Incidental Mutation 'R0926:Myh3'
| ID |
262386 |
| 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 |
039073-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R0926 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
66969126-66993117 bp(+) (GRCm39) |
| Type of Mutation |
splice site (37 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 66981340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131883
(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: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
98% (61/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,164,832 (GRCm39) |
D514G |
probably damaging |
Het |
| Acbd7 |
A |
T |
2: 3,341,478 (GRCm39) |
I41F |
possibly damaging |
Het |
| Actr8 |
G |
T |
14: 29,709,181 (GRCm39) |
V262L |
probably benign |
Het |
| Anp32e |
A |
G |
3: 95,844,454 (GRCm39) |
D108G |
probably damaging |
Het |
| Banp |
G |
A |
8: 122,747,294 (GRCm39) |
G448S |
probably benign |
Het |
| Camsap3 |
G |
A |
8: 3,637,960 (GRCm39) |
|
probably null |
Het |
| Cd22 |
C |
A |
7: 30,568,934 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
A |
T |
19: 47,951,001 (GRCm39) |
Q454L |
probably damaging |
Het |
| Cntn4 |
C |
T |
6: 106,632,542 (GRCm39) |
T522I |
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,883,829 (GRCm39) |
D233N |
unknown |
Het |
| Csmd1 |
G |
T |
8: 16,083,590 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,830,210 (GRCm39) |
P38Q |
probably damaging |
Het |
| Dnal4 |
T |
C |
15: 79,646,226 (GRCm39) |
T93A |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,367,194 (GRCm39) |
D614V |
probably damaging |
Het |
| Fcgr1 |
A |
T |
3: 96,199,682 (GRCm39) |
I75N |
possibly damaging |
Het |
| Fgd6 |
T |
A |
10: 93,970,909 (GRCm39) |
Y1229N |
probably benign |
Het |
| Fhip2a |
G |
A |
19: 57,369,522 (GRCm39) |
A383T |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,268,497 (GRCm39) |
L214R |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,602,337 (GRCm39) |
D603E |
probably damaging |
Het |
| H2-M9 |
A |
G |
17: 36,952,665 (GRCm39) |
V127A |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,782,296 (GRCm39) |
S1328T |
possibly damaging |
Het |
| Ica1l |
T |
C |
1: 60,045,456 (GRCm39) |
N269S |
probably benign |
Het |
| Il18r1 |
T |
C |
1: 40,526,188 (GRCm39) |
Y245H |
probably damaging |
Het |
| Il6ra |
A |
T |
3: 89,794,376 (GRCm39) |
V195E |
probably damaging |
Het |
| Inpp5j |
A |
G |
11: 3,451,439 (GRCm39) |
|
probably benign |
Het |
| Isy1 |
T |
C |
6: 87,796,125 (GRCm39) |
T271A |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,155,993 (GRCm39) |
Y254C |
probably damaging |
Het |
| Ly6e |
T |
G |
15: 74,830,219 (GRCm39) |
S73A |
probably damaging |
Het |
| Mcmdc2 |
T |
A |
1: 9,990,801 (GRCm39) |
L326* |
probably null |
Het |
| Muc4 |
G |
A |
16: 32,576,570 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
G |
A |
2: 25,138,360 (GRCm39) |
H409Y |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,965,234 (GRCm39) |
D1606G |
probably damaging |
Het |
| Or2t44 |
A |
G |
11: 58,677,935 (GRCm39) |
N292D |
probably damaging |
Het |
| Or3a1d |
G |
A |
11: 74,238,132 (GRCm39) |
R93C |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,892 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,092 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,554 (GRCm39) |
D68V |
probably damaging |
Het |
| Or5h18 |
A |
G |
16: 58,848,051 (GRCm39) |
I73T |
possibly damaging |
Het |
| Or5l13 |
A |
T |
2: 87,780,266 (GRCm39) |
F104I |
probably damaging |
Het |
| Paox |
C |
A |
7: 139,713,951 (GRCm39) |
T237K |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,231,243 (GRCm39) |
L4I |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,836,523 (GRCm39) |
T165S |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,290,964 (GRCm39) |
S523P |
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,338 (GRCm39) |
D1056G |
probably damaging |
Het |
| Pitpnm2 |
G |
A |
5: 124,269,272 (GRCm39) |
T450I |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,058,198 (GRCm39) |
D37G |
probably damaging |
Het |
| Prdm5 |
A |
G |
6: 65,860,531 (GRCm39) |
H221R |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,712,378 (GRCm39) |
I72N |
probably damaging |
Het |
| Rhou |
A |
G |
8: 124,387,715 (GRCm39) |
E149G |
probably damaging |
Het |
| She |
A |
G |
3: 89,758,901 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
A |
C |
1: 131,680,954 (GRCm39) |
H121P |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,979,432 (GRCm39) |
D1431G |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,965,407 (GRCm39) |
D1634V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,627,571 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
possibly damaging |
Het |
| Zcrb1 |
T |
C |
15: 93,289,409 (GRCm39) |
K51E |
probably damaging |
Het |
| Zfp110 |
C |
T |
7: 12,583,808 (GRCm39) |
Q819* |
probably null |
Het |
| Zfp616 |
A |
G |
11: 73,976,644 (GRCm39) |
N971S |
probably benign |
Het |
| Zfp827 |
A |
T |
8: 79,844,821 (GRCm39) |
T664S |
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 |
|
|
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 |
|
| Posted On |
2015-02-04 |
Incidental Mutation