Incidental Mutation 'R5414:Pgm5'
| ID |
427664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgm5
|
| Ensembl Gene |
ENSMUSG00000041731 |
| Gene Name |
phosphoglucomutase 5 |
| Synonyms |
9530034F03Rik, aciculin |
| MMRRC Submission |
042983-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R5414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
24660380-24839219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24686689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 506
(I506T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047666]
|
| AlphaFold |
Q8BZF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047666
AA Change: I506T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: I506T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGM_PMM_I
|
19 |
163 |
3.9e-31 |
PFAM |
|
Pfam:PGM_PMM_II
|
198 |
306 |
1.8e-15 |
PFAM |
|
Pfam:PGM_PMM_III
|
311 |
425 |
6.9e-31 |
PFAM |
|
SCOP:d3pmga4
|
427 |
567 |
5e-74 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133692
|
| Meta Mutation Damage Score |
0.4289 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,205,448 (GRCm39) |
S278P |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,750,736 (GRCm39) |
T1836A |
probably benign |
Het |
| Akr1c18 |
T |
A |
13: 4,186,734 (GRCm39) |
D238V |
probably damaging |
Het |
| Akt3 |
A |
G |
1: 176,877,817 (GRCm39) |
V317A |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,819,102 (GRCm39) |
P64S |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,752,757 (GRCm39) |
N609S |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,961,173 (GRCm39) |
|
probably null |
Het |
| C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
| Cd34 |
A |
G |
1: 194,630,219 (GRCm39) |
E51G |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,717,241 (GRCm39) |
E2161G |
possibly damaging |
Het |
| Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
| Cnih1 |
T |
C |
14: 47,016,440 (GRCm39) |
T105A |
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,986,607 (GRCm39) |
I279T |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,455,763 (GRCm39) |
T721A |
probably benign |
Het |
| Fbn2 |
C |
A |
18: 58,226,477 (GRCm39) |
A766S |
probably damaging |
Het |
| Focad |
C |
T |
4: 88,328,939 (GRCm39) |
|
probably benign |
Het |
| Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,304,852 (GRCm39) |
L96P |
probably damaging |
Het |
| Gm10192 |
T |
C |
4: 97,071,346 (GRCm39) |
S20G |
probably null |
Het |
| Gm10288 |
T |
C |
3: 146,544,717 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4181 |
C |
T |
14: 51,873,047 (GRCm39) |
|
probably null |
Het |
| Gm6327 |
T |
A |
16: 12,578,222 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
A |
G |
5: 107,049,942 (GRCm39) |
I409T |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,571,324 (GRCm39) |
I378F |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
| Krt33b |
T |
C |
11: 99,920,612 (GRCm39) |
T14A |
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,806,335 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,543,697 (GRCm39) |
L226H |
probably damaging |
Het |
| Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nploc4 |
A |
T |
11: 120,304,469 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or4b12 |
T |
C |
2: 90,096,046 (GRCm39) |
T243A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,485,499 (GRCm39) |
I397V |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Pgs1 |
T |
G |
11: 117,905,502 (GRCm39) |
I499S |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,557,330 (GRCm39) |
S253P |
probably damaging |
Het |
| Prag1 |
C |
G |
8: 36,606,776 (GRCm39) |
P839R |
probably benign |
Het |
| Rin3 |
C |
T |
12: 102,356,116 (GRCm39) |
Q806* |
probably null |
Het |
| Ros1 |
T |
C |
10: 52,031,189 (GRCm39) |
D484G |
probably damaging |
Het |
| Scamp5 |
A |
G |
9: 57,354,507 (GRCm39) |
V49A |
probably benign |
Het |
| Sis |
C |
A |
3: 72,859,826 (GRCm39) |
V310L |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,206,322 (GRCm39) |
T19A |
possibly damaging |
Het |
| Tcstv2b |
A |
C |
13: 120,373,872 (GRCm39) |
D139E |
probably damaging |
Het |
| Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,651,783 (GRCm39) |
I102V |
probably benign |
Het |
| Trim30a |
A |
C |
7: 104,060,348 (GRCm39) |
V476G |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,978 (GRCm39) |
R718* |
probably null |
Het |
| Washc4 |
A |
G |
10: 83,391,967 (GRCm39) |
T218A |
possibly damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,269,643 (GRCm39) |
Y401C |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,454 (GRCm39) |
T452A |
probably damaging |
Het |
|
| Other mutations in Pgm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Pgm5
|
APN |
19 |
24,812,130 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01318:Pgm5
|
APN |
19 |
24,793,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01372:Pgm5
|
APN |
19 |
24,710,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01541:Pgm5
|
APN |
19 |
24,793,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01648:Pgm5
|
APN |
19 |
24,801,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02049:Pgm5
|
APN |
19 |
24,801,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02827:Pgm5
|
APN |
19 |
24,686,659 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02975:Pgm5
|
APN |
19 |
24,812,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
3-1:Pgm5
|
UTSW |
19 |
24,705,152 (GRCm39) |
missense |
probably benign |
0.02 |
|
P0047:Pgm5
|
UTSW |
19 |
24,793,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:Pgm5
|
UTSW |
19 |
24,801,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Pgm5
|
UTSW |
19 |
24,710,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0047:Pgm5
|
UTSW |
19 |
24,661,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0180:Pgm5
|
UTSW |
19 |
24,793,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Pgm5
|
UTSW |
19 |
24,801,763 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0478:Pgm5
|
UTSW |
19 |
24,812,233 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1587:Pgm5
|
UTSW |
19 |
24,793,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Pgm5
|
UTSW |
19 |
24,801,676 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2087:Pgm5
|
UTSW |
19 |
24,710,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2152:Pgm5
|
UTSW |
19 |
24,812,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Pgm5
|
UTSW |
19 |
24,812,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3851:Pgm5
|
UTSW |
19 |
24,797,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4034:Pgm5
|
UTSW |
19 |
24,839,021 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4489:Pgm5
|
UTSW |
19 |
24,793,809 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4630:Pgm5
|
UTSW |
19 |
24,812,110 (GRCm39) |
nonsense |
probably null |
|
|
R4736:Pgm5
|
UTSW |
19 |
24,812,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5186:Pgm5
|
UTSW |
19 |
24,797,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5558:Pgm5
|
UTSW |
19 |
24,801,815 (GRCm39) |
splice site |
probably null |
|
|
R5617:Pgm5
|
UTSW |
19 |
24,727,765 (GRCm39) |
nonsense |
probably null |
|
|
R6142:Pgm5
|
UTSW |
19 |
24,801,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6648:Pgm5
|
UTSW |
19 |
24,838,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6821:Pgm5
|
UTSW |
19 |
24,839,011 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7360:Pgm5
|
UTSW |
19 |
24,812,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7421:Pgm5
|
UTSW |
19 |
24,686,663 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7590:Pgm5
|
UTSW |
19 |
24,686,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7610:Pgm5
|
UTSW |
19 |
24,812,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Pgm5
|
UTSW |
19 |
24,705,215 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8254:Pgm5
|
UTSW |
19 |
24,705,089 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8405:Pgm5
|
UTSW |
19 |
24,705,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8516:Pgm5
|
UTSW |
19 |
24,793,074 (GRCm39) |
missense |
probably benign |
|
|
R8755:Pgm5
|
UTSW |
19 |
24,812,212 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9236:Pgm5
|
UTSW |
19 |
24,839,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTCAAACACTTCAATGAATGC -3'
(R):5'- CAACTGTAAGCAGGCATGGC -3'
Sequencing Primer
(F):5'- CATTTGTTGGGGGTCACACACAAC -3'
(R):5'- ACCATTACCTCTGTAGTCAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation