Incidental Mutation 'R7585:Myh2'
| ID |
587073 |
| 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 |
045635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R7585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
67061853-67088343 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 67070237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018641]
[ENSMUST00000018641]
[ENSMUST00000170159]
[ENSMUST00000170159]
|
| AlphaFold |
G3UW82 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018641
|
| SMART Domains |
Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
| 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 null
Transcript: ENSMUST00000018641
|
| SMART Domains |
Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
| 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 null
Transcript: ENSMUST00000170159
|
| SMART Domains |
Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170159
|
| SMART Domains |
Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,854,851 (GRCm39) |
T64A |
probably benign |
Het |
| A930009A15Rik |
T |
A |
10: 115,414,230 (GRCm39) |
V52D |
unknown |
Het |
| Aadacl2fm2 |
C |
A |
3: 59,651,143 (GRCm39) |
D88E |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,384,073 (GRCm39) |
I2201V |
probably damaging |
Het |
| Aco2 |
A |
C |
15: 81,756,685 (GRCm39) |
|
probably benign |
Het |
| Acod1 |
C |
T |
14: 103,292,177 (GRCm39) |
Q234* |
probably null |
Het |
| Actr6 |
T |
C |
10: 89,561,658 (GRCm39) |
S163G |
probably benign |
Het |
| Agmat |
T |
C |
4: 141,477,056 (GRCm39) |
V154A |
probably benign |
Het |
| Agrn |
T |
C |
4: 156,255,131 (GRCm39) |
N1584S |
probably benign |
Het |
| Alg6 |
A |
T |
4: 99,626,371 (GRCm39) |
S60C |
probably damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,054,482 (GRCm39) |
F98L |
probably damaging |
Het |
| Atp6v1f |
G |
A |
6: 29,467,927 (GRCm39) |
V38I |
possibly damaging |
Het |
| B3gnt3 |
T |
C |
8: 72,145,972 (GRCm39) |
T186A |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,292,007 (GRCm39) |
V351A |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,364,368 (GRCm39) |
S26P |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,229,287 (GRCm39) |
S515L |
probably damaging |
Het |
| Ccdc122 |
C |
A |
14: 77,329,139 (GRCm39) |
A64E |
probably damaging |
Het |
| Ccdc89 |
C |
A |
7: 90,076,510 (GRCm39) |
T240K |
possibly damaging |
Het |
| Cercam |
T |
C |
2: 29,771,743 (GRCm39) |
L521P |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,076,737 (GRCm39) |
N561S |
probably benign |
Het |
| Clk3 |
T |
C |
9: 57,669,119 (GRCm39) |
E159G |
probably damaging |
Het |
| Cntf |
A |
T |
19: 12,741,587 (GRCm39) |
L91* |
probably null |
Het |
| Cntn4 |
T |
A |
6: 106,466,572 (GRCm39) |
I158N |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,888 (GRCm39) |
I194K |
probably damaging |
Het |
| Col22a1 |
T |
A |
15: 71,764,054 (GRCm39) |
D66V |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,485,471 (GRCm39) |
T145A |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,069,568 (GRCm39) |
I876V |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,971,819 (GRCm39) |
S1335P |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,402,014 (GRCm39) |
T3392S |
probably benign |
Het |
| Dnal1 |
A |
G |
12: 84,171,267 (GRCm39) |
K21E |
probably benign |
Het |
| Dspp |
T |
C |
5: 104,323,391 (GRCm39) |
V178A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,153,096 (GRCm39) |
D119G |
possibly damaging |
Het |
| Dyrk4 |
T |
A |
6: 126,867,007 (GRCm39) |
I342F |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,425,757 (GRCm39) |
D649G |
probably damaging |
Het |
| Exoc7 |
T |
C |
11: 116,191,124 (GRCm39) |
D259G |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,153,021 (GRCm39) |
V1159A |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,909,558 (GRCm39) |
D2148G |
probably benign |
Het |
| Fdps |
C |
A |
3: 89,001,113 (GRCm39) |
R300L |
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,315,540 (GRCm39) |
L736P |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,756,301 (GRCm39) |
T475S |
probably damaging |
Het |
| H2-M3 |
T |
G |
17: 37,581,599 (GRCm39) |
L87R |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,343,076 (GRCm39) |
I272F |
probably damaging |
Het |
| Hapln2 |
C |
T |
3: 87,929,980 (GRCm39) |
G299S |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,078,408 (GRCm39) |
I154N |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,352,829 (GRCm39) |
D2105G |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,658 (GRCm39) |
F413S |
probably damaging |
Het |
| Kctd13 |
A |
G |
7: 126,528,458 (GRCm39) |
T78A |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,758,591 (GRCm39) |
D20G |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,744,061 (GRCm39) |
I1386F |
probably benign |
Het |
| Klc4 |
T |
A |
17: 46,942,810 (GRCm39) |
M585L |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,322,933 (GRCm39) |
Y1139C |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,654,094 (GRCm39) |
I1111N |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,050,807 (GRCm39) |
D648E |
possibly damaging |
Het |
| Mmp2 |
G |
A |
8: 93,563,564 (GRCm39) |
G346D |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,631,377 (GRCm39) |
I75L |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,586,076 (GRCm39) |
V537D |
|
Het |
| Myrf |
T |
C |
19: 10,194,091 (GRCm39) |
T487A |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,753,050 (GRCm39) |
L312H |
probably damaging |
Het |
| Nop14 |
G |
A |
5: 34,802,124 (GRCm39) |
P560L |
probably damaging |
Het |
| Nufip1 |
C |
G |
14: 76,348,427 (GRCm39) |
P19A |
probably benign |
Het |
| Oosp3 |
G |
T |
19: 11,678,322 (GRCm39) |
M99I |
probably benign |
Het |
| Or14c40 |
T |
C |
7: 86,313,880 (GRCm39) |
*337Q |
probably null |
Het |
| Or4c52 |
A |
T |
2: 89,845,393 (GRCm39) |
I40F |
probably damaging |
Het |
| Or4x13 |
T |
A |
2: 90,231,367 (GRCm39) |
Y121N |
probably damaging |
Het |
| Or51aa5 |
C |
A |
7: 103,167,166 (GRCm39) |
V142L |
possibly damaging |
Het |
| Or51k2 |
A |
G |
7: 103,596,607 (GRCm39) |
N278S |
probably benign |
Het |
| Or52n4b |
C |
A |
7: 108,144,598 (GRCm39) |
P289T |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,419,042 (GRCm39) |
V145A |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,040,307 (GRCm39) |
|
|
Het |
| Panx2 |
A |
G |
15: 88,952,169 (GRCm39) |
K212R |
probably damaging |
Het |
| Paxip1 |
A |
C |
5: 27,977,002 (GRCm39) |
H353Q |
unknown |
Het |
| Pbx4 |
C |
A |
8: 70,285,475 (GRCm39) |
D39E |
probably damaging |
Het |
| Phc2 |
G |
A |
4: 128,604,932 (GRCm39) |
A223T |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,445,608 (GRCm39) |
D21G |
probably benign |
Het |
| Plec |
G |
A |
15: 76,057,632 (GRCm39) |
R4102W |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,884,608 (GRCm39) |
Y774C |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,630,828 (GRCm39) |
Y1197N |
probably damaging |
Het |
| Psmg4 |
A |
T |
13: 34,347,195 (GRCm39) |
H46L |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,436,084 (GRCm39) |
Y815C |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,346,547 (GRCm39) |
I1426V |
probably benign |
Het |
| Rbm43 |
T |
C |
2: 51,816,763 (GRCm39) |
D68G |
probably benign |
Het |
| Rgs6 |
T |
C |
12: 83,153,644 (GRCm39) |
S360P |
probably damaging |
Het |
| Rp1l1 |
T |
G |
14: 64,267,588 (GRCm39) |
L1058R |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,077,874 (GRCm39) |
S29G |
probably benign |
Het |
| Scube1 |
C |
A |
15: 83,522,988 (GRCm39) |
R284L |
possibly damaging |
Het |
| Serpinb9h |
G |
T |
13: 33,588,299 (GRCm39) |
D295Y |
probably benign |
Het |
| Slc13a3 |
T |
C |
2: 165,272,242 (GRCm39) |
Q267R |
probably benign |
Het |
| Slc49a3 |
T |
C |
5: 108,596,685 (GRCm39) |
T16A |
probably benign |
Het |
| Slc5a1 |
A |
T |
5: 33,318,288 (GRCm39) |
N647I |
probably damaging |
Het |
| Sphk2 |
A |
T |
7: 45,361,006 (GRCm39) |
S333T |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,890,068 (GRCm39) |
D1050G |
probably benign |
Het |
| Tdo2 |
G |
T |
3: 81,870,065 (GRCm39) |
A269E |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,938,648 (GRCm39) |
C64S |
probably damaging |
Het |
| Trim47 |
T |
A |
11: 115,998,383 (GRCm39) |
E360D |
probably damaging |
Het |
| Trp53i13 |
T |
A |
11: 77,399,129 (GRCm39) |
T374S |
possibly damaging |
Het |
| Try5 |
A |
G |
6: 41,288,748 (GRCm39) |
L157P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,578,176 (GRCm39) |
V24239D |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,773,667 (GRCm39) |
Y2318C |
unknown |
Het |
| Txn1 |
T |
C |
4: 57,945,199 (GRCm39) |
D68G |
possibly damaging |
Het |
| Upf3a |
A |
G |
8: 13,837,418 (GRCm39) |
D121G |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,239 (GRCm39) |
Y747C |
probably damaging |
Het |
| Vmn2r68 |
A |
G |
7: 84,881,587 (GRCm39) |
W498R |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Zp2 |
A |
T |
7: 119,733,167 (GRCm39) |
F591L |
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 |
|
|
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 |
|
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'- CTTGGACTCAGTAAGAACATAGGC -3'
(R):5'- AAGACCCCGATGAAGTACTGC -3'
Sequencing Primer
(F):5'- CACAACATGCTTGAAGATAAAGTTG -3'
(R):5'- ATGAAGTACTGCCGGGGCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation