Incidental Mutation 'R2142:Myh2'
| ID |
236395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myh2
|
| Ensembl Gene |
ENSMUSG00000033196 |
| Gene Name |
myosin, heavy polypeptide 2, skeletal muscle, adult |
| Synonyms |
Myhs-f, Myhsf1, MHC2A, Myhs-f1, MyHC-IIa |
| MMRRC Submission |
040145-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R2142 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
67061853-67088343 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67080158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1124
(E1124G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018641]
[ENSMUST00000170159]
|
| AlphaFold |
G3UW82 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018641
AA Change: E1124G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: E1124G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
35 |
76 |
2.1e-16 |
PFAM |
|
MYSc
|
80 |
786 |
N/A |
SMART |
|
IQ
|
787 |
809 |
3.13e-3 |
SMART |
|
IQ
|
813 |
835 |
3.14e2 |
SMART |
|
low complexity region
|
850 |
862 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
945 |
N/A |
INTRINSIC |
|
Pfam:Myosin_tail_1
|
1075 |
1933 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170159
AA Change: E1124G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: E1124G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
35 |
74 |
1.4e-14 |
PFAM |
|
MYSc
|
80 |
786 |
N/A |
SMART |
|
IQ
|
787 |
809 |
3.13e-3 |
SMART |
|
IQ
|
813 |
835 |
3.14e2 |
SMART |
|
Pfam:Myosin_tail_1
|
850 |
1931 |
4e-166 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,523,957 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,107,290 (GRCm39) |
P640T |
probably damaging |
Het |
| Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,030,695 (GRCm39) |
E202G |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,263,777 (GRCm39) |
V77I |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,764,156 (GRCm39) |
T129A |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,059,871 (GRCm39) |
K236* |
probably null |
Het |
| Baz1b |
G |
A |
5: 135,246,129 (GRCm39) |
R526H |
probably damaging |
Het |
| Bltp3b |
A |
G |
10: 89,647,910 (GRCm39) |
D207G |
probably damaging |
Het |
| Bscl2 |
T |
C |
19: 8,822,684 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
G |
T |
11: 49,061,453 (GRCm39) |
|
probably null |
Het |
| Cd55 |
C |
T |
1: 130,377,160 (GRCm39) |
V333I |
probably benign |
Het |
| Cdh8 |
C |
A |
8: 99,838,325 (GRCm39) |
C505F |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,497,151 (GRCm39) |
E697G |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,857,468 (GRCm39) |
I38F |
probably benign |
Het |
| Cfhr2 |
T |
G |
1: 139,758,893 (GRCm39) |
R52S |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,108,594 (GRCm39) |
F145S |
possibly damaging |
Het |
| Cnksr1 |
A |
G |
4: 133,956,939 (GRCm39) |
Y488H |
probably damaging |
Het |
| Cntrl |
CAGAG |
CAG |
2: 35,012,818 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
G |
3: 130,363,965 (GRCm39) |
H546R |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,037,780 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Dck |
T |
C |
5: 88,920,582 (GRCm39) |
C101R |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,596,490 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,307,830 (GRCm39) |
M3048K |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,187 (GRCm39) |
N1116S |
probably benign |
Het |
| Efnb1 |
A |
G |
X: 98,191,123 (GRCm39) |
Y343C |
probably damaging |
Het |
| Elf2 |
A |
G |
3: 51,163,861 (GRCm39) |
V496A |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,574,873 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
G |
2: 125,254,628 (GRCm39) |
T212P |
possibly damaging |
Het |
| Fuca2 |
A |
G |
10: 13,381,609 (GRCm39) |
Y174C |
probably damaging |
Het |
| Gabarap |
C |
T |
11: 69,882,515 (GRCm39) |
|
probably benign |
Het |
| Gdf2 |
A |
G |
14: 33,667,198 (GRCm39) |
T307A |
probably benign |
Het |
| Gemin4 |
G |
C |
11: 76,101,876 (GRCm39) |
P962A |
probably damaging |
Het |
| Glyatl3 |
T |
C |
17: 41,221,975 (GRCm39) |
D93G |
probably benign |
Het |
| Gm266 |
C |
T |
12: 111,451,615 (GRCm39) |
R197K |
possibly damaging |
Het |
| Gns |
G |
A |
10: 121,228,683 (GRCm39) |
R498H |
probably damaging |
Het |
| Gprasp1 |
G |
A |
X: 134,702,791 (GRCm39) |
E995K |
possibly damaging |
Het |
| Grk6 |
T |
C |
13: 55,602,177 (GRCm39) |
W335R |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,173 (GRCm39) |
E2379G |
probably benign |
Het |
| Hmx2 |
A |
T |
7: 131,157,588 (GRCm39) |
D234V |
probably damaging |
Het |
| Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably damaging |
Het |
| Ipo9 |
CCT |
CCTTCT |
1: 135,314,020 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,329,988 (GRCm39) |
V484A |
probably benign |
Het |
| Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
TCC |
TCCGCC |
1: 135,314,013 (GRCm39) |
|
probably benign |
Het |
| Itpkc |
A |
G |
7: 26,919,075 (GRCm39) |
V397A |
possibly damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Kat5 |
T |
A |
19: 5,655,713 (GRCm39) |
|
probably null |
Het |
| Kctd16 |
A |
G |
18: 40,392,231 (GRCm39) |
E273G |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,129,083 (GRCm39) |
T188A |
possibly damaging |
Het |
| Kif18a |
T |
A |
2: 109,163,848 (GRCm39) |
N732K |
probably benign |
Het |
| Laptm4b |
G |
T |
15: 34,238,478 (GRCm39) |
M3I |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,248,895 (GRCm39) |
C7210Y |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,811,094 (GRCm39) |
N338S |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,008,095 (GRCm39) |
|
probably null |
Het |
| Micall1 |
T |
C |
15: 79,014,995 (GRCm39) |
Y751H |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,297,321 (GRCm39) |
I2571T |
possibly damaging |
Het |
| Mx2 |
G |
A |
16: 97,339,903 (GRCm39) |
E20K |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,714,194 (GRCm39) |
E87G |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,561,648 (GRCm39) |
|
probably null |
Het |
| Nipa1 |
C |
A |
7: 55,647,259 (GRCm39) |
|
probably null |
Het |
| Nrbp1 |
A |
G |
5: 31,405,273 (GRCm39) |
E287G |
possibly damaging |
Het |
| Nup188 |
T |
A |
2: 30,226,718 (GRCm39) |
I1165N |
possibly damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Optc |
A |
T |
1: 133,831,534 (GRCm39) |
|
probably null |
Het |
| Or14j4 |
T |
G |
17: 37,921,362 (GRCm39) |
E93D |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,414,666 (GRCm39) |
I39V |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
| Or4k48 |
C |
A |
2: 111,475,566 (GRCm39) |
V259L |
probably benign |
Het |
| Or51a10 |
C |
T |
7: 103,699,507 (GRCm39) |
G18D |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,273,616 (GRCm39) |
K312E |
probably benign |
Het |
| Or9g3 |
C |
T |
2: 85,590,021 (GRCm39) |
R233H |
probably benign |
Het |
| Panx3 |
G |
C |
9: 37,577,969 (GRCm39) |
S87W |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,031,422 (GRCm39) |
D430V |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,176 (GRCm39) |
N169D |
probably benign |
Het |
| Pdzd2 |
C |
A |
15: 12,406,645 (GRCm39) |
G605V |
probably damaging |
Het |
| Phkg2 |
G |
A |
7: 127,181,386 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,594,119 (GRCm39) |
K1331N |
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,818,019 (GRCm39) |
V762M |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,067,374 (GRCm39) |
T1331A |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,750,043 (GRCm39) |
|
probably null |
Het |
| Prb1a |
T |
A |
6: 132,184,166 (GRCm39) |
Q489L |
unknown |
Het |
| Prelp |
C |
T |
1: 133,842,869 (GRCm39) |
R92K |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,770,998 (GRCm39) |
Y782C |
possibly damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,314,210 (GRCm39) |
|
probably null |
Het |
| Ren1 |
C |
G |
1: 133,278,516 (GRCm39) |
|
probably null |
Het |
| Rit2 |
A |
G |
18: 31,286,766 (GRCm39) |
F140L |
probably benign |
Het |
| Ro60 |
T |
C |
1: 143,635,772 (GRCm39) |
D458G |
probably benign |
Het |
| Rorc |
G |
A |
3: 94,296,833 (GRCm39) |
R271Q |
probably benign |
Het |
| Sall3 |
A |
T |
18: 81,013,046 (GRCm39) |
M1130K |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,902,154 (GRCm39) |
E141G |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,974,568 (GRCm39) |
D195G |
probably benign |
Het |
| Slitrk6 |
T |
G |
14: 110,988,226 (GRCm39) |
T494P |
probably benign |
Het |
| Tars3 |
A |
T |
7: 65,308,645 (GRCm39) |
I272L |
probably benign |
Het |
| Tas2r115 |
T |
C |
6: 132,714,321 (GRCm39) |
K210R |
probably benign |
Het |
| Tdpoz3 |
C |
T |
3: 93,734,206 (GRCm39) |
H294Y |
probably benign |
Het |
| Tesl1 |
T |
A |
X: 23,773,549 (GRCm39) |
V350E |
probably benign |
Het |
| Tigd4 |
A |
G |
3: 84,501,670 (GRCm39) |
T196A |
possibly damaging |
Het |
| Treh |
G |
A |
9: 44,592,438 (GRCm39) |
M54I |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
| Ubap1 |
C |
T |
4: 41,379,257 (GRCm39) |
A157V |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,204,518 (GRCm39) |
T4810M |
probably damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,907,178 (GRCm39) |
F167I |
probably damaging |
Het |
| Zfp281 |
GCGGCAGCTCCGGCAGC |
GCGGCAGCTCCGGCAGCTCCGGCAGC |
1: 136,553,091 (GRCm39) |
|
probably benign |
Het |
| Zfp473 |
T |
C |
7: 44,382,501 (GRCm39) |
T610A |
possibly damaging |
Het |
| Zfp606 |
T |
C |
7: 12,213,653 (GRCm39) |
I4T |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,963,578 (GRCm39) |
N1918K |
probably damaging |
Het |
| Zfp65 |
G |
T |
13: 67,856,311 (GRCm39) |
H333N |
probably damaging |
Het |
|
| Other mutations in Myh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Myh2
|
APN |
11 |
67,076,059 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00330:Myh2
|
APN |
11 |
67,084,266 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00423:Myh2
|
APN |
11 |
67,088,171 (GRCm39) |
missense |
probably benign |
|
|
IGL00429:Myh2
|
APN |
11 |
67,071,616 (GRCm39) |
nonsense |
probably null |
|
|
IGL00465:Myh2
|
APN |
11 |
67,069,659 (GRCm39) |
splice site |
probably benign |
|
|
IGL00671:Myh2
|
APN |
11 |
67,084,183 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00773:Myh2
|
APN |
11 |
67,085,247 (GRCm39) |
missense |
probably benign |
|
|
IGL00821:Myh2
|
APN |
11 |
67,088,223 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00900:Myh2
|
APN |
11 |
67,070,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Myh2
|
APN |
11 |
67,068,250 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01613:Myh2
|
APN |
11 |
67,088,170 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01845:Myh2
|
APN |
11 |
67,083,860 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01900:Myh2
|
APN |
11 |
67,074,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01936:Myh2
|
APN |
11 |
67,082,599 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02129:Myh2
|
APN |
11 |
67,076,084 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02172:Myh2
|
APN |
11 |
67,079,878 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02554:Myh2
|
APN |
11 |
67,079,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02578:Myh2
|
APN |
11 |
67,077,517 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03075:Myh2
|
APN |
11 |
67,071,662 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03078:Myh2
|
APN |
11 |
67,081,256 (GRCm39) |
missense |
probably benign |
|
|
IGL03117:Myh2
|
APN |
11 |
67,071,710 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03255:Myh2
|
APN |
11 |
67,084,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03266:Myh2
|
APN |
11 |
67,067,150 (GRCm39) |
missense |
probably benign |
|
|
IGL03366:Myh2
|
APN |
11 |
67,074,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Myh2
|
APN |
11 |
67,080,395 (GRCm39) |
missense |
probably benign |
0.04 |
|
limp
|
UTSW |
11 |
67,083,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
noodle
|
UTSW |
11 |
67,077,438 (GRCm39) |
missense |
probably benign |
|
|
PIT4403001:Myh2
|
UTSW |
11 |
67,077,533 (GRCm39) |
missense |
probably benign |
0.22 |
|
PIT4508001:Myh2
|
UTSW |
11 |
67,076,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4677001:Myh2
|
UTSW |
11 |
67,072,818 (GRCm39) |
missense |
probably benign |
|
|
R0039:Myh2
|
UTSW |
11 |
67,069,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Myh2
|
UTSW |
11 |
67,076,130 (GRCm39) |
splice site |
probably benign |
|
|
R0389:Myh2
|
UTSW |
11 |
67,071,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Myh2
|
UTSW |
11 |
67,083,424 (GRCm39) |
splice site |
probably benign |
|
|
R0512:Myh2
|
UTSW |
11 |
67,079,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Myh2
|
UTSW |
11 |
67,069,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0746:Myh2
|
UTSW |
11 |
67,064,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0842:Myh2
|
UTSW |
11 |
67,070,350 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0893:Myh2
|
UTSW |
11 |
67,077,334 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1218:Myh2
|
UTSW |
11 |
67,083,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1264:Myh2
|
UTSW |
11 |
67,071,604 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1398:Myh2
|
UTSW |
11 |
67,076,113 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1774:Myh2
|
UTSW |
11 |
67,064,300 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1800:Myh2
|
UTSW |
11 |
67,079,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1829:Myh2
|
UTSW |
11 |
67,067,385 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1840:Myh2
|
UTSW |
11 |
67,077,313 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1888:Myh2
|
UTSW |
11 |
67,071,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1888:Myh2
|
UTSW |
11 |
67,071,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1969:Myh2
|
UTSW |
11 |
67,080,004 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1971:Myh2
|
UTSW |
11 |
67,080,004 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1985:Myh2
|
UTSW |
11 |
67,071,740 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2021:Myh2
|
UTSW |
11 |
67,082,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Myh2
|
UTSW |
11 |
67,085,451 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2057:Myh2
|
UTSW |
11 |
67,079,665 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2080:Myh2
|
UTSW |
11 |
67,065,767 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2215:Myh2
|
UTSW |
11 |
67,082,563 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2225:Myh2
|
UTSW |
11 |
67,084,555 (GRCm39) |
missense |
probably benign |
|
|
R2274:Myh2
|
UTSW |
11 |
67,081,184 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3018:Myh2
|
UTSW |
11 |
67,070,410 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3113:Myh2
|
UTSW |
11 |
67,076,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3703:Myh2
|
UTSW |
11 |
67,080,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4022:Myh2
|
UTSW |
11 |
67,070,230 (GRCm39) |
nonsense |
probably null |
|
|
R4081:Myh2
|
UTSW |
11 |
67,081,256 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4191:Myh2
|
UTSW |
11 |
67,068,226 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4291:Myh2
|
UTSW |
11 |
67,071,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4292:Myh2
|
UTSW |
11 |
67,085,723 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4424:Myh2
|
UTSW |
11 |
67,083,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4524:Myh2
|
UTSW |
11 |
67,067,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Myh2
|
UTSW |
11 |
67,064,084 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4597:Myh2
|
UTSW |
11 |
67,080,244 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4641:Myh2
|
UTSW |
11 |
67,085,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Myh2
|
UTSW |
11 |
67,079,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4673:Myh2
|
UTSW |
11 |
67,079,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Myh2
|
UTSW |
11 |
67,077,328 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4818:Myh2
|
UTSW |
11 |
67,067,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4943:Myh2
|
UTSW |
11 |
67,088,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4958:Myh2
|
UTSW |
11 |
67,083,785 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5139:Myh2
|
UTSW |
11 |
67,070,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Myh2
|
UTSW |
11 |
67,083,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5306:Myh2
|
UTSW |
11 |
67,077,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5492:Myh2
|
UTSW |
11 |
67,071,701 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5503:Myh2
|
UTSW |
11 |
67,064,275 (GRCm39) |
missense |
probably benign |
|
|
R5646:Myh2
|
UTSW |
11 |
67,079,638 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5750:Myh2
|
UTSW |
11 |
67,082,254 (GRCm39) |
missense |
probably benign |
|
|
R5806:Myh2
|
UTSW |
11 |
67,072,141 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5878:Myh2
|
UTSW |
11 |
67,083,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5892:Myh2
|
UTSW |
11 |
67,076,002 (GRCm39) |
nonsense |
probably null |
|
|
R5898:Myh2
|
UTSW |
11 |
67,083,545 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6154:Myh2
|
UTSW |
11 |
67,077,438 (GRCm39) |
missense |
probably benign |
|
|
R6156:Myh2
|
UTSW |
11 |
67,071,879 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6236:Myh2
|
UTSW |
11 |
67,081,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6349:Myh2
|
UTSW |
11 |
67,083,829 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6441:Myh2
|
UTSW |
11 |
67,085,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6548:Myh2
|
UTSW |
11 |
67,077,438 (GRCm39) |
missense |
probably benign |
|
|
R6681:Myh2
|
UTSW |
11 |
67,069,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Myh2
|
UTSW |
11 |
67,084,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Myh2
|
UTSW |
11 |
67,084,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6969:Myh2
|
UTSW |
11 |
67,088,092 (GRCm39) |
missense |
probably benign |
|
|
R7172:Myh2
|
UTSW |
11 |
67,079,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7257:Myh2
|
UTSW |
11 |
67,071,976 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7286:Myh2
|
UTSW |
11 |
67,079,195 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7323:Myh2
|
UTSW |
11 |
67,088,191 (GRCm39) |
missense |
probably benign |
|
|
R7396:Myh2
|
UTSW |
11 |
67,085,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7468:Myh2
|
UTSW |
11 |
67,083,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7585:Myh2
|
UTSW |
11 |
67,070,237 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7709:Myh2
|
UTSW |
11 |
67,085,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7859:Myh2
|
UTSW |
11 |
67,077,526 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7908:Myh2
|
UTSW |
11 |
67,088,197 (GRCm39) |
missense |
probably benign |
|
|
R8062:Myh2
|
UTSW |
11 |
67,084,209 (GRCm39) |
nonsense |
probably null |
|
|
R8065:Myh2
|
UTSW |
11 |
67,072,170 (GRCm39) |
missense |
probably null |
0.01 |
|
R8093:Myh2
|
UTSW |
11 |
67,079,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8123:Myh2
|
UTSW |
11 |
67,064,135 (GRCm39) |
missense |
probably benign |
|
|
R8235:Myh2
|
UTSW |
11 |
67,083,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8512:Myh2
|
UTSW |
11 |
67,081,187 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8762:Myh2
|
UTSW |
11 |
67,084,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777:Myh2
|
UTSW |
11 |
67,083,398 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8777-TAIL:Myh2
|
UTSW |
11 |
67,083,398 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8823:Myh2
|
UTSW |
11 |
67,076,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Myh2
|
UTSW |
11 |
67,079,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8928:Myh2
|
UTSW |
11 |
67,079,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8978:Myh2
|
UTSW |
11 |
67,080,323 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8978:Myh2
|
UTSW |
11 |
67,068,188 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9228:Myh2
|
UTSW |
11 |
67,077,522 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9332:Myh2
|
UTSW |
11 |
67,070,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Myh2
|
UTSW |
11 |
67,070,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Myh2
|
UTSW |
11 |
67,070,359 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9445:Myh2
|
UTSW |
11 |
67,069,754 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9542:Myh2
|
UTSW |
11 |
67,072,002 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9597:Myh2
|
UTSW |
11 |
67,064,302 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9654:Myh2
|
UTSW |
11 |
67,088,171 (GRCm39) |
missense |
probably benign |
|
|
R9704:Myh2
|
UTSW |
11 |
67,071,617 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9736:Myh2
|
UTSW |
11 |
67,063,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9740:Myh2
|
UTSW |
11 |
67,080,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Myh2
|
UTSW |
11 |
67,065,848 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0065:Myh2
|
UTSW |
11 |
67,067,085 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Myh2
|
UTSW |
11 |
67,071,589 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1088:Myh2
|
UTSW |
11 |
67,082,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Myh2
|
UTSW |
11 |
67,084,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Myh2
|
UTSW |
11 |
67,066,997 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1188:Myh2
|
UTSW |
11 |
67,079,639 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACGGAATTTCTACACTGTG -3'
(R):5'- CCCTGCGCATTTTCTGGAAC -3'
Sequencing Primer
(F):5'- AAGAGTTTGAAATGAGCAATCTGC -3'
(R):5'- GCGCATTTTCTGGAACTCAGC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation