Incidental Mutation 'R2315:Myl3'
| ID |
245461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myl3
|
| Ensembl Gene |
ENSMUSG00000059741 |
| Gene Name |
myosin, light polypeptide 3 |
| Synonyms |
slow skeletal, alkali, Mylc, MLC1s, ventricular, MLC1v |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
R2315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110592746-110598870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110595809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 102
(L102P)
|
| 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: L102P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078715
Gene: ENSMUSG00000059741
AA Change: L102P
| 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: L25P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142424
Gene: ENSMUSG00000059741
AA Change: L25P
| 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: L25P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142791
Gene: ENSMUSG00000059741
AA Change: L25P
| 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: L102P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142530
Gene: ENSMUSG00000059741
AA Change: L102P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnot1 |
C |
T |
8: 96,475,690 (GRCm39) |
G995R |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,735 (GRCm39) |
T547A |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,586,015 (GRCm39) |
Y777H |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,071,431 (GRCm39) |
N50S |
probably benign |
Het |
| Fsip2 |
G |
C |
2: 82,805,437 (GRCm39) |
M585I |
probably benign |
Het |
| Gm13941 |
A |
G |
2: 110,935,162 (GRCm39) |
S23P |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hoxa2 |
A |
G |
6: 52,139,871 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,124,676 (GRCm39) |
I562V |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,908,999 (GRCm39) |
L179M |
probably damaging |
Het |
| Pag1 |
C |
T |
3: 9,764,824 (GRCm39) |
V110I |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,403,908 (GRCm39) |
F861L |
probably damaging |
Het |
| Serpina3n |
A |
T |
12: 104,378,627 (GRCm39) |
I316F |
possibly damaging |
Het |
| Sez6l |
A |
G |
5: 112,612,463 (GRCm39) |
S493P |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,145,521 (GRCm39) |
T52S |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vmn2r17 |
A |
C |
5: 109,575,897 (GRCm39) |
D256A |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,188,335 (GRCm39) |
F47S |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,067 (GRCm39) |
D532G |
possibly damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAAGGTGAGCAGGATCCTG -3'
(R):5'- TGTCTGGTAGCCAAAGCCAC -3'
Sequencing Primer
(F):5'- ACCAGGGGTCTCTGATCCAATAG -3'
(R):5'- TGGTAGCCAAAGCCACATCCG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation