Incidental Mutation 'R0045:Myl3'
| ID |
15567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myl3
|
| Ensembl Gene |
ENSMUSG00000059741 |
| Gene Name |
myosin, light polypeptide 3 |
| Synonyms |
slow skeletal, alkali, Mylc, MLC1s, ventricular, MLC1v |
| MMRRC Submission |
038339-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
R0045 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110592746-110598870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 110596997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 119
(D119A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079784]
[ENSMUST00000124267]
[ENSMUST00000136695]
[ENSMUST00000200011]
|
| AlphaFold |
P09542 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079784
AA Change: D119A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078715
Gene: ENSMUSG00000059741
AA Change: D119A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
45 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
61 |
124 |
1.28e-5 |
PROSPERO |
|
internal_repeat_1
|
140 |
198 |
1.28e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124267
AA Change: D42A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142424
Gene: ENSMUSG00000059741
AA Change: D42A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ggwa_
|
1 |
127 |
2e-23 |
SMART |
|
PDB:1W7J|B
|
2 |
126 |
3e-68 |
PDB |
|
Blast:EFh
|
64 |
92 |
5e-12 |
BLAST |
|
Blast:EFh
|
99 |
126 |
2e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136695
AA Change: D42A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142791
Gene: ENSMUSG00000059741
AA Change: D42A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ggwa_
|
1 |
127 |
2e-23 |
SMART |
|
PDB:1W7J|B
|
2 |
126 |
3e-68 |
PDB |
|
Blast:EFh
|
64 |
92 |
5e-12 |
BLAST |
|
Blast:EFh
|
99 |
126 |
2e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153142
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200011
AA Change: D119A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142530
Gene: ENSMUSG00000059741
AA Change: D119A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
45 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_6
|
62 |
93 |
4.7e-3 |
PFAM |
|
internal_repeat_1
|
140 |
182 |
5.24e-5 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.3993 |
| Coding Region Coverage |
- 1x: 81.3%
- 3x: 72.5%
- 10x: 50.2%
- 20x: 29.9%
|
| Validation Efficiency |
92% (56/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
C |
7: 76,348,588 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,115,941 (GRCm39) |
D650G |
possibly damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,235,998 (GRCm39) |
S791G |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,594,498 (GRCm39) |
R1198* |
probably null |
Het |
| Atf2 |
G |
T |
2: 73,660,200 (GRCm39) |
T189N |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,536,814 (GRCm39) |
K16E |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,684,012 (GRCm39) |
K368E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,366,757 (GRCm39) |
Y241C |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,103 (GRCm39) |
S940N |
probably benign |
Het |
| Cds2 |
G |
T |
2: 132,147,075 (GRCm39) |
G402V |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,900,171 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
C |
3: 106,478,133 (GRCm39) |
V155A |
possibly damaging |
Het |
| Exoc3l |
C |
T |
8: 106,020,317 (GRCm39) |
V203M |
probably damaging |
Het |
| Fsip1 |
C |
A |
2: 118,078,773 (GRCm39) |
|
probably null |
Het |
| Htra1 |
T |
A |
7: 130,563,262 (GRCm39) |
S164R |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,555,152 (GRCm39) |
D677V |
probably damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,710 (GRCm39) |
S133P |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,786,803 (GRCm39) |
Y271C |
probably damaging |
Het |
| Lpcat3 |
T |
C |
6: 124,678,437 (GRCm39) |
I228T |
probably benign |
Het |
| Pcsk6 |
T |
A |
7: 65,612,676 (GRCm39) |
C315S |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,029,122 (GRCm39) |
H398R |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,378,601 (GRCm39) |
T509S |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,622 (GRCm39) |
I1032T |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,286,487 (GRCm39) |
T723I |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,774,518 (GRCm39) |
S189P |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,363,584 (GRCm39) |
D340N |
probably benign |
Het |
| Vars1 |
A |
T |
17: 35,229,595 (GRCm39) |
H404L |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,618,174 (GRCm39) |
L693* |
probably null |
Het |
|
| Other mutations in Myl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Myl3
|
APN |
9 |
110,595,557 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01292:Myl3
|
APN |
9 |
110,597,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02814:Myl3
|
APN |
9 |
110,597,059 (GRCm39) |
nonsense |
probably null |
|
|
R0009:Myl3
|
UTSW |
9 |
110,596,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Myl3
|
UTSW |
9 |
110,596,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Myl3
|
UTSW |
9 |
110,596,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Myl3
|
UTSW |
9 |
110,596,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Myl3
|
UTSW |
9 |
110,596,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0080:Myl3
|
UTSW |
9 |
110,596,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Myl3
|
UTSW |
9 |
110,596,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0095:Myl3
|
UTSW |
9 |
110,596,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Myl3
|
UTSW |
9 |
110,598,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1938:Myl3
|
UTSW |
9 |
110,595,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Myl3
|
UTSW |
9 |
110,596,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2231:Myl3
|
UTSW |
9 |
110,596,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2315:Myl3
|
UTSW |
9 |
110,595,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3884:Myl3
|
UTSW |
9 |
110,597,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5473:Myl3
|
UTSW |
9 |
110,597,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Myl3
|
UTSW |
9 |
110,571,105 (GRCm39) |
splice site |
probably benign |
|
|
| Posted On |
2012-12-21 |
Incidental Mutation