Incidental Mutation 'R1829:Myh2'
ID |
207133 |
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 |
039856-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R1829 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
67061853-67088343 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67067385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 224
(I224T)
|
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: I224T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000018641 Gene: ENSMUSG00000033196 AA Change: I224T
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 |
noncoding transcript
Transcript: ENSMUST00000124337
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170159
AA Change: I224T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129544 Gene: ENSMUSG00000033196 AA Change: I224T
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: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.7%
|
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: 114 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
T |
8: 111,769,338 (GRCm39) |
D287V |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,334,188 (GRCm39) |
C1105R |
probably benign |
Het |
Abca8b |
T |
A |
11: 109,833,167 (GRCm39) |
N1178Y |
probably damaging |
Het |
Abhd12 |
A |
G |
2: 150,685,318 (GRCm39) |
L189P |
probably damaging |
Het |
Acap2 |
G |
T |
16: 30,929,752 (GRCm39) |
N435K |
probably damaging |
Het |
Adam6b |
G |
T |
12: 113,453,545 (GRCm39) |
G121C |
probably damaging |
Het |
Adgrb1 |
C |
A |
15: 74,452,435 (GRCm39) |
C200* |
probably null |
Het |
Agbl5 |
T |
C |
5: 31,060,408 (GRCm39) |
S730P |
possibly damaging |
Het |
Ahsg |
G |
A |
16: 22,711,078 (GRCm39) |
|
probably benign |
Het |
Aldh9a1 |
A |
T |
1: 167,189,423 (GRCm39) |
K390N |
probably benign |
Het |
Alpk2 |
T |
A |
18: 65,427,165 (GRCm39) |
H1857L |
possibly damaging |
Het |
Apip |
T |
A |
2: 102,919,007 (GRCm39) |
N102K |
probably benign |
Het |
Asxl2 |
T |
C |
12: 3,507,125 (GRCm39) |
S106P |
probably damaging |
Het |
Atp2b2 |
G |
T |
6: 113,750,329 (GRCm39) |
R677S |
probably damaging |
Het |
Barhl1 |
A |
C |
2: 28,799,857 (GRCm39) |
M256R |
probably damaging |
Het |
Cacnb2 |
A |
T |
2: 14,990,775 (GRCm39) |
Q619L |
possibly damaging |
Het |
Ccdc137 |
C |
T |
11: 120,349,038 (GRCm39) |
P23L |
probably benign |
Het |
Cdh11 |
A |
T |
8: 103,361,273 (GRCm39) |
N688K |
possibly damaging |
Het |
Cdh18 |
C |
T |
15: 23,173,938 (GRCm39) |
P51S |
probably damaging |
Het |
Cdin1 |
G |
T |
2: 115,473,173 (GRCm39) |
R101L |
possibly damaging |
Het |
Cfhr1 |
A |
T |
1: 139,481,338 (GRCm39) |
Y181N |
probably damaging |
Het |
Chmp3 |
A |
G |
6: 71,537,923 (GRCm39) |
D50G |
probably benign |
Het |
Crem |
T |
C |
18: 3,295,037 (GRCm39) |
|
probably null |
Het |
Cyb561a3 |
G |
A |
19: 10,559,757 (GRCm39) |
W27* |
probably null |
Het |
Cyp2d12 |
C |
A |
15: 82,442,257 (GRCm39) |
N297K |
possibly damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dnah12 |
T |
A |
14: 26,522,032 (GRCm39) |
N1948K |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,494,980 (GRCm39) |
L1346P |
probably damaging |
Het |
Dsp |
T |
G |
13: 38,377,171 (GRCm39) |
L1652R |
probably damaging |
Het |
Dstyk |
G |
A |
1: 132,377,333 (GRCm39) |
S66N |
probably benign |
Het |
Ehhadh |
T |
C |
16: 21,580,928 (GRCm39) |
E688G |
probably damaging |
Het |
Emsy |
G |
T |
7: 98,251,937 (GRCm39) |
H688N |
possibly damaging |
Het |
Emsy |
T |
A |
7: 98,251,936 (GRCm39) |
H688L |
possibly damaging |
Het |
Endod1 |
A |
G |
9: 14,268,222 (GRCm39) |
L421P |
probably damaging |
Het |
Fam222b |
C |
T |
11: 78,045,861 (GRCm39) |
P346L |
probably damaging |
Het |
Fam3c |
G |
A |
6: 22,309,436 (GRCm39) |
R182W |
probably damaging |
Het |
Gck |
T |
C |
11: 5,860,984 (GRCm39) |
D29G |
probably damaging |
Het |
Gm10320 |
C |
A |
13: 98,626,207 (GRCm39) |
R59L |
probably damaging |
Het |
Gm21798 |
C |
T |
15: 64,689,675 (GRCm39) |
|
probably benign |
Het |
Gm9376 |
A |
G |
14: 118,504,957 (GRCm39) |
T130A |
possibly damaging |
Het |
Gpr153 |
T |
A |
4: 152,366,849 (GRCm39) |
I334N |
possibly damaging |
Het |
Greb1l |
T |
C |
18: 10,509,314 (GRCm39) |
L542P |
probably damaging |
Het |
H2-T15 |
G |
T |
17: 36,368,896 (GRCm39) |
F61L |
probably damaging |
Het |
Hacl1 |
T |
C |
14: 31,362,491 (GRCm39) |
E52G |
probably benign |
Het |
Ice2 |
A |
G |
9: 69,314,635 (GRCm39) |
Y128C |
probably damaging |
Het |
Ikzf2 |
T |
A |
1: 69,581,446 (GRCm39) |
I121L |
probably benign |
Het |
Ipcef1 |
C |
T |
10: 6,869,900 (GRCm39) |
A167T |
probably benign |
Het |
Jakmip2 |
T |
A |
18: 43,715,145 (GRCm39) |
D127V |
possibly damaging |
Het |
Jph4 |
T |
C |
14: 55,352,368 (GRCm39) |
T122A |
probably damaging |
Het |
Kcns2 |
A |
G |
15: 34,838,949 (GRCm39) |
E104G |
probably damaging |
Het |
Lars2 |
A |
C |
9: 123,260,982 (GRCm39) |
R384S |
probably benign |
Het |
Lsmem1 |
T |
A |
12: 40,235,407 (GRCm39) |
H3L |
possibly damaging |
Het |
Lsmem1 |
G |
T |
12: 40,235,408 (GRCm39) |
H3N |
possibly damaging |
Het |
Ly6g2 |
T |
G |
15: 75,088,605 (GRCm39) |
|
probably null |
Het |
Mfhas1 |
A |
C |
8: 36,057,222 (GRCm39) |
S566R |
probably benign |
Het |
Mfhas1 |
C |
G |
8: 36,057,402 (GRCm39) |
R626G |
probably benign |
Het |
Mgam |
A |
G |
6: 40,643,826 (GRCm39) |
T585A |
probably damaging |
Het |
Mmp25 |
T |
C |
17: 23,858,997 (GRCm39) |
K185E |
probably benign |
Het |
Mtch1 |
T |
C |
17: 29,557,750 (GRCm39) |
I243V |
probably damaging |
Het |
Mtcp1 |
A |
T |
X: 74,455,271 (GRCm39) |
Y25* |
probably null |
Het |
Mybl2 |
A |
G |
2: 162,901,503 (GRCm39) |
T35A |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,041,744 (GRCm39) |
E736G |
probably damaging |
Het |
Mymx |
T |
C |
17: 45,912,759 (GRCm39) |
|
probably benign |
Het |
Nek10 |
A |
G |
14: 14,863,454 (GRCm38) |
|
probably null |
Het |
Nsd1 |
A |
T |
13: 55,394,182 (GRCm39) |
K697N |
probably damaging |
Het |
Nynrin |
A |
G |
14: 56,110,404 (GRCm39) |
D1837G |
possibly damaging |
Het |
Or14j4 |
G |
A |
17: 37,921,168 (GRCm39) |
T158I |
probably benign |
Het |
Or2ag2b |
A |
G |
7: 106,418,214 (GRCm39) |
H308R |
probably benign |
Het |
Or52s1 |
A |
T |
7: 102,861,093 (GRCm39) |
T9S |
probably benign |
Het |
Or5p81 |
T |
A |
7: 108,266,851 (GRCm39) |
I76N |
probably benign |
Het |
Or6k4 |
T |
A |
1: 173,964,760 (GRCm39) |
I150N |
probably benign |
Het |
Pgap6 |
T |
C |
17: 26,341,194 (GRCm39) |
Y766H |
probably damaging |
Het |
Phf19 |
T |
C |
2: 34,801,781 (GRCm39) |
T10A |
probably benign |
Het |
Pkd1 |
A |
T |
17: 24,784,558 (GRCm39) |
H368L |
probably benign |
Het |
Plscr2 |
A |
G |
9: 92,172,808 (GRCm39) |
R156G |
probably damaging |
Het |
Ppp1r42 |
G |
A |
1: 10,070,311 (GRCm39) |
R61C |
probably benign |
Het |
Pptc7 |
T |
G |
5: 122,451,679 (GRCm39) |
V45G |
probably damaging |
Het |
Prlhr |
G |
A |
19: 60,455,867 (GRCm39) |
T233I |
probably damaging |
Het |
Prr23a4 |
T |
A |
9: 98,785,446 (GRCm39) |
I37N |
possibly damaging |
Het |
Reps1 |
C |
T |
10: 17,983,462 (GRCm39) |
T435I |
probably damaging |
Het |
Ret |
T |
A |
6: 118,130,912 (GRCm39) |
T1084S |
probably damaging |
Het |
Rgl2 |
T |
A |
17: 34,152,595 (GRCm39) |
M402K |
probably benign |
Het |
Rp2 |
A |
G |
X: 20,243,154 (GRCm39) |
K43R |
probably benign |
Het |
Rundc3b |
A |
T |
5: 8,629,117 (GRCm39) |
W95R |
probably damaging |
Het |
Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
Scnn1b |
G |
A |
7: 121,502,068 (GRCm39) |
R242H |
probably benign |
Het |
Smad4 |
G |
T |
18: 73,774,965 (GRCm39) |
Q445K |
probably benign |
Het |
Smchd1 |
G |
T |
17: 71,677,332 (GRCm39) |
P1486T |
probably damaging |
Het |
Snx25 |
G |
T |
8: 46,488,669 (GRCm39) |
N895K |
possibly damaging |
Het |
Sox2 |
A |
G |
3: 34,704,890 (GRCm39) |
D109G |
probably damaging |
Het |
Stfa2 |
A |
T |
16: 36,225,564 (GRCm39) |
N38K |
probably damaging |
Het |
Stfa2 |
C |
A |
16: 36,225,573 (GRCm39) |
E35D |
possibly damaging |
Het |
Stfa3 |
A |
G |
16: 36,271,023 (GRCm39) |
L87P |
probably damaging |
Het |
Strbp |
T |
C |
2: 37,530,921 (GRCm39) |
D111G |
possibly damaging |
Het |
Supt20 |
C |
A |
3: 54,635,079 (GRCm39) |
|
probably benign |
Het |
Svep1 |
A |
G |
4: 58,096,310 (GRCm39) |
Y1437H |
possibly damaging |
Het |
Tbx4 |
T |
A |
11: 85,802,746 (GRCm39) |
|
probably null |
Het |
Tmem117 |
A |
T |
15: 94,992,432 (GRCm39) |
N364I |
probably damaging |
Het |
Trat1 |
T |
C |
16: 48,581,742 (GRCm39) |
E45G |
probably damaging |
Het |
Trpc2 |
G |
A |
7: 101,733,326 (GRCm39) |
D92N |
probably damaging |
Het |
Trpm1 |
G |
A |
7: 63,876,530 (GRCm39) |
D528N |
probably damaging |
Het |
Ttll9 |
A |
G |
2: 152,842,156 (GRCm39) |
S337G |
possibly damaging |
Het |
Utrn |
A |
T |
10: 12,351,018 (GRCm39) |
I355N |
probably damaging |
Het |
Vangl1 |
A |
G |
3: 102,070,782 (GRCm39) |
S385P |
probably benign |
Het |
Vmn1r209 |
A |
G |
13: 22,990,409 (GRCm39) |
S94P |
possibly damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,496,810 (GRCm39) |
Q14L |
probably benign |
Het |
Vps45 |
A |
G |
3: 95,954,557 (GRCm39) |
|
probably null |
Het |
Wdr48 |
T |
C |
9: 119,733,396 (GRCm39) |
V81A |
probably benign |
Het |
Xpnpep2 |
A |
G |
X: 47,214,230 (GRCm39) |
N476S |
probably benign |
Het |
Zbtb41 |
A |
T |
1: 139,374,660 (GRCm39) |
K707* |
probably null |
Het |
Zfp442 |
A |
C |
2: 150,250,983 (GRCm39) |
C306W |
probably damaging |
Het |
Zfp811 |
T |
C |
17: 33,017,116 (GRCm39) |
N307S |
possibly damaging |
Het |
Zfp976 |
A |
G |
7: 42,265,735 (GRCm39) |
W17R |
probably damaging |
Het |
Zyg11b |
T |
C |
4: 108,123,290 (GRCm39) |
T226A |
possibly 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 |
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 |
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'- AATTGCAGTCACTGGGGACAAG -3'
(R):5'- ACATGTCCTTCTGGCCAGAG -3'
Sequencing Primer
(F):5'- TGACTGTCACAGAGTCCAGACTG -3'
(R):5'- CTTCTGGCCAGAGTTTTTGATC -3'
|
Posted On |
2014-06-23 |