Incidental Mutation 'R4672:Myh2'
| ID |
348549 |
| 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 |
041927-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R4672 (G1)
|
| Quality Score |
84 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
67061853-67088343 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67079303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 957
(L957Q)
|
| 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: L957Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: L957Q
| 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: L957Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: L957Q
| 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: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (113/115) |
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,962,702 (GRCm39) |
L483F |
possibly damaging |
Het |
| Abca8b |
A |
G |
11: 109,827,274 (GRCm39) |
F1507L |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,815,353 (GRCm39) |
E104* |
probably null |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Alppl2 |
T |
C |
1: 87,017,187 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
A |
G |
2: 84,967,524 (GRCm39) |
Y183C |
probably damaging |
Het |
| Atm |
G |
A |
9: 53,433,501 (GRCm39) |
R250W |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,757,132 (GRCm39) |
L275P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,944,139 (GRCm39) |
*330W |
probably null |
Het |
| Ccdc178 |
G |
A |
18: 22,283,501 (GRCm39) |
Q10* |
probably null |
Het |
| Ccr9 |
T |
C |
9: 123,608,752 (GRCm39) |
Y145H |
probably damaging |
Het |
| Cd209f |
C |
T |
8: 4,153,685 (GRCm39) |
G188D |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,136,365 (GRCm39) |
S23T |
possibly damaging |
Het |
| Cpped1 |
C |
A |
16: 11,623,238 (GRCm39) |
E294* |
probably null |
Het |
| Crisp1 |
T |
A |
17: 40,605,404 (GRCm39) |
|
probably null |
Het |
| Disp1 |
T |
C |
1: 182,880,215 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
A |
T |
7: 91,935,743 (GRCm39) |
M624L |
probably damaging |
Het |
| Elf2 |
A |
G |
3: 51,163,855 (GRCm39) |
V558A |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,743,109 (GRCm39) |
D209G |
probably damaging |
Het |
| Fam187b |
G |
A |
7: 30,676,968 (GRCm39) |
R159H |
probably damaging |
Het |
| Fh1 |
G |
A |
1: 175,431,617 (GRCm39) |
A423V |
probably benign |
Het |
| Frg1 |
C |
T |
8: 41,853,846 (GRCm39) |
D164N |
probably benign |
Het |
| Fsbp |
T |
G |
4: 11,579,841 (GRCm39) |
N36K |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,744,579 (GRCm39) |
T1592A |
probably damaging |
Het |
| Gimap3 |
A |
G |
6: 48,742,687 (GRCm39) |
I81T |
probably damaging |
Het |
| Gjb6 |
C |
T |
14: 57,362,235 (GRCm39) |
V9I |
probably benign |
Het |
| Gkap1 |
T |
C |
13: 58,411,770 (GRCm39) |
S68G |
possibly damaging |
Het |
| Gpatch8 |
A |
T |
11: 102,369,784 (GRCm39) |
S1251R |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,664,981 (GRCm39) |
F92L |
possibly damaging |
Het |
| H2-Q1 |
C |
A |
17: 35,539,906 (GRCm39) |
D58E |
probably damaging |
Het |
| Hs1bp3 |
G |
T |
12: 8,391,983 (GRCm39) |
G362* |
probably null |
Het |
| Igfn1 |
T |
A |
1: 135,893,107 (GRCm39) |
H2114L |
possibly damaging |
Het |
| Igkv12-98 |
A |
G |
6: 68,547,940 (GRCm39) |
Q22R |
probably benign |
Het |
| Ing3 |
A |
G |
6: 21,965,729 (GRCm39) |
|
probably null |
Het |
| Insr |
C |
T |
8: 3,217,501 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,941,630 (GRCm39) |
S374P |
probably benign |
Het |
| Kif14 |
A |
C |
1: 136,449,016 (GRCm39) |
Q1472P |
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,449,017 (GRCm39) |
Q1472H |
probably benign |
Het |
| Knstrn |
A |
G |
2: 118,664,512 (GRCm39) |
E202G |
probably damaging |
Het |
| Knstrn |
G |
T |
2: 118,664,513 (GRCm39) |
E202D |
possibly damaging |
Het |
| Krt12 |
A |
G |
11: 99,309,509 (GRCm39) |
|
probably benign |
Het |
| Lgi3 |
A |
T |
14: 70,771,897 (GRCm39) |
I195F |
possibly damaging |
Het |
| Lima1 |
T |
C |
15: 99,741,590 (GRCm39) |
N29D |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,802,806 (GRCm39) |
I88V |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,929,120 (GRCm39) |
S86P |
probably benign |
Het |
| Lsamp |
A |
G |
16: 41,775,697 (GRCm39) |
R166G |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,328,148 (GRCm39) |
N407Y |
probably damaging |
Het |
| Mast3 |
CATA |
CA |
8: 71,237,441 (GRCm39) |
|
probably null |
Het |
| Megf6 |
T |
A |
4: 154,333,909 (GRCm39) |
N212K |
probably damaging |
Het |
| Met |
A |
C |
6: 17,571,803 (GRCm39) |
D1374A |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,233,923 (GRCm39) |
T902A |
probably benign |
Het |
| Mroh3 |
T |
A |
1: 136,118,713 (GRCm39) |
T535S |
probably benign |
Het |
| Muc1 |
G |
T |
3: 89,139,384 (GRCm39) |
V595L |
probably damaging |
Het |
| Myorg |
T |
A |
4: 41,499,061 (GRCm39) |
M190L |
probably benign |
Het |
| Ncl |
A |
T |
1: 86,284,324 (GRCm39) |
D257E |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,332,468 (GRCm39) |
D2263V |
probably damaging |
Het |
| Optc |
C |
A |
1: 133,825,555 (GRCm39) |
V324L |
possibly damaging |
Het |
| Or4k15 |
A |
G |
14: 50,364,714 (GRCm39) |
N227D |
probably benign |
Het |
| Or4k42 |
A |
T |
2: 111,319,902 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or7g35 |
A |
G |
9: 19,496,726 (GRCm39) |
K298E |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,921,806 (GRCm39) |
I604T |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,939,210 (GRCm39) |
A2080D |
probably damaging |
Het |
| Parp6 |
G |
C |
9: 59,547,393 (GRCm39) |
R460P |
probably damaging |
Het |
| Phactr4 |
G |
T |
4: 132,098,017 (GRCm39) |
P417Q |
probably damaging |
Het |
| Pigt |
T |
C |
2: 164,339,498 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,470,655 (GRCm39) |
I99V |
probably damaging |
Het |
| Plxna3 |
T |
G |
X: 73,382,554 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
G |
A |
9: 50,779,019 (GRCm39) |
M362I |
probably damaging |
Het |
| Pramel34 |
T |
A |
5: 93,784,182 (GRCm39) |
R230S |
probably damaging |
Het |
| Rad51 |
A |
G |
2: 118,954,327 (GRCm39) |
I136V |
probably benign |
Het |
| Rad54b |
T |
A |
4: 11,609,449 (GRCm39) |
H633Q |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,071,231 (GRCm39) |
F41S |
probably benign |
Het |
| Reep3 |
T |
A |
10: 66,857,629 (GRCm39) |
H154L |
probably benign |
Het |
| Rp1l1 |
T |
G |
14: 64,268,719 (GRCm39) |
V1435G |
probably damaging |
Het |
| Rps6ka5 |
C |
A |
12: 100,620,546 (GRCm39) |
K125N |
possibly damaging |
Het |
| Rsad1 |
A |
T |
11: 94,434,444 (GRCm39) |
M330K |
probably damaging |
Het |
| Scand1 |
A |
G |
2: 156,153,850 (GRCm39) |
|
probably null |
Het |
| Setd6 |
A |
G |
8: 96,444,640 (GRCm39) |
H111R |
probably null |
Het |
| Slc27a3 |
T |
C |
3: 90,294,953 (GRCm39) |
N368S |
possibly damaging |
Het |
| Slc38a2 |
T |
C |
15: 96,596,518 (GRCm39) |
T32A |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,721,164 (GRCm39) |
S683P |
probably damaging |
Het |
| Smyd2 |
A |
T |
1: 189,642,101 (GRCm39) |
L62M |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,779,075 (GRCm39) |
Y687C |
probably damaging |
Het |
| Spaca6 |
T |
A |
17: 18,057,005 (GRCm39) |
C53* |
probably null |
Het |
| Spata31e4 |
T |
C |
13: 50,857,208 (GRCm39) |
Y949H |
probably benign |
Het |
| Spire2 |
T |
C |
8: 124,084,850 (GRCm39) |
V230A |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,782,524 (GRCm39) |
V487L |
probably benign |
Het |
| Stk3 |
T |
A |
15: 35,099,603 (GRCm39) |
I110L |
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,645,141 (GRCm39) |
Y773F |
probably damaging |
Het |
| Tbrg1 |
C |
A |
9: 37,562,632 (GRCm39) |
A259S |
probably damaging |
Het |
| Tnfsf18 |
C |
A |
1: 161,331,307 (GRCm39) |
D152E |
probably benign |
Het |
| Tpr |
G |
A |
1: 150,299,318 (GRCm39) |
A1173T |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,722,290 (GRCm39) |
L271P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,657,419 (GRCm39) |
|
probably benign |
Het |
| U2surp |
A |
G |
9: 95,375,198 (GRCm39) |
S192P |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,138,027 (GRCm39) |
S1128L |
probably damaging |
Het |
| Ucma |
G |
A |
2: 4,981,465 (GRCm39) |
|
probably null |
Het |
| Urb1 |
A |
T |
16: 90,569,522 (GRCm39) |
D1401E |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,631,597 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,056 (GRCm39) |
Y270H |
probably damaging |
Het |
| Vmn1r90 |
T |
A |
7: 14,295,493 (GRCm39) |
T202S |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,612 (GRCm39) |
Y616C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,672,413 (GRCm39) |
W717R |
probably damaging |
Het |
| Zcchc4 |
C |
A |
5: 52,953,947 (GRCm39) |
T209K |
probably benign |
Het |
| Zfp955b |
T |
A |
17: 33,524,233 (GRCm39) |
|
probably benign |
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 |
|
|
R2142:Myh2
|
UTSW |
11 |
67,080,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AGCAGGCCACTTCAAGAAGG -3'
(R):5'- CGTGCTTTGCATTAAACGTTAGG -3'
Sequencing Primer
(F):5'- TATATTGCCAACTCCAGGAAGCTG -3'
(R):5'- AACGTTAGGTCTTAATAGCTTTGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation