Incidental Mutation 'R6341:Myh3'
| ID |
514404 |
| 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 |
044495-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R6341 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
66969126-66993117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66973822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 165
(F165S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007301]
[ENSMUST00000108689]
[ENSMUST00000165221]
|
| AlphaFold |
P13541 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007301
AA Change: F165S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: F165S
| 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 benign
Transcript: ENSMUST00000108689
AA Change: F165S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: F165S
| 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 benign
Transcript: ENSMUST00000165221
AA Change: F165S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: F165S
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,924,364 (GRCm39) |
D658G |
possibly damaging |
Het |
| Amz2 |
A |
G |
11: 109,319,653 (GRCm39) |
H13R |
probably benign |
Het |
| Ankrd27 |
G |
T |
7: 35,326,828 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
T |
C |
5: 67,840,270 (GRCm39) |
T704A |
possibly damaging |
Het |
| Cabin1 |
A |
T |
10: 75,494,573 (GRCm39) |
M1602K |
probably damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,465,978 (GRCm39) |
S105P |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,113,366 (GRCm39) |
|
probably null |
Het |
| Cxcl10 |
T |
C |
5: 92,496,072 (GRCm39) |
I22V |
probably benign |
Het |
| Cyp2c68 |
A |
C |
19: 39,700,933 (GRCm39) |
V295G |
possibly damaging |
Het |
| Ddx10 |
A |
T |
9: 53,115,551 (GRCm39) |
D594E |
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,676,368 (GRCm39) |
|
probably null |
Het |
| Duox1 |
T |
C |
2: 122,168,202 (GRCm39) |
I1109T |
probably damaging |
Het |
| Dusp15 |
T |
C |
2: 152,788,204 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,078,193 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
T |
G |
15: 83,820,139 (GRCm39) |
Q714P |
possibly damaging |
Het |
| Erc1 |
A |
G |
6: 119,754,959 (GRCm39) |
L464P |
possibly damaging |
Het |
| Fam234a |
T |
A |
17: 26,432,667 (GRCm39) |
H494L |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,065,127 (GRCm39) |
V694A |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,763,954 (GRCm39) |
D1399G |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,144 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac3 |
A |
G |
18: 38,077,217 (GRCm39) |
L219P |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,032,022 (GRCm39) |
F52S |
probably damaging |
Het |
| Ints7 |
C |
A |
1: 191,345,239 (GRCm39) |
T643K |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,816,064 (GRCm39) |
I878M |
probably damaging |
Het |
| Itga3 |
A |
T |
11: 94,946,677 (GRCm39) |
|
probably null |
Het |
| Lrfn5 |
T |
A |
12: 61,890,368 (GRCm39) |
Y552* |
probably null |
Het |
| Mafb |
T |
C |
2: 160,208,371 (GRCm39) |
T76A |
probably damaging |
Het |
| Man2b1 |
A |
T |
8: 85,822,028 (GRCm39) |
S748C |
probably damaging |
Het |
| Mmp15 |
G |
T |
8: 96,092,091 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
T |
5: 129,679,019 (GRCm39) |
R335W |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,355,229 (GRCm39) |
D1005V |
probably damaging |
Het |
| Nacc1 |
T |
C |
8: 85,401,420 (GRCm39) |
D419G |
probably benign |
Het |
| Neb |
G |
A |
2: 52,099,486 (GRCm39) |
S4545L |
probably damaging |
Het |
| Niban3 |
C |
T |
8: 72,052,721 (GRCm39) |
P65L |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,339,768 (GRCm39) |
I106T |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or5b12 |
T |
C |
19: 12,896,843 (GRCm39) |
T277A |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,602,227 (GRCm39) |
Q2283L |
probably benign |
Het |
| Phax |
C |
T |
18: 56,706,173 (GRCm39) |
T21M |
possibly damaging |
Het |
| Pitpnm1 |
A |
T |
19: 4,152,829 (GRCm39) |
K79* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,799,201 (GRCm39) |
F2807I |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,190,572 (GRCm39) |
R427C |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,288,693 (GRCm39) |
F757L |
probably benign |
Het |
| Rad1 |
A |
G |
15: 10,492,907 (GRCm39) |
D208G |
probably damaging |
Het |
| Rangrf |
T |
A |
11: 68,863,538 (GRCm39) |
N156I |
probably benign |
Het |
| Rasl11b |
T |
C |
5: 74,359,037 (GRCm39) |
S181P |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,222,199 (GRCm39) |
|
probably null |
Het |
| Rlf |
G |
A |
4: 121,006,557 (GRCm39) |
Q808* |
probably null |
Het |
| Rogdi |
G |
T |
16: 4,831,241 (GRCm39) |
|
probably null |
Het |
| Sec24a |
A |
T |
11: 51,608,603 (GRCm39) |
V573D |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,223,615 (GRCm39) |
T200A |
probably damaging |
Het |
| Srgap2 |
C |
T |
1: 131,219,367 (GRCm39) |
R259H |
probably benign |
Het |
| Ssc5d |
T |
A |
7: 4,939,664 (GRCm39) |
V700E |
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,662,592 (GRCm39) |
H222Q |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,574,193 (GRCm39) |
D6E |
possibly damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,189,473 (GRCm39) |
R421H |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,696,935 (GRCm39) |
M62T |
probably damaging |
Het |
| Trhr |
T |
G |
15: 44,092,694 (GRCm39) |
Y310* |
probably null |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,331,353 (GRCm39) |
T1085A |
probably damaging |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,491 (GRCm39) |
H227Q |
possibly damaging |
Het |
| Vmn1r31 |
A |
T |
6: 58,448,995 (GRCm39) |
M290K |
probably benign |
Het |
| Wdr75 |
T |
C |
1: 45,841,291 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
A |
T |
6: 119,925,546 (GRCm39) |
V1306D |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,741,001 (GRCm39) |
T191A |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,567 (GRCm39) |
E265G |
probably benign |
Het |
| Zcchc9 |
A |
G |
13: 91,948,816 (GRCm39) |
F41S |
possibly damaging |
Het |
| Zfp251 |
T |
C |
15: 76,738,337 (GRCm39) |
H247R |
probably damaging |
Het |
| Zfp433 |
A |
G |
10: 81,555,957 (GRCm39) |
E152G |
probably damaging |
Het |
| Zfp770 |
A |
T |
2: 114,027,240 (GRCm39) |
S276R |
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 |
|
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'- CTGGGATATTAGTAAAGGCAACAC -3'
(R):5'- CGAGATGGTCAGTCTTTGCTTC -3'
Sequencing Primer
(F):5'- GATATTAGTAAAGGCAACACACACAC -3'
(R):5'- GCTTCTGATCCATAAGAATACGCTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation