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: 0.547)
|
Stock # |
RF013 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
67078300-67102291 bp(+) (GRCm38) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
ATTAC to ATTACTTAC
at 67086356 bp (GRCm38)
|
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: 155,905,096 (GRCm38) |
|
probably benign |
Het |
Adamts9 |
A |
G |
6: 92,943,145 (GRCm38) |
V4A |
possibly damaging |
Het |
AI837181 |
GGC |
GGCTGC |
19: 5,425,232 (GRCm38) |
|
probably benign |
Het |
Alk |
A |
G |
17: 71,895,936 (GRCm38) |
Y1135H |
probably damaging |
Het |
Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,560,926 (GRCm38) |
|
probably benign |
Het |
Ano3 |
A |
C |
2: 110,697,036 (GRCm38) |
L609R |
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,935,830 (GRCm38) |
|
probably null |
Het |
Bltp1 |
TTAT |
TTATTATTATTATTAGTAT |
3: 37,050,757 (GRCm38) |
|
probably benign |
Het |
Card6 |
T |
C |
15: 5,100,142 (GRCm38) |
I591V |
probably benign |
Het |
Ccdc121rt2 |
T |
A |
5: 112,450,071 (GRCm38) |
N161K |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,220,716 (GRCm38) |
N1235D |
probably benign |
Het |
Cd109 |
TTAT |
TTATTTATTTATCTAT |
9: 78,712,531 (GRCm38) |
|
probably benign |
Het |
Cnpy3 |
CCT |
CCTGCT |
17: 46,736,744 (GRCm38) |
|
probably benign |
Het |
Col6a5 |
GCAGTC |
GCAGTCTCCAGTC |
9: 105,878,597 (GRCm38) |
|
probably null |
Het |
Cyb5r4 |
GACACACTGCCCAGGGA |
GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA |
9: 87,040,432 (GRCm38) |
|
probably benign |
Het |
Cyp8b1 |
A |
T |
9: 121,915,495 (GRCm38) |
M257K |
possibly damaging |
Het |
Dbf4 |
A |
T |
5: 8,397,985 (GRCm38) |
H408Q |
possibly damaging |
Het |
Defb22 |
TTGCGGCA |
TTGCGGCAGAGCTGGCCTGTGCGGCA |
2: 152,485,831 (GRCm38) |
|
probably benign |
Het |
Ercc6l2 |
A |
T |
13: 63,853,017 (GRCm38) |
T417S |
probably benign |
Het |
Exd2 |
AGCCACAG |
A |
12: 80,475,932 (GRCm38) |
|
probably null |
Het |
Fam171b |
GC |
GCAGCATC |
2: 83,812,895 (GRCm38) |
|
probably benign |
Het |
Flvcr2 |
T |
A |
12: 85,747,186 (GRCm38) |
L112Q |
probably damaging |
Het |
Flywch1 |
GTG |
GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG |
17: 23,762,175 (GRCm38) |
|
probably null |
Het |
Gabre |
TCAGGCTCAGGCT |
TCAGGCTCAGGCTCAGGCT |
X: 72,270,416 (GRCm38) |
|
probably benign |
Het |
Garin5a |
CCTGGGTCTGAGGGAGGA |
CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA |
7: 44,500,520 (GRCm38) |
|
probably null |
Het |
Gm4884 |
C |
A |
7: 41,040,809 (GRCm38) |
P43Q |
probably damaging |
Het |
Grm8 |
A |
G |
6: 27,363,780 (GRCm38) |
W579R |
probably damaging |
Het |
Hsdl2 |
AG |
AGCAGCAGCCACAGCTGCCG |
4: 59,610,657 (GRCm38) |
|
probably benign |
Het |
Ivl |
CTGCTGCTGCTGCTGT |
C |
3: 92,572,343 (GRCm38) |
|
probably benign |
Het |
Kif18b |
T |
C |
11: 102,912,366 (GRCm38) |
D506G |
probably benign |
Het |
Krtap28-10 |
AGCCAC |
AGCCACGGCCAC |
1: 83,042,135 (GRCm38) |
|
probably benign |
Het |
Krtap28-10 |
GCCACAGCCACCACA |
GCCACAGCCACCACATCCACAGCCACCACA |
1: 83,042,274 (GRCm38) |
|
probably benign |
Het |
Lama1 |
C |
A |
17: 67,781,062 (GRCm38) |
S1558R |
|
Het |
Lcmt1 |
C |
CCGCGGGGCTT |
7: 123,369,836 (GRCm38) |
|
probably null |
Het |
Lmna |
A |
G |
3: 88,484,054 (GRCm38) |
V494A |
probably benign |
Het |
Mapk6 |
CCAC |
CCACCTCAC |
9: 75,388,260 (GRCm38) |
|
probably null |
Het |
Mboat7 |
T |
A |
7: 3,691,857 (GRCm38) |
H52L |
probably damaging |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,275,966 (GRCm38) |
|
probably benign |
Het |
Morc2a |
T |
A |
11: 3,676,191 (GRCm38) |
M225K |
probably benign |
Het |
Mpdz |
G |
A |
4: 81,293,592 (GRCm38) |
A1566V |
possibly damaging |
Het |
Mpi |
T |
C |
9: 57,548,641 (GRCm38) |
D186G |
probably benign |
Het |
Mtmr12 |
C |
A |
15: 12,261,898 (GRCm38) |
N386K |
probably damaging |
Het |
Myo10 |
T |
A |
15: 25,799,479 (GRCm38) |
M1376K |
probably damaging |
Het |
Nbas |
C |
T |
12: 13,279,408 (GRCm38) |
T118I |
possibly damaging |
Het |
Nedd4l |
C |
T |
18: 65,209,680 (GRCm38) |
R755C |
probably damaging |
Het |
Nefh |
GACTTGGCCTCACCTGGG |
GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG |
11: 4,941,032 (GRCm38) |
|
probably benign |
Het |
Numa1 |
T |
C |
7: 101,999,780 (GRCm38) |
L906P |
probably damaging |
Het |
Or6s1 |
G |
A |
14: 51,071,012 (GRCm38) |
A127V |
probably damaging |
Het |
Or7h8 |
T |
C |
9: 20,212,894 (GRCm38) |
S182P |
probably benign |
Het |
Otop2 |
G |
T |
11: 115,323,666 (GRCm38) |
R83L |
probably benign |
Het |
Pmm1 |
T |
A |
15: 81,957,813 (GRCm38) |
Q62L |
probably damaging |
Het |
Pramel16 |
C |
G |
4: 143,948,908 (GRCm38) |
Q449H |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,471,170 (GRCm38) |
L206* |
probably null |
Het |
Rassf6 |
TC |
TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC |
5: 90,608,941 (GRCm38) |
|
probably benign |
Het |
Rps19 |
A |
AGAAAAT |
7: 24,889,180 (GRCm38) |
|
probably benign |
Het |
Rsrp1 |
T |
A |
4: 134,923,955 (GRCm38) |
V10E |
unknown |
Het |
Sh2d6 |
C |
T |
6: 72,516,388 (GRCm38) |
|
probably null |
Het |
Six4 |
TG |
T |
12: 73,103,582 (GRCm38) |
|
probably null |
Het |
Slc6a15 |
T |
A |
10: 103,400,216 (GRCm38) |
V264D |
probably damaging |
Het |
Snapc5 |
ATGGAAGAAGAGG |
A |
9: 64,182,211 (GRCm38) |
|
probably benign |
Het |
Sost |
A |
T |
11: 101,964,132 (GRCm38) |
I117N |
probably damaging |
Het |
Spmip5 |
A |
G |
19: 58,789,294 (GRCm38) |
F28S |
probably damaging |
Het |
Tbc1d22a |
AGGTGTGTG |
A |
15: 86,299,774 (GRCm38) |
|
probably null |
Het |
Tcaf1 |
C |
T |
6: 42,679,173 (GRCm38) |
V290I |
probably benign |
Het |
Tcof1 |
GCA |
GCACCA |
18: 60,835,743 (GRCm38) |
|
probably benign |
Het |
Tex55 |
T |
C |
16: 38,828,001 (GRCm38) |
T249A |
probably benign |
Het |
Tgfbr1 |
A |
G |
4: 47,353,354 (GRCm38) |
I15V |
unknown |
Het |
Tmem241 |
A |
T |
18: 11,983,561 (GRCm38) |
L288Q |
probably damaging |
Het |
Tnfrsf13b |
T |
G |
11: 61,141,444 (GRCm38) |
V100G |
probably benign |
Het |
Trim66 |
A |
G |
7: 109,460,753 (GRCm38) |
S809P |
probably damaging |
Het |
Tubb4a |
C |
G |
17: 57,087,464 (GRCm38) |
G17A |
possibly damaging |
Het |
Txndc16 |
A |
G |
14: 45,169,338 (GRCm38) |
V220A |
probably benign |
Het |
Zan |
T |
A |
5: 137,391,720 (GRCm38) |
Q4830L |
unknown |
Het |
|
Other mutations in Myh3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00850:Myh3
|
APN |
11 |
67,090,855 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01989:Myh3
|
APN |
11 |
67,086,655 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02097:Myh3
|
APN |
11 |
67,082,924 (GRCm38) |
missense |
probably benign |
|
IGL02197:Myh3
|
APN |
11 |
67,098,583 (GRCm38) |
missense |
probably benign |
0.05 |
IGL02458:Myh3
|
APN |
11 |
67,096,940 (GRCm38) |
missense |
possibly damaging |
0.87 |
IGL02526:Myh3
|
APN |
11 |
67,087,545 (GRCm38) |
missense |
probably benign |
0.01 |
IGL02559:Myh3
|
APN |
11 |
67,101,095 (GRCm38) |
missense |
possibly damaging |
0.94 |
IGL02600:Myh3
|
APN |
11 |
67,083,401 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02866:Myh3
|
APN |
11 |
67,089,023 (GRCm38) |
missense |
probably benign |
0.08 |
IGL02943:Myh3
|
APN |
11 |
67,091,065 (GRCm38) |
missense |
probably benign |
0.02 |
IGL03087:Myh3
|
APN |
11 |
67,090,972 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03131:Myh3
|
APN |
11 |
67,091,109 (GRCm38) |
splice site |
probably benign |
|
bud
|
UTSW |
11 |
67,096,007 (GRCm38) |
critical splice acceptor site |
probably null |
|
R0049:Myh3
|
UTSW |
11 |
67,099,672 (GRCm38) |
missense |
probably damaging |
1.00 |
R0157:Myh3
|
UTSW |
11 |
67,082,909 (GRCm38) |
missense |
probably benign |
0.00 |
R0266:Myh3
|
UTSW |
11 |
67,093,672 (GRCm38) |
missense |
possibly damaging |
0.73 |
R0352:Myh3
|
UTSW |
11 |
67,090,428 (GRCm38) |
missense |
possibly damaging |
0.79 |
R0391:Myh3
|
UTSW |
11 |
67,096,507 (GRCm38) |
splice site |
probably benign |
|
R0926:Myh3
|
UTSW |
11 |
67,090,514 (GRCm38) |
splice site |
probably null |
|
R1243:Myh3
|
UTSW |
11 |
67,090,453 (GRCm38) |
missense |
possibly damaging |
0.80 |
R1344:Myh3
|
UTSW |
11 |
67,092,332 (GRCm38) |
missense |
probably benign |
0.03 |
R1414:Myh3
|
UTSW |
11 |
67,098,665 (GRCm38) |
missense |
probably damaging |
0.98 |
R1442:Myh3
|
UTSW |
11 |
67,087,277 (GRCm38) |
missense |
possibly damaging |
0.77 |
R1470:Myh3
|
UTSW |
11 |
67,098,059 (GRCm38) |
splice site |
probably benign |
|
R1480:Myh3
|
UTSW |
11 |
67,093,545 (GRCm38) |
missense |
possibly damaging |
0.88 |
R1598:Myh3
|
UTSW |
11 |
67,093,171 (GRCm38) |
missense |
probably damaging |
1.00 |
R1620:Myh3
|
UTSW |
11 |
67,088,736 (GRCm38) |
splice site |
probably benign |
|
R1682:Myh3
|
UTSW |
11 |
67,089,065 (GRCm38) |
missense |
probably damaging |
1.00 |
R1759:Myh3
|
UTSW |
11 |
67,096,891 (GRCm38) |
missense |
probably damaging |
0.98 |
R1772:Myh3
|
UTSW |
11 |
67,099,394 (GRCm38) |
missense |
probably benign |
0.32 |
R1868:Myh3
|
UTSW |
11 |
67,085,026 (GRCm38) |
missense |
probably benign |
0.34 |
R1874:Myh3
|
UTSW |
11 |
67,093,179 (GRCm38) |
missense |
probably benign |
0.03 |
R1885:Myh3
|
UTSW |
11 |
67,086,627 (GRCm38) |
missense |
probably benign |
0.23 |
R1923:Myh3
|
UTSW |
11 |
67,080,002 (GRCm38) |
missense |
probably benign |
0.00 |
R2145:Myh3
|
UTSW |
11 |
67,091,056 (GRCm38) |
missense |
probably benign |
|
R3973:Myh3
|
UTSW |
11 |
67,096,436 (GRCm38) |
nonsense |
probably null |
|
R4410:Myh3
|
UTSW |
11 |
67,085,032 (GRCm38) |
missense |
possibly damaging |
0.71 |
R4583:Myh3
|
UTSW |
11 |
67,096,453 (GRCm38) |
nonsense |
probably null |
|
R4650:Myh3
|
UTSW |
11 |
67,086,444 (GRCm38) |
missense |
probably damaging |
1.00 |
R4822:Myh3
|
UTSW |
11 |
67,089,010 (GRCm38) |
missense |
probably benign |
|
R4836:Myh3
|
UTSW |
11 |
67,096,939 (GRCm38) |
missense |
probably benign |
0.01 |
R4898:Myh3
|
UTSW |
11 |
67,099,407 (GRCm38) |
missense |
probably benign |
0.05 |
R4946:Myh3
|
UTSW |
11 |
67,093,538 (GRCm38) |
missense |
probably benign |
|
R5506:Myh3
|
UTSW |
11 |
67,084,089 (GRCm38) |
missense |
probably damaging |
1.00 |
R5534:Myh3
|
UTSW |
11 |
67,097,044 (GRCm38) |
missense |
probably damaging |
1.00 |
R5733:Myh3
|
UTSW |
11 |
67,088,619 (GRCm38) |
missense |
probably benign |
0.24 |
R5889:Myh3
|
UTSW |
11 |
67,086,375 (GRCm38) |
missense |
probably damaging |
1.00 |
R6056:Myh3
|
UTSW |
11 |
67,087,545 (GRCm38) |
missense |
probably benign |
0.01 |
R6223:Myh3
|
UTSW |
11 |
67,098,017 (GRCm38) |
missense |
probably benign |
|
R6228:Myh3
|
UTSW |
11 |
67,087,486 (GRCm38) |
missense |
probably benign |
0.17 |
R6341:Myh3
|
UTSW |
11 |
67,082,996 (GRCm38) |
missense |
probably benign |
0.00 |
R6434:Myh3
|
UTSW |
11 |
67,082,367 (GRCm38) |
missense |
probably damaging |
1.00 |
R6533:Myh3
|
UTSW |
11 |
67,090,419 (GRCm38) |
missense |
probably damaging |
0.96 |
R6812:Myh3
|
UTSW |
11 |
67,086,402 (GRCm38) |
missense |
probably damaging |
0.99 |
R7336:Myh3
|
UTSW |
11 |
67,091,021 (GRCm38) |
missense |
probably benign |
0.13 |
R7354:Myh3
|
UTSW |
11 |
67,096,882 (GRCm38) |
missense |
probably damaging |
1.00 |
R7498:Myh3
|
UTSW |
11 |
67,097,048 (GRCm38) |
missense |
possibly damaging |
0.96 |
R7532:Myh3
|
UTSW |
11 |
67,091,095 (GRCm38) |
missense |
probably benign |
|
R7841:Myh3
|
UTSW |
11 |
67,098,692 (GRCm38) |
missense |
probably damaging |
1.00 |
R7878:Myh3
|
UTSW |
11 |
67,087,251 (GRCm38) |
missense |
probably damaging |
1.00 |
R8169:Myh3
|
UTSW |
11 |
67,089,030 (GRCm38) |
missense |
probably benign |
0.06 |
R8194:Myh3
|
UTSW |
11 |
67,092,002 (GRCm38) |
missense |
probably damaging |
1.00 |
R8215:Myh3
|
UTSW |
11 |
67,101,179 (GRCm38) |
missense |
probably damaging |
0.99 |
R8240:Myh3
|
UTSW |
11 |
67,092,370 (GRCm38) |
missense |
probably benign |
0.01 |
R8255:Myh3
|
UTSW |
11 |
67,095,022 (GRCm38) |
missense |
probably damaging |
1.00 |
R8310:Myh3
|
UTSW |
11 |
67,096,007 (GRCm38) |
critical splice acceptor site |
probably null |
|
R9103:Myh3
|
UTSW |
11 |
67,098,625 (GRCm38) |
missense |
probably benign |
0.01 |
R9249:Myh3
|
UTSW |
11 |
67,085,029 (GRCm38) |
missense |
probably benign |
0.12 |
R9307:Myh3
|
UTSW |
11 |
67,093,571 (GRCm38) |
missense |
possibly damaging |
0.57 |
R9430:Myh3
|
UTSW |
11 |
67,091,900 (GRCm38) |
missense |
possibly damaging |
0.94 |
R9529:Myh3
|
UTSW |
11 |
67,088,730 (GRCm38) |
critical splice donor site |
probably null |
|
R9558:Myh3
|
UTSW |
11 |
67,092,490 (GRCm38) |
missense |
possibly damaging |
0.89 |
R9565:Myh3
|
UTSW |
11 |
67,092,361 (GRCm38) |
nonsense |
probably null |
|
R9691:Myh3
|
UTSW |
11 |
67,101,095 (GRCm38) |
missense |
possibly damaging |
0.94 |
R9790:Myh3
|
UTSW |
11 |
67,101,179 (GRCm38) |
missense |
probably damaging |
0.99 |
R9791:Myh3
|
UTSW |
11 |
67,101,179 (GRCm38) |
missense |
probably damaging |
0.99 |
RF009:Myh3
|
UTSW |
11 |
67,086,357 (GRCm38) |
frame shift |
probably null |
|
RF009:Myh3
|
UTSW |
11 |
67,086,356 (GRCm38) |
frame shift |
probably null |
|
RF009:Myh3
|
UTSW |
11 |
67,086,355 (GRCm38) |
frame shift |
probably null |
|
RF010:Myh3
|
UTSW |
11 |
67,086,359 (GRCm38) |
frame shift |
probably null |
|
RF010:Myh3
|
UTSW |
11 |
67,086,356 (GRCm38) |
frame shift |
probably null |
|
RF015:Myh3
|
UTSW |
11 |
67,086,356 (GRCm38) |
frame shift |
probably null |
|
X0060:Myh3
|
UTSW |
11 |
67,094,998 (GRCm38) |
missense |
probably benign |
0.00 |
X0062:Myh3
|
UTSW |
11 |
67,089,116 (GRCm38) |
missense |
probably benign |
0.03 |
Z1176:Myh3
|
UTSW |
11 |
67,082,415 (GRCm38) |
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 |