Incidental Mutation 'R1480:Myh3'
ID |
164320 |
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 |
039533-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.593)
|
Stock # |
R1480 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
66969126-66993117 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66984371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1069
(D1069E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131883
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007301]
[ENSMUST00000108689]
[ENSMUST00000165221]
|
AlphaFold |
P13541 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007301
AA Change: D1069E
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000007301 Gene: ENSMUSG00000020908 AA Change: D1069E
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 |
possibly damaging
Transcript: ENSMUST00000108689
AA Change: D1069E
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104329 Gene: ENSMUSG00000020908 AA Change: D1069E
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 |
possibly damaging
Transcript: ENSMUST00000165221
AA Change: D1069E
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000131883 Gene: ENSMUSG00000020908 AA Change: D1069E
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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
C |
T |
2: 25,323,409 (GRCm39) |
R126C |
possibly damaging |
Het |
Abcb9 |
C |
A |
5: 124,216,889 (GRCm39) |
A443S |
probably benign |
Het |
Adcy3 |
A |
G |
12: 4,262,171 (GRCm39) |
M1074V |
probably damaging |
Het |
Adnp |
A |
G |
2: 168,025,454 (GRCm39) |
Y614H |
probably damaging |
Het |
Agbl4 |
G |
A |
4: 111,423,914 (GRCm39) |
M313I |
possibly damaging |
Het |
AI987944 |
T |
C |
7: 41,024,343 (GRCm39) |
D212G |
probably benign |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
Aplp1 |
A |
G |
7: 30,135,448 (GRCm39) |
S537P |
probably benign |
Het |
Arap2 |
T |
A |
5: 62,826,472 (GRCm39) |
R1031* |
probably null |
Het |
Arid1a |
A |
G |
4: 133,407,700 (GRCm39) |
M2269T |
unknown |
Het |
Ash1l |
C |
A |
3: 88,892,359 (GRCm39) |
P1413T |
probably damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
B3gnt5 |
A |
T |
16: 19,588,617 (GRCm39) |
I279L |
probably damaging |
Het |
Camkk2 |
T |
C |
5: 122,872,341 (GRCm39) |
|
probably null |
Het |
Ccdc158 |
T |
C |
5: 92,796,903 (GRCm39) |
K478E |
probably damaging |
Het |
Ces1f |
T |
C |
8: 94,000,782 (GRCm39) |
I121V |
probably benign |
Het |
Chad |
A |
T |
11: 94,455,963 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
T |
C |
10: 76,545,752 (GRCm39) |
I907V |
unknown |
Het |
Cpe |
T |
A |
8: 65,047,969 (GRCm39) |
T432S |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,595,325 (GRCm39) |
T1941A |
possibly damaging |
Het |
Dennd3 |
G |
A |
15: 73,404,695 (GRCm39) |
V257I |
probably benign |
Het |
Dnajc21 |
T |
C |
15: 10,460,037 (GRCm39) |
|
probably null |
Het |
Dqx1 |
A |
G |
6: 83,036,433 (GRCm39) |
R146G |
possibly damaging |
Het |
Etf1 |
T |
C |
18: 35,042,276 (GRCm39) |
E261G |
probably damaging |
Het |
Fermt2 |
C |
T |
14: 45,699,244 (GRCm39) |
V617I |
possibly damaging |
Het |
Gabarap |
T |
C |
11: 69,882,551 (GRCm39) |
Y5H |
probably damaging |
Het |
Gdap1 |
A |
G |
1: 17,215,781 (GRCm39) |
Y29C |
probably damaging |
Het |
Gimap5 |
A |
G |
6: 48,729,964 (GRCm39) |
E178G |
probably damaging |
Het |
Gpatch1 |
C |
T |
7: 35,002,763 (GRCm39) |
G249E |
probably damaging |
Het |
Gse1 |
T |
G |
8: 121,299,133 (GRCm39) |
|
probably benign |
Het |
Kifc3 |
T |
C |
8: 95,836,515 (GRCm39) |
D82G |
probably damaging |
Het |
Kit |
G |
A |
5: 75,797,977 (GRCm39) |
D422N |
probably benign |
Het |
Klhl28 |
A |
T |
12: 65,003,995 (GRCm39) |
F173I |
probably damaging |
Het |
Klk1b22 |
A |
G |
7: 43,766,278 (GRCm39) |
D253G |
possibly damaging |
Het |
Lias |
T |
A |
5: 65,549,634 (GRCm39) |
H39Q |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,793,401 (GRCm39) |
D2504V |
probably damaging |
Het |
Mgat5 |
A |
T |
1: 127,387,716 (GRCm39) |
R557S |
probably damaging |
Het |
Mrpl54 |
T |
C |
10: 81,101,489 (GRCm39) |
T91A |
probably benign |
Het |
Nek1 |
T |
A |
8: 61,577,360 (GRCm39) |
|
probably null |
Het |
Nfyc |
A |
C |
4: 120,625,921 (GRCm39) |
|
probably null |
Het |
Nol7 |
A |
T |
13: 43,552,104 (GRCm39) |
E75V |
probably damaging |
Het |
Nomo1 |
T |
A |
7: 45,710,337 (GRCm39) |
V606E |
probably damaging |
Het |
Npat |
TGGTAAAA |
T |
9: 53,474,366 (GRCm39) |
|
probably null |
Het |
Nt5c1b |
A |
G |
12: 10,424,886 (GRCm39) |
E142G |
probably damaging |
Het |
Ogdh |
A |
T |
11: 6,297,827 (GRCm39) |
|
probably null |
Het |
Or1o4 |
A |
G |
17: 37,590,636 (GRCm39) |
V225A |
probably benign |
Het |
Parg |
A |
T |
14: 31,931,585 (GRCm39) |
K402* |
probably null |
Het |
Patj |
G |
A |
4: 98,357,819 (GRCm39) |
G695E |
probably damaging |
Het |
Pde3a |
G |
A |
6: 141,433,300 (GRCm39) |
S777N |
probably benign |
Het |
Phactr2 |
G |
A |
10: 13,129,536 (GRCm39) |
P174L |
possibly damaging |
Het |
Phtf1 |
C |
T |
3: 103,894,750 (GRCm39) |
R113* |
probably null |
Het |
Pik3r4 |
G |
T |
9: 105,564,443 (GRCm39) |
V1346L |
probably benign |
Het |
Prkcb |
T |
C |
7: 122,193,865 (GRCm39) |
W525R |
probably damaging |
Het |
Prl8a1 |
C |
T |
13: 27,758,055 (GRCm39) |
R218H |
possibly damaging |
Het |
Pum3 |
T |
C |
19: 27,376,310 (GRCm39) |
E536G |
probably benign |
Het |
Rb1 |
T |
C |
14: 73,500,042 (GRCm39) |
N535S |
probably benign |
Het |
Rbm7 |
G |
T |
9: 48,401,016 (GRCm39) |
D237E |
probably benign |
Het |
Ripor1 |
T |
C |
8: 106,342,180 (GRCm39) |
V122A |
probably damaging |
Het |
Sdhc |
C |
T |
1: 170,973,370 (GRCm39) |
R11H |
probably benign |
Het |
Sema3c |
A |
G |
5: 17,887,029 (GRCm39) |
N360S |
possibly damaging |
Het |
Serpinb5 |
T |
A |
1: 106,809,437 (GRCm39) |
M281K |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,822,889 (GRCm39) |
E210G |
probably benign |
Het |
Shoc2 |
T |
C |
19: 53,976,202 (GRCm39) |
S31P |
probably benign |
Het |
Sult2a3 |
T |
A |
7: 13,856,836 (GRCm39) |
N28I |
possibly damaging |
Het |
Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
Tacc3 |
G |
A |
5: 33,821,941 (GRCm39) |
V234I |
probably benign |
Het |
Tacr1 |
A |
T |
6: 82,469,511 (GRCm39) |
M132L |
possibly damaging |
Het |
Tas2r104 |
C |
A |
6: 131,662,257 (GRCm39) |
V151F |
probably benign |
Het |
Tbc1d10b |
C |
T |
7: 126,802,950 (GRCm39) |
S326N |
probably benign |
Het |
Trim12c |
C |
T |
7: 103,997,451 (GRCm39) |
C35Y |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,755,123 (GRCm39) |
I2067T |
probably benign |
Het |
Upk1a |
T |
C |
7: 30,306,311 (GRCm39) |
I152V |
probably benign |
Het |
Vmn2r39 |
T |
G |
7: 9,017,955 (GRCm39) |
T794P |
probably damaging |
Het |
Wnk2 |
G |
A |
13: 49,210,708 (GRCm39) |
P1704S |
probably damaging |
Het |
Zfp609 |
T |
C |
9: 65,610,593 (GRCm39) |
E790G |
possibly damaging |
Het |
Zmym1 |
G |
T |
4: 126,942,405 (GRCm39) |
T563K |
probably damaging |
Het |
Zranb1 |
T |
A |
7: 132,551,745 (GRCm39) |
F132Y |
probably benign |
Het |
Zranb3 |
C |
T |
1: 128,019,599 (GRCm39) |
A48T |
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 |
|
R1598:Myh3
|
UTSW |
11 |
66,983,997 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTCTCTGAGCAAGCTCAAGAGCAAG -3'
(R):5'- TTCTGAAGCTGGAGGCTCAAGGTC -3'
Sequencing Primer
(F):5'- ATGTGAGCACTGGGCATC -3'
(R):5'- AGGCTCAAGGTCTGCTCATC -3'
|
Posted On |
2014-03-28 |