Incidental Mutation 'R0836:Myom2'
| ID |
77917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom2
|
| Ensembl Gene |
ENSMUSG00000031461 |
| Gene Name |
myomesin 2 |
| Synonyms |
|
| MMRRC Submission |
039015-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R0836 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
15107653-15183410 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 15182924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 1454
(K1454*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033842]
|
| AlphaFold |
Q14BI5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033842
AA Change: K1454*
|
| SMART Domains |
Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: K1454*
| 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: ENSMUST00000140033
|
| Meta Mutation Damage Score |
0.9647 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.2%
|
| Validation Efficiency |
100% (102/102) |
| 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: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
A |
G |
5: 139,349,875 (GRCm39) |
V58A |
possibly damaging |
Het |
| 4932415M13Rik |
A |
T |
17: 54,031,374 (GRCm39) |
|
noncoding transcript |
Het |
| A930003A15Rik |
T |
C |
16: 19,702,622 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
A |
T |
11: 109,931,390 (GRCm39) |
D1253E |
possibly damaging |
Het |
| Acsm3 |
T |
C |
7: 119,376,323 (GRCm39) |
I350T |
possibly damaging |
Het |
| Adcy9 |
T |
C |
16: 4,237,135 (GRCm39) |
D92G |
possibly damaging |
Het |
| Aldh9a1 |
G |
A |
1: 167,177,824 (GRCm39) |
G7D |
probably benign |
Het |
| Alg14 |
A |
G |
3: 121,092,259 (GRCm39) |
H34R |
probably damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,307,772 (GRCm39) |
N337S |
probably damaging |
Het |
| Apoa2 |
T |
A |
1: 171,052,948 (GRCm39) |
|
probably benign |
Het |
| Asphd2 |
A |
T |
5: 112,539,635 (GRCm39) |
L66H |
probably damaging |
Het |
| Astl |
T |
C |
2: 127,184,339 (GRCm39) |
F21L |
probably benign |
Het |
| Bptf |
C |
A |
11: 107,001,638 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,328,775 (GRCm39) |
|
probably benign |
Het |
| Camk4 |
G |
T |
18: 33,072,507 (GRCm39) |
S20I |
unknown |
Het |
| Ccdc85a |
T |
A |
11: 28,533,296 (GRCm39) |
I83F |
probably damaging |
Het |
| Ccnt2 |
T |
A |
1: 127,730,131 (GRCm39) |
M336K |
probably benign |
Het |
| Cd209e |
G |
T |
8: 3,903,205 (GRCm39) |
D62E |
probably benign |
Het |
| Ceacam23 |
C |
A |
7: 17,638,906 (GRCm39) |
A301E |
possibly damaging |
Het |
| Ces1f |
A |
T |
8: 93,996,652 (GRCm39) |
S214T |
probably damaging |
Het |
| Cfap43 |
C |
A |
19: 47,804,285 (GRCm39) |
V304L |
probably benign |
Het |
| Col26a1 |
A |
G |
5: 136,794,154 (GRCm39) |
|
probably null |
Het |
| Cpa5 |
T |
C |
6: 30,623,210 (GRCm39) |
S124P |
probably damaging |
Het |
| Crtc1 |
A |
G |
8: 70,845,663 (GRCm39) |
V306A |
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,047,563 (GRCm39) |
|
probably benign |
Het |
| D17H6S53E |
A |
T |
17: 35,346,385 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 49,966,215 (GRCm39) |
V20A |
probably damaging |
Het |
| Dnah11 |
G |
A |
12: 118,160,397 (GRCm39) |
A111V |
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,697,027 (GRCm39) |
H77R |
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,423,882 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,410,317 (GRCm39) |
N611S |
probably benign |
Het |
| Erich6 |
A |
C |
3: 58,526,365 (GRCm39) |
|
probably benign |
Het |
| Fam217b |
T |
C |
2: 178,062,782 (GRCm39) |
S249P |
probably benign |
Het |
| Fezf1 |
T |
C |
6: 23,246,998 (GRCm39) |
H278R |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,199,275 (GRCm39) |
Y649N |
probably damaging |
Het |
| Ftdc2 |
G |
A |
16: 58,455,886 (GRCm39) |
S129L |
probably damaging |
Het |
| Grap |
T |
A |
11: 61,551,065 (GRCm39) |
D32E |
possibly damaging |
Het |
| Hipk1 |
A |
G |
3: 103,661,612 (GRCm39) |
S670P |
probably damaging |
Het |
| Iho1 |
A |
T |
9: 108,282,000 (GRCm39) |
C563S |
probably benign |
Het |
| Ilrun |
A |
T |
17: 28,005,112 (GRCm39) |
S148R |
probably damaging |
Het |
| Itga2 |
A |
G |
13: 114,993,215 (GRCm39) |
V800A |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,020,032 (GRCm39) |
M845L |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,720,953 (GRCm39) |
K339R |
probably damaging |
Het |
| Itpka |
T |
A |
2: 119,581,312 (GRCm39) |
N448K |
probably damaging |
Het |
| Jak3 |
A |
C |
8: 72,136,622 (GRCm39) |
N643T |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,727,328 (GRCm39) |
V627E |
probably damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,726,238 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,938,519 (GRCm39) |
|
probably null |
Het |
| Lamp1 |
T |
A |
8: 13,222,654 (GRCm39) |
F279L |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,388,675 (GRCm39) |
|
probably null |
Het |
| Mark2 |
A |
G |
19: 7,263,189 (GRCm39) |
Y193H |
probably damaging |
Het |
| Mcrs1 |
T |
C |
15: 99,141,330 (GRCm39) |
|
probably benign |
Het |
| Mtnr1a |
A |
T |
8: 45,540,974 (GRCm39) |
I312F |
probably benign |
Het |
| Nfkbia |
C |
A |
12: 55,537,561 (GRCm39) |
A211S |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,390,132 (GRCm39) |
H105R |
probably damaging |
Het |
| Or56b1b |
T |
C |
7: 108,164,205 (GRCm39) |
T266A |
possibly damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,081 (GRCm39) |
I13F |
probably benign |
Het |
| Otog |
C |
T |
7: 45,918,786 (GRCm39) |
T954I |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,663,738 (GRCm39) |
T926A |
probably damaging |
Het |
| Plec |
GGCAGCAG |
GGCAGCAGCAG |
15: 76,066,107 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,535,360 (GRCm39) |
|
probably benign |
Het |
| Pmch |
A |
G |
10: 87,927,086 (GRCm39) |
I30V |
probably benign |
Het |
| Ppat |
A |
C |
5: 77,070,348 (GRCm39) |
Y157D |
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Rab27b |
T |
C |
18: 70,120,112 (GRCm39) |
|
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,867,153 (GRCm39) |
Y152H |
probably damaging |
Het |
| Rasd1 |
A |
T |
11: 59,855,379 (GRCm39) |
F85I |
probably damaging |
Het |
| Rbp3 |
T |
G |
14: 33,678,595 (GRCm39) |
S848A |
possibly damaging |
Het |
| Rgs1 |
A |
T |
1: 144,123,671 (GRCm39) |
S85T |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,793,759 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,497,709 (GRCm39) |
|
probably null |
Het |
| Shc1 |
A |
G |
3: 89,330,276 (GRCm39) |
D70G |
probably damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,094,197 (GRCm39) |
Y245C |
possibly damaging |
Het |
| Slc25a1 |
T |
A |
16: 17,745,300 (GRCm39) |
H78L |
probably benign |
Het |
| Slc30a7 |
T |
A |
3: 115,783,789 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,225,049 (GRCm39) |
T397A |
probably benign |
Het |
| Slc51a |
T |
A |
16: 32,294,667 (GRCm39) |
T306S |
probably benign |
Het |
| Sorcs3 |
G |
A |
19: 48,475,833 (GRCm39) |
V231I |
probably benign |
Het |
| Sp100 |
A |
T |
1: 85,627,465 (GRCm39) |
I86L |
probably damaging |
Het |
| Spata31e5 |
A |
G |
1: 28,816,902 (GRCm39) |
S377P |
possibly damaging |
Het |
| Stard9 |
T |
G |
2: 120,527,480 (GRCm39) |
S1246A |
possibly damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,740,843 (GRCm39) |
S116R |
probably damaging |
Het |
| Tas2r105 |
T |
C |
6: 131,664,393 (GRCm39) |
I12V |
probably benign |
Het |
| Tas2r121 |
A |
G |
6: 132,677,325 (GRCm39) |
S216P |
probably damaging |
Het |
| Tax1bp1 |
C |
T |
6: 52,718,925 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,978,904 (GRCm39) |
D48G |
probably damaging |
Het |
| Tex24 |
A |
T |
8: 27,834,748 (GRCm39) |
H92L |
possibly damaging |
Het |
| Tgm3 |
C |
T |
2: 129,868,602 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
T |
G |
13: 92,894,546 (GRCm39) |
D659A |
probably damaging |
Het |
| Tmed11 |
A |
T |
5: 108,943,175 (GRCm39) |
M1K |
probably null |
Het |
| Tmpo |
A |
T |
10: 90,997,815 (GRCm39) |
C657* |
probably null |
Het |
| Unc5a |
C |
A |
13: 55,151,746 (GRCm39) |
N56K |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,592,336 (GRCm39) |
D308G |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,554,995 (GRCm39) |
N81S |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,721 (GRCm39) |
D267E |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,822 (GRCm39) |
H231L |
possibly damaging |
Het |
| Wrn |
A |
G |
8: 33,785,034 (GRCm39) |
I446T |
possibly damaging |
Het |
| Zfp266 |
G |
A |
9: 20,411,095 (GRCm39) |
H361Y |
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 |
|
|
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 |
|
R2049:Myom2
|
UTSW |
8 |
15,156,379 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- CCAAGTATGTCAGCCTGACCATCC -3'
(R):5'- TCAGCCTCACACGAGTCTTAGAGC -3'
Sequencing Primer
(F):5'- TGACCATCCAGGGGGTGAC -3'
(R):5'- CACACGAGTCTTAGAGCCTTATG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation