Incidental Mutation 'R0349:Myof'
| ID |
36132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myof
|
| Ensembl Gene |
ENSMUSG00000048612 |
| Gene Name |
myoferlin |
| Synonyms |
Fer1l3, E030042N20Rik, 2310051D19Rik |
| MMRRC Submission |
038556-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0349 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
37899036-38043577 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37910969 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1040
(I1040T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041475]
[ENSMUST00000172095]
[ENSMUST00000224560]
[ENSMUST00000225159]
[ENSMUST00000226068]
|
| AlphaFold |
Q69ZN7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041475
AA Change: I1781T
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: I1781T
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
100 |
7.56e-16 |
SMART |
|
low complexity region
|
142 |
159 |
N/A |
INTRINSIC |
|
C2
|
200 |
299 |
4.03e-11 |
SMART |
|
FerI
|
282 |
353 |
2.76e-37 |
SMART |
|
C2
|
359 |
473 |
2.93e-13 |
SMART |
|
low complexity region
|
532 |
543 |
N/A |
INTRINSIC |
|
FerA
|
663 |
728 |
5.07e-27 |
SMART |
|
FerB
|
755 |
829 |
2.39e-46 |
SMART |
|
DysFN
|
843 |
901 |
6.42e-21 |
SMART |
|
DysFN
|
914 |
970 |
1.16e-18 |
SMART |
|
DysFC
|
979 |
1017 |
1.04e-11 |
SMART |
|
DysFC
|
1037 |
1070 |
1.62e-8 |
SMART |
|
C2
|
1127 |
1234 |
5.03e-12 |
SMART |
|
C2
|
1289 |
1396 |
1.15e1 |
SMART |
|
low complexity region
|
1425 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1515 |
1526 |
N/A |
INTRINSIC |
|
C2
|
1541 |
1640 |
2.66e-11 |
SMART |
|
C2
|
1776 |
1905 |
2.81e-1 |
SMART |
|
Pfam:Ferlin_C
|
1939 |
2043 |
2.4e-29 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172095
AA Change: I1781T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: I1781T
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
100 |
7.56e-16 |
SMART |
|
low complexity region
|
142 |
159 |
N/A |
INTRINSIC |
|
C2
|
200 |
299 |
4.03e-11 |
SMART |
|
FerI
|
282 |
353 |
2.76e-37 |
SMART |
|
C2
|
359 |
473 |
2.93e-13 |
SMART |
|
low complexity region
|
532 |
543 |
N/A |
INTRINSIC |
|
FerA
|
663 |
728 |
5.07e-27 |
SMART |
|
FerB
|
755 |
829 |
2.39e-46 |
SMART |
|
DysFN
|
843 |
901 |
6.42e-21 |
SMART |
|
DysFN
|
914 |
970 |
1.16e-18 |
SMART |
|
DysFC
|
979 |
1017 |
1.04e-11 |
SMART |
|
DysFC
|
1037 |
1070 |
1.62e-8 |
SMART |
|
C2
|
1127 |
1234 |
5.03e-12 |
SMART |
|
C2
|
1289 |
1396 |
1.15e1 |
SMART |
|
low complexity region
|
1515 |
1526 |
N/A |
INTRINSIC |
|
C2
|
1541 |
1640 |
2.66e-11 |
SMART |
|
C2
|
1776 |
1905 |
2.81e-1 |
SMART |
|
transmembrane domain
|
2013 |
2035 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224580
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225159
AA Change: I1040T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226068
AA Change: I1794T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the ferlin family of proteins, which have been implicated in fusion events in muscle tissue. Members of this family have a carboxy-terminal single pass transmembrane domain and multiple C2 domains, which bind negatively charged phospholipids in the presence of calcium ions. This gene is expressed at high levels in myoblasts and upregulated in damaged skeletal muscle. Mice deficient in this protein display defects in myoblast fusion, muscle regeneration, and angiogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700061G19Rik |
T |
A |
17: 56,885,169 (GRCm38) |
Y577* |
probably null |
Het |
| A1cf |
A |
T |
19: 31,932,662 (GRCm38) |
S285C |
possibly damaging |
Het |
| Abcc9 |
A |
T |
6: 142,664,625 (GRCm38) |
N604K |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,771,644 (GRCm38) |
T1192A |
probably damaging |
Het |
| Aldh1l2 |
A |
T |
10: 83,490,614 (GRCm38) |
Y800N |
probably damaging |
Het |
| Ano3 |
A |
T |
2: 110,661,487 (GRCm38) |
V865D |
probably damaging |
Het |
| App |
A |
T |
16: 85,013,680 (GRCm38) |
L545Q |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,803,467 (GRCm38) |
D798G |
probably damaging |
Het |
| B3galnt2 |
T |
C |
13: 13,991,474 (GRCm38) |
V318A |
probably benign |
Het |
| BC005561 |
T |
C |
5: 104,519,976 (GRCm38) |
L788P |
possibly damaging |
Het |
| Clcn3 |
T |
A |
8: 60,941,348 (GRCm38) |
D49V |
possibly damaging |
Het |
| Clcn6 |
T |
A |
4: 148,024,194 (GRCm38) |
K126M |
possibly damaging |
Het |
| Cntln |
T |
A |
4: 84,996,485 (GRCm38) |
S510T |
probably damaging |
Het |
| Csk |
A |
C |
9: 57,628,194 (GRCm38) |
C290W |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,879,282 (GRCm38) |
M1502K |
probably damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,695,922 (GRCm38) |
N81I |
possibly damaging |
Het |
| Dpyd |
T |
A |
3: 118,917,099 (GRCm38) |
C385* |
probably null |
Het |
| Dst |
G |
A |
1: 34,199,553 (GRCm38) |
V1765I |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,032,366 (GRCm38) |
S459G |
probably benign |
Het |
| Fam105a |
T |
A |
15: 27,664,790 (GRCm38) |
I27L |
probably benign |
Het |
| Fam83d |
A |
G |
2: 158,779,848 (GRCm38) |
I160V |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 16,031,180 (GRCm38) |
F1299L |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,365,796 (GRCm38) |
I614V |
unknown |
Het |
| Fsd1l |
T |
A |
4: 53,679,854 (GRCm38) |
V184E |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,797,662 (GRCm38) |
V1328A |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,911,652 (GRCm38) |
N572K |
probably null |
Het |
| Gbp10 |
T |
A |
5: 105,221,076 (GRCm38) |
D299V |
possibly damaging |
Het |
| Gm13078 |
T |
G |
4: 143,727,059 (GRCm38) |
W246G |
probably benign |
Het |
| Gpr83 |
T |
G |
9: 14,868,267 (GRCm38) |
L205R |
probably damaging |
Het |
| Hapln2 |
G |
A |
3: 88,023,629 (GRCm38) |
P152S |
probably damaging |
Het |
| Htatip2 |
T |
C |
7: 49,773,392 (GRCm38) |
Y232H |
probably benign |
Het |
| Itga2b |
C |
T |
11: 102,467,426 (GRCm38) |
V158I |
probably damaging |
Het |
| Kansl3 |
T |
C |
1: 36,351,783 (GRCm38) |
D390G |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,351,237 (GRCm38) |
D16G |
probably benign |
Het |
| Kctd8 |
A |
T |
5: 69,341,010 (GRCm38) |
F98I |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,149,311 (GRCm38) |
E357V |
probably damaging |
Het |
| Kmt5c |
C |
T |
7: 4,746,595 (GRCm38) |
R371C |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,910,304 (GRCm38) |
F241L |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,540,005 (GRCm38) |
D2052G |
probably damaging |
Het |
| Lsr |
T |
A |
7: 30,959,273 (GRCm38) |
I54F |
probably damaging |
Het |
| Matk |
G |
T |
10: 81,258,494 (GRCm38) |
L28F |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,750,318 (GRCm38) |
L4429P |
probably damaging |
Het |
| Med29 |
CCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGC |
7: 28,392,510 (GRCm38) |
|
probably benign |
Het |
| Msln |
G |
T |
17: 25,750,276 (GRCm38) |
Q407K |
possibly damaging |
Het |
| Msr1 |
C |
T |
8: 39,581,827 (GRCm38) |
G428R |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 126,026,434 (GRCm38) |
S794P |
probably benign |
Het |
| Nfkbiz |
C |
T |
16: 55,818,991 (GRCm38) |
|
probably null |
Het |
| Nr2c1 |
C |
T |
10: 94,195,182 (GRCm38) |
S535L |
probably damaging |
Het |
| Olfr1448 |
A |
T |
19: 12,919,935 (GRCm38) |
C125S |
probably damaging |
Het |
| Olfr665 |
A |
T |
7: 104,880,992 (GRCm38) |
D95V |
possibly damaging |
Het |
| Olfr747 |
G |
A |
14: 50,681,254 (GRCm38) |
R127C |
probably benign |
Het |
| Opn3 |
A |
C |
1: 175,692,304 (GRCm38) |
L78R |
probably damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,402,579 (GRCm38) |
N542S |
probably damaging |
Het |
| Pdc |
T |
A |
1: 150,333,427 (GRCm38) |
N220K |
probably benign |
Het |
| Pde6c |
A |
T |
19: 38,162,349 (GRCm38) |
N569Y |
probably damaging |
Het |
| Pgm2 |
A |
T |
4: 99,963,617 (GRCm38) |
K219M |
probably damaging |
Het |
| Pitpnb |
C |
T |
5: 111,347,126 (GRCm38) |
T99M |
possibly damaging |
Het |
| Pou6f2 |
T |
A |
13: 18,152,004 (GRCm38) |
Q71L |
probably damaging |
Het |
| Prkd1 |
C |
A |
12: 50,366,356 (GRCm38) |
L677F |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,500,689 (GRCm38) |
I78V |
probably benign |
Het |
| Rnft2 |
T |
A |
5: 118,201,385 (GRCm38) |
K362M |
possibly damaging |
Het |
| Rprd1a |
T |
A |
18: 24,506,847 (GRCm38) |
E259V |
possibly damaging |
Het |
| Scara3 |
A |
T |
14: 65,931,781 (GRCm38) |
I129N |
probably damaging |
Het |
| Scgb1a1 |
A |
T |
19: 9,085,389 (GRCm38) |
|
probably null |
Het |
| Sec16b |
A |
T |
1: 157,532,176 (GRCm38) |
|
probably null |
Het |
| Slc18a1 |
A |
T |
8: 69,072,101 (GRCm38) |
M167K |
probably damaging |
Het |
| Slc6a15 |
C |
T |
10: 103,418,225 (GRCm38) |
A674V |
probably benign |
Het |
| Slc6a3 |
T |
C |
13: 73,567,557 (GRCm38) |
F437S |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,378,043 (GRCm38) |
|
probably null |
Het |
| Stag1 |
T |
A |
9: 100,776,784 (GRCm38) |
N141K |
probably damaging |
Het |
| Sun2 |
T |
C |
15: 79,730,232 (GRCm38) |
E321G |
probably damaging |
Het |
| Taar2 |
T |
C |
10: 23,941,509 (GRCm38) |
Y316H |
probably benign |
Het |
| Taar2 |
C |
A |
10: 23,941,429 (GRCm38) |
T289K |
possibly damaging |
Het |
| Tbcd |
T |
A |
11: 121,602,983 (GRCm38) |
|
probably null |
Het |
| Tecr |
G |
A |
8: 83,572,275 (GRCm38) |
T106I |
probably damaging |
Het |
| Tmem60 |
T |
G |
5: 20,886,630 (GRCm38) |
V131G |
probably benign |
Het |
| Uimc1 |
A |
G |
13: 55,075,991 (GRCm38) |
V156A |
probably benign |
Het |
| Usp28 |
G |
A |
9: 49,010,281 (GRCm38) |
W266* |
probably null |
Het |
| Vmn2r17 |
T |
A |
5: 109,428,336 (GRCm38) |
S358T |
probably damaging |
Het |
| Wwc2 |
T |
A |
8: 47,868,666 (GRCm38) |
Y471F |
unknown |
Het |
| Ythdc1 |
C |
T |
5: 86,835,720 (GRCm38) |
R675C |
probably damaging |
Het |
| Zfp30 |
T |
C |
7: 29,793,604 (GRCm38) |
S428P |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,008,768 (GRCm38) |
C245S |
probably benign |
Het |
| Zscan30 |
T |
C |
18: 23,971,398 (GRCm38) |
|
noncoding transcript |
Het |
|
| Other mutations in Myof |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Myof
|
APN |
19 |
37,960,934 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL00764:Myof
|
APN |
19 |
37,974,923 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL00801:Myof
|
APN |
19 |
37,986,073 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01084:Myof
|
APN |
19 |
37,936,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01368:Myof
|
APN |
19 |
37,936,457 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01472:Myof
|
APN |
19 |
37,923,076 (GRCm38) |
missense |
probably benign |
|
|
IGL01785:Myof
|
APN |
19 |
37,980,423 (GRCm38) |
nonsense |
probably null |
|
|
IGL02205:Myof
|
APN |
19 |
37,924,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02268:Myof
|
APN |
19 |
37,974,863 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02268:Myof
|
APN |
19 |
37,954,429 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL02339:Myof
|
APN |
19 |
37,972,213 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL02433:Myof
|
APN |
19 |
37,972,193 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02481:Myof
|
APN |
19 |
37,937,913 (GRCm38) |
nonsense |
probably null |
|
|
IGL02536:Myof
|
APN |
19 |
37,949,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02682:Myof
|
APN |
19 |
37,921,481 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02732:Myof
|
APN |
19 |
37,977,716 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL02887:Myof
|
APN |
19 |
37,920,779 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL03114:Myof
|
APN |
19 |
37,903,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03137:Myof
|
APN |
19 |
37,974,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03340:Myof
|
APN |
19 |
37,911,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Myof
|
UTSW |
19 |
37,982,958 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0024:Myof
|
UTSW |
19 |
37,915,740 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0140:Myof
|
UTSW |
19 |
37,951,556 (GRCm38) |
nonsense |
probably null |
|
|
R0309:Myof
|
UTSW |
19 |
37,981,266 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0330:Myof
|
UTSW |
19 |
37,935,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0345:Myof
|
UTSW |
19 |
38,024,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0463:Myof
|
UTSW |
19 |
37,916,504 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0507:Myof
|
UTSW |
19 |
37,901,277 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0512:Myof
|
UTSW |
19 |
37,954,524 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R0608:Myof
|
UTSW |
19 |
37,916,504 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0723:Myof
|
UTSW |
19 |
37,981,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1081:Myof
|
UTSW |
19 |
37,986,088 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1196:Myof
|
UTSW |
19 |
37,910,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1243:Myof
|
UTSW |
19 |
37,936,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1371:Myof
|
UTSW |
19 |
37,903,668 (GRCm38) |
splice site |
probably benign |
|
|
R1381:Myof
|
UTSW |
19 |
37,995,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1419:Myof
|
UTSW |
19 |
37,901,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1527:Myof
|
UTSW |
19 |
37,924,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1672:Myof
|
UTSW |
19 |
37,943,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1864:Myof
|
UTSW |
19 |
37,986,705 (GRCm38) |
missense |
probably benign |
|
|
R1914:Myof
|
UTSW |
19 |
37,977,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1915:Myof
|
UTSW |
19 |
37,977,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1970:Myof
|
UTSW |
19 |
37,945,634 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2062:Myof
|
UTSW |
19 |
37,915,746 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2144:Myof
|
UTSW |
19 |
37,981,221 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2243:Myof
|
UTSW |
19 |
37,901,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2339:Myof
|
UTSW |
19 |
37,937,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2484:Myof
|
UTSW |
19 |
37,903,843 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2880:Myof
|
UTSW |
19 |
37,923,025 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3418:Myof
|
UTSW |
19 |
37,922,978 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3967:Myof
|
UTSW |
19 |
38,022,610 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R3967:Myof
|
UTSW |
19 |
37,901,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3970:Myof
|
UTSW |
19 |
38,022,610 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R3970:Myof
|
UTSW |
19 |
37,901,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4238:Myof
|
UTSW |
19 |
37,923,008 (GRCm38) |
nonsense |
probably null |
|
|
R4405:Myof
|
UTSW |
19 |
37,922,978 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4406:Myof
|
UTSW |
19 |
37,922,978 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4407:Myof
|
UTSW |
19 |
37,922,978 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4408:Myof
|
UTSW |
19 |
37,922,978 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4561:Myof
|
UTSW |
19 |
37,922,990 (GRCm38) |
missense |
probably benign |
|
|
R4606:Myof
|
UTSW |
19 |
37,967,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4778:Myof
|
UTSW |
19 |
37,949,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4801:Myof
|
UTSW |
19 |
37,945,738 (GRCm38) |
missense |
probably benign |
0.24 |
|
R4802:Myof
|
UTSW |
19 |
37,945,738 (GRCm38) |
missense |
probably benign |
0.24 |
|
R4812:Myof
|
UTSW |
19 |
37,916,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4884:Myof
|
UTSW |
19 |
37,942,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4964:Myof
|
UTSW |
19 |
37,935,852 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4966:Myof
|
UTSW |
19 |
37,935,852 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5069:Myof
|
UTSW |
19 |
37,905,325 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5181:Myof
|
UTSW |
19 |
37,932,623 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5376:Myof
|
UTSW |
19 |
37,916,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5384:Myof
|
UTSW |
19 |
37,952,987 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5543:Myof
|
UTSW |
19 |
37,981,330 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5626:Myof
|
UTSW |
19 |
37,922,990 (GRCm38) |
missense |
probably benign |
|
|
R5865:Myof
|
UTSW |
19 |
37,910,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5919:Myof
|
UTSW |
19 |
38,024,370 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5924:Myof
|
UTSW |
19 |
37,982,973 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5997:Myof
|
UTSW |
19 |
37,905,299 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5999:Myof
|
UTSW |
19 |
37,939,856 (GRCm38) |
nonsense |
probably null |
|
|
R6039:Myof
|
UTSW |
19 |
37,977,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6039:Myof
|
UTSW |
19 |
37,977,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6041:Myof
|
UTSW |
19 |
37,924,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6051:Myof
|
UTSW |
19 |
38,024,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6057:Myof
|
UTSW |
19 |
37,926,981 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6089:Myof
|
UTSW |
19 |
37,967,060 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6195:Myof
|
UTSW |
19 |
37,913,357 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6478:Myof
|
UTSW |
19 |
37,903,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6545:Myof
|
UTSW |
19 |
37,942,297 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6655:Myof
|
UTSW |
19 |
37,934,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6715:Myof
|
UTSW |
19 |
37,968,346 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6737:Myof
|
UTSW |
19 |
37,943,514 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6837:Myof
|
UTSW |
19 |
37,922,956 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7096:Myof
|
UTSW |
19 |
37,936,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7308:Myof
|
UTSW |
19 |
37,910,911 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7328:Myof
|
UTSW |
19 |
37,916,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7485:Myof
|
UTSW |
19 |
37,951,491 (GRCm38) |
nonsense |
probably null |
|
|
R7554:Myof
|
UTSW |
19 |
37,954,510 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7759:Myof
|
UTSW |
19 |
37,939,898 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7779:Myof
|
UTSW |
19 |
37,939,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8116:Myof
|
UTSW |
19 |
37,932,719 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8264:Myof
|
UTSW |
19 |
37,921,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8415:Myof
|
UTSW |
19 |
37,995,424 (GRCm38) |
missense |
probably benign |
|
|
R8756:Myof
|
UTSW |
19 |
37,939,952 (GRCm38) |
missense |
probably benign |
|
|
R8777:Myof
|
UTSW |
19 |
37,980,393 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8777-TAIL:Myof
|
UTSW |
19 |
37,980,393 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8835:Myof
|
UTSW |
19 |
37,967,099 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9046:Myof
|
UTSW |
19 |
37,934,664 (GRCm38) |
intron |
probably benign |
|
|
R9396:Myof
|
UTSW |
19 |
37,934,846 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9415:Myof
|
UTSW |
19 |
37,952,964 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9450:Myof
|
UTSW |
19 |
37,960,926 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9451:Myof
|
UTSW |
19 |
37,977,648 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9537:Myof
|
UTSW |
19 |
37,907,606 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9592:Myof
|
UTSW |
19 |
38,043,289 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9616:Myof
|
UTSW |
19 |
37,934,815 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9751:Myof
|
UTSW |
19 |
37,936,370 (GRCm38) |
missense |
probably benign |
|
|
X0024:Myof
|
UTSW |
19 |
37,974,597 (GRCm38) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGGCATTTAGCTTTCCTGGCAC -3'
(R):5'- TCTTCCCCAAGAGTTTAGGACCACC -3'
Sequencing Primer
(F):5'- TAAGCAGCAATGTCTGGTAACC -3'
(R):5'- CCAGGACTCGAAGACGTATACT -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation