Incidental Mutation 'R6313:Myom1'
| ID |
510558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom1
|
| Ensembl Gene |
ENSMUSG00000024049 |
| Gene Name |
myomesin 1 |
| Synonyms |
skelemin, D430047A17Rik |
| MMRRC Submission |
044470-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6313 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71326455-71433851 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71389483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 911
(D911V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024847]
[ENSMUST00000073211]
[ENSMUST00000179759]
|
| AlphaFold |
Q62234 |
| PDB Structure |
Skelemin Immunoglobulin C2 like domain 4 [SOLUTION NMR]
Skelemin Association with alfa2b,betta3 Integrin: A Structural Model [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024847
|
| SMART Domains |
Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
|
IG
|
264 |
351 |
1.16e-8 |
SMART |
|
IG
|
397 |
480 |
5.84e-5 |
SMART |
|
FN3
|
490 |
573 |
4.48e-13 |
SMART |
|
FN3
|
618 |
701 |
1.61e-14 |
SMART |
|
FN3
|
719 |
800 |
1.43e-11 |
SMART |
|
FN3
|
818 |
904 |
4.99e-11 |
SMART |
|
FN3
|
923 |
1008 |
2.04e-16 |
SMART |
|
IG
|
1025 |
1110 |
3.1e0 |
SMART |
|
IG_like
|
1133 |
1219 |
1.34e1 |
SMART |
|
IG_like
|
1253 |
1319 |
4.79e0 |
SMART |
|
IG_like
|
1356 |
1433 |
1.54e2 |
SMART |
|
IGc2
|
1469 |
1537 |
2.05e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073211
AA Change: D911V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: D911V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
|
IG
|
264 |
351 |
1.16e-8 |
SMART |
|
IG
|
397 |
480 |
5.84e-5 |
SMART |
|
FN3
|
490 |
573 |
4.48e-13 |
SMART |
|
FN3
|
618 |
701 |
1.61e-14 |
SMART |
|
FN3
|
719 |
800 |
1.43e-11 |
SMART |
|
low complexity region
|
857 |
870 |
N/A |
INTRINSIC |
|
FN3
|
916 |
1002 |
4.99e-11 |
SMART |
|
FN3
|
1021 |
1106 |
2.04e-16 |
SMART |
|
IG
|
1123 |
1208 |
3.1e0 |
SMART |
|
IG_like
|
1231 |
1317 |
1.34e1 |
SMART |
|
IG_like
|
1351 |
1417 |
4.79e0 |
SMART |
|
IG_like
|
1454 |
1531 |
1.54e2 |
SMART |
|
IGc2
|
1567 |
1635 |
2.05e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179759
|
| SMART Domains |
Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
|
IG
|
264 |
351 |
1.16e-8 |
SMART |
|
IG
|
397 |
480 |
5.84e-5 |
SMART |
|
FN3
|
490 |
573 |
4.48e-13 |
SMART |
|
FN3
|
618 |
701 |
1.61e-14 |
SMART |
|
FN3
|
719 |
800 |
1.43e-11 |
SMART |
|
FN3
|
818 |
904 |
4.99e-11 |
SMART |
|
FN3
|
923 |
1008 |
2.04e-16 |
SMART |
|
IG
|
1025 |
1110 |
3.1e0 |
SMART |
|
IG_like
|
1133 |
1219 |
1.34e1 |
SMART |
|
IG_like
|
1253 |
1319 |
4.79e0 |
SMART |
|
IG_like
|
1356 |
1433 |
1.54e2 |
SMART |
|
IGc2
|
1469 |
1537 |
2.05e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (70/70) |
| 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 (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,126,344 (GRCm39) |
F1167L |
probably damaging |
Het |
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| Acaca |
C |
T |
11: 84,183,755 (GRCm39) |
T32I |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,508,670 (GRCm39) |
N348Y |
possibly damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,940,469 (GRCm39) |
D39G |
possibly damaging |
Het |
| Arid5b |
T |
C |
10: 67,933,412 (GRCm39) |
D587G |
possibly damaging |
Het |
| Brwd1 |
A |
G |
16: 95,809,141 (GRCm39) |
V1963A |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,410,204 (GRCm39) |
L34Q |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,907,579 (GRCm39) |
Q53R |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,308,530 (GRCm39) |
S1799L |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,935,936 (GRCm39) |
E457G |
probably benign |
Het |
| Cmtm1 |
A |
T |
8: 105,031,795 (GRCm39) |
M283K |
possibly damaging |
Het |
| Dcdc5 |
T |
C |
2: 106,198,516 (GRCm39) |
|
noncoding transcript |
Het |
| Decr1 |
T |
A |
4: 15,924,261 (GRCm39) |
M220L |
probably benign |
Het |
| Dgkg |
T |
G |
16: 22,338,311 (GRCm39) |
D592A |
probably damaging |
Het |
| Dkkl1 |
T |
C |
7: 44,860,862 (GRCm39) |
Q39R |
probably benign |
Het |
| Dyrk1a |
T |
A |
16: 94,460,373 (GRCm39) |
C10S |
possibly damaging |
Het |
| Efcab2 |
A |
T |
1: 178,308,936 (GRCm39) |
E146D |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,049,652 (GRCm39) |
V504A |
possibly damaging |
Het |
| Ermard |
T |
G |
17: 15,273,467 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
C |
15: 102,224,247 (GRCm39) |
V1266A |
probably benign |
Het |
| Fbxw22 |
A |
C |
9: 109,232,465 (GRCm39) |
V40G |
probably damaging |
Het |
| Gm3629 |
A |
T |
14: 17,834,409 (GRCm39) |
I194N |
possibly damaging |
Het |
| Gnai2 |
C |
T |
9: 107,497,296 (GRCm39) |
V33M |
possibly damaging |
Het |
| H2-DMb1 |
T |
C |
17: 34,376,506 (GRCm39) |
|
probably null |
Het |
| Hc |
T |
C |
2: 34,879,851 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
C |
13: 49,861,921 (GRCm39) |
S491P |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,899,799 (GRCm39) |
L500H |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,319,146 (GRCm39) |
T102S |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,373 (GRCm39) |
S1123P |
probably damaging |
Het |
| Mettl5 |
C |
A |
2: 69,702,071 (GRCm39) |
|
probably null |
Het |
| Mmp11 |
A |
G |
10: 75,759,818 (GRCm39) |
*4R |
probably null |
Het |
| Nid1 |
A |
G |
13: 13,638,367 (GRCm39) |
T96A |
probably benign |
Het |
| Nlrp4e |
G |
T |
7: 23,052,597 (GRCm39) |
V839L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,370,128 (GRCm39) |
|
probably null |
Het |
| Or8k35 |
T |
C |
2: 86,424,411 (GRCm39) |
T254A |
possibly damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,005,091 (GRCm39) |
H978R |
probably benign |
Het |
| Pde8b |
A |
T |
13: 95,178,508 (GRCm39) |
C537* |
probably null |
Het |
| Polr1b |
T |
C |
2: 128,967,366 (GRCm39) |
F920L |
probably damaging |
Het |
| Polr2f |
A |
G |
15: 79,035,573 (GRCm39) |
T87A |
probably damaging |
Het |
| Pon2 |
T |
A |
6: 5,272,421 (GRCm39) |
H133L |
probably damaging |
Het |
| Pou2af2 |
C |
T |
9: 51,201,481 (GRCm39) |
D192N |
probably damaging |
Het |
| Ptk2b |
T |
A |
14: 66,416,280 (GRCm39) |
E205V |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,314,357 (GRCm39) |
M343K |
probably benign |
Het |
| Rlf |
G |
A |
4: 121,005,807 (GRCm39) |
R1058W |
probably damaging |
Het |
| S100z |
T |
A |
13: 95,615,082 (GRCm39) |
K28* |
probably null |
Het |
| Scarf1 |
T |
A |
11: 75,411,141 (GRCm39) |
N273K |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,385,434 (GRCm39) |
I136M |
unknown |
Het |
| Sfrp2 |
A |
G |
3: 83,674,291 (GRCm39) |
D148G |
probably benign |
Het |
| Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
| Slc2a9 |
T |
G |
5: 38,610,464 (GRCm39) |
I112L |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,186,312 (GRCm39) |
Y972* |
probably null |
Het |
| Sntg1 |
T |
C |
1: 8,515,248 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,129,470 (GRCm39) |
N1180S |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,639,786 (GRCm39) |
D114G |
probably damaging |
Het |
| Suclg1 |
T |
C |
6: 73,233,192 (GRCm39) |
S46P |
probably damaging |
Het |
| Synj1 |
C |
T |
16: 90,743,703 (GRCm39) |
A1186T |
probably benign |
Het |
| Tas2r124 |
A |
G |
6: 132,732,410 (GRCm39) |
T240A |
probably benign |
Het |
| Tax1bp1 |
T |
C |
6: 52,721,341 (GRCm39) |
|
probably null |
Het |
| Tchh |
C |
A |
3: 93,355,158 (GRCm39) |
Q1533K |
unknown |
Het |
| Tmprss15 |
T |
C |
16: 78,759,058 (GRCm39) |
T887A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,536,937 (GRCm39) |
I34963V |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,078,878 (GRCm39) |
G1485D |
probably damaging |
Het |
| Usp9y |
G |
T |
Y: 1,385,355 (GRCm39) |
H633N |
probably benign |
Homo |
| Vmn2r99 |
A |
T |
17: 19,602,867 (GRCm39) |
N541Y |
probably damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,810,854 (GRCm39) |
N337K |
probably benign |
Het |
| Zfp260 |
T |
A |
7: 29,804,267 (GRCm39) |
C56S |
possibly damaging |
Het |
| Zfp457 |
C |
T |
13: 67,440,746 (GRCm39) |
E610K |
probably damaging |
Het |
|
| Other mutations in Myom1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Myom1
|
APN |
17 |
71,433,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00845:Myom1
|
APN |
17 |
71,391,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00904:Myom1
|
APN |
17 |
71,406,944 (GRCm39) |
splice site |
probably benign |
|
|
IGL00928:Myom1
|
APN |
17 |
71,396,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01025:Myom1
|
APN |
17 |
71,384,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Myom1
|
APN |
17 |
71,408,215 (GRCm39) |
splice site |
probably benign |
|
|
IGL01588:Myom1
|
APN |
17 |
71,424,432 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01614:Myom1
|
APN |
17 |
71,433,173 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01618:Myom1
|
APN |
17 |
71,406,988 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01619:Myom1
|
APN |
17 |
71,351,471 (GRCm39) |
splice site |
probably benign |
|
|
IGL01766:Myom1
|
APN |
17 |
71,384,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02105:Myom1
|
APN |
17 |
71,354,711 (GRCm39) |
splice site |
probably benign |
|
|
IGL02122:Myom1
|
APN |
17 |
71,399,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02184:Myom1
|
APN |
17 |
71,379,132 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02260:Myom1
|
APN |
17 |
71,415,310 (GRCm39) |
nonsense |
probably null |
|
|
IGL02486:Myom1
|
APN |
17 |
71,406,939 (GRCm39) |
splice site |
probably benign |
|
|
IGL02501:Myom1
|
APN |
17 |
71,379,076 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02642:Myom1
|
APN |
17 |
71,408,093 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02677:Myom1
|
APN |
17 |
71,391,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02719:Myom1
|
APN |
17 |
71,413,349 (GRCm39) |
splice site |
probably benign |
|
|
IGL02945:Myom1
|
APN |
17 |
71,399,088 (GRCm39) |
splice site |
probably benign |
|
|
IGL03086:Myom1
|
APN |
17 |
71,415,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03218:Myom1
|
APN |
17 |
71,391,311 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0107:Myom1
|
UTSW |
17 |
71,384,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0130:Myom1
|
UTSW |
17 |
71,352,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0133:Myom1
|
UTSW |
17 |
71,354,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Myom1
|
UTSW |
17 |
71,344,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Myom1
|
UTSW |
17 |
71,344,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0352:Myom1
|
UTSW |
17 |
71,352,744 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0396:Myom1
|
UTSW |
17 |
71,341,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Myom1
|
UTSW |
17 |
71,391,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Myom1
|
UTSW |
17 |
71,399,215 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Myom1
|
UTSW |
17 |
71,391,312 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0600:Myom1
|
UTSW |
17 |
71,427,643 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0699:Myom1
|
UTSW |
17 |
71,374,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0791:Myom1
|
UTSW |
17 |
71,428,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:Myom1
|
UTSW |
17 |
71,428,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0963:Myom1
|
UTSW |
17 |
71,384,762 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1324:Myom1
|
UTSW |
17 |
71,359,714 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2102:Myom1
|
UTSW |
17 |
71,408,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Myom1
|
UTSW |
17 |
71,371,592 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2336:Myom1
|
UTSW |
17 |
71,330,189 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2351:Myom1
|
UTSW |
17 |
71,341,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2442:Myom1
|
UTSW |
17 |
71,417,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Myom1
|
UTSW |
17 |
71,384,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2892:Myom1
|
UTSW |
17 |
71,341,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Myom1
|
UTSW |
17 |
71,408,215 (GRCm39) |
splice site |
probably benign |
|
|
R3440:Myom1
|
UTSW |
17 |
71,352,658 (GRCm39) |
splice site |
probably null |
|
|
R3842:Myom1
|
UTSW |
17 |
71,352,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4249:Myom1
|
UTSW |
17 |
71,399,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4329:Myom1
|
UTSW |
17 |
71,343,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Myom1
|
UTSW |
17 |
71,407,069 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4873:Myom1
|
UTSW |
17 |
71,379,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Myom1
|
UTSW |
17 |
71,379,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Myom1
|
UTSW |
17 |
71,384,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5171:Myom1
|
UTSW |
17 |
71,406,967 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5540:Myom1
|
UTSW |
17 |
71,416,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5882:Myom1
|
UTSW |
17 |
71,417,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5978:Myom1
|
UTSW |
17 |
71,424,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Myom1
|
UTSW |
17 |
71,417,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Myom1
|
UTSW |
17 |
71,417,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6155:Myom1
|
UTSW |
17 |
71,415,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6261:Myom1
|
UTSW |
17 |
71,433,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Myom1
|
UTSW |
17 |
71,329,887 (GRCm39) |
nonsense |
probably null |
|
|
R6369:Myom1
|
UTSW |
17 |
71,408,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6545:Myom1
|
UTSW |
17 |
71,389,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6738:Myom1
|
UTSW |
17 |
71,407,393 (GRCm39) |
splice site |
probably null |
|
|
R6933:Myom1
|
UTSW |
17 |
71,359,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7168:Myom1
|
UTSW |
17 |
71,396,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7286:Myom1
|
UTSW |
17 |
71,352,544 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7315:Myom1
|
UTSW |
17 |
71,387,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7672:Myom1
|
UTSW |
17 |
71,391,235 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7789:Myom1
|
UTSW |
17 |
71,424,431 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7898:Myom1
|
UTSW |
17 |
71,352,747 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8008:Myom1
|
UTSW |
17 |
71,407,057 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8152:Myom1
|
UTSW |
17 |
71,391,290 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8554:Myom1
|
UTSW |
17 |
71,343,448 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8874:Myom1
|
UTSW |
17 |
71,413,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8981:Myom1
|
UTSW |
17 |
71,391,316 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9012:Myom1
|
UTSW |
17 |
71,407,103 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9090:Myom1
|
UTSW |
17 |
71,374,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9193:Myom1
|
UTSW |
17 |
71,343,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Myom1
|
UTSW |
17 |
71,408,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Myom1
|
UTSW |
17 |
71,374,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9355:Myom1
|
UTSW |
17 |
71,384,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9362:Myom1
|
UTSW |
17 |
71,343,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9440:Myom1
|
UTSW |
17 |
71,433,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9469:Myom1
|
UTSW |
17 |
71,368,122 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9568:Myom1
|
UTSW |
17 |
71,394,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Myom1
|
UTSW |
17 |
71,412,475 (GRCm39) |
nonsense |
probably null |
|
|
R9645:Myom1
|
UTSW |
17 |
71,399,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0019:Myom1
|
UTSW |
17 |
71,407,066 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACTAACAGACTCCAGGG -3'
(R):5'- ATAGCGTTATCAGGTCAAATCGTG -3'
Sequencing Primer
(F):5'- CTCAGAAAGATGCTTTGCTCG -3'
(R):5'- GGTCAAATCGTGTTGAATGACTGAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation