Incidental Mutation 'R0266:Myh3'
ID |
34945 |
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 |
038492-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.593)
|
Stock # |
R0266 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
66969126-66993117 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66984498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1085
(D1085G)
|
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: D1085G
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000007301 Gene: ENSMUSG00000020908 AA Change: D1085G
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: D1085G
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104329 Gene: ENSMUSG00000020908 AA Change: D1085G
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: D1085G
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000131883 Gene: ENSMUSG00000020908 AA Change: D1085G
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 |
0.2142 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.8%
|
Validation Efficiency |
100% (79/79) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
A |
G |
12: 110,635,188 (GRCm39) |
S117P |
possibly damaging |
Het |
Aars2 |
T |
C |
17: 45,818,436 (GRCm39) |
|
probably benign |
Het |
Acot11 |
T |
C |
4: 106,607,185 (GRCm39) |
D466G |
probably damaging |
Het |
Adgrd1 |
G |
A |
5: 129,216,658 (GRCm39) |
A342T |
probably benign |
Het |
Apbb2 |
A |
T |
5: 66,459,954 (GRCm39) |
N714K |
probably benign |
Het |
Aqp12 |
C |
A |
1: 92,934,572 (GRCm39) |
H150N |
possibly damaging |
Het |
Brinp3 |
T |
A |
1: 146,558,418 (GRCm39) |
L114* |
probably null |
Het |
Ccng2 |
T |
C |
5: 93,419,148 (GRCm39) |
|
probably benign |
Het |
Cd36 |
T |
A |
5: 18,003,250 (GRCm39) |
R265S |
probably benign |
Het |
Ces4a |
T |
C |
8: 105,868,598 (GRCm39) |
L104S |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,628,547 (GRCm39) |
I387V |
probably damaging |
Het |
Cul7 |
T |
A |
17: 46,965,521 (GRCm39) |
H566Q |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,486,527 (GRCm39) |
H1646L |
possibly damaging |
Het |
Dntt |
T |
C |
19: 41,047,566 (GRCm39) |
I503T |
probably damaging |
Het |
Dynlt1a |
T |
G |
17: 6,367,670 (GRCm39) |
E2D |
probably benign |
Het |
Efemp2 |
G |
T |
19: 5,528,027 (GRCm39) |
C78F |
probably damaging |
Het |
Esco1 |
T |
C |
18: 10,594,605 (GRCm39) |
E227G |
probably benign |
Het |
Fezf2 |
T |
A |
14: 12,342,607 (GRCm38) |
K419N |
probably damaging |
Het |
Gm17541 |
A |
T |
12: 4,739,487 (GRCm39) |
|
probably benign |
Het |
Gm2381 |
G |
A |
7: 42,469,372 (GRCm39) |
Q251* |
probably null |
Het |
Gm4782 |
T |
G |
6: 50,587,674 (GRCm39) |
S686R |
probably damaging |
Het |
Grin3a |
G |
A |
4: 49,665,501 (GRCm39) |
R1045* |
probably null |
Het |
Grm8 |
T |
C |
6: 27,285,895 (GRCm39) |
Y839C |
probably damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
Herc2 |
T |
A |
7: 55,856,326 (GRCm39) |
H3921Q |
probably damaging |
Het |
Hes6 |
A |
T |
1: 91,340,026 (GRCm39) |
D143E |
possibly damaging |
Het |
Hmcn2 |
A |
G |
2: 31,284,839 (GRCm39) |
E2055G |
probably benign |
Het |
Hmcn2 |
G |
A |
2: 31,335,365 (GRCm39) |
|
probably benign |
Het |
Ikzf3 |
A |
G |
11: 98,358,143 (GRCm39) |
L398P |
probably benign |
Het |
Il10ra |
A |
T |
9: 45,176,950 (GRCm39) |
I125N |
probably benign |
Het |
Kcnb2 |
G |
A |
1: 15,783,137 (GRCm39) |
|
probably benign |
Het |
Krt77 |
T |
C |
15: 101,777,813 (GRCm39) |
R81G |
possibly damaging |
Het |
Lrrc40 |
T |
A |
3: 157,747,298 (GRCm39) |
|
probably null |
Het |
Man1a2 |
C |
T |
3: 100,489,350 (GRCm39) |
R543Q |
probably damaging |
Het |
Mansc1 |
T |
C |
6: 134,587,670 (GRCm39) |
D169G |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,741,835 (GRCm39) |
S3869T |
probably damaging |
Het |
Mettl14 |
A |
T |
3: 123,176,475 (GRCm39) |
S58T |
probably benign |
Het |
Mrpl4 |
T |
C |
9: 20,914,610 (GRCm39) |
V62A |
probably benign |
Het |
Myo5c |
C |
A |
9: 75,191,498 (GRCm39) |
|
probably benign |
Het |
Naalad2 |
G |
T |
9: 18,262,239 (GRCm39) |
|
probably benign |
Het |
Nat3 |
A |
G |
8: 68,000,432 (GRCm39) |
T104A |
probably benign |
Het |
Nek4 |
A |
G |
14: 30,679,253 (GRCm39) |
E198G |
probably damaging |
Het |
Olfm1 |
A |
G |
2: 28,119,619 (GRCm39) |
Y403C |
probably damaging |
Het |
Or5w11 |
C |
A |
2: 87,459,626 (GRCm39) |
T273K |
possibly damaging |
Het |
Or7e177 |
A |
T |
9: 20,212,454 (GRCm39) |
R320S |
probably benign |
Het |
Osbpl1a |
T |
A |
18: 13,004,220 (GRCm39) |
|
probably null |
Het |
Pax7 |
G |
A |
4: 139,507,047 (GRCm39) |
S330L |
possibly damaging |
Het |
Pcdhb15 |
C |
A |
18: 37,608,329 (GRCm39) |
D520E |
probably damaging |
Het |
Pgm3 |
T |
C |
9: 86,449,586 (GRCm39) |
T145A |
probably benign |
Het |
Phox2b |
G |
A |
5: 67,253,968 (GRCm39) |
|
probably null |
Het |
Pik3r6 |
A |
T |
11: 68,417,234 (GRCm39) |
R59* |
probably null |
Het |
Pold1 |
A |
G |
7: 44,190,449 (GRCm39) |
|
probably benign |
Het |
Ppp1r21 |
T |
C |
17: 88,876,500 (GRCm39) |
|
probably benign |
Het |
Prl5a1 |
A |
G |
13: 28,333,970 (GRCm39) |
K158E |
possibly damaging |
Het |
Rag2 |
T |
G |
2: 101,460,948 (GRCm39) |
C419W |
probably damaging |
Het |
Reln |
A |
G |
5: 22,193,774 (GRCm39) |
S1395P |
probably damaging |
Het |
Retnlb |
T |
G |
16: 48,639,022 (GRCm39) |
Y74* |
probably null |
Het |
Robo3 |
A |
G |
9: 37,333,936 (GRCm39) |
S633P |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,740,104 (GRCm39) |
S3941P |
probably damaging |
Het |
Scnn1b |
A |
G |
7: 121,511,698 (GRCm39) |
N370S |
probably damaging |
Het |
Slc6a5 |
C |
A |
7: 49,588,156 (GRCm39) |
|
probably benign |
Het |
Sort1 |
T |
A |
3: 108,252,247 (GRCm39) |
N481K |
probably benign |
Het |
Sptlc3 |
T |
A |
2: 139,437,957 (GRCm39) |
I417K |
possibly damaging |
Het |
Svil |
T |
A |
18: 5,099,063 (GRCm39) |
|
probably benign |
Het |
Taf4b |
T |
C |
18: 14,946,134 (GRCm39) |
|
probably benign |
Het |
Tchp |
T |
C |
5: 114,847,394 (GRCm39) |
M71T |
possibly damaging |
Het |
Thsd4 |
T |
A |
9: 59,904,417 (GRCm39) |
H233L |
probably benign |
Het |
Tmem217 |
G |
T |
17: 29,745,573 (GRCm39) |
N52K |
possibly damaging |
Het |
Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
Uqcrfs1 |
A |
C |
13: 30,725,146 (GRCm39) |
N131K |
probably benign |
Het |
Vars1 |
T |
A |
17: 35,232,845 (GRCm39) |
S896R |
probably benign |
Het |
Vmn1r170 |
A |
T |
7: 23,305,906 (GRCm39) |
M103L |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,363 (GRCm39) |
Y409C |
probably damaging |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Wdr49 |
A |
T |
3: 75,359,103 (GRCm39) |
I8N |
possibly damaging |
Het |
Zfp648 |
T |
A |
1: 154,080,632 (GRCm39) |
Y264N |
probably damaging |
Het |
Zmym1 |
A |
C |
4: 126,941,818 (GRCm39) |
F857V |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAAGGCTTCAGGGCGGAAGAACC -3'
(R):5'- TGCAAAGTCAGCCTGACAGAGTG -3'
Sequencing Primer
(F):5'- GAAATGATGCCTCTTGCAGC -3'
(R):5'- AGCCTGACAGAGTGAGGTCC -3'
|
Posted On |
2013-05-09 |