Incidental Mutation 'IGL02557:Myorg'
| ID |
298354 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myorg
|
| Ensembl Gene |
ENSMUSG00000046312 |
| Gene Name |
myogenesis regulating glycosidase (putative) |
| Synonyms |
NET37, AI464131 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
41495604-41503076 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41497900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 577
(V577M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054920]
[ENSMUST00000149596]
|
| AlphaFold |
Q69ZQ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054920
AA Change: V577M
PolyPhen 2
Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312
AA Change: V577M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
56 |
78 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_31
|
311 |
712 |
9.7e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149596
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,670,444 (GRCm39) |
P222L |
probably benign |
Het |
| Alg12 |
T |
A |
15: 88,700,410 (GRCm39) |
K9* |
probably null |
Het |
| Arhgap20 |
T |
C |
9: 51,732,573 (GRCm39) |
V119A |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,857,472 (GRCm39) |
Y178H |
probably damaging |
Het |
| Atad2 |
A |
T |
15: 57,985,993 (GRCm39) |
S243T |
probably benign |
Het |
| Atp13a5 |
A |
C |
16: 29,066,934 (GRCm39) |
F1013V |
probably benign |
Het |
| Atp1a2 |
T |
G |
1: 172,106,218 (GRCm39) |
T865P |
possibly damaging |
Het |
| Bcas2 |
T |
C |
3: 103,079,183 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,161,985 (GRCm39) |
S297P |
unknown |
Het |
| Cdk5 |
A |
T |
5: 24,624,651 (GRCm39) |
S215T |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,329,879 (GRCm39) |
L798Q |
probably damaging |
Het |
| Clcn2 |
A |
G |
16: 20,527,214 (GRCm39) |
S584P |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,751,496 (GRCm39) |
Y384C |
probably damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,614,306 (GRCm39) |
V260D |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,790,300 (GRCm39) |
H78Q |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,908,745 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
C |
A |
1: 170,790,891 (GRCm39) |
|
probably null |
Het |
| Fryl |
A |
T |
5: 73,255,736 (GRCm39) |
L765Q |
probably damaging |
Het |
| Gas2 |
T |
A |
7: 51,537,681 (GRCm39) |
M2K |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,931,501 (GRCm39) |
K44E |
unknown |
Het |
| Gm42878 |
A |
G |
5: 121,665,194 (GRCm39) |
S205P |
possibly damaging |
Het |
| Hcn3 |
A |
T |
3: 89,057,178 (GRCm39) |
S473R |
probably damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,046,817 (GRCm39) |
E65G |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,757,392 (GRCm39) |
V375E |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,832,725 (GRCm39) |
C1642* |
probably null |
Het |
| Lsr |
T |
G |
7: 30,657,919 (GRCm39) |
E347A |
possibly damaging |
Het |
| Mapre2 |
C |
A |
18: 23,966,014 (GRCm39) |
T33K |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,085,663 (GRCm39) |
F772I |
probably benign |
Het |
| Nbas |
T |
C |
12: 13,411,029 (GRCm39) |
V891A |
probably damaging |
Het |
| Neurl4 |
A |
T |
11: 69,797,161 (GRCm39) |
I583F |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,460,261 (GRCm39) |
S2163P |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,537 (GRCm39) |
Y288H |
probably damaging |
Het |
| Or10ak8 |
T |
C |
4: 118,774,389 (GRCm39) |
T92A |
probably benign |
Het |
| Or4c107 |
A |
G |
2: 88,789,025 (GRCm39) |
I72V |
probably benign |
Het |
| Pak1 |
A |
G |
7: 97,520,794 (GRCm39) |
E151G |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,906,081 (GRCm39) |
N588D |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,371,391 (GRCm39) |
T756A |
possibly damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,967,952 (GRCm39) |
|
probably null |
Het |
| Seh1l |
T |
C |
18: 67,922,483 (GRCm39) |
S279P |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,564,411 (GRCm39) |
M35K |
probably damaging |
Het |
| Spesp1 |
T |
C |
9: 62,180,416 (GRCm39) |
E164G |
possibly damaging |
Het |
| Sprr3 |
T |
C |
3: 92,364,473 (GRCm39) |
T124A |
possibly damaging |
Het |
| Trim24 |
A |
C |
6: 37,942,434 (GRCm39) |
|
probably null |
Het |
| Unc79 |
A |
G |
12: 103,148,418 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,342 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Myorg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Myorg
|
APN |
4 |
41,498,923 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01352:Myorg
|
APN |
4 |
41,499,469 (GRCm39) |
nonsense |
probably null |
|
|
IGL01384:Myorg
|
APN |
4 |
41,498,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02150:Myorg
|
APN |
4 |
41,499,183 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0238:Myorg
|
UTSW |
4 |
41,498,912 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0238:Myorg
|
UTSW |
4 |
41,498,912 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0413:Myorg
|
UTSW |
4 |
41,498,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0455:Myorg
|
UTSW |
4 |
41,499,538 (GRCm39) |
nonsense |
probably null |
|
|
R0511:Myorg
|
UTSW |
4 |
41,498,538 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0560:Myorg
|
UTSW |
4 |
41,498,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0785:Myorg
|
UTSW |
4 |
41,497,539 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0940:Myorg
|
UTSW |
4 |
41,497,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Myorg
|
UTSW |
4 |
41,497,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Myorg
|
UTSW |
4 |
41,498,553 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1984:Myorg
|
UTSW |
4 |
41,497,501 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2192:Myorg
|
UTSW |
4 |
41,497,704 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2496:Myorg
|
UTSW |
4 |
41,499,165 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4212:Myorg
|
UTSW |
4 |
41,498,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4321:Myorg
|
UTSW |
4 |
41,498,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4672:Myorg
|
UTSW |
4 |
41,499,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4890:Myorg
|
UTSW |
4 |
41,498,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4954:Myorg
|
UTSW |
4 |
41,498,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5177:Myorg
|
UTSW |
4 |
41,498,407 (GRCm39) |
nonsense |
probably null |
|
|
R5967:Myorg
|
UTSW |
4 |
41,497,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6005:Myorg
|
UTSW |
4 |
41,498,895 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6128:Myorg
|
UTSW |
4 |
41,498,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6162:Myorg
|
UTSW |
4 |
41,497,899 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7202:Myorg
|
UTSW |
4 |
41,498,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7211:Myorg
|
UTSW |
4 |
41,498,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Myorg
|
UTSW |
4 |
41,498,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Myorg
|
UTSW |
4 |
41,498,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7680:Myorg
|
UTSW |
4 |
41,497,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Myorg
|
UTSW |
4 |
41,497,568 (GRCm39) |
nonsense |
probably null |
|
|
R8809:Myorg
|
UTSW |
4 |
41,498,812 (GRCm39) |
missense |
probably benign |
|
|
R8981:Myorg
|
UTSW |
4 |
41,498,209 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9257:Myorg
|
UTSW |
4 |
41,499,030 (GRCm39) |
missense |
probably benign |
|
|
X0024:Myorg
|
UTSW |
4 |
41,498,107 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1088:Myorg
|
UTSW |
4 |
41,497,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation