Incidental Mutation 'R7296:Myh7'
| ID |
571653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myh7
|
| Ensembl Gene |
ENSMUSG00000053093 |
| Gene Name |
myosin, heavy polypeptide 7, cardiac muscle, beta |
| Synonyms |
beta-MHC, MyHC-I, MYH-beta/slow, betaMHC, Myhcb, Myhc-b, B-MHC |
| MMRRC Submission |
045400-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R7296 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55208141-55232083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55227482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 318
(T318A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102803]
[ENSMUST00000153783]
[ENSMUST00000168485]
[ENSMUST00000226424]
[ENSMUST00000227518]
[ENSMUST00000228837]
|
| AlphaFold |
Q91Z83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102803
AA Change: T318A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: T318A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:Myosin_N
|
34 |
73 |
3.8e-16 |
PFAM |
|
MYSc
|
79 |
779 |
N/A |
SMART |
|
IQ
|
780 |
802 |
2.5e-2 |
SMART |
|
Pfam:Myosin_tail_1
|
843 |
1924 |
5.6e-168 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153783
|
| SMART Domains |
Protein: ENSMUSP00000116595
Gene: ENSMUSG00000053093
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:Myosin_N
|
34 |
61 |
8.8e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168485
AA Change: T318A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: T318A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:Myosin_N
|
34 |
75 |
1.6e-17 |
PFAM |
|
MYSc
|
79 |
779 |
N/A |
SMART |
|
IQ
|
780 |
802 |
2.5e-2 |
SMART |
|
PDB:2FXO|D
|
838 |
963 |
6e-53 |
PDB |
|
Pfam:Myosin_tail_1
|
1068 |
1926 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226424
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227518
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228837
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (85/87) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
T |
A |
1: 57,422,302 (GRCm39) |
M226K |
probably benign |
Het |
| 4921524L21Rik |
T |
G |
18: 6,626,385 (GRCm39) |
S132R |
probably damaging |
Het |
| A4gnt |
T |
G |
9: 99,502,335 (GRCm39) |
I165S |
probably damaging |
Het |
| Abca14 |
G |
A |
7: 119,877,534 (GRCm39) |
D1061N |
probably benign |
Het |
| Abcc9 |
G |
A |
6: 142,617,319 (GRCm39) |
P582S |
probably damaging |
Het |
| Abhd5 |
G |
A |
9: 122,208,638 (GRCm39) |
V343I |
probably benign |
Het |
| Adam6a |
C |
T |
12: 113,509,192 (GRCm39) |
R522C |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,385,590 (GRCm39) |
R313H |
probably damaging |
Het |
| Aplf |
G |
A |
6: 87,623,197 (GRCm39) |
T315I |
probably damaging |
Het |
| Asic5 |
C |
T |
3: 81,928,383 (GRCm39) |
P491S |
probably benign |
Het |
| Atp5f1b |
T |
C |
10: 127,921,391 (GRCm39) |
Y230H |
probably benign |
Het |
| B4galt6 |
A |
T |
18: 20,861,099 (GRCm39) |
I51N |
probably damaging |
Het |
| Bmal2 |
G |
A |
6: 146,723,632 (GRCm39) |
V321I |
not run |
Het |
| C4b |
A |
G |
17: 34,962,633 (GRCm39) |
L23S |
probably damaging |
Het |
| Cables2 |
A |
G |
2: 179,902,129 (GRCm39) |
V410A |
|
Het |
| Ccdc168 |
T |
A |
1: 44,100,076 (GRCm39) |
K341* |
probably null |
Het |
| Cdyl |
A |
G |
13: 36,047,378 (GRCm39) |
M489V |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,096,996 (GRCm39) |
M40T |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,589,348 (GRCm39) |
Y1069C |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,755,708 (GRCm39) |
M194V |
probably benign |
Het |
| Colec11 |
T |
A |
12: 28,644,714 (GRCm39) |
D260V |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,653,699 (GRCm39) |
T1036A |
possibly damaging |
Het |
| Cux2 |
T |
C |
5: 121,999,319 (GRCm39) |
D1207G |
probably benign |
Het |
| Cyp2d34 |
G |
T |
15: 82,501,436 (GRCm39) |
N297K |
possibly damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,713,861 (GRCm39) |
Y1643C |
unknown |
Het |
| Dnmt3c |
A |
G |
2: 153,556,946 (GRCm39) |
T288A |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,162,245 (GRCm39) |
F1842I |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,083,880 (GRCm39) |
I740V |
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,736,201 (GRCm39) |
M778L |
probably benign |
Het |
| Eri2 |
A |
T |
7: 119,385,739 (GRCm39) |
L254* |
probably null |
Het |
| Fam43b |
A |
G |
4: 138,123,152 (GRCm39) |
F56S |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 38,943,294 (GRCm39) |
S729* |
probably null |
Het |
| Fbxw22 |
C |
A |
9: 109,211,143 (GRCm39) |
W386L |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,879,909 (GRCm39) |
C254* |
probably null |
Het |
| Fgd6 |
C |
A |
10: 93,975,743 (GRCm39) |
T1386K |
probably benign |
Het |
| Fkbp7 |
G |
T |
2: 76,502,108 (GRCm39) |
D98E |
possibly damaging |
Het |
| Hectd1 |
C |
T |
12: 51,832,635 (GRCm39) |
C913Y |
possibly damaging |
Het |
| Hgf |
T |
A |
5: 16,769,841 (GRCm39) |
M105K |
probably benign |
Het |
| Icam1 |
A |
C |
9: 20,930,311 (GRCm39) |
D55A |
probably benign |
Het |
| Itga2 |
A |
C |
13: 114,993,930 (GRCm39) |
|
probably null |
Het |
| Kcnj5 |
A |
C |
9: 32,234,045 (GRCm39) |
L90R |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,808,555 (GRCm39) |
N226I |
possibly damaging |
Het |
| Krt1 |
T |
A |
15: 101,759,064 (GRCm39) |
R33S |
unknown |
Het |
| L3mbtl3 |
T |
A |
10: 26,158,728 (GRCm39) |
D615V |
unknown |
Het |
| Lrp2 |
T |
A |
2: 69,312,725 (GRCm39) |
Y2521F |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,408,825 (GRCm39) |
N589I |
probably damaging |
Het |
| Metap1d |
G |
C |
2: 71,337,129 (GRCm39) |
G14A |
probably benign |
Het |
| Mfap5 |
T |
A |
6: 122,505,381 (GRCm39) |
D162E |
probably benign |
Het |
| Mixl1 |
T |
C |
1: 180,524,523 (GRCm39) |
I19V |
probably benign |
Het |
| Mtrr |
G |
T |
13: 68,716,979 (GRCm39) |
Y411* |
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,349,383 (GRCm39) |
Y2348* |
probably null |
Het |
| Nhsl3 |
A |
G |
4: 129,119,211 (GRCm39) |
Y170H |
probably damaging |
Het |
| Niban2 |
T |
C |
2: 32,812,654 (GRCm39) |
S468P |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,781,454 (GRCm39) |
S668G |
probably damaging |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,406,052 (GRCm39) |
V208E |
probably damaging |
Het |
| Or12j2 |
A |
T |
7: 139,916,654 (GRCm39) |
D293V |
possibly damaging |
Het |
| Or4c117 |
C |
A |
2: 88,955,180 (GRCm39) |
R298S |
probably benign |
Het |
| Pcna |
A |
G |
2: 132,094,797 (GRCm39) |
S54P |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,391,364 (GRCm39) |
T570A |
probably damaging |
Het |
| Phf21b |
A |
T |
15: 84,739,918 (GRCm39) |
M1K |
probably null |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prob1 |
A |
G |
18: 35,786,352 (GRCm39) |
F634S |
possibly damaging |
Het |
| Prss50 |
A |
G |
9: 110,690,357 (GRCm39) |
T167A |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,816,692 (GRCm39) |
V249A |
probably damaging |
Het |
| Rai1 |
G |
A |
11: 60,079,499 (GRCm39) |
V1188I |
probably benign |
Het |
| Ric1 |
G |
A |
19: 29,561,978 (GRCm39) |
|
probably null |
Het |
| Robo1 |
C |
T |
16: 72,786,519 (GRCm39) |
Q844* |
probably null |
Het |
| Rpn1 |
A |
G |
6: 88,061,619 (GRCm39) |
D36G |
possibly damaging |
Het |
| Serpinb1b |
A |
T |
13: 33,277,810 (GRCm39) |
M348L |
probably benign |
Het |
| Setd4 |
T |
C |
16: 93,380,830 (GRCm39) |
|
probably null |
Het |
| Setd5 |
T |
G |
6: 113,124,518 (GRCm39) |
S1124A |
probably benign |
Het |
| Slc35c1 |
C |
A |
2: 92,289,084 (GRCm39) |
V154F |
probably damaging |
Het |
| Slc7a6os |
G |
T |
8: 106,937,121 (GRCm39) |
S113* |
probably null |
Het |
| Syne2 |
T |
A |
12: 76,149,810 (GRCm39) |
D1787E |
probably benign |
Het |
| Tas2r144 |
A |
C |
6: 42,192,373 (GRCm39) |
I38L |
probably damaging |
Het |
| Tepsin |
G |
T |
11: 119,982,534 (GRCm39) |
T512K |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,606,586 (GRCm39) |
V1662A |
probably benign |
Het |
| Vmn1r201 |
C |
T |
13: 22,659,509 (GRCm39) |
A241V |
possibly damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,785,826 (GRCm39) |
S210T |
probably benign |
Het |
| Wdr6 |
G |
T |
9: 108,451,784 (GRCm39) |
H700N |
probably damaging |
Het |
| Zdhhc8 |
T |
C |
16: 18,052,790 (GRCm39) |
T29A |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,742,052 (GRCm39) |
I614T |
probably damaging |
Het |
| Zfp54 |
T |
A |
17: 21,653,844 (GRCm39) |
S113T |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,897,071 (GRCm39) |
C601S |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,325,146 (GRCm39) |
|
probably null |
Het |
| Zmynd8 |
T |
C |
2: 165,681,929 (GRCm39) |
T201A |
probably damaging |
Het |
|
| Other mutations in Myh7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Myh7
|
APN |
14 |
55,224,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01025:Myh7
|
APN |
14 |
55,216,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01092:Myh7
|
APN |
14 |
55,209,089 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01384:Myh7
|
APN |
14 |
55,208,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01457:Myh7
|
APN |
14 |
55,226,336 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01671:Myh7
|
APN |
14 |
55,210,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01923:Myh7
|
APN |
14 |
55,222,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02183:Myh7
|
APN |
14 |
55,212,188 (GRCm39) |
missense |
probably benign |
|
|
IGL02379:Myh7
|
APN |
14 |
55,216,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Myh7
|
APN |
14 |
55,230,276 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02898:Myh7
|
APN |
14 |
55,221,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Myh7
|
APN |
14 |
55,221,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Myh7
|
APN |
14 |
55,228,661 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03145:Myh7
|
APN |
14 |
55,220,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03250:Myh7
|
APN |
14 |
55,229,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03394:Myh7
|
APN |
14 |
55,212,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB008:Myh7
|
UTSW |
14 |
55,221,119 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
BB018:Myh7
|
UTSW |
14 |
55,221,119 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0019:Myh7
|
UTSW |
14 |
55,221,191 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0030:Myh7
|
UTSW |
14 |
55,229,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0183:Myh7
|
UTSW |
14 |
55,216,333 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0230:Myh7
|
UTSW |
14 |
55,211,390 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0295:Myh7
|
UTSW |
14 |
55,222,278 (GRCm39) |
splice site |
probably benign |
|
|
R0423:Myh7
|
UTSW |
14 |
55,216,646 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0537:Myh7
|
UTSW |
14 |
55,228,256 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0541:Myh7
|
UTSW |
14 |
55,212,158 (GRCm39) |
missense |
probably benign |
|
|
R0581:Myh7
|
UTSW |
14 |
55,222,953 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0786:Myh7
|
UTSW |
14 |
55,230,330 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0866:Myh7
|
UTSW |
14 |
55,210,596 (GRCm39) |
missense |
probably benign |
|
|
R1068:Myh7
|
UTSW |
14 |
55,224,776 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1075:Myh7
|
UTSW |
14 |
55,224,860 (GRCm39) |
missense |
probably benign |
|
|
R1124:Myh7
|
UTSW |
14 |
55,211,327 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1140:Myh7
|
UTSW |
14 |
55,210,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1260:Myh7
|
UTSW |
14 |
55,225,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1653:Myh7
|
UTSW |
14 |
55,228,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1677:Myh7
|
UTSW |
14 |
55,224,973 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1760:Myh7
|
UTSW |
14 |
55,210,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Myh7
|
UTSW |
14 |
55,210,637 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1839:Myh7
|
UTSW |
14 |
55,210,637 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2483:Myh7
|
UTSW |
14 |
55,210,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2566:Myh7
|
UTSW |
14 |
55,220,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Myh7
|
UTSW |
14 |
55,210,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3916:Myh7
|
UTSW |
14 |
55,211,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4236:Myh7
|
UTSW |
14 |
55,228,575 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4471:Myh7
|
UTSW |
14 |
55,229,311 (GRCm39) |
nonsense |
probably null |
|
|
R4700:Myh7
|
UTSW |
14 |
55,225,778 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4805:Myh7
|
UTSW |
14 |
55,222,590 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4880:Myh7
|
UTSW |
14 |
55,216,045 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4975:Myh7
|
UTSW |
14 |
55,209,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Myh7
|
UTSW |
14 |
55,210,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5004:Myh7
|
UTSW |
14 |
55,209,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5107:Myh7
|
UTSW |
14 |
55,223,881 (GRCm39) |
intron |
probably benign |
|
|
R5124:Myh7
|
UTSW |
14 |
55,223,199 (GRCm39) |
nonsense |
probably null |
|
|
R5256:Myh7
|
UTSW |
14 |
55,216,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5335:Myh7
|
UTSW |
14 |
55,224,020 (GRCm39) |
intron |
probably benign |
|
|
R5581:Myh7
|
UTSW |
14 |
55,216,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5861:Myh7
|
UTSW |
14 |
55,226,347 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5957:Myh7
|
UTSW |
14 |
55,226,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6027:Myh7
|
UTSW |
14 |
55,208,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6184:Myh7
|
UTSW |
14 |
55,226,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6232:Myh7
|
UTSW |
14 |
55,226,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6268:Myh7
|
UTSW |
14 |
55,226,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6274:Myh7
|
UTSW |
14 |
55,216,943 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6345:Myh7
|
UTSW |
14 |
55,221,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Myh7
|
UTSW |
14 |
55,226,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6641:Myh7
|
UTSW |
14 |
55,219,737 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6755:Myh7
|
UTSW |
14 |
55,229,770 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6952:Myh7
|
UTSW |
14 |
55,229,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Myh7
|
UTSW |
14 |
55,212,101 (GRCm39) |
nonsense |
probably null |
|
|
R7201:Myh7
|
UTSW |
14 |
55,228,402 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7257:Myh7
|
UTSW |
14 |
55,209,947 (GRCm39) |
splice site |
probably null |
|
|
R7709:Myh7
|
UTSW |
14 |
55,226,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7710:Myh7
|
UTSW |
14 |
55,226,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Myh7
|
UTSW |
14 |
55,226,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Myh7
|
UTSW |
14 |
55,226,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Myh7
|
UTSW |
14 |
55,226,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7858:Myh7
|
UTSW |
14 |
55,227,500 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7869:Myh7
|
UTSW |
14 |
55,226,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7870:Myh7
|
UTSW |
14 |
55,226,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Myh7
|
UTSW |
14 |
55,221,119 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7931:Myh7
|
UTSW |
14 |
55,221,119 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7936:Myh7
|
UTSW |
14 |
55,216,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8056:Myh7
|
UTSW |
14 |
55,210,776 (GRCm39) |
nonsense |
probably null |
|
|
R8061:Myh7
|
UTSW |
14 |
55,228,398 (GRCm39) |
missense |
probably benign |
|
|
R8101:Myh7
|
UTSW |
14 |
55,210,776 (GRCm39) |
nonsense |
probably null |
|
|
R8202:Myh7
|
UTSW |
14 |
55,227,497 (GRCm39) |
missense |
probably benign |
|
|
R8504:Myh7
|
UTSW |
14 |
55,227,786 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8560:Myh7
|
UTSW |
14 |
55,213,405 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8843:Myh7
|
UTSW |
14 |
55,212,752 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8903:Myh7
|
UTSW |
14 |
55,230,228 (GRCm39) |
nonsense |
probably null |
|
|
R8926:Myh7
|
UTSW |
14 |
55,222,533 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8936:Myh7
|
UTSW |
14 |
55,228,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9182:Myh7
|
UTSW |
14 |
55,226,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Myh7
|
UTSW |
14 |
55,224,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9264:Myh7
|
UTSW |
14 |
55,213,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9288:Myh7
|
UTSW |
14 |
55,222,932 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9362:Myh7
|
UTSW |
14 |
55,222,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9497:Myh7
|
UTSW |
14 |
55,217,841 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9561:Myh7
|
UTSW |
14 |
55,216,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Myh7
|
UTSW |
14 |
55,221,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9789:Myh7
|
UTSW |
14 |
55,229,384 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1192:Myh7
|
UTSW |
14 |
55,220,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTAGCATACCCTGTTCACG -3'
(R):5'- CCTTGGGCCCTATGATACTG -3'
Sequencing Primer
(F):5'- TTCACGGGGTAGATCTCCAG -3'
(R):5'- GTTCAATCTTGGGGGTCAAATCAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation