Incidental Mutation 'RF013:Myh3'
ID |
603353 |
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 # |
RF013 (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) |
ATTAC to ATTACTTAC
at 66977182 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: 98.9%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
CCTGGGCTGCTG |
CCTGGGCTGCTGCATACTGGGCTGCTG |
4: 155,989,553 (GRCm39) |
|
probably benign |
Het |
Adamts9 |
A |
G |
6: 92,920,126 (GRCm39) |
V4A |
possibly damaging |
Het |
AI837181 |
GGC |
GGCTGC |
19: 5,475,260 (GRCm39) |
|
probably benign |
Het |
Alk |
A |
G |
17: 72,202,931 (GRCm39) |
Y1135H |
probably damaging |
Het |
Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,979 (GRCm39) |
|
probably benign |
Het |
Ano3 |
A |
C |
2: 110,527,381 (GRCm39) |
L609R |
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,771,660 (GRCm39) |
|
probably null |
Het |
Bltp1 |
TTAT |
TTATTATTATTATTAGTAT |
3: 37,104,906 (GRCm39) |
|
probably benign |
Het |
Card6 |
T |
C |
15: 5,129,624 (GRCm39) |
I591V |
probably benign |
Het |
Ccdc121rt2 |
T |
A |
5: 112,597,937 (GRCm39) |
N161K |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,368,582 (GRCm39) |
N1235D |
probably benign |
Het |
Cd109 |
TTAT |
TTATTTATTTATCTAT |
9: 78,619,813 (GRCm39) |
|
probably benign |
Het |
Cnpy3 |
CCT |
CCTGCT |
17: 47,047,670 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
GCAGTC |
GCAGTCTCCAGTC |
9: 105,755,796 (GRCm39) |
|
probably null |
Het |
Cyb5r4 |
GACACACTGCCCAGGGA |
GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA |
9: 86,922,485 (GRCm39) |
|
probably benign |
Het |
Cyp8b1 |
A |
T |
9: 121,744,561 (GRCm39) |
M257K |
possibly damaging |
Het |
Dbf4 |
A |
T |
5: 8,447,985 (GRCm39) |
H408Q |
possibly damaging |
Het |
Defb22 |
TTGCGGCA |
TTGCGGCAGAGCTGGCCTGTGCGGCA |
2: 152,327,751 (GRCm39) |
|
probably benign |
Het |
Ercc6l2 |
A |
T |
13: 64,000,831 (GRCm39) |
T417S |
probably benign |
Het |
Exd2 |
AGCCACAG |
A |
12: 80,522,706 (GRCm39) |
|
probably null |
Het |
Fam171b |
GC |
GCAGCATC |
2: 83,643,239 (GRCm39) |
|
probably benign |
Het |
Flvcr2 |
T |
A |
12: 85,793,960 (GRCm39) |
L112Q |
probably damaging |
Het |
Flywch1 |
GTG |
GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG |
17: 23,981,149 (GRCm39) |
|
probably null |
Het |
Gabre |
TCAGGCTCAGGCT |
TCAGGCTCAGGCTCAGGCT |
X: 71,314,022 (GRCm39) |
|
probably benign |
Het |
Garin5a |
CCTGGGTCTGAGGGAGGA |
CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA |
7: 44,149,944 (GRCm39) |
|
probably null |
Het |
Gm4884 |
C |
A |
7: 40,690,233 (GRCm39) |
P43Q |
probably damaging |
Het |
Grm8 |
A |
G |
6: 27,363,779 (GRCm39) |
W579R |
probably damaging |
Het |
Hsdl2 |
AG |
AGCAGCAGCCACAGCTGCCG |
4: 59,610,657 (GRCm39) |
|
probably benign |
Het |
Ivl |
CTGCTGCTGCTGCTGT |
C |
3: 92,479,650 (GRCm39) |
|
probably benign |
Het |
Kif18b |
T |
C |
11: 102,803,192 (GRCm39) |
D506G |
probably benign |
Het |
Krtap28-10 |
AGCCAC |
AGCCACGGCCAC |
1: 83,019,856 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
GCCACAGCCACCACA |
GCCACAGCCACCACATCCACAGCCACCACA |
1: 83,019,995 (GRCm39) |
|
probably benign |
Het |
Lama1 |
C |
A |
17: 68,088,057 (GRCm39) |
S1558R |
|
Het |
Lcmt1 |
C |
CCGCGGGGCTT |
7: 122,969,059 (GRCm39) |
|
probably null |
Het |
Lmna |
A |
G |
3: 88,391,361 (GRCm39) |
V494A |
probably benign |
Het |
Mapk6 |
CCAC |
CCACCTCAC |
9: 75,295,542 (GRCm39) |
|
probably null |
Het |
Mboat7 |
T |
A |
7: 3,694,856 (GRCm39) |
H52L |
probably damaging |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,183,387 (GRCm39) |
|
probably benign |
Het |
Morc2a |
T |
A |
11: 3,626,191 (GRCm39) |
M225K |
probably benign |
Het |
Mpdz |
G |
A |
4: 81,211,829 (GRCm39) |
A1566V |
possibly damaging |
Het |
Mpi |
T |
C |
9: 57,455,924 (GRCm39) |
D186G |
probably benign |
Het |
Mtmr12 |
C |
A |
15: 12,261,984 (GRCm39) |
N386K |
probably damaging |
Het |
Myo10 |
T |
A |
15: 25,799,565 (GRCm39) |
M1376K |
probably damaging |
Het |
Nbas |
C |
T |
12: 13,329,409 (GRCm39) |
T118I |
possibly damaging |
Het |
Nedd4l |
C |
T |
18: 65,342,751 (GRCm39) |
R755C |
probably damaging |
Het |
Nefh |
GACTTGGCCTCACCTGGG |
GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG |
11: 4,891,032 (GRCm39) |
|
probably benign |
Het |
Numa1 |
T |
C |
7: 101,648,987 (GRCm39) |
L906P |
probably damaging |
Het |
Or6s1 |
G |
A |
14: 51,308,469 (GRCm39) |
A127V |
probably damaging |
Het |
Or7h8 |
T |
C |
9: 20,124,190 (GRCm39) |
S182P |
probably benign |
Het |
Otop2 |
G |
T |
11: 115,214,492 (GRCm39) |
R83L |
probably benign |
Het |
Pmm1 |
T |
A |
15: 81,842,014 (GRCm39) |
Q62L |
probably damaging |
Het |
Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,301,514 (GRCm39) |
L206* |
probably null |
Het |
Rassf6 |
TC |
TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC |
5: 90,756,800 (GRCm39) |
|
probably benign |
Het |
Rps19 |
A |
AGAAAAT |
7: 24,588,605 (GRCm39) |
|
probably benign |
Het |
Rsrp1 |
T |
A |
4: 134,651,266 (GRCm39) |
V10E |
unknown |
Het |
Sh2d6 |
C |
T |
6: 72,493,371 (GRCm39) |
|
probably null |
Het |
Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
Slc6a15 |
T |
A |
10: 103,236,077 (GRCm39) |
V264D |
probably damaging |
Het |
Snapc5 |
ATGGAAGAAGAGG |
A |
9: 64,089,493 (GRCm39) |
|
probably benign |
Het |
Sost |
A |
T |
11: 101,854,958 (GRCm39) |
I117N |
probably damaging |
Het |
Spmip5 |
A |
G |
19: 58,777,726 (GRCm39) |
F28S |
probably damaging |
Het |
Tbc1d22a |
AGGTGTGTG |
A |
15: 86,183,975 (GRCm39) |
|
probably null |
Het |
Tcaf1 |
C |
T |
6: 42,656,107 (GRCm39) |
V290I |
probably benign |
Het |
Tcof1 |
GCA |
GCACCA |
18: 60,968,815 (GRCm39) |
|
probably benign |
Het |
Tex55 |
T |
C |
16: 38,648,363 (GRCm39) |
T249A |
probably benign |
Het |
Tgfbr1 |
A |
G |
4: 47,353,354 (GRCm39) |
I15V |
unknown |
Het |
Tmem241 |
A |
T |
18: 12,116,618 (GRCm39) |
L288Q |
probably damaging |
Het |
Tnfrsf13b |
T |
G |
11: 61,032,270 (GRCm39) |
V100G |
probably benign |
Het |
Trim66 |
A |
G |
7: 109,059,960 (GRCm39) |
S809P |
probably damaging |
Het |
Tubb4a |
C |
G |
17: 57,394,464 (GRCm39) |
G17A |
possibly damaging |
Het |
Txndc16 |
A |
G |
14: 45,406,795 (GRCm39) |
V220A |
probably benign |
Het |
Zan |
T |
A |
5: 137,389,982 (GRCm39) |
Q4830L |
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 |
|
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 |
|
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'- AGACTGCAGTTTCCCTTAGC -3'
(R):5'- GCAATGGAAAGAACAGCTTGTC -3'
Sequencing Primer
(F):5'- AATGCTGGGACCCTTTAATACGG -3'
(R):5'- GGAAAGAACAGCTTGTCTGCCC -3'
|
Posted On |
2019-12-04 |