Incidental Mutation 'R4990:Pgm3'
ID |
386135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pgm3
|
Ensembl Gene |
ENSMUSG00000056131 |
Gene Name |
phosphoglucomutase 3 |
Synonyms |
Pgm-3, 2810473H05Rik, GlcNAc-P mutase |
MMRRC Submission |
042584-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R4990 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
86436430-86453895 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 86440465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 409
(I409F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034987]
[ENSMUST00000070064]
[ENSMUST00000072585]
[ENSMUST00000185919]
[ENSMUST00000190957]
[ENSMUST00000189817]
|
AlphaFold |
Q9CYR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034987
|
SMART Domains |
Protein: ENSMUSP00000034987 Gene: ENSMUSG00000034973
Domain | Start | End | E-Value | Type |
Pfam:Dopey_N
|
11 |
300 |
1e-117 |
PFAM |
low complexity region
|
631 |
649 |
N/A |
INTRINSIC |
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
low complexity region
|
1073 |
1084 |
N/A |
INTRINSIC |
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1281 |
N/A |
INTRINSIC |
low complexity region
|
1296 |
1318 |
N/A |
INTRINSIC |
low complexity region
|
1335 |
1344 |
N/A |
INTRINSIC |
low complexity region
|
1362 |
1373 |
N/A |
INTRINSIC |
low complexity region
|
1575 |
1589 |
N/A |
INTRINSIC |
low complexity region
|
2217 |
2227 |
N/A |
INTRINSIC |
low complexity region
|
2351 |
2362 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070064
AA Change: I409F
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000070871 Gene: ENSMUSG00000056131 AA Change: I409F
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: I409F
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000072390 Gene: ENSMUSG00000056131 AA Change: I409F
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: ENSMUST00000185919
|
SMART Domains |
Protein: ENSMUSP00000140040 Gene: ENSMUSG00000034973
Domain | Start | End | E-Value | Type |
Pfam:Dopey_N
|
10 |
306 |
1.9e-106 |
PFAM |
low complexity region
|
629 |
647 |
N/A |
INTRINSIC |
low complexity region
|
959 |
971 |
N/A |
INTRINSIC |
low complexity region
|
1071 |
1082 |
N/A |
INTRINSIC |
low complexity region
|
1103 |
1116 |
N/A |
INTRINSIC |
low complexity region
|
1266 |
1279 |
N/A |
INTRINSIC |
low complexity region
|
1294 |
1316 |
N/A |
INTRINSIC |
low complexity region
|
1333 |
1342 |
N/A |
INTRINSIC |
low complexity region
|
1360 |
1371 |
N/A |
INTRINSIC |
low complexity region
|
1573 |
1587 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186193
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187251
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189564
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190924
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190957
|
SMART Domains |
Protein: ENSMUSP00000140740 Gene: ENSMUSG00000034973
Domain | Start | End | E-Value | Type |
Pfam:Dopey_N
|
10 |
305 |
1.3e-108 |
PFAM |
low complexity region
|
631 |
649 |
N/A |
INTRINSIC |
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
low complexity region
|
1073 |
1084 |
N/A |
INTRINSIC |
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1281 |
N/A |
INTRINSIC |
low complexity region
|
1296 |
1318 |
N/A |
INTRINSIC |
low complexity region
|
1335 |
1344 |
N/A |
INTRINSIC |
low complexity region
|
1362 |
1373 |
N/A |
INTRINSIC |
low complexity region
|
1575 |
1589 |
N/A |
INTRINSIC |
low complexity region
|
2217 |
2227 |
N/A |
INTRINSIC |
low complexity region
|
2351 |
2362 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189817
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,334,098 (GRCm39) |
I1135V |
possibly damaging |
Het |
Abca14 |
G |
A |
7: 119,911,388 (GRCm39) |
R1324K |
probably benign |
Het |
Amer3 |
A |
C |
1: 34,627,822 (GRCm39) |
D687A |
probably benign |
Het |
Aplnr |
G |
A |
2: 84,967,721 (GRCm39) |
V249M |
probably damaging |
Het |
Atg16l1 |
A |
G |
1: 87,717,091 (GRCm39) |
K471R |
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,568,886 (GRCm39) |
|
probably null |
Het |
Catspere2 |
A |
C |
1: 177,925,987 (GRCm39) |
I218L |
probably benign |
Het |
Ccdc152 |
A |
G |
15: 3,330,639 (GRCm39) |
I12T |
probably benign |
Het |
Cds1 |
A |
G |
5: 101,946,245 (GRCm39) |
Y148C |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,962,401 (GRCm39) |
L1989Q |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,243,434 (GRCm39) |
Q1674R |
probably damaging |
Het |
D930020B18Rik |
C |
G |
10: 121,490,666 (GRCm39) |
P89A |
probably damaging |
Het |
D930020B18Rik |
C |
T |
10: 121,490,667 (GRCm39) |
P89L |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,586,078 (GRCm39) |
M535V |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,626,715 (GRCm39) |
V398A |
probably benign |
Het |
Elmo1 |
T |
C |
13: 20,526,689 (GRCm39) |
F413S |
probably damaging |
Het |
Emb |
T |
A |
13: 117,401,046 (GRCm39) |
N198K |
probably damaging |
Het |
Eno3 |
A |
G |
11: 70,549,473 (GRCm39) |
D98G |
probably damaging |
Het |
Fbp1 |
C |
T |
13: 63,012,888 (GRCm39) |
V102I |
probably benign |
Het |
Fbxw18 |
T |
C |
9: 109,517,461 (GRCm39) |
E414G |
probably damaging |
Het |
Grem2 |
A |
G |
1: 174,664,379 (GRCm39) |
C157R |
probably damaging |
Het |
Hnrnpr |
G |
A |
4: 136,063,609 (GRCm39) |
V239I |
probably damaging |
Het |
Hnrnpr |
A |
G |
4: 136,056,690 (GRCm39) |
E230G |
probably damaging |
Het |
Ipo11 |
A |
T |
13: 106,997,395 (GRCm39) |
I688K |
probably benign |
Het |
Irx4 |
G |
T |
13: 73,413,626 (GRCm39) |
R32L |
probably benign |
Het |
Kcnh7 |
T |
C |
2: 62,564,632 (GRCm39) |
N876D |
probably benign |
Het |
Klk1b26 |
T |
A |
7: 43,665,673 (GRCm39) |
|
probably null |
Het |
Lrp2 |
G |
T |
2: 69,311,732 (GRCm39) |
T2582K |
probably benign |
Het |
Lrriq1 |
A |
G |
10: 103,036,420 (GRCm39) |
I911T |
probably damaging |
Het |
Megf6 |
A |
G |
4: 154,351,683 (GRCm39) |
E1132G |
possibly damaging |
Het |
Mesp1 |
A |
G |
7: 79,442,669 (GRCm39) |
Y203H |
probably damaging |
Het |
Ms4a4a |
T |
C |
19: 11,356,201 (GRCm39) |
S29P |
probably benign |
Het |
Nbeal2 |
A |
C |
9: 110,463,871 (GRCm39) |
C1174G |
probably benign |
Het |
Neb |
C |
T |
2: 52,145,558 (GRCm39) |
V2989I |
probably benign |
Het |
Nkx2-1 |
T |
C |
12: 56,581,724 (GRCm39) |
Y41C |
possibly damaging |
Het |
Nrxn3 |
T |
A |
12: 89,227,244 (GRCm39) |
I293N |
probably damaging |
Het |
Nt5e |
A |
G |
9: 88,237,646 (GRCm39) |
N192S |
probably benign |
Het |
Ntng1 |
A |
T |
3: 110,042,577 (GRCm39) |
|
probably null |
Het |
Or13a17 |
G |
A |
7: 140,271,360 (GRCm39) |
E181K |
probably damaging |
Het |
Or3a1d |
A |
G |
11: 74,238,023 (GRCm39) |
I129T |
probably damaging |
Het |
Or4c110 |
A |
T |
2: 88,831,816 (GRCm39) |
I272K |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,113,671 (GRCm39) |
|
probably null |
Het |
Panx1 |
A |
G |
9: 14,921,513 (GRCm39) |
Y121H |
probably damaging |
Het |
Pcsk4 |
A |
G |
10: 80,161,215 (GRCm39) |
I233T |
possibly damaging |
Het |
Plg |
T |
C |
17: 12,630,397 (GRCm39) |
Y645H |
probably benign |
Het |
Pon3 |
T |
C |
6: 5,221,619 (GRCm39) |
H337R |
probably benign |
Het |
Rasa2 |
A |
G |
9: 96,474,042 (GRCm39) |
I162T |
probably benign |
Het |
Ror1 |
A |
G |
4: 100,299,161 (GRCm39) |
I845V |
probably benign |
Het |
Rpl4 |
T |
C |
9: 64,082,167 (GRCm39) |
V22A |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,740,318 (GRCm39) |
N531S |
probably damaging |
Het |
Ryr3 |
G |
T |
2: 112,466,122 (GRCm39) |
Q4746K |
probably damaging |
Het |
Sbno1 |
A |
T |
5: 124,538,228 (GRCm39) |
F571I |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,416,841 (GRCm39) |
V761A |
probably benign |
Het |
Sec22b |
T |
G |
3: 97,828,427 (GRCm39) |
|
probably null |
Het |
Slc45a2 |
A |
G |
15: 11,001,236 (GRCm39) |
M112V |
probably benign |
Het |
Snai3 |
G |
A |
8: 123,183,071 (GRCm39) |
T158M |
possibly damaging |
Het |
Spata31d1a |
T |
C |
13: 59,850,965 (GRCm39) |
N388D |
probably benign |
Het |
Speer1e |
A |
T |
5: 11,236,381 (GRCm39) |
E138V |
probably damaging |
Het |
Sv2b |
T |
C |
7: 74,767,470 (GRCm39) |
N642S |
possibly damaging |
Het |
Svil |
T |
A |
18: 5,056,810 (GRCm39) |
I561K |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,943,930 (GRCm39) |
D1127E |
probably benign |
Het |
Triobp |
C |
A |
15: 78,851,205 (GRCm39) |
A453D |
probably benign |
Het |
Tubd1 |
T |
C |
11: 86,448,665 (GRCm39) |
L295P |
probably damaging |
Het |
Ulk4 |
C |
T |
9: 121,021,852 (GRCm39) |
V620I |
probably benign |
Het |
Vmn2r39 |
A |
G |
7: 9,026,675 (GRCm39) |
I442T |
probably benign |
Het |
Wwc1 |
T |
C |
11: 35,767,393 (GRCm39) |
T413A |
probably benign |
Het |
Zfp131 |
A |
C |
13: 120,244,449 (GRCm39) |
V77G |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,334,607 (GRCm39) |
D137G |
probably damaging |
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 |
|
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'- GACGTTGCTCTTCCATTGAC -3'
(R):5'- TTGTTGGCAGACATAAGGGTAC -3'
Sequencing Primer
(F):5'- TGTACCTTGCTCAAACATGTAAATG -3'
(R):5'- ACCATTATCTTTACTTCAGTTTCTCC -3'
|
Posted On |
2016-05-10 |