Incidental Mutation 'R2049:Myom2'
| ID |
226226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom2
|
| Ensembl Gene |
ENSMUSG00000031461 |
| Gene Name |
myomesin 2 |
| Synonyms |
|
| MMRRC Submission |
040056-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R2049 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
15107653-15183410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 15156379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 742
(I742S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033842]
|
| AlphaFold |
Q14BI5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033842
AA Change: I742S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: I742S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
87 |
N/A |
INTRINSIC |
|
coiled coil region
|
97 |
129 |
N/A |
INTRINSIC |
|
IG
|
160 |
247 |
7.7e-5 |
SMART |
|
IG
|
284 |
373 |
8.01e-3 |
SMART |
|
FN3
|
383 |
466 |
1.5e-14 |
SMART |
|
FN3
|
511 |
594 |
1.79e-12 |
SMART |
|
FN3
|
612 |
693 |
1.95e-13 |
SMART |
|
FN3
|
711 |
794 |
8.69e-11 |
SMART |
|
FN3
|
813 |
896 |
1.86e-10 |
SMART |
|
IG_like
|
913 |
999 |
1.58e2 |
SMART |
|
Blast:IG_like
|
1021 |
1106 |
1e-44 |
BLAST |
|
IG_like
|
1135 |
1215 |
2.27e1 |
SMART |
|
Blast:IG_like
|
1227 |
1321 |
9e-51 |
BLAST |
|
IGc2
|
1357 |
1425 |
4.96e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135393
|
| Meta Mutation Damage Score |
0.3930 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (118/122) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,822,444 (GRCm39) |
R8* |
probably null |
Het |
| Abhd17a |
A |
G |
10: 80,421,440 (GRCm39) |
|
probably null |
Het |
| Acsm1 |
A |
G |
7: 119,255,262 (GRCm39) |
R415G |
probably damaging |
Het |
| Acta1 |
G |
T |
8: 124,618,803 (GRCm39) |
T360N |
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,508,049 (GRCm39) |
S141T |
probably benign |
Het |
| Adgrd1 |
G |
T |
5: 129,192,159 (GRCm39) |
K76N |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,030,695 (GRCm39) |
E202G |
probably damaging |
Het |
| Agps |
T |
A |
2: 75,689,270 (GRCm39) |
M156K |
probably benign |
Het |
| Agxt |
A |
G |
1: 93,065,037 (GRCm39) |
I149V |
probably benign |
Het |
| Aoc1l1 |
T |
A |
6: 48,954,689 (GRCm39) |
L609* |
probably null |
Het |
| Aqp2 |
A |
G |
15: 99,477,247 (GRCm39) |
T72A |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,725,938 (GRCm39) |
D54E |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,033,950 (GRCm39) |
E202* |
probably null |
Het |
| Bmp5 |
A |
G |
9: 75,801,072 (GRCm39) |
I401V |
probably damaging |
Het |
| Bscl2 |
T |
C |
19: 8,822,684 (GRCm39) |
|
probably null |
Het |
| Capn9 |
G |
A |
8: 125,332,450 (GRCm39) |
G430R |
possibly damaging |
Het |
| Cd55 |
C |
T |
1: 130,377,160 (GRCm39) |
V333I |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,497,151 (GRCm39) |
E697G |
probably damaging |
Het |
| Cerk |
G |
A |
15: 86,027,009 (GRCm39) |
S167L |
probably benign |
Het |
| Chrm3 |
T |
A |
13: 9,928,371 (GRCm39) |
I222F |
probably damaging |
Het |
| Clcn6 |
A |
G |
4: 148,108,594 (GRCm39) |
F145S |
possibly damaging |
Het |
| Cnksr1 |
A |
G |
4: 133,956,939 (GRCm39) |
Y488H |
probably damaging |
Het |
| Cntrl |
CAGAG |
CAG |
2: 35,012,818 (GRCm39) |
|
probably null |
Het |
| Commd10 |
A |
T |
18: 47,096,814 (GRCm39) |
T74S |
probably benign |
Het |
| Cyp4f39 |
T |
C |
17: 32,701,112 (GRCm39) |
F201L |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,796,887 (GRCm39) |
T860A |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,204,715 (GRCm39) |
I1253N |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,307,830 (GRCm39) |
M3048K |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,935,509 (GRCm39) |
M1970T |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,122,737 (GRCm39) |
D62E |
possibly damaging |
Het |
| Dsel |
T |
C |
1: 111,787,187 (GRCm39) |
N1116S |
probably benign |
Het |
| Dusp7 |
C |
T |
9: 106,251,096 (GRCm39) |
T407M |
probably damaging |
Het |
| Efnb1 |
A |
G |
X: 98,191,123 (GRCm39) |
Y343C |
probably damaging |
Het |
| Eif1ad8 |
A |
G |
12: 87,564,046 (GRCm39) |
D127G |
unknown |
Het |
| Entpd5 |
A |
G |
12: 84,443,632 (GRCm39) |
I12T |
probably benign |
Het |
| Espn |
T |
C |
4: 152,205,714 (GRCm39) |
E408G |
probably damaging |
Het |
| Fhip1b |
A |
T |
7: 105,039,046 (GRCm39) |
D64E |
probably damaging |
Het |
| Gdpd3 |
A |
G |
7: 126,367,766 (GRCm39) |
T200A |
probably damaging |
Het |
| Gli1 |
A |
G |
10: 127,172,596 (GRCm39) |
L182P |
probably damaging |
Het |
| Gm5134 |
G |
A |
10: 75,840,718 (GRCm39) |
A521T |
possibly damaging |
Het |
| Gprasp1 |
G |
A |
X: 134,702,791 (GRCm39) |
E995K |
possibly damaging |
Het |
| H2-M10.1 |
T |
C |
17: 36,636,108 (GRCm39) |
D153G |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,941,926 (GRCm39) |
M254K |
possibly damaging |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,708,533 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
AGGG |
AGG |
1: 135,902,590 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,898,376 (GRCm39) |
Q730L |
probably benign |
Het |
| Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,329,988 (GRCm39) |
V484A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 66,993,777 (GRCm39) |
L86* |
probably null |
Het |
| Kat5 |
T |
A |
19: 5,655,713 (GRCm39) |
|
probably null |
Het |
| Kif14 |
A |
G |
1: 136,414,818 (GRCm39) |
N768S |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,437,905 (GRCm39) |
E1199G |
possibly damaging |
Het |
| Klhl29 |
A |
G |
12: 5,187,876 (GRCm39) |
S163P |
probably damaging |
Het |
| Kmt2c |
C |
A |
5: 25,490,077 (GRCm39) |
Q4287H |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,453,591 (GRCm39) |
Q265L |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,248,895 (GRCm39) |
C7210Y |
probably damaging |
Het |
| Mx2 |
G |
A |
16: 97,339,903 (GRCm39) |
E20K |
probably benign |
Het |
| Narf |
A |
T |
11: 121,141,195 (GRCm39) |
R310* |
probably null |
Het |
| Nktr |
T |
A |
9: 121,570,760 (GRCm39) |
D167E |
probably damaging |
Het |
| Nle1 |
A |
G |
11: 82,796,192 (GRCm39) |
W183R |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,108,871 (GRCm39) |
N425S |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Optc |
A |
T |
1: 133,831,534 (GRCm39) |
|
probably null |
Het |
| Or4a27 |
A |
T |
2: 88,559,089 (GRCm39) |
Y285N |
probably damaging |
Het |
| Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
| Or4d5 |
T |
A |
9: 40,012,415 (GRCm39) |
I124L |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,748,036 (GRCm39) |
V37A |
probably benign |
Het |
| Or8g52 |
A |
T |
9: 39,631,411 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8s2 |
G |
A |
15: 98,276,277 (GRCm39) |
T238I |
possibly damaging |
Het |
| Otol1 |
T |
A |
3: 69,926,169 (GRCm39) |
F115I |
probably benign |
Het |
| Parp8 |
T |
A |
13: 117,031,422 (GRCm39) |
D430V |
probably benign |
Het |
| Pex7 |
T |
A |
10: 19,770,061 (GRCm39) |
H123L |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,909 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,445,137 (GRCm39) |
D3670N |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,067,374 (GRCm39) |
T1331A |
probably benign |
Het |
| Plekha4 |
A |
G |
7: 45,203,222 (GRCm39) |
D704G |
probably benign |
Het |
| Plxnb2 |
T |
A |
15: 89,043,205 (GRCm39) |
N1453I |
probably damaging |
Het |
| Pms1 |
T |
A |
1: 53,321,147 (GRCm39) |
I29F |
probably damaging |
Het |
| Ppp1r1a |
G |
A |
15: 103,439,833 (GRCm39) |
T153I |
probably damaging |
Het |
| Pramel12 |
T |
A |
4: 143,143,441 (GRCm39) |
L69Q |
probably damaging |
Het |
| Prelp |
C |
T |
1: 133,842,869 (GRCm39) |
R92K |
probably benign |
Het |
| Ptpre |
A |
G |
7: 135,272,424 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,376,465 (GRCm39) |
I1312N |
probably damaging |
Het |
| Ren1 |
C |
G |
1: 133,278,516 (GRCm39) |
|
probably null |
Het |
| Rims1 |
C |
T |
1: 22,635,516 (GRCm39) |
C155Y |
probably damaging |
Het |
| Ro60 |
T |
C |
1: 143,635,772 (GRCm39) |
D458G |
probably benign |
Het |
| Slitrk6 |
T |
G |
14: 110,988,226 (GRCm39) |
T494P |
probably benign |
Het |
| Sltm |
G |
A |
9: 70,488,583 (GRCm39) |
G578S |
probably benign |
Het |
| Smyd5 |
A |
G |
6: 85,421,300 (GRCm39) |
E338G |
probably benign |
Het |
| Snx2 |
G |
A |
18: 53,327,516 (GRCm39) |
V81M |
probably damaging |
Het |
| Sp2 |
G |
T |
11: 96,852,191 (GRCm39) |
N244K |
probably benign |
Het |
| Sspo |
C |
A |
6: 48,437,697 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
C |
6: 48,440,465 (GRCm39) |
D1568A |
probably benign |
Het |
| Ssrp1 |
T |
C |
2: 84,871,771 (GRCm39) |
|
probably benign |
Het |
| Syt2 |
ACTCTCTCT |
ACTCTCTCTCT |
1: 134,674,479 (GRCm39) |
|
probably benign |
Het |
| Syt7 |
G |
A |
19: 10,416,577 (GRCm39) |
R138Q |
probably benign |
Het |
| Taar7f |
T |
C |
10: 23,926,323 (GRCm39) |
Y306H |
possibly damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,637,291 (GRCm39) |
|
probably null |
Het |
| Tesl1 |
T |
A |
X: 23,773,549 (GRCm39) |
V350E |
probably benign |
Het |
| Tex261 |
A |
G |
6: 83,749,241 (GRCm39) |
Y119H |
probably damaging |
Het |
| Tmem131l |
T |
G |
3: 83,850,095 (GRCm39) |
E234D |
probably damaging |
Het |
| Tnnt2 |
TG |
TGG |
1: 135,774,499 (GRCm39) |
|
probably benign |
Het |
| Top6bl |
A |
G |
19: 4,748,633 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
| Ubap1 |
C |
T |
4: 41,379,257 (GRCm39) |
A157V |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,204,518 (GRCm39) |
T4810M |
probably damaging |
Het |
| Uso1 |
G |
A |
5: 92,329,795 (GRCm39) |
G427R |
probably damaging |
Het |
| Usp15 |
A |
T |
10: 122,955,042 (GRCm39) |
V912D |
probably damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,408,943 (GRCm39) |
S90P |
probably damaging |
Het |
| Vmn1r32 |
T |
C |
6: 66,530,545 (GRCm39) |
K77R |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,742,312 (GRCm39) |
K229E |
probably benign |
Het |
| Vmn2r106 |
A |
G |
17: 20,488,566 (GRCm39) |
V611A |
possibly damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,907,178 (GRCm39) |
F167I |
probably damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,751,355 (GRCm39) |
P804H |
probably damaging |
Het |
| Zdhhc3 |
T |
C |
9: 122,929,602 (GRCm39) |
D11G |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,671,809 (GRCm39) |
T1324A |
probably benign |
Het |
| Zfp281 |
GCGGCAGCTCCGGCAGC |
GCGGCAGCTCCGGCAGCTCCGGCAGC |
1: 136,553,091 (GRCm39) |
|
probably benign |
Het |
| Zfp608 |
G |
T |
18: 55,028,637 (GRCm39) |
L1259I |
probably damaging |
Het |
|
| Other mutations in Myom2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Myom2
|
APN |
8 |
15,119,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00426:Myom2
|
APN |
8 |
15,119,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00503:Myom2
|
APN |
8 |
15,164,289 (GRCm39) |
splice site |
probably null |
|
|
IGL01515:Myom2
|
APN |
8 |
15,172,655 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01649:Myom2
|
APN |
8 |
15,163,755 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01658:Myom2
|
APN |
8 |
15,127,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01786:Myom2
|
APN |
8 |
15,156,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01924:Myom2
|
APN |
8 |
15,119,685 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01929:Myom2
|
APN |
8 |
15,167,698 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02016:Myom2
|
APN |
8 |
15,175,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02511:Myom2
|
APN |
8 |
15,115,743 (GRCm39) |
missense |
probably benign |
|
|
IGL02558:Myom2
|
APN |
8 |
15,164,237 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02944:Myom2
|
APN |
8 |
15,154,065 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03052:Myom2
|
APN |
8 |
15,173,442 (GRCm39) |
splice site |
probably benign |
|
|
IGL03195:Myom2
|
APN |
8 |
15,161,844 (GRCm39) |
nonsense |
probably null |
|
|
IGL03288:Myom2
|
APN |
8 |
15,172,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03402:Myom2
|
APN |
8 |
15,115,731 (GRCm39) |
missense |
probably benign |
|
|
yomama
|
UTSW |
8 |
15,182,895 (GRCm39) |
missense |
probably benign |
0.10 |
|
yoyoma
|
UTSW |
8 |
15,182,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0069:Myom2
|
UTSW |
8 |
15,167,624 (GRCm39) |
missense |
probably benign |
|
|
R0116:Myom2
|
UTSW |
8 |
15,167,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Myom2
|
UTSW |
8 |
15,133,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0373:Myom2
|
UTSW |
8 |
15,148,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0463:Myom2
|
UTSW |
8 |
15,154,123 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0544:Myom2
|
UTSW |
8 |
15,119,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Myom2
|
UTSW |
8 |
15,119,783 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0634:Myom2
|
UTSW |
8 |
15,169,216 (GRCm39) |
splice site |
probably benign |
|
|
R0645:Myom2
|
UTSW |
8 |
15,167,698 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0730:Myom2
|
UTSW |
8 |
15,149,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0744:Myom2
|
UTSW |
8 |
15,182,924 (GRCm39) |
nonsense |
probably null |
|
|
R0836:Myom2
|
UTSW |
8 |
15,182,924 (GRCm39) |
nonsense |
probably null |
|
|
R1033:Myom2
|
UTSW |
8 |
15,158,934 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1103:Myom2
|
UTSW |
8 |
15,160,827 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1110:Myom2
|
UTSW |
8 |
15,172,413 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1208:Myom2
|
UTSW |
8 |
15,134,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Myom2
|
UTSW |
8 |
15,134,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1353:Myom2
|
UTSW |
8 |
15,156,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Myom2
|
UTSW |
8 |
15,172,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Myom2
|
UTSW |
8 |
15,154,059 (GRCm39) |
splice site |
probably benign |
|
|
R1576:Myom2
|
UTSW |
8 |
15,134,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Myom2
|
UTSW |
8 |
15,115,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1884:Myom2
|
UTSW |
8 |
15,164,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1908:Myom2
|
UTSW |
8 |
15,131,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Myom2
|
UTSW |
8 |
15,182,599 (GRCm39) |
splice site |
probably null |
|
|
R1977:Myom2
|
UTSW |
8 |
15,135,263 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2018:Myom2
|
UTSW |
8 |
15,181,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Myom2
|
UTSW |
8 |
15,134,555 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2314:Myom2
|
UTSW |
8 |
15,113,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2350:Myom2
|
UTSW |
8 |
15,158,835 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2358:Myom2
|
UTSW |
8 |
15,162,018 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2904:Myom2
|
UTSW |
8 |
15,148,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3418:Myom2
|
UTSW |
8 |
15,135,294 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3606:Myom2
|
UTSW |
8 |
15,119,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3607:Myom2
|
UTSW |
8 |
15,119,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Myom2
|
UTSW |
8 |
15,119,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3756:Myom2
|
UTSW |
8 |
15,152,650 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3902:Myom2
|
UTSW |
8 |
15,154,165 (GRCm39) |
missense |
probably benign |
|
|
R3951:Myom2
|
UTSW |
8 |
15,134,556 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4240:Myom2
|
UTSW |
8 |
15,182,895 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4361:Myom2
|
UTSW |
8 |
15,162,018 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4581:Myom2
|
UTSW |
8 |
15,156,459 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4736:Myom2
|
UTSW |
8 |
15,131,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5010:Myom2
|
UTSW |
8 |
15,133,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5108:Myom2
|
UTSW |
8 |
15,182,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5370:Myom2
|
UTSW |
8 |
15,149,343 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5427:Myom2
|
UTSW |
8 |
15,163,764 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5498:Myom2
|
UTSW |
8 |
15,179,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5504:Myom2
|
UTSW |
8 |
15,178,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Myom2
|
UTSW |
8 |
15,152,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5743:Myom2
|
UTSW |
8 |
15,130,914 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5745:Myom2
|
UTSW |
8 |
15,172,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5844:Myom2
|
UTSW |
8 |
15,181,182 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5854:Myom2
|
UTSW |
8 |
15,158,478 (GRCm39) |
missense |
probably benign |
|
|
R6141:Myom2
|
UTSW |
8 |
15,113,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6209:Myom2
|
UTSW |
8 |
15,154,173 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6248:Myom2
|
UTSW |
8 |
15,148,472 (GRCm39) |
splice site |
probably null |
|
|
R6378:Myom2
|
UTSW |
8 |
15,149,356 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6829:Myom2
|
UTSW |
8 |
15,172,643 (GRCm39) |
nonsense |
probably null |
|
|
R6913:Myom2
|
UTSW |
8 |
15,115,710 (GRCm39) |
missense |
probably benign |
|
|
R6957:Myom2
|
UTSW |
8 |
15,167,741 (GRCm39) |
missense |
probably null |
0.42 |
|
R6958:Myom2
|
UTSW |
8 |
15,167,741 (GRCm39) |
missense |
probably null |
0.42 |
|
R6960:Myom2
|
UTSW |
8 |
15,167,741 (GRCm39) |
missense |
probably null |
0.42 |
|
R6961:Myom2
|
UTSW |
8 |
15,167,741 (GRCm39) |
missense |
probably null |
0.42 |
|
R6962:Myom2
|
UTSW |
8 |
15,167,741 (GRCm39) |
missense |
probably null |
0.42 |
|
R6999:Myom2
|
UTSW |
8 |
15,134,531 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7148:Myom2
|
UTSW |
8 |
15,134,577 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7210:Myom2
|
UTSW |
8 |
15,154,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Myom2
|
UTSW |
8 |
15,148,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7463:Myom2
|
UTSW |
8 |
15,167,679 (GRCm39) |
missense |
probably null |
0.94 |
|
R7535:Myom2
|
UTSW |
8 |
15,167,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Myom2
|
UTSW |
8 |
15,172,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7590:Myom2
|
UTSW |
8 |
15,167,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Myom2
|
UTSW |
8 |
15,161,717 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7794:Myom2
|
UTSW |
8 |
15,133,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Myom2
|
UTSW |
8 |
15,158,454 (GRCm39) |
missense |
probably benign |
|
|
R7948:Myom2
|
UTSW |
8 |
15,135,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8094:Myom2
|
UTSW |
8 |
15,119,418 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8268:Myom2
|
UTSW |
8 |
15,179,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Myom2
|
UTSW |
8 |
15,182,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8514:Myom2
|
UTSW |
8 |
15,175,153 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8539:Myom2
|
UTSW |
8 |
15,164,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8790:Myom2
|
UTSW |
8 |
15,169,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Myom2
|
UTSW |
8 |
15,164,169 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8895:Myom2
|
UTSW |
8 |
15,152,589 (GRCm39) |
nonsense |
probably null |
|
|
R9024:Myom2
|
UTSW |
8 |
15,113,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9129:Myom2
|
UTSW |
8 |
15,154,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Myom2
|
UTSW |
8 |
15,178,804 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9237:Myom2
|
UTSW |
8 |
15,152,591 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9321:Myom2
|
UTSW |
8 |
15,172,464 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9341:Myom2
|
UTSW |
8 |
15,134,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9343:Myom2
|
UTSW |
8 |
15,134,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9375:Myom2
|
UTSW |
8 |
15,149,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9455:Myom2
|
UTSW |
8 |
15,156,293 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9563:Myom2
|
UTSW |
8 |
15,158,399 (GRCm39) |
nonsense |
probably null |
|
|
R9565:Myom2
|
UTSW |
8 |
15,158,399 (GRCm39) |
nonsense |
probably null |
|
|
RF001:Myom2
|
UTSW |
8 |
15,131,418 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTGACTCTAGAGCTGACTG -3'
(R):5'- ACCATGCCCTCTTAATTCTAGG -3'
Sequencing Primer
(F):5'- GACTCTAGAGCTGACTGATTGG -3'
(R):5'- CTACTTTGTCAGGATCAAGGGACC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation