Incidental Mutation 'R7841:Myh3'
ID |
606322 |
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 |
045895-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.556)
|
Stock # |
R7841 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
66969126-66993117 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66989518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1546
(E1546G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007301
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007301]
[ENSMUST00000108689]
[ENSMUST00000165221]
|
AlphaFold |
P13541 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007301
AA Change: E1546G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000007301 Gene: ENSMUSG00000020908 AA Change: E1546G
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: E1546G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000104329 Gene: ENSMUSG00000020908 AA Change: E1546G
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: E1546G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000131883 Gene: ENSMUSG00000020908 AA Change: E1546G
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
T |
C |
5: 103,802,806 (GRCm39) |
K16R |
possibly damaging |
Het |
2810408A11Rik |
A |
G |
11: 69,790,112 (GRCm39) |
F210L |
probably benign |
Het |
Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
B9d1 |
A |
G |
11: 61,397,192 (GRCm39) |
Y29C |
possibly damaging |
Het |
Cald1 |
T |
C |
6: 34,722,696 (GRCm39) |
F115L |
unknown |
Het |
Ccnd1 |
A |
T |
7: 144,491,718 (GRCm39) |
M107K |
probably damaging |
Het |
Ccnh |
G |
A |
13: 85,337,712 (GRCm39) |
A20T |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,126,369 (GRCm39) |
D181G |
probably benign |
Het |
Cep44 |
AACGC |
A |
8: 56,994,018 (GRCm39) |
|
probably null |
Het |
Ces2b |
A |
G |
8: 105,561,692 (GRCm39) |
D262G |
probably benign |
Het |
Cic |
A |
G |
7: 24,985,192 (GRCm39) |
Y1146C |
probably damaging |
Het |
Cmtm1 |
G |
A |
8: 105,036,108 (GRCm39) |
R174C |
possibly damaging |
Het |
Cobl |
G |
T |
11: 12,203,324 (GRCm39) |
P1126H |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,245,876 (GRCm39) |
M460K |
unknown |
Het |
Cst11 |
G |
A |
2: 148,613,227 (GRCm39) |
R33W |
possibly damaging |
Het |
Cyp19a1 |
A |
T |
9: 54,079,089 (GRCm39) |
V340E |
probably benign |
Het |
Dbt |
A |
T |
3: 116,339,746 (GRCm39) |
Q378L |
possibly damaging |
Het |
Dchs1 |
A |
G |
7: 105,412,180 (GRCm39) |
V1312A |
probably benign |
Het |
Eif3l |
T |
C |
15: 78,973,779 (GRCm39) |
M398T |
probably benign |
Het |
Faxc |
A |
G |
4: 21,958,584 (GRCm39) |
H247R |
probably benign |
Het |
Fbxl17 |
T |
C |
17: 63,794,820 (GRCm39) |
R421G |
probably damaging |
Het |
Fbxo3 |
T |
A |
2: 103,890,337 (GRCm39) |
D450E |
unknown |
Het |
Fmn1 |
T |
C |
2: 113,359,810 (GRCm39) |
|
probably null |
Het |
Foxs1 |
T |
A |
2: 152,774,907 (GRCm39) |
M49L |
possibly damaging |
Het |
Gucy1a2 |
A |
G |
9: 3,634,766 (GRCm39) |
E270G |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,874,695 (GRCm39) |
D1933G |
probably damaging |
Het |
Hspa4 |
G |
A |
11: 53,157,887 (GRCm39) |
A572V |
possibly damaging |
Het |
Ica1 |
T |
A |
6: 8,737,072 (GRCm39) |
D174V |
probably damaging |
Het |
Igfbp6 |
A |
T |
15: 102,056,352 (GRCm39) |
Q137L |
possibly damaging |
Het |
Il1r2 |
T |
C |
1: 40,144,628 (GRCm39) |
L105P |
probably damaging |
Het |
Iqca1 |
A |
T |
1: 89,987,337 (GRCm39) |
C72S |
|
Het |
Itgbl1 |
T |
C |
14: 124,209,645 (GRCm39) |
|
probably null |
Het |
Ivl |
T |
A |
3: 92,479,699 (GRCm39) |
Q122L |
possibly damaging |
Het |
Kdsr |
T |
C |
1: 106,671,415 (GRCm39) |
E198G |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,031,529 (GRCm39) |
T1510A |
probably benign |
Het |
Lrrc37a |
A |
T |
11: 103,391,931 (GRCm39) |
Y1165N |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,384,267 (GRCm39) |
|
probably null |
Het |
Nacad |
A |
T |
11: 6,551,031 (GRCm39) |
V720E |
probably benign |
Het |
Napa |
A |
G |
7: 15,849,559 (GRCm39) |
D257G |
possibly damaging |
Het |
Nif3l1 |
T |
C |
1: 58,487,042 (GRCm39) |
V76A |
probably damaging |
Het |
Nkapd1 |
A |
C |
9: 50,521,716 (GRCm39) |
S68R |
probably damaging |
Het |
Nphp4 |
G |
A |
4: 152,581,140 (GRCm39) |
S108N |
probably benign |
Het |
Npr1 |
A |
T |
3: 90,362,175 (GRCm39) |
L990H |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,224,372 (GRCm39) |
R322G |
unknown |
Het |
Or4a79 |
C |
A |
2: 89,552,309 (GRCm39) |
A49S |
probably benign |
Het |
Or4q3 |
G |
T |
14: 50,583,285 (GRCm39) |
Q174K |
probably benign |
Het |
Or52n2c |
T |
A |
7: 104,574,066 (GRCm39) |
I302F |
possibly damaging |
Het |
Or8c14-ps1 |
T |
G |
9: 38,101,777 (GRCm39) |
M252R |
unknown |
Het |
Or8c19-ps1 |
T |
A |
9: 38,220,817 (GRCm39) |
V242E |
unknown |
Het |
Ovch2 |
G |
T |
7: 107,393,298 (GRCm39) |
Q192K |
probably benign |
Het |
Pcca |
T |
A |
14: 122,800,384 (GRCm39) |
D91E |
probably benign |
Het |
Pole2 |
T |
C |
12: 69,251,032 (GRCm39) |
T444A |
probably damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,173,276 (GRCm39) |
K466E |
probably benign |
Het |
Prr35 |
A |
T |
17: 26,167,458 (GRCm39) |
Y26* |
probably null |
Het |
Ptgfrn |
A |
T |
3: 100,968,126 (GRCm39) |
I489N |
probably damaging |
Het |
Rassf1 |
A |
G |
9: 107,438,744 (GRCm39) |
*341W |
probably null |
Het |
Ret |
G |
A |
6: 118,132,321 (GRCm39) |
P1040S |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Slc6a17 |
A |
T |
3: 107,384,214 (GRCm39) |
Y377N |
possibly damaging |
Het |
Snrnp200 |
C |
A |
2: 127,078,754 (GRCm39) |
D1806E |
probably benign |
Het |
Synj2 |
G |
A |
17: 6,094,419 (GRCm39) |
R1215H |
unknown |
Het |
Tbc1d5 |
TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG |
TTGCTGCTG |
17: 51,106,950 (GRCm39) |
|
probably benign |
Het |
Top2a |
A |
T |
11: 98,913,176 (GRCm39) |
D85E |
probably damaging |
Het |
Tram1l1 |
A |
T |
3: 124,115,353 (GRCm39) |
Q171L |
probably damaging |
Het |
Tram1l1 |
G |
T |
3: 124,115,354 (GRCm39) |
Q171H |
probably damaging |
Het |
Tspyl4 |
A |
G |
10: 34,174,267 (GRCm39) |
H253R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,662,490 (GRCm39) |
I23V |
|
Het |
Ubr5 |
T |
C |
15: 37,981,150 (GRCm39) |
N2376D |
|
Het |
Ugt2b37 |
T |
C |
5: 87,398,489 (GRCm39) |
N316D |
probably benign |
Het |
Usp31 |
A |
C |
7: 121,247,679 (GRCm39) |
S1255A |
probably benign |
Het |
Usp31 |
A |
T |
7: 121,276,535 (GRCm39) |
V334E |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,690,305 (GRCm39) |
|
probably null |
Het |
Vmn2r87 |
T |
A |
10: 130,333,095 (GRCm39) |
T52S |
probably benign |
Het |
Vrk2 |
C |
A |
11: 26,421,457 (GRCm39) |
L500F |
probably damaging |
Het |
Zan |
T |
A |
5: 137,435,064 (GRCm39) |
I2110F |
unknown |
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 |
|
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'- TTCACATTCCCAGGAGCCTG -3'
(R):5'- CTAAGGGTTTGCAAATTTTCAGCC -3'
Sequencing Primer
(F):5'- ATTCCCAGGAGCCTGTGCAG -3'
(R):5'- GGGTTTGCAAATTTTCAGCCGTAAAC -3'
|
Posted On |
2019-12-20 |