Incidental Mutation 'R7498:Myh3'
ID |
581225 |
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 |
045571-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.593)
|
Stock # |
R7498 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
66969126-66993117 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66987874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 1449
(N1449S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007301
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007301]
[ENSMUST00000108689]
[ENSMUST00000165221]
|
AlphaFold |
P13541 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007301
AA Change: N1449S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000007301 Gene: ENSMUSG00000020908 AA Change: N1449S
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: N1449S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104329 Gene: ENSMUSG00000020908 AA Change: N1449S
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: N1449S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131883 Gene: ENSMUSG00000020908 AA Change: N1449S
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 |
|
Meta Mutation Damage Score |
0.1145 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
99% (75/76) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
G |
A |
2: 68,498,012 (GRCm39) |
E148K |
unknown |
Het |
Adgrl2 |
T |
A |
3: 148,564,852 (GRCm39) |
K243* |
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Ahnak |
A |
T |
19: 8,989,383 (GRCm39) |
I3556F |
probably benign |
Het |
Akap6 |
C |
T |
12: 53,189,488 (GRCm39) |
R2301* |
probably null |
Het |
Alg6 |
A |
G |
4: 99,636,933 (GRCm39) |
T305A |
probably damaging |
Het |
Alpk1 |
C |
T |
3: 127,473,427 (GRCm39) |
A859T |
probably benign |
Het |
Apba3 |
T |
A |
10: 81,104,735 (GRCm39) |
F3I |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,967,465 (GRCm39) |
E4151G |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,235,978 (GRCm39) |
F1134I |
probably benign |
Het |
C6 |
A |
T |
15: 4,792,846 (GRCm39) |
H317L |
probably damaging |
Het |
Catsperg2 |
G |
A |
7: 29,416,527 (GRCm39) |
S295L |
possibly damaging |
Het |
Ccdc142 |
G |
T |
6: 83,080,212 (GRCm39) |
R385L |
possibly damaging |
Het |
Ciz1 |
A |
T |
2: 32,261,761 (GRCm39) |
M482L |
probably benign |
Het |
Crisp3 |
A |
G |
17: 40,536,693 (GRCm39) |
|
probably null |
Het |
Dcaf15 |
G |
A |
8: 84,828,392 (GRCm39) |
P233S |
probably damaging |
Het |
Def8 |
A |
G |
8: 124,174,583 (GRCm39) |
N16S |
probably damaging |
Het |
Dnah7b |
T |
G |
1: 46,364,925 (GRCm39) |
S3569A |
probably damaging |
Het |
Dok6 |
C |
T |
18: 89,787,443 (GRCm39) |
|
probably benign |
Het |
Dop1a |
A |
T |
9: 86,376,464 (GRCm39) |
T233S |
possibly damaging |
Het |
Ep300 |
T |
A |
15: 81,524,044 (GRCm39) |
V1325D |
unknown |
Het |
Fancm |
T |
A |
12: 65,146,165 (GRCm39) |
H629Q |
probably benign |
Het |
Fbxo10 |
T |
C |
4: 45,062,194 (GRCm39) |
S111G |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,140,239 (GRCm39) |
|
probably null |
Het |
Fdx1 |
A |
C |
9: 51,859,898 (GRCm39) |
L144R |
probably damaging |
Het |
Fgfr3 |
GGACCTCTCCGTG |
GG |
5: 33,892,766 (GRCm39) |
|
probably null |
Het |
Flot2 |
G |
A |
11: 77,944,188 (GRCm39) |
|
probably null |
Het |
Fndc10 |
C |
T |
4: 155,779,195 (GRCm39) |
R80C |
probably damaging |
Het |
Fut8 |
A |
T |
12: 77,459,708 (GRCm39) |
T274S |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,763,565 (GRCm39) |
M1529V |
possibly damaging |
Het |
Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
Hdlbp |
T |
A |
1: 93,341,337 (GRCm39) |
H1007L |
probably benign |
Het |
Hmcn2 |
A |
C |
2: 31,273,487 (GRCm39) |
|
probably null |
Het |
Inhbb |
C |
T |
1: 119,345,608 (GRCm39) |
R227H |
probably damaging |
Het |
Kifc1 |
A |
G |
17: 34,102,846 (GRCm39) |
F256L |
probably benign |
Het |
Lman2 |
A |
T |
13: 55,494,790 (GRCm39) |
F326Y |
probably damaging |
Het |
Mcmdc2 |
T |
C |
1: 9,989,302 (GRCm39) |
V242A |
probably benign |
Het |
Mettl8 |
A |
C |
2: 70,795,969 (GRCm39) |
V306G |
probably damaging |
Het |
Mog |
A |
T |
17: 37,322,984 (GRCm39) |
|
probably null |
Het |
Morc2b |
G |
A |
17: 33,356,833 (GRCm39) |
A313V |
possibly damaging |
Het |
Myh8 |
C |
A |
11: 67,174,263 (GRCm39) |
T200K |
possibly damaging |
Het |
Myo16 |
T |
A |
8: 10,450,589 (GRCm39) |
H530Q |
unknown |
Het |
Neb |
C |
T |
2: 52,148,188 (GRCm39) |
R2686H |
probably damaging |
Het |
Nudt2 |
T |
C |
4: 41,480,539 (GRCm39) |
F141L |
possibly damaging |
Het |
Obscn |
G |
A |
11: 58,973,539 (GRCm39) |
H1931Y |
probably damaging |
Het |
Odad3 |
A |
G |
9: 21,913,553 (GRCm39) |
I73T |
probably damaging |
Het |
Or10al5 |
A |
G |
17: 38,063,242 (GRCm39) |
T166A |
probably damaging |
Het |
Or2d4 |
A |
T |
7: 106,543,575 (GRCm39) |
V211D |
possibly damaging |
Het |
Or5p80 |
T |
A |
7: 108,229,623 (GRCm39) |
C141* |
probably null |
Het |
Plcb1 |
T |
A |
2: 135,104,153 (GRCm39) |
L274* |
probably null |
Het |
Plcb1 |
G |
T |
2: 135,104,154 (GRCm39) |
L274F |
probably damaging |
Het |
Potefam3d |
A |
C |
8: 69,972,475 (GRCm39) |
Y91* |
probably null |
Het |
Prc1 |
C |
T |
7: 79,962,898 (GRCm39) |
T564M |
possibly damaging |
Het |
Psd4 |
G |
A |
2: 24,296,996 (GRCm39) |
R923Q |
probably damaging |
Het |
Ptprj |
G |
A |
2: 90,266,909 (GRCm39) |
Q1300* |
probably null |
Het |
Rapgef6 |
G |
T |
11: 54,510,830 (GRCm39) |
R249L |
probably damaging |
Het |
Slain1 |
G |
A |
14: 103,893,429 (GRCm39) |
|
probably null |
Het |
Slfn9 |
A |
T |
11: 82,873,013 (GRCm39) |
I630N |
probably damaging |
Het |
Smg6 |
G |
A |
11: 74,819,932 (GRCm39) |
A68T |
probably benign |
Het |
Spata31h1 |
T |
A |
10: 82,127,113 (GRCm39) |
T1966S |
probably benign |
Het |
Spef2 |
T |
A |
15: 9,727,625 (GRCm39) |
M153L |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,519,418 (GRCm39) |
M357L |
probably benign |
Het |
Tal1 |
A |
T |
4: 114,925,879 (GRCm39) |
H316L |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,497,224 (GRCm39) |
E1207G |
probably damaging |
Het |
Tmem64 |
C |
A |
4: 15,266,176 (GRCm39) |
H75Q |
probably benign |
Het |
Tor4a |
A |
G |
2: 25,085,804 (GRCm39) |
V33A |
probably benign |
Het |
Traj52 |
C |
T |
14: 54,402,818 (GRCm39) |
T15I |
|
Het |
Trim50 |
G |
A |
5: 135,392,768 (GRCm39) |
V228M |
probably benign |
Het |
Trpm1 |
A |
T |
7: 63,858,657 (GRCm39) |
I360F |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,853,484 (GRCm39) |
R1835W |
probably damaging |
Het |
Ubn1 |
T |
C |
16: 4,894,969 (GRCm39) |
S672P |
probably damaging |
Het |
Ugt2a2 |
C |
T |
5: 87,622,500 (GRCm39) |
C156Y |
probably damaging |
Het |
Wnk1 |
T |
C |
6: 119,904,157 (GRCm39) |
S2223G |
unknown |
Het |
Wnt7b |
G |
T |
15: 85,427,880 (GRCm39) |
A194E |
probably damaging |
Het |
Zmpste24 |
A |
G |
4: 120,940,028 (GRCm39) |
V206A |
probably benign |
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 |
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'- TGCTCGTGGAGAAGATTGAAAC -3'
(R):5'- CAGTCCATGTCACAATGGAGAAAC -3'
Sequencing Primer
(F):5'- CTCGTGGAGAAGATTGAAACTTAATG -3'
(R):5'- CAAATTGCTAGTGAAGTTCGGG -3'
|
Posted On |
2019-10-17 |