Incidental Mutation 'R6799:Pygm'
| ID |
533240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pygm
|
| Ensembl Gene |
ENSMUSG00000032648 |
| Gene Name |
muscle glycogen phosphorylase |
| Synonyms |
PG |
| MMRRC Submission |
044912-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6434438-6448494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6448157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 733
(Y733F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035269]
[ENSMUST00000035716]
[ENSMUST00000113467]
[ENSMUST00000113468]
[ENSMUST00000113469]
[ENSMUST00000113471]
[ENSMUST00000113472]
[ENSMUST00000113475]
[ENSMUST00000113476]
[ENSMUST00000113483]
[ENSMUST00000127021]
[ENSMUST00000138555]
[ENSMUST00000139522]
[ENSMUST00000146601]
[ENSMUST00000146831]
[ENSMUST00000150713]
[ENSMUST00000167240]
|
| AlphaFold |
Q9WUB3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035269
AA Change: Y821F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: Y821F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphorylase
|
113 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035716
|
| SMART Domains |
Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
|
RasGEF
|
150 |
388 |
1.08e-100 |
SMART |
|
EFh
|
430 |
458 |
8.25e-3 |
SMART |
|
EFh
|
459 |
487 |
1.42e1 |
SMART |
|
C1
|
499 |
548 |
3.22e-14 |
SMART |
|
low complexity region
|
575 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113467
|
| SMART Domains |
Protein: ENSMUSP00000109095
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RasGEFN
|
3 |
24 |
9e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113468
|
| SMART Domains |
Protein: ENSMUSP00000109096
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
97 |
1.93e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113469
|
| SMART Domains |
Protein: ENSMUSP00000109097
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RasGEFN
|
3 |
24 |
1e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113471
|
| SMART Domains |
Protein: ENSMUSP00000109099
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
126 |
7.2e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113472
|
| SMART Domains |
Protein: ENSMUSP00000109100
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
126 |
7.2e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113475
|
| SMART Domains |
Protein: ENSMUSP00000109103
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
126 |
7.2e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113476
|
| SMART Domains |
Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
|
RasGEF
|
150 |
388 |
1.08e-100 |
SMART |
|
EFh
|
430 |
458 |
8.25e-3 |
SMART |
|
EFh
|
459 |
487 |
1.42e1 |
SMART |
|
C1
|
499 |
548 |
3.22e-14 |
SMART |
|
low complexity region
|
575 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113483
AA Change: Y733F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: Y733F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphorylase
|
62 |
742 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127021
|
| SMART Domains |
Protein: ENSMUSP00000119740
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RasGEFN
|
3 |
24 |
1e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138555
|
| SMART Domains |
Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
|
Pfam:RasGEF
|
151 |
231 |
1.6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139522
|
| SMART Domains |
Protein: ENSMUSP00000123036
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
125 |
6.02e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146601
|
| SMART Domains |
Protein: ENSMUSP00000117681
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RasGEFN
|
3 |
58 |
1e-35 |
BLAST |
|
SCOP:d1bkds_
|
9 |
58 |
1e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146831
|
| SMART Domains |
Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150713
|
| SMART Domains |
Protein: ENSMUSP00000120949
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
95 |
6.73e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167240
|
| SMART Domains |
Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
|
RasGEF
|
150 |
388 |
1.08e-100 |
SMART |
|
EFh
|
430 |
458 |
8.25e-3 |
SMART |
|
EFh
|
459 |
487 |
1.42e1 |
SMART |
|
C1
|
499 |
548 |
3.22e-14 |
SMART |
|
low complexity region
|
575 |
595 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a glycolysis enzyme found in muscle. Highly similar enzymes encoded by different genes are found in liver and brain. The encoded protein is involved in regulating the breakdown of glycogen to glucose-1-phosphate, which is necessary for ATP generation. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance. [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 |
|---|
| 1700018F24Rik |
A |
T |
5: 144,981,624 (GRCm39) |
Y153F |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,727,474 (GRCm39) |
H364R |
probably damaging |
Het |
| Anapc1 |
C |
G |
2: 128,501,657 (GRCm39) |
R795T |
probably null |
Het |
| Arhgap18 |
T |
A |
10: 26,725,917 (GRCm39) |
N47K |
possibly damaging |
Het |
| Arhgap26 |
A |
G |
18: 39,232,660 (GRCm39) |
N96D |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,598,457 (GRCm39) |
E191* |
probably null |
Het |
| Cc2d2b |
A |
G |
19: 40,779,652 (GRCm39) |
E697G |
possibly damaging |
Het |
| Chaf1a |
A |
T |
17: 56,354,059 (GRCm39) |
I110F |
unknown |
Het |
| Clca4b |
A |
T |
3: 144,621,388 (GRCm39) |
|
probably null |
Het |
| Dagla |
C |
A |
19: 10,234,214 (GRCm39) |
V366L |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,900,049 (GRCm39) |
N878S |
probably benign |
Het |
| Dapk3 |
A |
G |
10: 81,026,096 (GRCm39) |
Y129C |
probably damaging |
Het |
| Dhx38 |
A |
G |
8: 110,279,834 (GRCm39) |
L952P |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Dscaml1 |
G |
A |
9: 45,361,881 (GRCm39) |
V214I |
probably benign |
Het |
| Dtymk |
A |
G |
1: 93,726,214 (GRCm39) |
L15P |
probably benign |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,178 (GRCm39) |
M30V |
probably benign |
Het |
| Egfr |
G |
A |
11: 16,846,952 (GRCm39) |
C783Y |
probably damaging |
Het |
| Epha8 |
C |
T |
4: 136,672,980 (GRCm39) |
R268Q |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,453,998 (GRCm39) |
R49S |
probably damaging |
Het |
| Fcsk |
T |
C |
8: 111,620,050 (GRCm39) |
M276V |
probably benign |
Het |
| Gm8797 |
A |
T |
3: 5,816,027 (GRCm39) |
T22S |
probably benign |
Het |
| Hao1 |
T |
C |
2: 134,372,685 (GRCm39) |
S108G |
probably damaging |
Het |
| Hdac4 |
C |
A |
1: 91,929,935 (GRCm39) |
A184S |
probably damaging |
Het |
| Hikeshi |
T |
A |
7: 89,579,553 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,004,757 (GRCm39) |
R452C |
probably benign |
Het |
| Hsdl1 |
T |
C |
8: 120,293,169 (GRCm39) |
S68G |
probably benign |
Het |
| Kctd20 |
T |
C |
17: 29,182,351 (GRCm39) |
|
probably null |
Het |
| Klf11 |
T |
C |
12: 24,705,638 (GRCm39) |
V364A |
possibly damaging |
Het |
| Kpna6 |
A |
G |
4: 129,551,247 (GRCm39) |
L86P |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lpin1 |
T |
A |
12: 16,611,045 (GRCm39) |
N516Y |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,314,248 (GRCm39) |
Y2161C |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,923,630 (GRCm39) |
C512* |
probably null |
Het |
| Mfsd1 |
T |
C |
3: 67,507,314 (GRCm39) |
I405T |
probably damaging |
Het |
| Msc |
T |
G |
1: 14,825,491 (GRCm39) |
D161A |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,800,841 (GRCm39) |
I755V |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,419,911 (GRCm39) |
T803A |
probably damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,795,346 (GRCm39) |
I210V |
probably benign |
Het |
| Npat |
A |
T |
9: 53,462,930 (GRCm39) |
H108L |
probably benign |
Het |
| Nt5dc1 |
A |
G |
10: 34,189,703 (GRCm39) |
I329T |
possibly damaging |
Het |
| Or10v5 |
T |
A |
19: 11,806,178 (GRCm39) |
I71F |
possibly damaging |
Het |
| Or51q1c |
T |
A |
7: 103,648,006 (GRCm39) |
|
probably null |
Het |
| Or8b35 |
T |
C |
9: 37,904,478 (GRCm39) |
L230P |
possibly damaging |
Het |
| Parm1 |
C |
T |
5: 91,742,070 (GRCm39) |
T146I |
possibly damaging |
Het |
| Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
| Pias1 |
G |
T |
9: 62,789,334 (GRCm39) |
S624R |
probably benign |
Het |
| Ppif |
A |
G |
14: 25,696,488 (GRCm39) |
H95R |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,418,345 (GRCm39) |
Y141H |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,205,552 (GRCm39) |
M1K |
probably null |
Het |
| Rfpl4b |
T |
C |
10: 38,697,341 (GRCm39) |
K87E |
possibly damaging |
Het |
| Rnf113a1 |
A |
C |
X: 36,455,840 (GRCm39) |
T266P |
probably benign |
Het |
| Scn5a |
A |
C |
9: 119,324,688 (GRCm39) |
I1380S |
possibly damaging |
Het |
| Sel1l |
A |
G |
12: 91,781,742 (GRCm39) |
|
probably null |
Het |
| Slc18a1 |
T |
A |
8: 69,493,633 (GRCm39) |
I400L |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,246,958 (GRCm39) |
S73P |
probably damaging |
Het |
| Slc9a5 |
A |
T |
8: 106,090,600 (GRCm39) |
N685I |
possibly damaging |
Het |
| Tnc |
C |
T |
4: 63,883,841 (GRCm39) |
R1868H |
probably benign |
Het |
| Trdmt1 |
A |
G |
2: 13,520,824 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
G |
T |
7: 4,136,221 (GRCm39) |
|
probably null |
Het |
| Tyms |
A |
T |
5: 30,266,069 (GRCm39) |
D283E |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,798 (GRCm39) |
Y259F |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r88 |
C |
A |
14: 51,651,426 (GRCm39) |
Q255K |
probably benign |
Het |
| Vmn2r95 |
C |
T |
17: 18,659,555 (GRCm39) |
P100S |
probably damaging |
Het |
| Zfp128 |
A |
T |
7: 12,624,826 (GRCm39) |
H398L |
possibly damaging |
Het |
|
| Other mutations in Pygm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Pygm
|
APN |
19 |
6,441,424 (GRCm39) |
missense |
probably benign |
|
|
IGL01743:Pygm
|
APN |
19 |
6,443,024 (GRCm39) |
splice site |
probably null |
|
|
IGL01827:Pygm
|
APN |
19 |
6,440,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02032:Pygm
|
APN |
19 |
6,438,117 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02261:Pygm
|
APN |
19 |
6,438,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02431:Pygm
|
APN |
19 |
6,438,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02511:Pygm
|
APN |
19 |
6,435,718 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02967:Pygm
|
APN |
19 |
6,443,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03081:Pygm
|
APN |
19 |
6,438,851 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0336:Pygm
|
UTSW |
19 |
6,438,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Pygm
|
UTSW |
19 |
6,441,396 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0799:Pygm
|
UTSW |
19 |
6,436,048 (GRCm39) |
intron |
probably benign |
|
|
R1445:Pygm
|
UTSW |
19 |
6,439,917 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1752:Pygm
|
UTSW |
19 |
6,441,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1828:Pygm
|
UTSW |
19 |
6,447,637 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2054:Pygm
|
UTSW |
19 |
6,438,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2086:Pygm
|
UTSW |
19 |
6,441,511 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2116:Pygm
|
UTSW |
19 |
6,436,438 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2431:Pygm
|
UTSW |
19 |
6,443,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Pygm
|
UTSW |
19 |
6,447,631 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3938:Pygm
|
UTSW |
19 |
6,442,980 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4609:Pygm
|
UTSW |
19 |
6,441,439 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4924:Pygm
|
UTSW |
19 |
6,443,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Pygm
|
UTSW |
19 |
6,448,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Pygm
|
UTSW |
19 |
6,439,494 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5296:Pygm
|
UTSW |
19 |
6,434,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Pygm
|
UTSW |
19 |
6,440,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5994:Pygm
|
UTSW |
19 |
6,448,073 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6030:Pygm
|
UTSW |
19 |
6,438,842 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6030:Pygm
|
UTSW |
19 |
6,438,842 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6188:Pygm
|
UTSW |
19 |
6,447,967 (GRCm39) |
splice site |
probably null |
|
|
R6266:Pygm
|
UTSW |
19 |
6,448,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6855:Pygm
|
UTSW |
19 |
6,443,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Pygm
|
UTSW |
19 |
6,443,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6857:Pygm
|
UTSW |
19 |
6,443,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Pygm
|
UTSW |
19 |
6,438,893 (GRCm39) |
missense |
probably benign |
|
|
R7256:Pygm
|
UTSW |
19 |
6,435,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7263:Pygm
|
UTSW |
19 |
6,438,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7398:Pygm
|
UTSW |
19 |
6,435,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Pygm
|
UTSW |
19 |
6,436,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Pygm
|
UTSW |
19 |
6,438,117 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8499:Pygm
|
UTSW |
19 |
6,440,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8967:Pygm
|
UTSW |
19 |
6,434,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9331:Pygm
|
UTSW |
19 |
6,448,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9656:Pygm
|
UTSW |
19 |
6,438,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTACAAGGTGAGGGGTCC -3'
(R):5'- TCACACTAGGCATCAGGACCTAG -3'
Sequencing Primer
(F):5'- GTGAGGGGTCCAGCGGC -3'
(R):5'- CTAGGCATCAGGACCTAGAGACTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation