Incidental Mutation 'R1753:Myh11'
| ID |
193785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myh11
|
| Ensembl Gene |
ENSMUSG00000018830 |
| Gene Name |
myosin, heavy polypeptide 11, smooth muscle |
| Synonyms |
smMHC, SM1, SM2 |
| MMRRC Submission |
039785-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1753 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
14194535-14291372 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14277870 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 9
(D9E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090287]
[ENSMUST00000230397]
[ENSMUST00000231567]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090287
AA Change: D9E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830
AA Change: D9E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
33 |
73 |
1e-15 |
PFAM |
|
MYSc
|
79 |
784 |
N/A |
SMART |
|
IQ
|
785 |
807 |
1.09e-2 |
SMART |
|
Pfam:Myosin_tail_1
|
848 |
1928 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230397
AA Change: D9E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231567
AA Change: D9E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have impaired smooth muscle contractility. They are incapable of urinating, exhibit dilative cardiomyopathy, are growth retarded, and die within 3 days of birth. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(4) |
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,973,716 (GRCm38) |
F409I |
probably benign |
Het |
| Adamts19 |
A |
C |
18: 59,007,372 (GRCm38) |
I848L |
possibly damaging |
Het |
| Adamts5 |
T |
C |
16: 85,899,352 (GRCm38) |
S306G |
probably damaging |
Het |
| Adamts8 |
T |
G |
9: 30,954,614 (GRCm38) |
I486S |
probably benign |
Het |
| Adgrg5 |
T |
C |
8: 94,942,052 (GRCm38) |
F499L |
possibly damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,577,135 (GRCm38) |
C145* |
probably null |
Het |
| Anp32b |
T |
G |
4: 46,460,241 (GRCm38) |
|
probably null |
Het |
| Arhgap31 |
A |
G |
16: 38,601,612 (GRCm38) |
V1364A |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,094,833 (GRCm38) |
R10G |
possibly damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,302,354 (GRCm38) |
E367G |
possibly damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,866,561 (GRCm38) |
E637K |
probably benign |
Het |
| Cd2 |
A |
T |
3: 101,287,499 (GRCm38) |
M91K |
possibly damaging |
Het |
| Cdc16 |
C |
A |
8: 13,764,688 (GRCm38) |
Y157* |
probably null |
Het |
| Celsr3 |
G |
T |
9: 108,831,857 (GRCm38) |
V1301F |
probably damaging |
Het |
| Cep164 |
C |
T |
9: 45,792,937 (GRCm38) |
G961S |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,513,981 (GRCm38) |
V630A |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,378,815 (GRCm38) |
S1451F |
probably damaging |
Het |
| Cldn23 |
A |
C |
8: 35,825,986 (GRCm38) |
L116R |
possibly damaging |
Het |
| Cngb1 |
A |
T |
8: 95,297,773 (GRCm38) |
|
probably benign |
Het |
| Cpb1 |
G |
T |
3: 20,266,241 (GRCm38) |
N151K |
possibly damaging |
Het |
| Cpn2 |
A |
G |
16: 30,260,100 (GRCm38) |
F261S |
probably damaging |
Het |
| Crlf3 |
A |
C |
11: 80,057,872 (GRCm38) |
V249G |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,157,120 (GRCm38) |
Y1298* |
probably null |
Het |
| Cstf2t |
C |
A |
19: 31,083,685 (GRCm38) |
P207Q |
possibly damaging |
Het |
| Cym |
A |
C |
3: 107,213,425 (GRCm38) |
L288R |
possibly damaging |
Het |
| Cyp2j12 |
C |
T |
4: 96,121,432 (GRCm38) |
|
probably null |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm38) |
Q96* |
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,322,335 (GRCm38) |
F3465S |
probably damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,873,342 (GRCm38) |
M181L |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,333,429 (GRCm38) |
M859K |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,192,940 (GRCm38) |
S13T |
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,576,999 (GRCm38) |
V1448A |
probably benign |
Het |
| Esp24 |
A |
G |
17: 39,040,002 (GRCm38) |
E31G |
possibly damaging |
Het |
| F2rl2 |
T |
A |
13: 95,701,461 (GRCm38) |
M338K |
probably benign |
Het |
| Fgfbp1 |
A |
C |
5: 43,979,923 (GRCm38) |
L9R |
possibly damaging |
Het |
| Gal3st2b |
A |
T |
1: 93,940,616 (GRCm38) |
N188Y |
probably damaging |
Het |
| Gpr179 |
G |
C |
11: 97,346,578 (GRCm38) |
C372W |
probably damaging |
Het |
| Grn |
T |
G |
11: 102,433,267 (GRCm38) |
C61G |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,502,084 (GRCm38) |
|
probably null |
Het |
| Herc1 |
T |
G |
9: 66,469,010 (GRCm38) |
C3371G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,586,468 (GRCm38) |
G5153D |
possibly damaging |
Het |
| Ifi35 |
A |
T |
11: 101,456,635 (GRCm38) |
R31W |
probably damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,593,860 (GRCm38) |
H399L |
probably benign |
Het |
| Irx3 |
G |
A |
8: 91,800,734 (GRCm38) |
P114L |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 22,935,797 (GRCm38) |
D1119E |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,843,482 (GRCm38) |
|
probably benign |
Het |
| Kng1 |
A |
T |
16: 23,079,119 (GRCm38) |
H423L |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,496,489 (GRCm38) |
Q1746L |
possibly damaging |
Het |
| Lrrc29 |
A |
T |
8: 105,313,192 (GRCm38) |
V517E |
probably damaging |
Het |
| Lrrc63 |
A |
T |
14: 75,086,344 (GRCm38) |
|
probably null |
Het |
| Mad2l1 |
T |
A |
6: 66,539,813 (GRCm38) |
V163E |
possibly damaging |
Het |
| Map3k19 |
A |
G |
1: 127,822,680 (GRCm38) |
M978T |
probably benign |
Het |
| Mon1a |
A |
C |
9: 107,901,363 (GRCm38) |
N262T |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,795,881 (GRCm38) |
N85D |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,144,810 (GRCm38) |
D244G |
probably null |
Het |
| Mstn |
A |
G |
1: 53,066,558 (GRCm38) |
Y353C |
probably damaging |
Het |
| Mx1 |
T |
A |
16: 97,454,158 (GRCm38) |
N232Y |
probably damaging |
Het |
| Mycs |
T |
C |
X: 5,468,103 (GRCm38) |
R308G |
probably benign |
Het |
| Nfe2l3 |
A |
T |
6: 51,433,412 (GRCm38) |
Q169L |
probably null |
Het |
| Nr5a1 |
G |
T |
2: 38,708,419 (GRCm38) |
T122N |
possibly damaging |
Het |
| Nras |
A |
G |
3: 103,058,979 (GRCm38) |
T20A |
probably damaging |
Het |
| Obp2b |
T |
A |
2: 25,738,640 (GRCm38) |
|
probably null |
Het |
| Olfr1109 |
T |
C |
2: 87,093,227 (GRCm38) |
T57A |
probably damaging |
Het |
| Olfr1143 |
T |
A |
2: 87,802,762 (GRCm38) |
F124L |
probably benign |
Het |
| Olfr1410 |
G |
A |
1: 92,608,400 (GRCm38) |
V188M |
probably benign |
Het |
| Olfr365 |
A |
G |
2: 37,201,427 (GRCm38) |
Y62C |
probably damaging |
Het |
| Olfr577 |
T |
C |
7: 102,973,056 (GRCm38) |
N312S |
probably benign |
Het |
| Pcdh17 |
A |
T |
14: 84,477,654 (GRCm38) |
T920S |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 93,887,225 (GRCm38) |
D503G |
probably benign |
Het |
| Pcdhb12 |
C |
T |
18: 37,436,671 (GRCm38) |
T290I |
probably damaging |
Het |
| Pde6b |
C |
A |
5: 108,388,691 (GRCm38) |
C84* |
probably null |
Het |
| Pex1 |
A |
T |
5: 3,630,044 (GRCm38) |
N914I |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,589,317 (GRCm38) |
V528A |
possibly damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,533,905 (GRCm38) |
D1187A |
possibly damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,342,631 (GRCm38) |
K489E |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,653,252 (GRCm38) |
T650A |
possibly damaging |
Het |
| Radil |
T |
C |
5: 142,495,336 (GRCm38) |
Y572C |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 79,088,791 (GRCm38) |
I555T |
possibly damaging |
Het |
| Rgs5 |
G |
A |
1: 169,682,817 (GRCm38) |
|
probably null |
Het |
| Rnaset2b |
G |
A |
17: 6,981,107 (GRCm38) |
|
probably null |
Het |
| S1pr1 |
A |
G |
3: 115,711,938 (GRCm38) |
S336P |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 125,083,195 (GRCm38) |
E252G |
possibly damaging |
Het |
| Slc34a2 |
A |
T |
5: 53,061,391 (GRCm38) |
I184F |
probably benign |
Het |
| Slc35a3 |
A |
G |
3: 116,677,948 (GRCm38) |
V224A |
possibly damaging |
Het |
| Slc39a9 |
A |
G |
12: 80,677,202 (GRCm38) |
H211R |
probably damaging |
Het |
| Slu7 |
A |
G |
11: 43,439,268 (GRCm38) |
N174S |
probably benign |
Het |
| Smarcd3 |
A |
T |
5: 24,595,822 (GRCm38) |
Y131* |
probably null |
Het |
| Syne1 |
A |
G |
10: 5,367,621 (GRCm38) |
M491T |
probably benign |
Het |
| Tars |
G |
A |
15: 11,394,243 (GRCm38) |
Q103* |
probably null |
Het |
| Tmem132d |
C |
A |
5: 127,789,855 (GRCm38) |
E660D |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,745,043 (GRCm38) |
T16842A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,752,261 (GRCm38) |
M22763L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,812,972 (GRCm38) |
E13201G |
probably damaging |
Het |
| Ubp1 |
A |
T |
9: 113,955,969 (GRCm38) |
I117L |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,377,559 (GRCm38) |
H954Q |
probably benign |
Het |
| Vmn1r174 |
G |
A |
7: 23,754,197 (GRCm38) |
R96H |
probably benign |
Het |
| Vmn2r63 |
G |
A |
7: 42,928,245 (GRCm38) |
Q290* |
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,865,820 (GRCm38) |
I341T |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,305,744 (GRCm38) |
T46A |
probably damaging |
Het |
| Wdr48 |
G |
T |
9: 119,924,247 (GRCm38) |
E625* |
probably null |
Het |
| Wdr6 |
C |
T |
9: 108,575,164 (GRCm38) |
V507I |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 120,138,105 (GRCm38) |
W287R |
probably benign |
Het |
|
| Other mutations in Myh11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Myh11
|
APN |
16 |
14,277,722 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01398:Myh11
|
APN |
16 |
14,202,100 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01646:Myh11
|
APN |
16 |
14,221,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02470:Myh11
|
APN |
16 |
14,218,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02680:Myh11
|
APN |
16 |
14,209,520 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02687:Myh11
|
APN |
16 |
14,212,618 (GRCm38) |
nonsense |
probably null |
|
|
IGL02987:Myh11
|
APN |
16 |
14,232,532 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03008:Myh11
|
APN |
16 |
14,204,753 (GRCm38) |
missense |
probably benign |
0.00 |
|
G5030:Myh11
|
UTSW |
16 |
14,250,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4618001:Myh11
|
UTSW |
16 |
14,201,066 (GRCm38) |
missense |
|
|
|
R0008:Myh11
|
UTSW |
16 |
14,224,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0085:Myh11
|
UTSW |
16 |
14,224,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0086:Myh11
|
UTSW |
16 |
14,224,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0087:Myh11
|
UTSW |
16 |
14,224,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0096:Myh11
|
UTSW |
16 |
14,204,367 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0096:Myh11
|
UTSW |
16 |
14,204,367 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0207:Myh11
|
UTSW |
16 |
14,211,260 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0326:Myh11
|
UTSW |
16 |
14,218,880 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0546:Myh11
|
UTSW |
16 |
14,205,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0658:Myh11
|
UTSW |
16 |
14,224,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0715:Myh11
|
UTSW |
16 |
14,226,616 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0839:Myh11
|
UTSW |
16 |
14,203,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1014:Myh11
|
UTSW |
16 |
14,236,410 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1104:Myh11
|
UTSW |
16 |
14,202,127 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1426:Myh11
|
UTSW |
16 |
14,205,931 (GRCm38) |
nonsense |
probably null |
|
|
R1560:Myh11
|
UTSW |
16 |
14,226,620 (GRCm38) |
nonsense |
probably null |
|
|
R1714:Myh11
|
UTSW |
16 |
14,236,368 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1742:Myh11
|
UTSW |
16 |
14,220,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1750:Myh11
|
UTSW |
16 |
14,215,790 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1750:Myh11
|
UTSW |
16 |
14,200,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1760:Myh11
|
UTSW |
16 |
14,233,695 (GRCm38) |
splice site |
probably benign |
|
|
R1829:Myh11
|
UTSW |
16 |
14,223,880 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1876:Myh11
|
UTSW |
16 |
14,269,103 (GRCm38) |
splice site |
probably benign |
|
|
R2027:Myh11
|
UTSW |
16 |
14,232,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2122:Myh11
|
UTSW |
16 |
14,218,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2247:Myh11
|
UTSW |
16 |
14,277,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2495:Myh11
|
UTSW |
16 |
14,205,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2863:Myh11
|
UTSW |
16 |
14,239,426 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3684:Myh11
|
UTSW |
16 |
14,203,234 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3693:Myh11
|
UTSW |
16 |
14,217,949 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4080:Myh11
|
UTSW |
16 |
14,224,059 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4367:Myh11
|
UTSW |
16 |
14,218,883 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4664:Myh11
|
UTSW |
16 |
14,226,584 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4673:Myh11
|
UTSW |
16 |
14,269,241 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4694:Myh11
|
UTSW |
16 |
14,200,702 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4805:Myh11
|
UTSW |
16 |
14,234,465 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R4806:Myh11
|
UTSW |
16 |
14,201,083 (GRCm38) |
splice site |
probably null |
|
|
R4905:Myh11
|
UTSW |
16 |
14,250,523 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4939:Myh11
|
UTSW |
16 |
14,239,507 (GRCm38) |
missense |
probably benign |
|
|
R4964:Myh11
|
UTSW |
16 |
14,205,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4966:Myh11
|
UTSW |
16 |
14,205,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5029:Myh11
|
UTSW |
16 |
14,205,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5045:Myh11
|
UTSW |
16 |
14,239,527 (GRCm38) |
nonsense |
probably null |
|
|
R5097:Myh11
|
UTSW |
16 |
14,205,906 (GRCm38) |
splice site |
probably null |
|
|
R5288:Myh11
|
UTSW |
16 |
14,208,008 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5385:Myh11
|
UTSW |
16 |
14,208,008 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5621:Myh11
|
UTSW |
16 |
14,244,855 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5856:Myh11
|
UTSW |
16 |
14,205,976 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5869:Myh11
|
UTSW |
16 |
14,230,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6019:Myh11
|
UTSW |
16 |
14,206,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6024:Myh11
|
UTSW |
16 |
14,277,703 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6139:Myh11
|
UTSW |
16 |
14,215,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6209:Myh11
|
UTSW |
16 |
14,208,291 (GRCm38) |
nonsense |
probably null |
|
|
R6373:Myh11
|
UTSW |
16 |
14,205,130 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6671:Myh11
|
UTSW |
16 |
14,226,616 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6688:Myh11
|
UTSW |
16 |
14,205,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6709:Myh11
|
UTSW |
16 |
14,223,494 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7069:Myh11
|
UTSW |
16 |
14,218,939 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7176:Myh11
|
UTSW |
16 |
14,215,826 (GRCm38) |
missense |
|
|
|
R7644:Myh11
|
UTSW |
16 |
14,221,824 (GRCm38) |
missense |
|
|
|
R7838:Myh11
|
UTSW |
16 |
14,209,617 (GRCm38) |
missense |
|
|
|
R7905:Myh11
|
UTSW |
16 |
14,207,681 (GRCm38) |
nonsense |
probably null |
|
|
R8261:Myh11
|
UTSW |
16 |
14,224,003 (GRCm38) |
missense |
|
|
|
R8272:Myh11
|
UTSW |
16 |
14,218,854 (GRCm38) |
missense |
|
|
|
R8317:Myh11
|
UTSW |
16 |
14,208,077 (GRCm38) |
missense |
|
|
|
R8359:Myh11
|
UTSW |
16 |
14,208,231 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8486:Myh11
|
UTSW |
16 |
14,204,668 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8527:Myh11
|
UTSW |
16 |
14,230,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8861:Myh11
|
UTSW |
16 |
14,246,782 (GRCm38) |
missense |
|
|
|
R8886:Myh11
|
UTSW |
16 |
14,234,414 (GRCm38) |
missense |
|
|
|
R8946:Myh11
|
UTSW |
16 |
14,230,716 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9151:Myh11
|
UTSW |
16 |
14,232,575 (GRCm38) |
missense |
|
|
|
R9253:Myh11
|
UTSW |
16 |
14,256,495 (GRCm38) |
missense |
|
|
|
R9257:Myh11
|
UTSW |
16 |
14,269,256 (GRCm38) |
missense |
|
|
|
R9273:Myh11
|
UTSW |
16 |
14,236,419 (GRCm38) |
missense |
|
|
|
R9320:Myh11
|
UTSW |
16 |
14,211,288 (GRCm38) |
missense |
|
|
|
R9364:Myh11
|
UTSW |
16 |
14,200,716 (GRCm38) |
missense |
|
|
|
R9365:Myh11
|
UTSW |
16 |
14,234,433 (GRCm38) |
missense |
|
|
|
R9496:Myh11
|
UTSW |
16 |
14,230,752 (GRCm38) |
nonsense |
probably null |
|
|
R9499:Myh11
|
UTSW |
16 |
14,246,809 (GRCm38) |
missense |
|
|
|
R9551:Myh11
|
UTSW |
16 |
14,246,809 (GRCm38) |
missense |
|
|
|
R9554:Myh11
|
UTSW |
16 |
14,200,716 (GRCm38) |
missense |
|
|
|
R9631:Myh11
|
UTSW |
16 |
14,207,577 (GRCm38) |
missense |
|
|
|
R9661:Myh11
|
UTSW |
16 |
14,223,993 (GRCm38) |
missense |
|
|
|
R9679:Myh11
|
UTSW |
16 |
14,277,572 (GRCm38) |
missense |
|
|
|
R9780:Myh11
|
UTSW |
16 |
14,246,749 (GRCm38) |
missense |
|
|
|
R9790:Myh11
|
UTSW |
16 |
14,208,128 (GRCm38) |
missense |
|
|
|
R9791:Myh11
|
UTSW |
16 |
14,208,128 (GRCm38) |
missense |
|
|
|
X0018:Myh11
|
UTSW |
16 |
14,277,633 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0025:Myh11
|
UTSW |
16 |
14,209,689 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
X0027:Myh11
|
UTSW |
16 |
14,234,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Myh11
|
UTSW |
16 |
14,269,262 (GRCm38) |
frame shift |
probably null |
|
|
Z1176:Myh11
|
UTSW |
16 |
14,277,775 (GRCm38) |
missense |
|
|
|
Z1176:Myh11
|
UTSW |
16 |
14,239,396 (GRCm38) |
missense |
probably null |
|
|
Z1177:Myh11
|
UTSW |
16 |
14,209,595 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATGTCCTCCACCTTAGAGAAC -3'
(R):5'- CTGAAGGATCTCAAGGTCATTGCCC -3'
Sequencing Primer
(F):5'- GGATGTCATCTTTGCCAACTG -3'
(R):5'- CATTGCCCTCTTTGATAATATAAGCC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation