Incidental Mutation 'RF010:Myh3'
ID |
603144 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.593)
|
Stock # |
RF010 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
66969126-66993117 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
AC to ACTTCC
at 66977185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007301
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007301]
[ENSMUST00000108689]
[ENSMUST00000165221]
|
AlphaFold |
P13541 |
Predicted Effect |
probably null
Transcript: ENSMUST00000007301
|
SMART Domains |
Protein: ENSMUSP00000007301 Gene: ENSMUSG00000020908
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 null
Transcript: ENSMUST00000108689
|
SMART Domains |
Protein: ENSMUSP00000104329 Gene: ENSMUSG00000020908
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 null
Transcript: ENSMUST00000165221
|
SMART Domains |
Protein: ENSMUSP00000131883 Gene: ENSMUSG00000020908
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: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG |
GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG |
17: 35,879,473 (GRCm39) |
|
probably benign |
Het |
Acap3 |
CCTGGGCTGCTG |
CCTGGGCTGCTGCATACTGGGCTGCTG |
4: 155,989,553 (GRCm39) |
|
probably benign |
Het |
Ankrd28 |
A |
G |
14: 31,500,943 (GRCm39) |
I16T |
probably damaging |
Het |
AY761185 |
GCACTGTGGGC |
G |
8: 21,433,927 (GRCm39) |
|
probably null |
Het |
Bend3 |
T |
A |
10: 43,386,180 (GRCm39) |
F191Y |
possibly damaging |
Het |
Calhm1 |
GTGGC |
GTGGCTGTGGCTATGGC |
19: 47,129,712 (GRCm39) |
|
probably benign |
Het |
Camkv |
CGCTGCTGC |
CGC |
9: 107,825,059 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
TCTCA |
T |
5: 123,412,224 (GRCm39) |
|
probably benign |
Het |
Chga |
GCA |
GCATCA |
12: 102,527,662 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
CTCTGGCTCTGGCTCTGGCTCTG |
C |
8: 96,030,278 (GRCm39) |
|
probably null |
Het |
Cnot3 |
T |
C |
7: 3,659,068 (GRCm39) |
V438A |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,593,790 (GRCm39) |
W710R |
probably damaging |
Het |
Dyrk1a |
A |
G |
16: 94,478,422 (GRCm39) |
S404G |
probably benign |
Het |
Efhd2 |
GCCGCC |
GCCGCCTCCGCC |
4: 141,602,075 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
GTGT |
GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT |
17: 23,981,149 (GRCm39) |
|
probably null |
Het |
Fmn2 |
T |
A |
1: 174,409,581 (GRCm39) |
S605T |
unknown |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,617 (GRCm39) |
|
probably benign |
Het |
Gabre |
GCTC |
GCTCCGTCTC |
X: 71,313,666 (GRCm39) |
|
probably benign |
Het |
Gli3 |
A |
G |
13: 15,900,954 (GRCm39) |
Y1447C |
probably damaging |
Het |
Hibch |
T |
C |
1: 52,952,891 (GRCm39) |
V297A |
probably benign |
Het |
Ifi213 |
C |
G |
1: 173,409,719 (GRCm39) |
D462H |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
Lce1m |
GCTGCTGCC |
GCTGCTGCCCCCACTGCTGCC |
3: 92,925,597 (GRCm39) |
|
probably benign |
Het |
Lpo |
A |
G |
11: 87,711,928 (GRCm39) |
V43A |
probably benign |
Het |
Map1a |
A |
AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC |
2: 121,136,799 (GRCm39) |
|
probably benign |
Het |
Mapk9 |
A |
G |
11: 49,745,083 (GRCm39) |
|
probably benign |
Het |
Mep1a |
G |
A |
17: 43,797,126 (GRCm39) |
H314Y |
probably damaging |
Het |
Nusap1 |
ACGTTAGCAGTGAGGAGCAA |
ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA |
2: 119,458,065 (GRCm39) |
|
probably benign |
Het |
Or10ag56 |
T |
A |
2: 87,139,184 (GRCm39) |
V37E |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,012,594 (GRCm39) |
Q317R |
probably benign |
Het |
Pdcd11 |
AGGAGG |
A |
19: 47,101,890 (GRCm39) |
|
probably null |
Het |
Pfkm |
T |
A |
15: 98,027,674 (GRCm39) |
I651N |
possibly damaging |
Het |
Phldb3 |
CCCCCGCCCC |
CCCCC |
7: 24,325,920 (GRCm39) |
|
probably null |
Het |
Polr1has |
CACCACCAC |
CACCACCACCACCACCACCACTACCACCAC |
17: 37,275,955 (GRCm39) |
|
probably benign |
Het |
Prkce |
T |
C |
17: 86,795,627 (GRCm39) |
V288A |
probably damaging |
Het |
Pxmp4 |
A |
G |
2: 154,434,183 (GRCm39) |
S93P |
probably damaging |
Het |
Rfc4 |
T |
C |
16: 22,946,232 (GRCm39) |
T17A |
probably benign |
Het |
Rfx4 |
CTCTCTCT |
CTCTCTCTCTCTCTCTATCTCTCT |
10: 84,694,351 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
G |
T |
2: 112,606,015 (GRCm39) |
A2415E |
probably damaging |
Het |
Sbp |
ACAAAGATGCTGACAACAAAGATGCTGACA |
ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA |
17: 24,164,325 (GRCm39) |
|
probably benign |
Het |
Sec24c |
T |
A |
14: 20,738,783 (GRCm39) |
|
probably null |
Het |
Sec63 |
C |
A |
10: 42,682,620 (GRCm39) |
A437E |
probably benign |
Het |
Six3 |
GCG |
GCGTCG |
17: 85,928,783 (GRCm39) |
|
probably benign |
Het |
Slco5a1 |
G |
A |
1: 12,942,171 (GRCm39) |
T825I |
probably damaging |
Het |
Spmap2l |
CAG |
CAGCGATCCTCCCCAGTCCCGCAAGGCGAG |
5: 77,164,274 (GRCm39) |
|
probably benign |
Het |
Stard8 |
GGA |
GGAAGA |
X: 98,110,123 (GRCm39) |
|
probably benign |
Het |
Stxbp1 |
A |
G |
2: 32,711,927 (GRCm39) |
V30A |
probably benign |
Het |
Supt20 |
AGCAGC |
AGCAGCGGCAGC |
3: 54,635,083 (GRCm39) |
|
probably benign |
Het |
Syne1 |
T |
A |
10: 5,196,386 (GRCm39) |
D3882V |
possibly damaging |
Het |
T |
A |
G |
17: 8,660,540 (GRCm39) |
T384A |
probably benign |
Het |
Tbc1d12 |
CGGGGCGG |
CG |
19: 38,825,384 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
CAG |
CAGAAG |
18: 60,968,816 (GRCm39) |
|
probably benign |
Het |
Tcstv5 |
A |
T |
13: 120,411,582 (GRCm39) |
V8E |
probably benign |
Het |
Tfeb |
GCA |
GCAACA |
17: 48,097,019 (GRCm39) |
|
probably benign |
Het |
Tfeb |
CAG |
CAGAAG |
17: 48,097,032 (GRCm39) |
|
probably benign |
Het |
Thumpd3 |
C |
T |
6: 113,033,006 (GRCm39) |
A248V |
probably damaging |
Het |
Tlcd4 |
T |
A |
3: 121,022,533 (GRCm39) |
I103L |
probably benign |
Het |
Tmem181a |
T |
C |
17: 6,330,978 (GRCm39) |
|
probably null |
Het |
Trim41 |
A |
T |
11: 48,698,165 (GRCm39) |
H600Q |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,620,820 (GRCm39) |
C147* |
probably null |
Het |
Ttll2 |
C |
T |
17: 7,618,737 (GRCm39) |
A397T |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,079,046 (GRCm39) |
L1737Q |
probably benign |
Het |
Usp47 |
T |
A |
7: 111,692,145 (GRCm39) |
V869E |
probably damaging |
Het |
Vmn1r231 |
T |
A |
17: 21,110,255 (GRCm39) |
Q220L |
probably damaging |
Het |
Vmn2r26 |
C |
T |
6: 124,016,448 (GRCm39) |
T304I |
possibly damaging |
Het |
Wrn |
T |
C |
8: 33,778,793 (GRCm39) |
N839S |
probably benign |
Het |
Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
GGCCCAGG |
GGCCCAGGAGCACGCCCAGG |
6: 125,013,451 (GRCm39) |
|
probably benign |
Het |
Zfyve26 |
C |
T |
12: 79,302,112 (GRCm39) |
C1828Y |
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 |
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 |
66,977,182 (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'- GGAGACTGCAGTTTCCCTTAG -3'
(R):5'- CTGCAATGGAAAGAACAGCTTG -3'
Sequencing Primer
(F):5'- AATGCTGGGACCCTTTAATACGG -3'
(R):5'- TGGAAAGAACAGCTTGTCTGCC -3'
|
Posted On |
2019-12-04 |