Incidental Mutation 'PIT4466001:Pgm5'
| ID |
555812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgm5
|
| Ensembl Gene |
ENSMUSG00000041731 |
| Gene Name |
phosphoglucomutase 5 |
| Synonyms |
9530034F03Rik, aciculin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
PIT4466001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
24660380-24839219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 24801693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 178
(Q178H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047666]
|
| AlphaFold |
Q8BZF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047666
AA Change: Q178H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: Q178H
| 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 |
|
| Coding Region Coverage |
- 1x: 93.5%
- 3x: 90.9%
- 10x: 85.1%
- 20x: 72.5%
|
| Validation Efficiency |
|
| 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 |
|---|
| A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
| Adamts1 |
C |
A |
16: 85,593,579 (GRCm39) |
G719* |
probably null |
Het |
| Ano5 |
G |
T |
7: 51,194,599 (GRCm39) |
D111Y |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
| AU021092 |
T |
A |
16: 5,038,253 (GRCm39) |
S85C |
probably damaging |
Het |
| Capn5 |
T |
C |
7: 97,773,195 (GRCm39) |
D603G |
probably benign |
Het |
| Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
| Ccr1 |
T |
C |
9: 123,763,765 (GRCm39) |
Y255C |
probably damaging |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,410,722 (GRCm39) |
T553A |
probably benign |
Het |
| Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
| Cntnap1 |
T |
C |
11: 101,068,131 (GRCm39) |
F48L |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,046,064 (GRCm39) |
D84G |
probably damaging |
Het |
| Ddx47 |
T |
C |
6: 134,992,803 (GRCm39) |
I154T |
probably benign |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,185,624 (GRCm39) |
L99P |
probably benign |
Het |
| Dzank1 |
A |
G |
2: 144,325,293 (GRCm39) |
I558T |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
| Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,969,206 (GRCm39) |
L1553P |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
| Gm3099 |
A |
G |
14: 15,346,517 (GRCm39) |
M128V |
probably benign |
Het |
| Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
| Hck |
C |
T |
2: 152,966,191 (GRCm39) |
T55M |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,471,123 (GRCm39) |
|
probably null |
Het |
| Ica1l |
C |
T |
1: 60,054,995 (GRCm39) |
|
probably null |
Het |
| Ilf3 |
T |
C |
9: 21,314,662 (GRCm39) |
Y765H |
unknown |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,748,056 (GRCm39) |
T270A |
probably benign |
Het |
| Mib1 |
G |
A |
18: 10,775,541 (GRCm39) |
D498N |
probably benign |
Het |
| Naaladl1 |
A |
T |
19: 6,164,663 (GRCm39) |
T576S |
possibly damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,247,577 (GRCm39) |
I1909N |
probably benign |
Het |
| Negr1 |
A |
G |
3: 156,565,235 (GRCm39) |
D107G |
probably benign |
Het |
| Nlrc4 |
A |
G |
17: 74,734,114 (GRCm39) |
M933T |
probably benign |
Het |
| Nmnat3 |
T |
G |
9: 98,292,306 (GRCm39) |
F184V |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,639 (GRCm39) |
V45E |
probably damaging |
Het |
| Or5p81 |
T |
C |
7: 108,266,743 (GRCm39) |
V40A |
possibly damaging |
Het |
| Or6c76 |
C |
T |
10: 129,612,142 (GRCm39) |
R120C |
probably benign |
Het |
| Or7a42 |
C |
A |
10: 78,791,676 (GRCm39) |
F212L |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,838,725 (GRCm39) |
T640M |
unknown |
Het |
| Pramel34 |
A |
C |
5: 93,784,147 (GRCm39) |
L439R |
probably damaging |
Het |
| Psg18 |
T |
G |
7: 18,083,241 (GRCm39) |
T305P |
probably benign |
Het |
| Skil |
T |
A |
3: 31,152,381 (GRCm39) |
V301D |
probably damaging |
Het |
| Slc36a1 |
C |
A |
11: 55,109,895 (GRCm39) |
P68T |
probably damaging |
Het |
| Smim6 |
T |
C |
11: 115,804,371 (GRCm39) |
F53L |
probably benign |
Het |
| Tpgs2 |
G |
A |
18: 25,301,652 (GRCm39) |
T5M |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,765,410 (GRCm39) |
V2523D |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,432,197 (GRCm39) |
D429E |
probably damaging |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,818 (GRCm39) |
T239A |
probably benign |
Het |
| Vmn1r168 |
T |
C |
7: 23,240,421 (GRCm39) |
F93L |
probably damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,912,403 (GRCm39) |
N253S |
possibly damaging |
Het |
| Zfp644 |
C |
T |
5: 106,784,343 (GRCm39) |
A735T |
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 |
|
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 |
|
|
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'- ATACAGCGCCACTCTTCAGATG -3'
(R):5'- GGCCGGTAATGCATCTCTGATAG -3'
Sequencing Primer
(F):5'- GCCACTCTTCAGATGACTAATTCAG -3'
(R):5'- GCATCTCTGATAGAAATTATAGAGGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation