Incidental Mutation 'R6878:Myl2'
| ID |
536505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myl2
|
| Ensembl Gene |
ENSMUSG00000013936 |
| Gene Name |
myosin, light polypeptide 2, regulatory, cardiac, slow |
| Synonyms |
MLC-2v, Mlc2v, MLC-2, Gm32672, Mylpc |
| MMRRC Submission |
044974-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6878 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122239014-122251535 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122243140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 148
(I148T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014080]
[ENSMUST00000058960]
[ENSMUST00000111750]
[ENSMUST00000111751]
[ENSMUST00000139213]
[ENSMUST00000146733]
[ENSMUST00000150535]
[ENSMUST00000152389]
[ENSMUST00000155612]
|
| AlphaFold |
P51667 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014080
|
| SMART Domains |
Protein: ENSMUSP00000014080
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
28 |
56 |
2.81e-5 |
SMART |
|
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
EFh
|
134 |
162 |
3.97e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058960
|
| SMART Domains |
Protein: ENSMUSP00000050582
Gene: ENSMUSG00000043036
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
140 |
158 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
318 |
N/A |
INTRINSIC |
|
coiled coil region
|
393 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111750
AA Change: I148T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107379
Gene: ENSMUSG00000013936
AA Change: I148T
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
28 |
56 |
2.81e-5 |
SMART |
|
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111751
|
| SMART Domains |
Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
28 |
56 |
2.81e-5 |
SMART |
|
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
EFh
|
134 |
162 |
3.97e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126006
|
| SMART Domains |
Protein: ENSMUSP00000123261
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2W4H|B
|
2 |
62 |
4e-8 |
PDB |
|
SCOP:d1wdcb_
|
10 |
62 |
4e-5 |
SMART |
|
Blast:EFh
|
37 |
62 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139213
|
| SMART Domains |
Protein: ENSMUSP00000114156
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
6 |
54 |
7e-8 |
PFAM |
|
Pfam:EF-hand_1
|
9 |
37 |
6.4e-8 |
PFAM |
|
Pfam:EF-hand_6
|
9 |
40 |
6.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146733
|
| SMART Domains |
Protein: ENSMUSP00000142592
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
6 |
54 |
1.2e-6 |
PFAM |
|
Pfam:EF-hand_1
|
9 |
37 |
1.1e-6 |
PFAM |
|
Pfam:EF-hand_6
|
9 |
40 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150535
|
| SMART Domains |
Protein: ENSMUSP00000120274
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
6 |
54 |
6.2e-8 |
PFAM |
|
Pfam:EF-hand_1
|
9 |
37 |
5.8e-8 |
PFAM |
|
Pfam:EF-hand_6
|
9 |
40 |
5.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152389
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153816
|
| SMART Domains |
Protein: ENSMUSP00000119627
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_1
|
62 |
90 |
2.4e-8 |
PFAM |
|
Pfam:EF-hand_6
|
62 |
91 |
7.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155612
|
| SMART Domains |
Protein: ENSMUSP00000120105
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
9 |
37 |
2.81e-5 |
SMART |
|
EFh
|
79 |
107 |
4.53e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-in allele exhibit embryonic growth retardation and die between E12.5 and E14.5 with abnormal heart development characterized by a single ventricle, complete absence of the interventricular groove and septum, and a thin myocardium compact layer. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,581,613 (GRCm39) |
N4810K |
probably benign |
Het |
| Arhgap26 |
A |
T |
18: 39,360,465 (GRCm39) |
I397F |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,299,038 (GRCm39) |
V9A |
probably benign |
Het |
| Asl |
A |
G |
5: 130,053,133 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
A |
19: 6,300,208 (GRCm39) |
L672Q |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,809,694 (GRCm39) |
D316G |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,717,832 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
T |
C |
11: 82,070,519 (GRCm39) |
I18V |
probably benign |
Het |
| Cd47 |
A |
G |
16: 49,731,232 (GRCm39) |
E278G |
possibly damaging |
Het |
| Cilp |
G |
A |
9: 65,187,129 (GRCm39) |
G1075S |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,934,537 (GRCm39) |
V604A |
probably benign |
Het |
| Fancm |
A |
T |
12: 65,163,197 (GRCm39) |
R1454* |
probably null |
Het |
| Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
| Gm4302 |
GCA |
GCACCA |
10: 100,177,377 (GRCm39) |
|
probably benign |
Het |
| Gm4302 |
CAG |
CAGAAG |
10: 100,177,369 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
T |
C |
12: 73,975,055 (GRCm39) |
M147T |
possibly damaging |
Het |
| Hps5 |
C |
G |
7: 46,433,058 (GRCm39) |
A221P |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,587,431 (GRCm39) |
S67P |
probably damaging |
Het |
| Madd |
T |
A |
2: 91,000,202 (GRCm39) |
N568I |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,302,712 (GRCm39) |
S375P |
possibly damaging |
Het |
| Mfsd6 |
G |
T |
1: 52,747,912 (GRCm39) |
Q318K |
probably damaging |
Het |
| Mis18a |
A |
T |
16: 90,518,644 (GRCm39) |
I106N |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,193,842 (GRCm39) |
Q730R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,325,708 (GRCm39) |
L560P |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,467,899 (GRCm39) |
T285A |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 77,954,120 (GRCm39) |
D547V |
probably benign |
Het |
| Obox2 |
G |
T |
7: 15,131,245 (GRCm39) |
S117I |
probably benign |
Het |
| Or8k32 |
A |
G |
2: 86,369,109 (GRCm39) |
L48P |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,175,656 (GRCm39) |
N226K |
possibly damaging |
Het |
| Pcdha3 |
T |
A |
18: 37,080,416 (GRCm39) |
L386* |
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,142,417 (GRCm39) |
F1323S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,594,936 (GRCm39) |
V2771A |
probably benign |
Het |
| Prl7c1 |
T |
C |
13: 27,962,827 (GRCm39) |
T59A |
possibly damaging |
Het |
| Rab15 |
T |
C |
12: 76,851,257 (GRCm39) |
T20A |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,301 (GRCm39) |
E1629G |
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,608,657 (GRCm39) |
L235Q |
probably damaging |
Het |
| Sema3a |
A |
T |
5: 13,505,511 (GRCm39) |
I91F |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,810,386 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Speer4f2 |
T |
G |
5: 17,580,765 (GRCm39) |
M114R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,370,388 (GRCm39) |
D264G |
possibly damaging |
Het |
| Tbl1xr1 |
T |
G |
3: 22,257,368 (GRCm39) |
N410K |
possibly damaging |
Het |
| Tmed7 |
A |
T |
18: 46,726,532 (GRCm39) |
D74E |
probably damaging |
Het |
| Upk3b |
T |
C |
5: 136,068,001 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r29 |
A |
G |
7: 7,244,863 (GRCm39) |
V337A |
probably benign |
Het |
| Yy1 |
C |
G |
12: 108,780,682 (GRCm39) |
P352A |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,108,406 (GRCm39) |
L56F |
possibly damaging |
Het |
| Zfp873 |
T |
C |
10: 81,896,529 (GRCm39) |
I457T |
probably benign |
Het |
|
| Other mutations in Myl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Myl2
|
APN |
5 |
122,244,767 (GRCm39) |
missense |
probably benign |
|
|
R2879:Myl2
|
UTSW |
5 |
122,242,748 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4580:Myl2
|
UTSW |
5 |
122,244,801 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5569:Myl2
|
UTSW |
5 |
122,244,783 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5782:Myl2
|
UTSW |
5 |
122,242,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Myl2
|
UTSW |
5 |
122,244,791 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6560:Myl2
|
UTSW |
5 |
122,240,834 (GRCm39) |
missense |
probably null |
1.00 |
|
R7163:Myl2
|
UTSW |
5 |
122,239,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Myl2
|
UTSW |
5 |
122,239,726 (GRCm39) |
missense |
|
|
|
R7951:Myl2
|
UTSW |
5 |
122,244,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8682:Myl2
|
UTSW |
5 |
122,244,798 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9345:Myl2
|
UTSW |
5 |
122,242,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9501:Myl2
|
UTSW |
5 |
122,241,921 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9681:Myl2
|
UTSW |
5 |
122,240,783 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGTGTTTGATCCCGAGG -3'
(R):5'- TTGTGACCACCATCAAGCC -3'
Sequencing Primer
(F):5'- TGTTTGATCCCGAGGGCAAAG -3'
(R):5'- GTGACCACCATCAAGCCTTGTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation