Incidental Mutation 'R5617:Pgm5'
ID |
439613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pgm5
|
Ensembl Gene |
ENSMUSG00000041731 |
Gene Name |
phosphoglucomutase 5 |
Synonyms |
9530034F03Rik, aciculin |
MMRRC Submission |
043276-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R5617 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
24660380-24839219 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 24727765 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 375
(R375*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047666]
|
AlphaFold |
Q8BZF8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047666
AA Change: R375*
|
SMART Domains |
Protein: ENSMUSP00000036025 Gene: ENSMUSG00000041731 AA Change: R375*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (59/59) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,227,891 (GRCm39) |
L645F |
probably benign |
Het |
Acss3 |
T |
C |
10: 106,787,851 (GRCm39) |
Y522C |
probably damaging |
Het |
Asb18 |
A |
G |
1: 89,882,184 (GRCm39) |
V118A |
possibly damaging |
Het |
Aste1 |
T |
A |
9: 105,275,034 (GRCm39) |
C8S |
probably benign |
Het |
Atp10a |
A |
G |
7: 58,453,423 (GRCm39) |
S834G |
probably benign |
Het |
Cdh18 |
A |
G |
15: 23,226,854 (GRCm39) |
D105G |
probably damaging |
Het |
Cenpb |
T |
C |
2: 131,020,934 (GRCm39) |
E288G |
probably damaging |
Het |
Clcnka |
C |
T |
4: 141,116,628 (GRCm39) |
G541D |
probably null |
Het |
Dctn3 |
T |
C |
4: 41,716,407 (GRCm39) |
I134V |
possibly damaging |
Het |
Dennd4b |
T |
C |
3: 90,182,933 (GRCm39) |
S917P |
probably benign |
Het |
Fam135b |
A |
T |
15: 71,493,865 (GRCm39) |
D21E |
probably damaging |
Het |
Fam174a |
T |
C |
1: 95,241,972 (GRCm39) |
V144A |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,639,042 (GRCm39) |
Y1087H |
probably damaging |
Het |
Gm7275 |
A |
T |
16: 47,894,527 (GRCm39) |
|
noncoding transcript |
Het |
Gm9271 |
G |
T |
7: 39,013,076 (GRCm39) |
|
noncoding transcript |
Het |
Grm2 |
T |
C |
9: 106,528,275 (GRCm39) |
|
probably null |
Het |
Htt |
T |
A |
5: 35,028,150 (GRCm39) |
V1802D |
possibly damaging |
Het |
Ighv1-75 |
C |
A |
12: 115,797,874 (GRCm39) |
G16V |
probably benign |
Het |
Krt78 |
G |
A |
15: 101,856,044 (GRCm39) |
T589I |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,631,993 (GRCm39) |
|
probably benign |
Het |
Lbr |
A |
T |
1: 181,656,467 (GRCm39) |
V227D |
probably benign |
Het |
Lsamp |
T |
C |
16: 41,954,786 (GRCm39) |
V211A |
probably damaging |
Het |
Map3k19 |
G |
A |
1: 127,750,703 (GRCm39) |
R883C |
probably damaging |
Het |
Marchf8 |
A |
C |
6: 116,380,481 (GRCm39) |
I111L |
possibly damaging |
Het |
Mrps10 |
T |
A |
17: 47,689,167 (GRCm39) |
M187K |
probably benign |
Het |
Ncdn |
G |
A |
4: 126,638,840 (GRCm39) |
R660C |
probably damaging |
Het |
Notum |
A |
T |
11: 120,547,171 (GRCm39) |
Y332* |
probably null |
Het |
Nr1h5 |
A |
T |
3: 102,855,145 (GRCm39) |
L319I |
probably damaging |
Het |
Or51q1 |
A |
T |
7: 103,628,921 (GRCm39) |
H180L |
possibly damaging |
Het |
Or8k35 |
T |
A |
2: 86,424,345 (GRCm39) |
I276L |
probably benign |
Het |
Osbpl5 |
T |
C |
7: 143,246,684 (GRCm39) |
D765G |
possibly damaging |
Het |
Parp3 |
C |
T |
9: 106,351,704 (GRCm39) |
V170M |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,471,504 (GRCm39) |
|
probably benign |
Het |
Pcdha9 |
T |
G |
18: 37,131,869 (GRCm39) |
S313A |
probably benign |
Het |
Pfkm |
A |
G |
15: 98,020,107 (GRCm39) |
R201G |
possibly damaging |
Het |
Phactr2 |
A |
G |
10: 13,349,809 (GRCm39) |
S72P |
possibly damaging |
Het |
Plaat1 |
A |
T |
16: 29,039,162 (GRCm39) |
R81* |
probably null |
Het |
Plec |
A |
G |
15: 76,058,732 (GRCm39) |
L3600P |
probably damaging |
Het |
Pou6f1 |
G |
A |
15: 100,483,874 (GRCm39) |
T208M |
possibly damaging |
Het |
Rabep1 |
C |
T |
11: 70,808,355 (GRCm39) |
S394L |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,301,489 (GRCm39) |
F687C |
probably damaging |
Het |
Ranbp6 |
A |
G |
19: 29,789,863 (GRCm39) |
F163S |
probably damaging |
Het |
Rcor3 |
T |
C |
1: 191,804,430 (GRCm39) |
N240D |
probably benign |
Het |
Samd13 |
C |
A |
3: 146,352,065 (GRCm39) |
K95N |
probably benign |
Het |
Slc25a17 |
G |
T |
15: 81,244,975 (GRCm39) |
|
probably benign |
Het |
Slfn8 |
G |
T |
11: 82,895,547 (GRCm39) |
H420N |
probably benign |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Stim2 |
G |
A |
5: 54,267,075 (GRCm39) |
E21K |
probably damaging |
Het |
Tmem163 |
A |
G |
1: 127,479,067 (GRCm39) |
Y151H |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,902,834 (GRCm39) |
I209T |
probably benign |
Het |
Tubal3 |
T |
A |
13: 3,983,432 (GRCm39) |
L404H |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,791,640 (GRCm39) |
F150S |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,030,901 (GRCm39) |
S425G |
possibly damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,904,861 (GRCm39) |
H326L |
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 |
R5414:Pgm5
|
UTSW |
19 |
24,686,689 (GRCm39) |
missense |
probably damaging |
0.99 |
R5558:Pgm5
|
UTSW |
19 |
24,801,815 (GRCm39) |
splice site |
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'- ATGCATCCTGCTGGCTTTCG -3'
(R):5'- TACGTACTCTCTAACACATGGC -3'
Sequencing Primer
(F):5'- CTGGCTTTCGCTGGTTTTC -3'
(R):5'- AAGGTCCCCGTGTATGA -3'
|
Posted On |
2016-11-08 |