Incidental Mutation 'IGL02458:Myh3'
| ID |
294528 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.556)
|
| Stock # |
IGL02458
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
66969126-66993117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66987766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1413
(A1413V)
|
| 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: A1413V
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: A1413V
| 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: A1413V
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: A1413V
| 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: A1413V
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: A1413V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184592
|
| Coding Region Coverage |
|
| 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 |
|---|
| Adam25 |
A |
T |
8: 41,206,844 (GRCm39) |
I37L |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,474,968 (GRCm39) |
|
probably null |
Het |
| Ankrd33 |
T |
C |
15: 101,014,488 (GRCm39) |
F8L |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,852,222 (GRCm39) |
K669R |
probably benign |
Het |
| Bcor |
G |
T |
X: 11,914,749 (GRCm39) |
L1165I |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,088,871 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,875,896 (GRCm39) |
I958V |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,935,869 (GRCm39) |
K435* |
probably null |
Het |
| Chrna7 |
G |
A |
7: 62,755,842 (GRCm39) |
L235F |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,706,919 (GRCm39) |
V2065L |
unknown |
Het |
| Copb1 |
A |
T |
7: 113,846,020 (GRCm39) |
N183K |
probably benign |
Het |
| Cpn2 |
G |
A |
16: 30,079,653 (GRCm39) |
A16V |
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,502,542 (GRCm39) |
K769E |
possibly damaging |
Het |
| Deup1 |
C |
T |
9: 15,503,656 (GRCm39) |
V302M |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,927,176 (GRCm39) |
K3871E |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,004,431 (GRCm39) |
V3844A |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,657,487 (GRCm39) |
L763* |
probably null |
Het |
| Donson |
A |
T |
16: 91,478,064 (GRCm39) |
W461R |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,269,418 (GRCm39) |
I664V |
probably benign |
Het |
| Dusp8 |
T |
A |
7: 141,636,484 (GRCm39) |
T369S |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,117,422 (GRCm39) |
L56Q |
probably damaging |
Het |
| Ecd |
A |
T |
14: 20,374,545 (GRCm39) |
S532T |
probably benign |
Het |
| Frg2f1 |
G |
A |
4: 119,388,154 (GRCm39) |
T115I |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,335,735 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
T |
A |
5: 31,316,867 (GRCm39) |
|
probably null |
Het |
| Haghl |
T |
C |
17: 26,002,470 (GRCm39) |
|
probably benign |
Het |
| Hoxc8 |
A |
T |
15: 102,901,181 (GRCm39) |
N208I |
probably damaging |
Het |
| Igf2 |
T |
C |
7: 142,207,785 (GRCm39) |
D115G |
probably benign |
Het |
| Jag2 |
T |
A |
12: 112,879,613 (GRCm39) |
D385V |
probably damaging |
Het |
| Laptm4b |
A |
G |
15: 34,258,888 (GRCm39) |
H54R |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,352,117 (GRCm39) |
S640P |
probably damaging |
Het |
| Map3k8 |
A |
C |
18: 4,334,660 (GRCm39) |
V328G |
probably damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,360,686 (GRCm39) |
E388G |
probably damaging |
Het |
| Ms4a13 |
G |
A |
19: 11,149,292 (GRCm39) |
T168I |
probably benign |
Het |
| Mtg1 |
C |
A |
7: 139,730,085 (GRCm39) |
Q294K |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,801,150 (GRCm39) |
|
probably benign |
Het |
| Ogfod3 |
T |
C |
11: 121,091,749 (GRCm39) |
E119G |
probably benign |
Het |
| Or10ak9 |
A |
G |
4: 118,726,497 (GRCm39) |
N173S |
possibly damaging |
Het |
| Or2t49 |
A |
T |
11: 58,393,073 (GRCm39) |
M109K |
probably benign |
Het |
| Or4a77 |
A |
G |
2: 89,487,692 (GRCm39) |
L31P |
probably damaging |
Het |
| Or5ak20 |
G |
A |
2: 85,184,006 (GRCm39) |
T88I |
probably benign |
Het |
| Or6c210 |
A |
T |
10: 129,496,475 (GRCm39) |
I267F |
probably benign |
Het |
| Parvb |
G |
T |
15: 84,187,635 (GRCm39) |
D248Y |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,310,315 (GRCm39) |
H586L |
possibly damaging |
Het |
| Phactr2 |
T |
C |
10: 13,137,572 (GRCm39) |
E120G |
probably damaging |
Het |
| Ppfibp2 |
A |
T |
7: 107,342,171 (GRCm39) |
Q775L |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,467,443 (GRCm39) |
Y427C |
probably damaging |
Het |
| Rftn2 |
A |
T |
1: 55,250,351 (GRCm39) |
C131* |
probably null |
Het |
| Rigi |
A |
G |
4: 40,229,536 (GRCm39) |
S83P |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,556,402 (GRCm39) |
D474G |
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,156,734 (GRCm39) |
E17G |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,720,585 (GRCm39) |
M2688V |
probably benign |
Het |
| Slc22a18 |
C |
A |
7: 143,046,574 (GRCm39) |
|
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 109,961,194 (GRCm39) |
|
probably benign |
Het |
| Soat2 |
T |
C |
15: 102,070,550 (GRCm39) |
V451A |
probably damaging |
Het |
| Sptlc2 |
A |
T |
12: 87,356,667 (GRCm39) |
|
probably benign |
Het |
| Tada1 |
C |
T |
1: 166,220,203 (GRCm39) |
L308F |
probably damaging |
Het |
| Tango2 |
A |
T |
16: 18,128,731 (GRCm39) |
|
probably null |
Het |
| Tbc1d15 |
A |
T |
10: 115,065,111 (GRCm39) |
V158D |
probably damaging |
Het |
| Tmx2 |
A |
T |
2: 84,503,588 (GRCm39) |
|
probably benign |
Het |
| Tpte |
T |
A |
8: 22,795,874 (GRCm39) |
I79K |
probably benign |
Het |
| Trav6-1 |
A |
G |
14: 52,876,199 (GRCm39) |
I40V |
probably benign |
Het |
| Trgv3 |
A |
G |
13: 19,427,423 (GRCm39) |
Y102C |
probably damaging |
Het |
| Ubash3a |
T |
C |
17: 31,450,455 (GRCm39) |
S377P |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,600,446 (GRCm39) |
D575G |
probably damaging |
Het |
| Vps41 |
A |
G |
13: 19,037,649 (GRCm39) |
D704G |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,638,259 (GRCm39) |
S261P |
possibly damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,317,264 (GRCm39) |
V112A |
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 |
|
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 |
66,977,185 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation