Incidental Mutation 'R6311:Pgm1'
| ID |
509766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgm1
|
| Ensembl Gene |
ENSMUSG00000025791 |
| Gene Name |
phosphoglucomutase 1 |
| Synonyms |
Pgm1a, Pgm2, 2610020G18Rik, Pgm-2 |
| MMRRC Submission |
044469-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.652)
|
| Stock # |
R6311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99786648-99844491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99827237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 379
(F379S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058351]
[ENSMUST00000102783]
|
| AlphaFold |
Q9D0F9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058351
AA Change: F361S
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000061227
Gene: ENSMUSG00000025791
AA Change: F361S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGM_PMM_I
|
14 |
158 |
1.7e-42 |
PFAM |
|
Pfam:PGM_PMM_II
|
193 |
301 |
3.3e-20 |
PFAM |
|
Pfam:PGM_PMM_III
|
306 |
420 |
1.1e-33 |
PFAM |
|
Pfam:PGM_PMM_IV
|
436 |
543 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102783
AA Change: F379S
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099844
Gene: ENSMUSG00000025791
AA Change: F379S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGM_PMM_I
|
32 |
176 |
2.3e-37 |
PFAM |
|
Pfam:PGM_PMM_II
|
211 |
319 |
1.2e-19 |
PFAM |
|
Pfam:PGM_PMM_III
|
324 |
438 |
3.7e-33 |
PFAM |
|
Pfam:PGM_PMM_IV
|
455 |
561 |
3.6e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.8728 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
G |
13: 68,773,911 (GRCm39) |
I1044T |
probably damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,763,062 (GRCm39) |
F773V |
unknown |
Het |
| B4galnt4 |
A |
G |
7: 140,648,572 (GRCm39) |
N696S |
probably damaging |
Het |
| Cdh16 |
T |
A |
8: 105,341,065 (GRCm39) |
D786V |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 100,127,527 (GRCm39) |
Y28C |
probably damaging |
Het |
| Cgn |
C |
T |
3: 94,685,486 (GRCm39) |
|
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,907,128 (GRCm39) |
V174A |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,672,174 (GRCm39) |
N256I |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,339,836 (GRCm39) |
W698* |
probably null |
Het |
| Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
| Dnmt3b |
G |
T |
2: 153,515,925 (GRCm39) |
G444V |
probably damaging |
Het |
| Ermn |
A |
G |
2: 57,941,771 (GRCm39) |
F109S |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,524,895 (GRCm39) |
A190T |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,067,804 (GRCm39) |
W556R |
probably damaging |
Het |
| Fut2 |
T |
A |
7: 45,299,804 (GRCm39) |
I323F |
possibly damaging |
Het |
| Grik2 |
T |
G |
10: 49,454,234 (GRCm39) |
K94Q |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,537,406 (GRCm39) |
R37G |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,648,816 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
A |
T |
10: 103,009,254 (GRCm39) |
D1076E |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,922,765 (GRCm39) |
I590N |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,500,176 (GRCm39) |
L940P |
possibly damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,629,083 (GRCm39) |
I257V |
possibly damaging |
Het |
| Or5b100-ps1 |
T |
A |
19: 12,993,935 (GRCm39) |
M116K |
probably damaging |
Het |
| Or6c216 |
A |
G |
10: 129,678,776 (GRCm39) |
L45P |
possibly damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,316 (GRCm39) |
|
probably null |
Het |
| Pdcl3 |
A |
G |
1: 39,026,925 (GRCm39) |
M1V |
probably null |
Het |
| Pdzd2 |
T |
A |
15: 12,458,274 (GRCm39) |
E196D |
probably damaging |
Het |
| Pgm2 |
G |
A |
5: 64,273,758 (GRCm39) |
C581Y |
probably benign |
Het |
| Plbd1 |
T |
A |
6: 136,590,945 (GRCm39) |
H407L |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,544,321 (GRCm39) |
Y308C |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,600,255 (GRCm39) |
E893G |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 23,999,005 (GRCm39) |
T133A |
probably benign |
Het |
| Slc9a8 |
T |
A |
2: 167,293,140 (GRCm39) |
S163T |
probably damaging |
Het |
| Sult2a3 |
T |
C |
7: 13,845,482 (GRCm39) |
I126V |
probably benign |
Het |
| Tlr1 |
C |
T |
5: 65,084,188 (GRCm39) |
D130N |
probably damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,361,604 (GRCm39) |
K127* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
|
| Other mutations in Pgm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Pgm1
|
APN |
4 |
99,786,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Pgm1
|
APN |
4 |
99,819,367 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02013:Pgm1
|
APN |
4 |
99,841,158 (GRCm39) |
splice site |
probably benign |
|
|
IGL02237:Pgm1
|
APN |
4 |
99,820,707 (GRCm39) |
splice site |
probably benign |
|
|
IGL02945:Pgm1
|
APN |
4 |
99,818,731 (GRCm39) |
missense |
probably benign |
|
|
IGL03201:Pgm1
|
APN |
4 |
99,827,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03373:Pgm1
|
APN |
4 |
99,818,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Pgm1
|
UTSW |
4 |
99,820,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Pgm1
|
UTSW |
4 |
99,818,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1650:Pgm1
|
UTSW |
4 |
99,819,276 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1650:Pgm1
|
UTSW |
4 |
99,819,267 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1741:Pgm1
|
UTSW |
4 |
99,822,062 (GRCm39) |
splice site |
probably null |
|
|
R1759:Pgm1
|
UTSW |
4 |
99,824,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Pgm1
|
UTSW |
4 |
99,818,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3111:Pgm1
|
UTSW |
4 |
99,813,222 (GRCm39) |
missense |
probably benign |
|
|
R4115:Pgm1
|
UTSW |
4 |
99,819,348 (GRCm39) |
nonsense |
probably null |
|
|
R4426:Pgm1
|
UTSW |
4 |
99,819,337 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4748:Pgm1
|
UTSW |
4 |
99,839,176 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4910:Pgm1
|
UTSW |
4 |
99,820,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4920:Pgm1
|
UTSW |
4 |
99,843,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Pgm1
|
UTSW |
4 |
99,824,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5764:Pgm1
|
UTSW |
4 |
99,822,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6199:Pgm1
|
UTSW |
4 |
99,836,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6600:Pgm1
|
UTSW |
4 |
99,824,259 (GRCm39) |
nonsense |
probably null |
|
|
R6818:Pgm1
|
UTSW |
4 |
99,820,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6892:Pgm1
|
UTSW |
4 |
99,786,905 (GRCm39) |
missense |
probably benign |
|
|
R6984:Pgm1
|
UTSW |
4 |
99,786,851 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7429:Pgm1
|
UTSW |
4 |
99,813,192 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7430:Pgm1
|
UTSW |
4 |
99,813,192 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8017:Pgm1
|
UTSW |
4 |
99,843,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8019:Pgm1
|
UTSW |
4 |
99,843,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8143:Pgm1
|
UTSW |
4 |
99,824,415 (GRCm39) |
splice site |
probably null |
|
|
R8724:Pgm1
|
UTSW |
4 |
99,786,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8893:Pgm1
|
UTSW |
4 |
99,824,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9062:Pgm1
|
UTSW |
4 |
99,843,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Pgm1
|
UTSW |
4 |
99,827,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Pgm1
|
UTSW |
4 |
99,841,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Pgm1
|
UTSW |
4 |
99,843,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Pgm1
|
UTSW |
4 |
99,843,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF018:Pgm1
|
UTSW |
4 |
99,819,500 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Pgm1
|
UTSW |
4 |
99,836,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAGAACCCCTTGTGTCC -3'
(R):5'- TGTCTTGATTTAGGGCTCATCAGC -3'
Sequencing Primer
(F):5'- GAAGAACCCCTTGTGTCCAAGTTTC -3'
(R):5'- TGTTAGCATGAGTGCCAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation