Incidental Mutation 'R2033:Myh6'
| ID |
221538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myh6
|
| Ensembl Gene |
ENSMUSG00000040752 |
| Gene Name |
myosin, heavy polypeptide 6, cardiac muscle, alpha |
| Synonyms |
cardiomyopathy, hypertrophic 1, Myhca, Myhc-a, alphaMHC, alpha myosin, alpha cardiac MHC, A830009F23Rik, alpha-MHC |
| MMRRC Submission |
040040-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2033 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55179378-55204384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 55201102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 120
(L120R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081857]
[ENSMUST00000111456]
[ENSMUST00000124930]
[ENSMUST00000226297]
|
| AlphaFold |
Q02566 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081857
AA Change: L120R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: L120R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
34 |
73 |
1.9e-15 |
PFAM |
|
MYSc
|
79 |
781 |
N/A |
SMART |
|
IQ
|
782 |
804 |
1.15e-1 |
SMART |
|
IQ
|
808 |
830 |
3.32e2 |
SMART |
|
Pfam:Myosin_tail_1
|
845 |
1926 |
2.1e-162 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111456
|
| SMART Domains |
Protein: ENSMUSP00000107083
Gene: ENSMUSG00000040752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
34 |
63 |
9.1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124930
|
| SMART Domains |
Protein: ENSMUSP00000115615
Gene: ENSMUSG00000040752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
34 |
75 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226297
AA Change: L120R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Meta Mutation Damage Score |
0.6246 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,953 (GRCm39) |
T172A |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,674,210 (GRCm39) |
|
probably null |
Het |
| Bpifc |
G |
A |
10: 85,836,496 (GRCm39) |
T3I |
possibly damaging |
Het |
| Car12 |
A |
G |
9: 66,624,840 (GRCm39) |
|
probably null |
Het |
| Ccrl2 |
A |
G |
9: 110,884,938 (GRCm39) |
F187L |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,812,812 (GRCm39) |
R544H |
probably damaging |
Het |
| Col4a3 |
T |
G |
1: 82,695,732 (GRCm39) |
|
probably benign |
Het |
| Cyb5r2 |
T |
C |
7: 107,356,114 (GRCm39) |
|
probably null |
Het |
| Elfn2 |
A |
G |
15: 78,556,096 (GRCm39) |
V817A |
probably damaging |
Het |
| Eln |
C |
T |
5: 134,738,960 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,757,645 (GRCm39) |
E1896G |
possibly damaging |
Het |
| G530012D18Rik |
CACAGA |
CA |
1: 85,504,875 (GRCm39) |
|
probably null |
Het |
| Galnt11 |
C |
T |
5: 25,452,536 (GRCm39) |
T16I |
probably damaging |
Het |
| Gars1 |
C |
T |
6: 55,054,708 (GRCm39) |
H672Y |
probably benign |
Het |
| Gpr155 |
T |
A |
2: 73,178,526 (GRCm39) |
H726L |
probably benign |
Het |
| Inpp1 |
T |
A |
1: 52,829,332 (GRCm39) |
N229I |
possibly damaging |
Het |
| Isg20 |
A |
C |
7: 78,566,281 (GRCm39) |
I77L |
probably damaging |
Het |
| Kit |
G |
C |
5: 75,797,977 (GRCm39) |
D422H |
possibly damaging |
Het |
| Lonp2 |
A |
G |
8: 87,435,570 (GRCm39) |
E602G |
possibly damaging |
Het |
| Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,733,925 (GRCm39) |
|
probably null |
Het |
| Nphs2 |
T |
C |
1: 156,151,308 (GRCm39) |
V249A |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,224,648 (GRCm39) |
K342E |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Nudt18 |
G |
T |
14: 70,817,056 (GRCm39) |
G162V |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,040,278 (GRCm39) |
D248G |
probably benign |
Het |
| Or1e30 |
T |
C |
11: 73,678,264 (GRCm39) |
S167P |
probably benign |
Het |
| Or4c119 |
A |
G |
2: 88,987,498 (GRCm39) |
V7A |
probably damaging |
Het |
| Or51d1 |
A |
G |
7: 102,348,369 (GRCm39) |
E308G |
probably benign |
Het |
| Or51h5 |
T |
C |
7: 102,577,615 (GRCm39) |
V260A |
probably benign |
Het |
| Or8b3 |
G |
T |
9: 38,314,669 (GRCm39) |
M166I |
probably damaging |
Het |
| Pde4b |
G |
T |
4: 102,462,492 (GRCm39) |
D723Y |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,915 (GRCm39) |
E917G |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,505,216 (GRCm39) |
|
probably benign |
Het |
| Ptp4a3 |
A |
G |
15: 73,625,618 (GRCm39) |
Y21C |
probably damaging |
Het |
| Ptprk |
C |
A |
10: 28,468,763 (GRCm39) |
|
probably benign |
Het |
| Rfesd |
C |
A |
13: 76,150,991 (GRCm39) |
|
probably null |
Het |
| Rtel1 |
A |
T |
2: 180,993,656 (GRCm39) |
K592* |
probably null |
Het |
| Siah1a |
T |
A |
8: 87,451,898 (GRCm39) |
K195N |
probably damaging |
Het |
| Slc5a5 |
G |
T |
8: 71,341,231 (GRCm39) |
D369E |
probably damaging |
Het |
| Slc6a6 |
A |
T |
6: 91,701,891 (GRCm39) |
I100F |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,467,781 (GRCm39) |
I913V |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,800,235 (GRCm39) |
S248P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,211,193 (GRCm39) |
H149Y |
probably damaging |
Het |
| Taar5 |
T |
C |
10: 23,846,992 (GRCm39) |
I130T |
possibly damaging |
Het |
| Tmem132b |
G |
T |
5: 125,826,353 (GRCm39) |
V448F |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,685,154 (GRCm39) |
N888K |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,588,896 (GRCm39) |
N742S |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,637,330 (GRCm39) |
T112A |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,259,439 (GRCm39) |
L117Q |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,819 (GRCm39) |
M94L |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,327,653 (GRCm39) |
T754A |
probably benign |
Het |
|
| Other mutations in Myh6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Myh6
|
APN |
14 |
55,184,450 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL00401:Myh6
|
APN |
14 |
55,190,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01062:Myh6
|
APN |
14 |
55,189,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01300:Myh6
|
APN |
14 |
55,200,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01688:Myh6
|
APN |
14 |
55,201,417 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01695:Myh6
|
APN |
14 |
55,194,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01762:Myh6
|
APN |
14 |
55,199,538 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01803:Myh6
|
APN |
14 |
55,182,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02079:Myh6
|
APN |
14 |
55,187,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02315:Myh6
|
APN |
14 |
55,191,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02340:Myh6
|
APN |
14 |
55,194,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02377:Myh6
|
APN |
14 |
55,181,775 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02715:Myh6
|
APN |
14 |
55,184,365 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02742:Myh6
|
APN |
14 |
55,191,381 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
P0028:Myh6
|
UTSW |
14 |
55,201,094 (GRCm39) |
missense |
probably benign |
|
|
PIT4520001:Myh6
|
UTSW |
14 |
55,187,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0058:Myh6
|
UTSW |
14 |
55,200,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Myh6
|
UTSW |
14 |
55,196,161 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0360:Myh6
|
UTSW |
14 |
55,185,804 (GRCm39) |
nonsense |
probably null |
|
|
R0364:Myh6
|
UTSW |
14 |
55,185,804 (GRCm39) |
nonsense |
probably null |
|
|
R0395:Myh6
|
UTSW |
14 |
55,183,777 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0549:Myh6
|
UTSW |
14 |
55,196,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0559:Myh6
|
UTSW |
14 |
55,196,011 (GRCm39) |
missense |
probably benign |
|
|
R0800:Myh6
|
UTSW |
14 |
55,190,735 (GRCm39) |
splice site |
probably benign |
|
|
R0892:Myh6
|
UTSW |
14 |
55,184,511 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0975:Myh6
|
UTSW |
14 |
55,190,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1051:Myh6
|
UTSW |
14 |
55,186,984 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1180:Myh6
|
UTSW |
14 |
55,181,925 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1311:Myh6
|
UTSW |
14 |
55,183,822 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1490:Myh6
|
UTSW |
14 |
55,200,175 (GRCm39) |
nonsense |
probably null |
|
|
R1531:Myh6
|
UTSW |
14 |
55,193,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Myh6
|
UTSW |
14 |
55,194,858 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1845:Myh6
|
UTSW |
14 |
55,182,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Myh6
|
UTSW |
14 |
55,190,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Myh6
|
UTSW |
14 |
55,191,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Myh6
|
UTSW |
14 |
55,191,251 (GRCm39) |
missense |
probably benign |
|
|
R2484:Myh6
|
UTSW |
14 |
55,198,699 (GRCm39) |
nonsense |
probably null |
|
|
R3155:Myh6
|
UTSW |
14 |
55,182,125 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3156:Myh6
|
UTSW |
14 |
55,182,125 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3780:Myh6
|
UTSW |
14 |
55,201,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3906:Myh6
|
UTSW |
14 |
55,194,412 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3937:Myh6
|
UTSW |
14 |
55,200,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3938:Myh6
|
UTSW |
14 |
55,200,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4236:Myh6
|
UTSW |
14 |
55,197,819 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4373:Myh6
|
UTSW |
14 |
55,199,565 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4374:Myh6
|
UTSW |
14 |
55,199,565 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4377:Myh6
|
UTSW |
14 |
55,199,565 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4798:Myh6
|
UTSW |
14 |
55,190,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Myh6
|
UTSW |
14 |
55,184,651 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4908:Myh6
|
UTSW |
14 |
55,194,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5256:Myh6
|
UTSW |
14 |
55,190,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5277:Myh6
|
UTSW |
14 |
55,194,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5356:Myh6
|
UTSW |
14 |
55,191,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5433:Myh6
|
UTSW |
14 |
55,191,381 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5616:Myh6
|
UTSW |
14 |
55,194,038 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5784:Myh6
|
UTSW |
14 |
55,190,521 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5820:Myh6
|
UTSW |
14 |
55,196,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5835:Myh6
|
UTSW |
14 |
55,187,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5922:Myh6
|
UTSW |
14 |
55,183,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5975:Myh6
|
UTSW |
14 |
55,187,965 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5988:Myh6
|
UTSW |
14 |
55,202,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6630:Myh6
|
UTSW |
14 |
55,179,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6845:Myh6
|
UTSW |
14 |
55,182,206 (GRCm39) |
missense |
probably benign |
|
|
R7009:Myh6
|
UTSW |
14 |
55,189,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7154:Myh6
|
UTSW |
14 |
55,197,764 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7293:Myh6
|
UTSW |
14 |
55,184,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Myh6
|
UTSW |
14 |
55,197,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7339:Myh6
|
UTSW |
14 |
55,199,025 (GRCm39) |
splice site |
probably null |
|
|
R7348:Myh6
|
UTSW |
14 |
55,189,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Myh6
|
UTSW |
14 |
55,190,953 (GRCm39) |
nonsense |
probably null |
|
|
R7680:Myh6
|
UTSW |
14 |
55,186,190 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7726:Myh6
|
UTSW |
14 |
55,202,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7743:Myh6
|
UTSW |
14 |
55,194,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7807:Myh6
|
UTSW |
14 |
55,179,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Myh6
|
UTSW |
14 |
55,190,508 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8145:Myh6
|
UTSW |
14 |
55,191,382 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8344:Myh6
|
UTSW |
14 |
55,190,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8407:Myh6
|
UTSW |
14 |
55,201,388 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8415:Myh6
|
UTSW |
14 |
55,181,835 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8782:Myh6
|
UTSW |
14 |
55,187,357 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9034:Myh6
|
UTSW |
14 |
55,185,596 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9354:Myh6
|
UTSW |
14 |
55,200,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9441:Myh6
|
UTSW |
14 |
55,197,771 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9449:Myh6
|
UTSW |
14 |
55,189,779 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9485:Myh6
|
UTSW |
14 |
55,181,802 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9612:Myh6
|
UTSW |
14 |
55,201,054 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9738:Myh6
|
UTSW |
14 |
55,189,759 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9742:Myh6
|
UTSW |
14 |
55,194,056 (GRCm39) |
missense |
probably benign |
|
|
R9749:Myh6
|
UTSW |
14 |
55,190,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Myh6
|
UTSW |
14 |
55,194,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGTCCAGGTGAGAATTCAGG -3'
(R):5'- TAGAGGCCTATACGGGTCAG -3'
Sequencing Primer
(F):5'- TCCAGGTGAGAATTCAGGTTGAG -3'
(R):5'- CCTATACGGGTCAGTGGACTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation