Incidental Mutation 'R1969:Myh2'
| ID |
219491 |
| 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 |
039982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R1969 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
67061853-67088343 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 67080004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 1099
(S1099I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018641]
[ENSMUST00000170159]
|
| AlphaFold |
G3UW82 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018641
AA Change: S1099I
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: S1099I
| 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 |
possibly damaging
Transcript: ENSMUST00000170159
AA Change: S1099I
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: S1099I
| 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 |
|
| Meta Mutation Damage Score |
0.0992 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| 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 |
|---|
| 1110059E24Rik |
T |
C |
19: 21,575,609 (GRCm39) |
|
probably benign |
Het |
| Apoh |
G |
A |
11: 108,298,288 (GRCm39) |
R196Q |
probably benign |
Het |
| Arnt |
C |
T |
3: 95,355,704 (GRCm39) |
S16L |
possibly damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,644,761 (GRCm39) |
F194L |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,100,972 (GRCm39) |
L431M |
possibly damaging |
Het |
| Bdh2 |
G |
T |
3: 134,994,040 (GRCm39) |
A31S |
probably damaging |
Het |
| Brd10 |
C |
T |
19: 29,694,075 (GRCm39) |
S1873N |
possibly damaging |
Het |
| Cacna1s |
T |
C |
1: 136,046,833 (GRCm39) |
S1821P |
probably benign |
Het |
| Caskin1 |
A |
T |
17: 24,725,824 (GRCm39) |
Q1370L |
possibly damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,893,362 (GRCm39) |
S132C |
probably damaging |
Het |
| Cdk15 |
A |
T |
1: 59,370,110 (GRCm39) |
H384L |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,020,691 (GRCm39) |
I354T |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,451,620 (GRCm39) |
I451V |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 77,735,483 (GRCm39) |
E65G |
probably damaging |
Het |
| Ctsll3 |
A |
T |
13: 60,948,162 (GRCm39) |
W172R |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,145,078 (GRCm39) |
D1316G |
probably damaging |
Het |
| Ddx19b |
C |
T |
8: 111,734,890 (GRCm39) |
A493T |
probably benign |
Het |
| Ddx4 |
C |
T |
13: 112,736,547 (GRCm39) |
V608I |
probably damaging |
Het |
| Ddx4 |
T |
A |
13: 112,757,276 (GRCm39) |
H348L |
probably damaging |
Het |
| Dnah17 |
G |
C |
11: 117,995,361 (GRCm39) |
Q996E |
probably benign |
Het |
| Dnah9 |
G |
C |
11: 65,739,197 (GRCm39) |
N4180K |
probably damaging |
Het |
| Dok7 |
A |
G |
5: 35,234,610 (GRCm39) |
|
probably null |
Het |
| Dpf3 |
T |
A |
12: 83,371,809 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
G |
11: 104,637,090 (GRCm39) |
I988M |
probably damaging |
Het |
| Elfn1 |
G |
C |
5: 139,958,604 (GRCm39) |
R536P |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,783,075 (GRCm39) |
V602A |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,746,378 (GRCm39) |
D296G |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,896,230 (GRCm39) |
F738I |
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,558,039 (GRCm39) |
S212P |
probably benign |
Het |
| Fam83a |
T |
C |
15: 57,849,498 (GRCm39) |
L14P |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,014,803 (GRCm39) |
M735K |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,148,466 (GRCm39) |
S694T |
probably benign |
Het |
| Fibcd1 |
G |
A |
2: 31,706,673 (GRCm39) |
T386I |
probably damaging |
Het |
| Foxd4 |
A |
G |
19: 24,877,178 (GRCm39) |
S341P |
probably benign |
Het |
| Foxp4 |
C |
T |
17: 48,186,796 (GRCm39) |
R378Q |
unknown |
Het |
| Fryl |
A |
T |
5: 73,255,609 (GRCm39) |
S807R |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,008 (GRCm39) |
E486G |
unknown |
Het |
| Galnt17 |
A |
G |
5: 131,179,782 (GRCm39) |
S122P |
probably benign |
Het |
| Ghitm |
A |
G |
14: 36,853,586 (GRCm39) |
F85L |
probably benign |
Het |
| Ghrh |
C |
A |
2: 157,175,386 (GRCm39) |
V32L |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,765,430 (GRCm39) |
R907H |
probably benign |
Het |
| Gm28042 |
A |
G |
2: 119,872,096 (GRCm39) |
*1015W |
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,228,784 (GRCm39) |
T1124A |
probably benign |
Het |
| Grid2 |
C |
A |
6: 63,885,902 (GRCm39) |
C99* |
probably null |
Het |
| Grin1 |
A |
T |
2: 25,187,927 (GRCm39) |
M523K |
probably benign |
Het |
| Gucy2g |
T |
C |
19: 55,211,328 (GRCm39) |
Y634C |
possibly damaging |
Het |
| Gucy2g |
T |
G |
19: 55,221,485 (GRCm39) |
T339P |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,522,483 (GRCm39) |
L116H |
probably damaging |
Het |
| Hey1 |
T |
C |
3: 8,731,879 (GRCm39) |
T18A |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,264,186 (GRCm39) |
N792D |
probably damaging |
Het |
| Il19 |
A |
T |
1: 130,866,893 (GRCm39) |
L29Q |
probably damaging |
Het |
| Il21r |
A |
G |
7: 125,228,144 (GRCm39) |
Q205R |
probably damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,782,122 (GRCm39) |
D169G |
probably null |
Het |
| Kctd18 |
T |
C |
1: 58,006,779 (GRCm39) |
I24V |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,437,946 (GRCm39) |
S119P |
probably damaging |
Het |
| Lig3 |
G |
C |
11: 82,686,544 (GRCm39) |
D642H |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,515,696 (GRCm39) |
K2166E |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,866,972 (GRCm39) |
V679A |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,904,929 (GRCm39) |
R3202H |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,721,885 (GRCm39) |
C11R |
probably damaging |
Het |
| Morc2b |
T |
G |
17: 33,356,065 (GRCm39) |
Q569P |
probably benign |
Het |
| Mtrf1 |
A |
G |
14: 79,639,111 (GRCm39) |
E81G |
probably damaging |
Het |
| Nap1l1 |
T |
A |
10: 111,326,914 (GRCm39) |
D158E |
probably benign |
Het |
| Nckap5l |
T |
A |
15: 99,320,699 (GRCm39) |
T1285S |
probably damaging |
Het |
| Nsrp1 |
A |
T |
11: 76,936,612 (GRCm39) |
M528K |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 101,658,529 (GRCm39) |
A1605V |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,627,878 (GRCm39) |
L453P |
probably damaging |
Het |
| Ofd1 |
T |
C |
X: 165,210,210 (GRCm39) |
Y205C |
probably benign |
Het |
| Or2ag12 |
T |
A |
7: 106,276,877 (GRCm39) |
N272I |
probably damaging |
Het |
| Or2n1c |
A |
G |
17: 38,519,355 (GRCm39) |
Y73C |
probably damaging |
Het |
| Or4c125 |
T |
A |
2: 89,170,640 (GRCm39) |
N2I |
probably damaging |
Het |
| Or52k2 |
A |
T |
7: 102,253,777 (GRCm39) |
D72V |
probably damaging |
Het |
| Or7a40 |
T |
A |
16: 16,491,447 (GRCm39) |
M133L |
probably benign |
Het |
| Patl1 |
T |
C |
19: 11,898,782 (GRCm39) |
L159P |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,949,134 (GRCm39) |
T1045I |
probably damaging |
Het |
| Phaf1 |
T |
A |
8: 105,973,132 (GRCm39) |
D247E |
possibly damaging |
Het |
| Pik3ca |
A |
G |
3: 32,505,903 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,451,747 (GRCm39) |
I2183F |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,073,372 (GRCm39) |
R319H |
probably damaging |
Het |
| Pnkd |
G |
A |
1: 74,391,008 (GRCm39) |
G334D |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,691,449 (GRCm39) |
Y251C |
probably damaging |
Het |
| Rab11b |
A |
T |
17: 33,979,209 (GRCm39) |
Y10N |
probably damaging |
Het |
| Rfc1 |
G |
A |
5: 65,476,867 (GRCm39) |
R4W |
probably damaging |
Het |
| Rgs19 |
A |
T |
2: 181,331,276 (GRCm39) |
F119Y |
probably damaging |
Het |
| Safb |
A |
G |
17: 56,912,821 (GRCm39) |
H883R |
probably benign |
Het |
| Serpine1 |
G |
A |
5: 137,096,601 (GRCm39) |
Q227* |
probably null |
Het |
| Slc25a13 |
A |
G |
6: 6,096,668 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,308 (GRCm39) |
T502S |
possibly damaging |
Het |
| Sox4 |
T |
C |
13: 29,136,631 (GRCm39) |
D125G |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,599 (GRCm39) |
D407G |
probably damaging |
Het |
| Stag3 |
C |
T |
5: 138,298,400 (GRCm39) |
T731I |
probably damaging |
Het |
| Thada |
G |
T |
17: 84,617,470 (GRCm39) |
P1349T |
probably damaging |
Het |
| Tmem245 |
C |
A |
4: 56,937,964 (GRCm39) |
V195F |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,898,055 (GRCm39) |
H901R |
probably benign |
Het |
| Trim39 |
A |
T |
17: 36,579,645 (GRCm39) |
D103E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,562,304 (GRCm39) |
V28847E |
probably damaging |
Het |
| Tubb1 |
A |
T |
2: 174,297,484 (GRCm39) |
D31V |
possibly damaging |
Het |
| Ush1g |
A |
G |
11: 115,209,280 (GRCm39) |
S305P |
probably damaging |
Het |
| Vmn1r191 |
A |
T |
13: 22,362,952 (GRCm39) |
N267K |
possibly damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,038 (GRCm39) |
Y241N |
probably damaging |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,235 (GRCm39) |
N419D |
probably damaging |
Het |
| Vps35 |
T |
C |
8: 86,005,623 (GRCm39) |
D326G |
possibly damaging |
Het |
| Xdh |
A |
G |
17: 74,199,746 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Xpc |
A |
C |
6: 91,478,007 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
T |
C |
13: 67,973,282 (GRCm39) |
Y104H |
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 |
|
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'- TAGCCCAGGAGTCCATCATG -3'
(R):5'- GTTCATCTCGATCTGGGCTG -3'
Sequencing Primer
(F):5'- TCCATCATGGACATTGAAAATGAG -3'
(R):5'- CATCTCGATCTGGGCTGAAGTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation