Incidental Mutation 'R5870:Pgm3'
| ID |
455135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgm3
|
| Ensembl Gene |
ENSMUSG00000056131 |
| Gene Name |
phosphoglucomutase 3 |
| Synonyms |
Pgm-3, 2810473H05Rik, GlcNAc-P mutase |
| MMRRC Submission |
044078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R5870 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
86436430-86453895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86452414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 15
(K15N)
|
| 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: K15N
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: K15N
| 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: K15N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: K15N
| 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 |
0.4075 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
93% (84/90) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,236,232 (GRCm39) |
V156A |
probably damaging |
Het |
| Ak6 |
C |
A |
13: 100,791,932 (GRCm39) |
P125Q |
probably damaging |
Het |
| Aqp4 |
A |
C |
18: 15,532,946 (GRCm39) |
V49G |
probably damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,251,163 (GRCm39) |
I874T |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,408,387 (GRCm39) |
D2040G |
unknown |
Het |
| Atp1a3 |
T |
G |
7: 24,697,003 (GRCm39) |
D220A |
probably benign |
Het |
| C2cd4c |
A |
T |
10: 79,448,043 (GRCm39) |
I368N |
possibly damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,394 (GRCm39) |
Q625* |
probably null |
Het |
| Cd177 |
T |
A |
7: 24,455,757 (GRCm39) |
H255L |
probably benign |
Het |
| Cdipt |
G |
A |
7: 126,578,094 (GRCm39) |
V114M |
probably benign |
Het |
| Coro1b |
T |
A |
19: 4,199,384 (GRCm39) |
H14Q |
probably damaging |
Het |
| Ctdp1 |
T |
A |
18: 80,451,901 (GRCm39) |
D158V |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,503,545 (GRCm39) |
S140T |
probably damaging |
Het |
| Dlgap3 |
T |
A |
4: 127,089,502 (GRCm39) |
L366* |
probably null |
Het |
| Dnah9 |
C |
T |
11: 65,976,036 (GRCm39) |
A1338T |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,952,199 (GRCm39) |
I424V |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,109,490 (GRCm39) |
A891S |
probably benign |
Het |
| Dync2i1 |
A |
G |
12: 116,219,865 (GRCm39) |
S26P |
possibly damaging |
Het |
| Elmod3 |
A |
G |
6: 72,571,721 (GRCm39) |
|
probably null |
Het |
| Eps15 |
G |
A |
4: 109,218,507 (GRCm39) |
E107K |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,593,744 (GRCm39) |
|
probably null |
Het |
| Fuz |
A |
G |
7: 44,549,742 (GRCm39) |
T407A |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,424,197 (GRCm39) |
F27I |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,754,344 (GRCm39) |
Y182C |
probably damaging |
Het |
| Gm37240 |
A |
T |
3: 84,597,828 (GRCm39) |
|
probably benign |
Het |
| Gm37610 |
A |
G |
6: 41,061,848 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6658 |
G |
T |
8: 91,635,020 (GRCm39) |
|
probably benign |
Het |
| Gm9376 |
A |
G |
14: 118,504,789 (GRCm39) |
T74A |
possibly damaging |
Het |
| Hadha |
G |
A |
5: 30,349,284 (GRCm39) |
S109F |
possibly damaging |
Het |
| Herc3 |
A |
T |
6: 58,893,435 (GRCm39) |
Q899L |
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,434,284 (GRCm39) |
E485K |
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,285,725 (GRCm39) |
K650R |
possibly damaging |
Het |
| Ly6d |
A |
T |
15: 74,635,381 (GRCm39) |
V10D |
possibly damaging |
Het |
| Med27 |
A |
G |
2: 29,279,823 (GRCm39) |
|
probably null |
Het |
| Med29 |
A |
T |
7: 28,091,922 (GRCm39) |
V56E |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,996,919 (GRCm39) |
K17E |
probably damaging |
Het |
| Mrpl37 |
G |
A |
4: 106,923,919 (GRCm39) |
T25I |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,092,805 (GRCm39) |
D33G |
possibly damaging |
Het |
| Nrg3 |
T |
A |
14: 39,194,586 (GRCm39) |
I58F |
possibly damaging |
Het |
| Or52e2 |
A |
G |
7: 102,804,948 (GRCm39) |
I2T |
probably benign |
Het |
| Or7e176 |
A |
G |
9: 20,171,874 (GRCm39) |
D246G |
probably benign |
Het |
| Padi1 |
T |
A |
4: 140,553,892 (GRCm39) |
D359V |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,877,753 (GRCm39) |
V436A |
possibly damaging |
Het |
| Phip |
A |
T |
9: 82,790,730 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
G |
A |
6: 25,778,950 (GRCm39) |
T48I |
possibly damaging |
Het |
| Ppic |
T |
C |
18: 53,542,333 (GRCm39) |
K125R |
probably benign |
Het |
| Ppm1j |
T |
C |
3: 104,692,811 (GRCm39) |
V440A |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,300 (GRCm39) |
K458* |
probably null |
Het |
| Rd3 |
A |
T |
1: 191,717,261 (GRCm39) |
M244L |
probably benign |
Het |
| Rflnb |
A |
G |
11: 75,912,864 (GRCm39) |
Y175H |
probably benign |
Het |
| Rnf157 |
T |
A |
11: 116,237,900 (GRCm39) |
S574C |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,110,653 (GRCm39) |
|
probably null |
Het |
| Senp3 |
C |
T |
11: 69,569,048 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
G |
A |
2: 130,914,767 (GRCm39) |
R1450C |
probably damaging |
Het |
| Sim2 |
A |
G |
16: 93,924,193 (GRCm39) |
H446R |
probably damaging |
Het |
| Spon1 |
T |
C |
7: 113,631,021 (GRCm39) |
I444T |
probably damaging |
Het |
| Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
| Stxbp4 |
A |
T |
11: 90,428,782 (GRCm39) |
I441N |
possibly damaging |
Het |
| Sugt1 |
G |
A |
14: 79,846,451 (GRCm39) |
V163I |
probably benign |
Het |
| Surf1 |
G |
T |
2: 26,806,271 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,088,128 (GRCm39) |
E1348G |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,619,111 (GRCm39) |
V349D |
probably damaging |
Het |
| Ten1 |
A |
G |
11: 116,105,751 (GRCm39) |
R112G |
possibly damaging |
Het |
| Tm9sf4 |
A |
G |
2: 153,036,201 (GRCm39) |
D321G |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,461,237 (GRCm39) |
M594K |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,703,058 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
C |
T |
9: 48,937,285 (GRCm39) |
Q185* |
probably null |
Het |
| Vmn2r112 |
A |
G |
17: 22,838,004 (GRCm39) |
I822V |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,382,682 (GRCm39) |
L88* |
probably null |
Het |
| Zfr |
T |
A |
15: 12,160,701 (GRCm39) |
V758D |
probably damaging |
Het |
| Zfyve27 |
T |
G |
19: 42,160,110 (GRCm39) |
L42R |
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 |
|
|
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 |
|
|
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'- GTGTGGACTTCAGTTCAAGATTCTTAG -3'
(R):5'- TCCCTGCCTTCCCAAAAGTG -3'
Sequencing Primer
(F):5'- GTCTTGTAAATAAAGACAGCACCTTG -3'
(R):5'- CCCAAAAGTGGTTCTCTGGAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation