Incidental Mutation 'R6142:Pgm5'
| ID |
488650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgm5
|
| Ensembl Gene |
ENSMUSG00000041731 |
| Gene Name |
phosphoglucomutase 5 |
| Synonyms |
9530034F03Rik, aciculin |
| MMRRC Submission |
044289-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R6142 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
24660380-24839219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24801772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 152
(I152S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047666]
|
| AlphaFold |
Q8BZF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047666
AA Change: I152S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: I152S
| 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: ENSMUST00000129127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150339
|
| Meta Mutation Damage Score |
0.9132 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
T |
C |
15: 98,496,303 (GRCm39) |
M579V |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,370,558 (GRCm39) |
D16G |
probably benign |
Het |
| Akap12 |
C |
A |
10: 4,263,740 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
T |
C |
18: 65,438,456 (GRCm39) |
E979G |
possibly damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,234,328 (GRCm39) |
D8G |
probably damaging |
Het |
| AW551984 |
G |
T |
9: 39,508,410 (GRCm39) |
L369I |
probably benign |
Het |
| Bmp8b |
A |
T |
4: 123,009,043 (GRCm39) |
H207L |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,860,540 (GRCm39) |
V490F |
probably damaging |
Het |
| Cnot6l |
C |
T |
5: 96,230,837 (GRCm39) |
V377I |
probably benign |
Het |
| Col25a1 |
T |
A |
3: 130,376,978 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
C |
G |
1: 93,118,201 (GRCm39) |
Q375E |
possibly damaging |
Het |
| Ganc |
T |
C |
2: 120,261,218 (GRCm39) |
|
probably null |
Het |
| Gm28168 |
C |
A |
1: 117,875,678 (GRCm39) |
D102E |
probably benign |
Het |
| Gm8212 |
T |
C |
14: 44,438,684 (GRCm39) |
|
probably null |
Het |
| Gria2 |
T |
C |
3: 80,709,024 (GRCm39) |
T53A |
probably benign |
Het |
| Hipk4 |
G |
A |
7: 27,228,590 (GRCm39) |
V347M |
probably damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,269,309 (GRCm39) |
E991G |
probably benign |
Het |
| Hyal1 |
G |
A |
9: 107,456,573 (GRCm39) |
R420H |
probably benign |
Het |
| Il5 |
G |
A |
11: 53,611,805 (GRCm39) |
|
probably null |
Het |
| Kcnh7 |
T |
C |
2: 62,569,704 (GRCm39) |
I731V |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,362,817 (GRCm39) |
K759* |
probably null |
Het |
| Lnpep |
A |
G |
17: 17,786,943 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
T |
C |
14: 75,184,940 (GRCm39) |
E54G |
probably damaging |
Het |
| Msl3l2 |
A |
G |
10: 55,991,461 (GRCm39) |
D62G |
possibly damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,531 (GRCm39) |
L339P |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,761 (GRCm39) |
I20V |
probably damaging |
Het |
| Plcg2 |
C |
A |
8: 118,312,010 (GRCm39) |
T434K |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,537,956 (GRCm39) |
E558G |
unknown |
Het |
| Ranbp3 |
T |
C |
17: 56,993,018 (GRCm39) |
V12A |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,687,984 (GRCm39) |
V635A |
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,746,164 (GRCm39) |
V14A |
probably benign |
Het |
| Rxrg |
G |
T |
1: 167,460,191 (GRCm39) |
A341S |
possibly damaging |
Het |
| Sbf2 |
A |
G |
7: 109,948,182 (GRCm39) |
S1177P |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,414,266 (GRCm39) |
T498A |
probably benign |
Het |
| Slc13a4 |
G |
A |
6: 35,278,718 (GRCm39) |
A57V |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,692,902 (GRCm39) |
D174V |
probably benign |
Het |
| Spart |
T |
G |
3: 55,024,669 (GRCm39) |
V88G |
probably damaging |
Het |
| Tanc1 |
A |
T |
2: 59,663,566 (GRCm39) |
R1108* |
probably null |
Het |
| Tas2r140 |
C |
T |
6: 133,032,698 (GRCm39) |
G20E |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,940,373 (GRCm39) |
V225A |
probably benign |
Het |
| Tmem168 |
C |
A |
6: 13,591,368 (GRCm39) |
A99S |
probably benign |
Het |
| Tnk2 |
T |
A |
16: 32,488,917 (GRCm39) |
D252E |
probably damaging |
Het |
| Tpsg1 |
A |
T |
17: 25,591,460 (GRCm39) |
H20L |
probably benign |
Het |
| Tram1l1 |
T |
C |
3: 124,115,092 (GRCm39) |
F84S |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,240,763 (GRCm39) |
I117L |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,315,829 (GRCm39) |
L219S |
possibly damaging |
Het |
| Zfp40 |
C |
A |
17: 23,395,311 (GRCm39) |
E425D |
probably benign |
Het |
| Zfp773 |
T |
C |
7: 7,135,481 (GRCm39) |
T372A |
probably benign |
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 |
|
|
R5617:Pgm5
|
UTSW |
19 |
24,727,765 (GRCm39) |
nonsense |
probably null |
|
|
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'- TCTTGGAAAGTTGCCCCAC -3'
(R):5'- ATCTACACTGAACAGGCCGG -3'
Sequencing Primer
(F):5'- TTGCCCCACACAGGAAAATTTTCTG -3'
(R):5'- GGGCTGATCAAATATCCTCTCCATAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation