Incidental Mutation 'R1598:Myh3'
| ID |
175964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myh3
|
| Ensembl Gene |
ENSMUSG00000020908 |
| Gene Name |
myosin, heavy polypeptide 3, skeletal muscle, embryonic |
| Synonyms |
Myhse, Myhs-e, MyHC-emb |
| MMRRC Submission |
039635-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R1598 (G1)
|
| Quality Score |
174 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
66969126-66993117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66983997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 987
(D987V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007301]
[ENSMUST00000108689]
[ENSMUST00000165221]
|
| AlphaFold |
P13541 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007301
AA Change: D987V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: D987V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
35 |
76 |
1.1e-14 |
PFAM |
|
MYSc
|
80 |
780 |
N/A |
SMART |
|
IQ
|
781 |
803 |
1.65e-2 |
SMART |
|
IQ
|
807 |
829 |
2.25e2 |
SMART |
|
low complexity region
|
844 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
939 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1028 |
N/A |
INTRINSIC |
|
Pfam:Myosin_tail_1
|
1069 |
1927 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108689
AA Change: D987V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: D987V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
35 |
76 |
1.1e-14 |
PFAM |
|
MYSc
|
80 |
780 |
N/A |
SMART |
|
IQ
|
781 |
803 |
1.65e-2 |
SMART |
|
IQ
|
807 |
829 |
2.25e2 |
SMART |
|
low complexity region
|
844 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
939 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1028 |
N/A |
INTRINSIC |
|
Pfam:Myosin_tail_1
|
1069 |
1927 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165221
AA Change: D987V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: D987V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
35 |
74 |
2.2e-13 |
PFAM |
|
MYSc
|
80 |
780 |
N/A |
SMART |
|
IQ
|
781 |
803 |
1.65e-2 |
SMART |
|
IQ
|
807 |
829 |
2.25e2 |
SMART |
|
Pfam:Myosin_tail_1
|
844 |
1925 |
2.1e-164 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
G |
A |
11: 80,254,838 (GRCm39) |
Q328* |
probably null |
Het |
| Aadacl4fm4 |
T |
A |
4: 144,396,994 (GRCm39) |
K246I |
possibly damaging |
Het |
| Adamts1 |
G |
A |
16: 85,595,399 (GRCm39) |
Q260* |
probably null |
Het |
| Add2 |
A |
T |
6: 86,075,628 (GRCm39) |
Y259F |
probably benign |
Het |
| Bora |
T |
C |
14: 99,305,840 (GRCm39) |
V403A |
probably benign |
Het |
| Ccnl1 |
G |
A |
3: 65,854,191 (GRCm39) |
R477W |
probably damaging |
Het |
| Cdc25a |
CG |
CGG |
9: 109,708,961 (GRCm39) |
|
probably null |
Het |
| Cdr2l |
T |
C |
11: 115,284,203 (GRCm39) |
S180P |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,385,191 (GRCm39) |
L1889Q |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,869,453 (GRCm39) |
V208A |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,877,131 (GRCm39) |
D1049G |
probably damaging |
Het |
| Coro1a |
A |
T |
7: 126,300,864 (GRCm39) |
N154K |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,474,600 (GRCm39) |
R401S |
probably benign |
Het |
| Cul7 |
A |
T |
17: 46,974,017 (GRCm39) |
Q1434L |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dars1 |
G |
T |
1: 128,301,709 (GRCm39) |
D308E |
probably benign |
Het |
| Dna2 |
T |
A |
10: 62,797,436 (GRCm39) |
F604I |
probably damaging |
Het |
| Dnah1 |
T |
G |
14: 31,023,219 (GRCm39) |
I1033L |
probably benign |
Het |
| Erlin1 |
T |
C |
19: 44,036,112 (GRCm39) |
E206G |
probably damaging |
Het |
| Esrp2 |
T |
A |
8: 106,859,905 (GRCm39) |
E345D |
probably damaging |
Het |
| Foxa1 |
T |
C |
12: 57,589,473 (GRCm39) |
D249G |
possibly damaging |
Het |
| Ghsr |
C |
A |
3: 27,426,426 (GRCm39) |
L161M |
probably benign |
Het |
| Gm57858 |
C |
T |
3: 36,073,146 (GRCm39) |
A379T |
probably damaging |
Het |
| Gpr155 |
C |
A |
2: 73,200,434 (GRCm39) |
V358F |
probably damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,553,348 (GRCm39) |
N178I |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,137,306 (GRCm39) |
I703N |
possibly damaging |
Het |
| Kctd15 |
A |
G |
7: 34,341,417 (GRCm39) |
V170A |
probably damaging |
Het |
| Klhl31 |
A |
T |
9: 77,558,298 (GRCm39) |
Y338F |
possibly damaging |
Het |
| Krt5 |
C |
T |
15: 101,620,876 (GRCm39) |
A124T |
probably benign |
Het |
| Krt72 |
T |
A |
15: 101,688,688 (GRCm39) |
I331F |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,401,490 (GRCm39) |
D388V |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,424,075 (GRCm39) |
V382A |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,852,301 (GRCm39) |
Y1024C |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,287,818 (GRCm39) |
F572L |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,646,547 (GRCm39) |
T1360A |
probably benign |
Het |
| Oog4 |
A |
G |
4: 143,164,571 (GRCm39) |
L320P |
probably damaging |
Het |
| Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
| Or5m9 |
C |
T |
2: 85,877,657 (GRCm39) |
T277I |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,688,095 (GRCm39) |
I192K |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,498,825 (GRCm39) |
N1558S |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,147,976 (GRCm39) |
E147G |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,101,026 (GRCm39) |
H410L |
probably benign |
Het |
| Plce1 |
A |
C |
19: 38,709,440 (GRCm39) |
D1098A |
probably damaging |
Het |
| Psg25 |
G |
A |
7: 18,265,928 (GRCm39) |
Q16* |
probably null |
Het |
| Psmd9 |
T |
A |
5: 123,379,980 (GRCm39) |
V133E |
probably damaging |
Het |
| Rabgap1 |
C |
T |
2: 37,451,911 (GRCm39) |
S937F |
probably damaging |
Het |
| Rbck1 |
A |
G |
2: 152,165,090 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
C |
G |
3: 95,726,051 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
A |
G |
1: 9,616,137 (GRCm39) |
N130S |
probably benign |
Het |
| Scmh1 |
A |
T |
4: 120,372,327 (GRCm39) |
I377F |
possibly damaging |
Het |
| Skor1 |
G |
T |
9: 63,053,286 (GRCm39) |
R228S |
probably damaging |
Het |
| Slc2a4 |
A |
G |
11: 69,835,844 (GRCm39) |
V335A |
probably benign |
Het |
| Slc4a9 |
G |
A |
18: 36,661,424 (GRCm39) |
W62* |
probably null |
Het |
| Styxl2 |
G |
A |
1: 165,937,828 (GRCm39) |
T77I |
probably benign |
Het |
| Taar9 |
G |
T |
10: 23,985,305 (GRCm39) |
A43D |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 98,961,243 (GRCm39) |
Y645C |
probably damaging |
Het |
| Tpcn2 |
G |
T |
7: 144,830,957 (GRCm39) |
Y129* |
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,710,388 (GRCm39) |
S278P |
possibly damaging |
Het |
| Ttc3 |
T |
C |
16: 94,223,156 (GRCm39) |
W615R |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,910,372 (GRCm39) |
V207A |
probably damaging |
Het |
| Ubr7 |
G |
T |
12: 102,736,153 (GRCm39) |
M358I |
probably damaging |
Het |
| Urb1 |
C |
A |
16: 90,574,328 (GRCm39) |
V918F |
possibly damaging |
Het |
| Vmn2r51 |
G |
A |
7: 9,839,432 (GRCm39) |
T52I |
probably benign |
Het |
| Vmn2r95 |
A |
T |
17: 18,672,575 (GRCm39) |
I771F |
probably benign |
Het |
| Wfdc16 |
T |
C |
2: 164,477,350 (GRCm39) |
S107G |
probably benign |
Het |
| Zmym2 |
A |
G |
14: 57,140,226 (GRCm39) |
T22A |
possibly damaging |
Het |
| Zmym2 |
G |
A |
14: 57,151,524 (GRCm39) |
G470R |
probably damaging |
Het |
|
| Other mutations in Myh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00850:Myh3
|
APN |
11 |
66,981,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01989:Myh3
|
APN |
11 |
66,977,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Myh3
|
APN |
11 |
66,973,750 (GRCm39) |
missense |
probably benign |
|
|
IGL02197:Myh3
|
APN |
11 |
66,989,409 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02458:Myh3
|
APN |
11 |
66,987,766 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02526:Myh3
|
APN |
11 |
66,978,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02559:Myh3
|
APN |
11 |
66,991,921 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02600:Myh3
|
APN |
11 |
66,974,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02866:Myh3
|
APN |
11 |
66,979,849 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02943:Myh3
|
APN |
11 |
66,981,891 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03087:Myh3
|
APN |
11 |
66,981,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03131:Myh3
|
APN |
11 |
66,981,935 (GRCm39) |
splice site |
probably benign |
|
|
bud
|
UTSW |
11 |
66,986,833 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0049:Myh3
|
UTSW |
11 |
66,990,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0157:Myh3
|
UTSW |
11 |
66,973,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0266:Myh3
|
UTSW |
11 |
66,984,498 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0352:Myh3
|
UTSW |
11 |
66,981,254 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0391:Myh3
|
UTSW |
11 |
66,987,333 (GRCm39) |
splice site |
probably benign |
|
|
R0926:Myh3
|
UTSW |
11 |
66,981,340 (GRCm39) |
splice site |
probably null |
|
|
R1243:Myh3
|
UTSW |
11 |
66,981,279 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1344:Myh3
|
UTSW |
11 |
66,983,158 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1414:Myh3
|
UTSW |
11 |
66,989,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1442:Myh3
|
UTSW |
11 |
66,978,103 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1470:Myh3
|
UTSW |
11 |
66,988,885 (GRCm39) |
splice site |
probably benign |
|
|
R1480:Myh3
|
UTSW |
11 |
66,984,371 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1620:Myh3
|
UTSW |
11 |
66,979,562 (GRCm39) |
splice site |
probably benign |
|
|
R1682:Myh3
|
UTSW |
11 |
66,979,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Myh3
|
UTSW |
11 |
66,987,717 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1772:Myh3
|
UTSW |
11 |
66,990,220 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1868:Myh3
|
UTSW |
11 |
66,975,852 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1874:Myh3
|
UTSW |
11 |
66,984,005 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1885:Myh3
|
UTSW |
11 |
66,977,453 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1923:Myh3
|
UTSW |
11 |
66,970,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2145:Myh3
|
UTSW |
11 |
66,981,882 (GRCm39) |
missense |
probably benign |
|
|
R3973:Myh3
|
UTSW |
11 |
66,987,262 (GRCm39) |
nonsense |
probably null |
|
|
R4410:Myh3
|
UTSW |
11 |
66,975,858 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4583:Myh3
|
UTSW |
11 |
66,987,279 (GRCm39) |
nonsense |
probably null |
|
|
R4650:Myh3
|
UTSW |
11 |
66,977,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Myh3
|
UTSW |
11 |
66,979,836 (GRCm39) |
missense |
probably benign |
|
|
R4836:Myh3
|
UTSW |
11 |
66,987,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4898:Myh3
|
UTSW |
11 |
66,990,233 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4946:Myh3
|
UTSW |
11 |
66,984,364 (GRCm39) |
missense |
probably benign |
|
|
R5506:Myh3
|
UTSW |
11 |
66,974,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Myh3
|
UTSW |
11 |
66,987,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5733:Myh3
|
UTSW |
11 |
66,979,445 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5889:Myh3
|
UTSW |
11 |
66,977,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Myh3
|
UTSW |
11 |
66,978,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6223:Myh3
|
UTSW |
11 |
66,988,843 (GRCm39) |
missense |
probably benign |
|
|
R6228:Myh3
|
UTSW |
11 |
66,978,312 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6341:Myh3
|
UTSW |
11 |
66,973,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6434:Myh3
|
UTSW |
11 |
66,973,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6533:Myh3
|
UTSW |
11 |
66,981,245 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6812:Myh3
|
UTSW |
11 |
66,977,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7336:Myh3
|
UTSW |
11 |
66,981,847 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7354:Myh3
|
UTSW |
11 |
66,987,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Myh3
|
UTSW |
11 |
66,987,874 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7532:Myh3
|
UTSW |
11 |
66,981,921 (GRCm39) |
missense |
probably benign |
|
|
R7841:Myh3
|
UTSW |
11 |
66,989,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7878:Myh3
|
UTSW |
11 |
66,978,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8169:Myh3
|
UTSW |
11 |
66,979,856 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8194:Myh3
|
UTSW |
11 |
66,982,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8215:Myh3
|
UTSW |
11 |
66,992,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8240:Myh3
|
UTSW |
11 |
66,983,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8255:Myh3
|
UTSW |
11 |
66,985,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8310:Myh3
|
UTSW |
11 |
66,986,833 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9103:Myh3
|
UTSW |
11 |
66,989,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9249:Myh3
|
UTSW |
11 |
66,975,855 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9307:Myh3
|
UTSW |
11 |
66,984,397 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9430:Myh3
|
UTSW |
11 |
66,982,726 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9529:Myh3
|
UTSW |
11 |
66,979,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9558:Myh3
|
UTSW |
11 |
66,983,316 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9565:Myh3
|
UTSW |
11 |
66,983,187 (GRCm39) |
nonsense |
probably null |
|
|
R9691:Myh3
|
UTSW |
11 |
66,991,921 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9790:Myh3
|
UTSW |
11 |
66,992,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9791:Myh3
|
UTSW |
11 |
66,992,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF009:Myh3
|
UTSW |
11 |
66,977,183 (GRCm39) |
frame shift |
probably null |
|
|
RF009:Myh3
|
UTSW |
11 |
66,977,182 (GRCm39) |
frame shift |
probably null |
|
|
RF009:Myh3
|
UTSW |
11 |
66,977,181 (GRCm39) |
frame shift |
probably null |
|
|
RF010:Myh3
|
UTSW |
11 |
66,977,185 (GRCm39) |
frame shift |
probably null |
|
|
RF010:Myh3
|
UTSW |
11 |
66,977,182 (GRCm39) |
frame shift |
probably null |
|
|
RF013:Myh3
|
UTSW |
11 |
66,977,182 (GRCm39) |
frame shift |
probably null |
|
|
RF015:Myh3
|
UTSW |
11 |
66,977,182 (GRCm39) |
frame shift |
probably null |
|
|
X0060:Myh3
|
UTSW |
11 |
66,985,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Myh3
|
UTSW |
11 |
66,979,942 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Myh3
|
UTSW |
11 |
66,973,241 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTCCATGTACTCAGTGCTAACC -3'
(R):5'- ATGCCCAGTGCTCACATCATCC -3'
Sequencing Primer
(F):5'- cctcctcttctttcctcttcttc -3'
(R):5'- AGTGCTCACATCATCCACTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation