Incidental Mutation 'R7878:Myh3'
| ID |
608587 |
| 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 |
045930-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R7878 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
66969126-66993117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66978077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 383
(D383G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007301]
[ENSMUST00000108689]
[ENSMUST00000165221]
|
| AlphaFold |
P13541 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007301
AA Change: D383G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: D383G
| 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 damaging
Transcript: ENSMUST00000108689
AA Change: D383G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: D383G
| 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 damaging
Transcript: ENSMUST00000165221
AA Change: D383G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: D383G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
A |
10: 20,857,330 (GRCm39) |
|
probably null |
Het |
| Ak7 |
T |
A |
12: 105,733,008 (GRCm39) |
I584N |
probably damaging |
Het |
| Akip1 |
A |
T |
7: 109,306,609 (GRCm39) |
Y102F |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,754,083 (GRCm39) |
Y588H |
probably benign |
Het |
| Arid1a |
A |
T |
4: 133,414,582 (GRCm39) |
N831K |
unknown |
Het |
| Bcl2l11 |
T |
A |
2: 127,970,608 (GRCm39) |
L19* |
probably null |
Het |
| Btn1a1 |
T |
C |
13: 23,643,214 (GRCm39) |
T412A |
possibly damaging |
Het |
| Ccbe1 |
T |
C |
18: 66,209,462 (GRCm39) |
N193D |
possibly damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,095,174 (GRCm39) |
S1975G |
probably benign |
Het |
| Cd96 |
A |
G |
16: 45,938,139 (GRCm39) |
S109P |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,149,979 (GRCm39) |
I2622S |
possibly damaging |
Het |
| Cmya5 |
G |
T |
13: 93,226,265 (GRCm39) |
T2941K |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,192,934 (GRCm39) |
Y679H |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,484,700 (GRCm39) |
V619A |
probably damaging |
Het |
| Elp5 |
T |
A |
11: 69,861,425 (GRCm39) |
I185F |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,938,917 (GRCm39) |
V55A |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,299,454 (GRCm39) |
Y985N |
probably damaging |
Het |
| Lao1 |
A |
G |
4: 118,824,619 (GRCm39) |
N234D |
probably benign |
Het |
| Lima1 |
C |
T |
15: 99,717,431 (GRCm39) |
V192I |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,338,153 (GRCm39) |
D1209A |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,338,154 (GRCm39) |
D1209Y |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,269,163 (GRCm39) |
H462R |
probably benign |
Het |
| Mab21l1 |
A |
T |
3: 55,691,438 (GRCm39) |
T342S |
probably benign |
Het |
| Mst1 |
T |
C |
9: 107,961,812 (GRCm39) |
V657A |
probably benign |
Het |
| Mtmr11 |
A |
G |
3: 96,076,515 (GRCm39) |
K490R |
probably benign |
Het |
| Nectin1 |
G |
A |
9: 43,715,198 (GRCm39) |
G478D |
probably benign |
Het |
| Nrip1 |
A |
G |
16: 76,091,554 (GRCm39) |
M1T |
probably null |
Het |
| Odad1 |
A |
G |
7: 45,573,984 (GRCm39) |
E17G |
possibly damaging |
Het |
| Odad2 |
G |
T |
18: 7,217,801 (GRCm39) |
H638N |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,267,145 (GRCm39) |
D119G |
probably damaging |
Het |
| Or52z15 |
A |
T |
7: 103,332,471 (GRCm39) |
H182L |
probably damaging |
Het |
| Pnisr |
C |
A |
4: 21,874,370 (GRCm39) |
F704L |
unknown |
Het |
| Ptpn21 |
T |
A |
12: 98,681,387 (GRCm39) |
K82N |
probably damaging |
Het |
| Pyroxd2 |
T |
G |
19: 42,731,104 (GRCm39) |
|
probably null |
Het |
| Pzp |
A |
G |
6: 128,489,274 (GRCm39) |
S446P |
possibly damaging |
Het |
| Rbck1 |
T |
A |
2: 152,160,330 (GRCm39) |
I450F |
probably damaging |
Het |
| Rnase4 |
T |
A |
14: 51,342,333 (GRCm39) |
L19Q |
probably damaging |
Het |
| Rrp9 |
A |
G |
9: 106,358,516 (GRCm39) |
E118G |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,168,005 (GRCm39) |
S169P |
probably benign |
Het |
| Sema5b |
G |
A |
16: 35,481,996 (GRCm39) |
S957N |
probably benign |
Het |
| Serpina3g |
A |
T |
12: 104,204,361 (GRCm39) |
|
probably benign |
Het |
| Skint2 |
A |
T |
4: 112,506,942 (GRCm39) |
I322F |
possibly damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,119,856 (GRCm39) |
R4385W |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,469,460 (GRCm39) |
C4471Y |
probably damaging |
Het |
| Stk16 |
T |
A |
1: 75,189,589 (GRCm39) |
L167* |
probably null |
Het |
| Tanc2 |
G |
A |
11: 105,804,241 (GRCm39) |
R245H |
|
Het |
| Tdpoz1 |
G |
A |
3: 93,578,431 (GRCm39) |
Q118* |
probably null |
Het |
| Tekt3 |
C |
T |
11: 62,961,277 (GRCm39) |
R149* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,501,564 (GRCm39) |
E1256G |
probably damaging |
Het |
| Tie1 |
G |
A |
4: 118,335,621 (GRCm39) |
R791C |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,299,411 (GRCm39) |
S1204T |
possibly damaging |
Het |
| Trim28 |
G |
T |
7: 12,758,289 (GRCm39) |
|
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,024,521 (GRCm39) |
N282S |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,640,300 (GRCm39) |
D1402E |
possibly damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,717 (GRCm39) |
T5S |
probably benign |
Het |
| Zfyve28 |
T |
A |
5: 34,356,999 (GRCm39) |
K733M |
probably 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 |
|
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 |
|
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'- CCAGATGCAATGTGAAATGGCC -3'
(R):5'- CACAGCATGGTGAACCTGTC -3'
Sequencing Primer
(F):5'- AATGTGAAATGGCCAGGGCTTTC -3'
(R):5'- GGCCAGCAAGCTCGTAAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation