |
probably damaging |
Het |
| Polr1b |
C |
T |
2: 128,957,588 (GRCm39) |
R548* |
probably null |
Het |
| Ptprg |
T |
A |
14: 12,213,710 (GRCm38) |
M1026K |
probably damaging |
Het |
| Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,976,703 (GRCm39) |
I1368V |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,117,813 (GRCm39) |
V458A |
probably benign |
Het |
| Rnf32 |
T |
C |
5: 29,410,652 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,583,943 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,216 (GRCm39) |
F139L |
probably damaging |
Het |
| Sos2 |
T |
G |
12: 69,643,467 (GRCm39) |
Q971P |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,299,298 (GRCm39) |
|
probably null |
Het |
| Stard5 |
T |
C |
7: 83,285,951 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,526,313 (GRCm39) |
C857S |
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,237,486 (GRCm39) |
E77G |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,637,388 (GRCm39) |
S204P |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,358,809 (GRCm39) |
G2112C |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,010 (GRCm39) |
T283S |
possibly damaging |
Het |
| Wdr6 |
A |
T |
9: 108,450,168 (GRCm39) |
V1120D |
probably damaging |
Het |
| Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGACAAGGCACCTGATTCTG -3'
(R):5'- TCGCACAGTGAAATGGCTCTAACAG -3'
Sequencing Primer
(F):5'- AGCTCTCAGTCTAAAGTGCTC -3'
(R):5'- catgcatCCACTTTGGTGAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation