Incidental Mutation 'R1498:Myo6'
| ID |
169048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo6
|
| Ensembl Gene |
ENSMUSG00000033577 |
| Gene Name |
myosin VI |
| Synonyms |
Myo6, Tlc, rsv |
| MMRRC Submission |
039549-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1498 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
80072313-80219011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80214961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1231
(D1231E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035889]
[ENSMUST00000076140]
[ENSMUST00000113266]
[ENSMUST00000113268]
[ENSMUST00000127779]
[ENSMUST00000184480]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035889
AA Change: D1199E
|
| SMART Domains |
Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: D1199E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
51 |
772 |
N/A |
SMART |
|
IQ
|
812 |
834 |
8.58e-1 |
SMART |
|
low complexity region
|
909 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1002 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
1003 |
1113 |
3e-29 |
BLAST |
|
PDB:3H8D|D
|
1134 |
1262 |
1e-74 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000076140
AA Change: D1203E
|
| SMART Domains |
Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: D1203E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
51 |
772 |
N/A |
SMART |
|
IQ
|
812 |
834 |
8.58e-1 |
SMART |
|
low complexity region
|
909 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1002 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
1003 |
1126 |
2e-27 |
BLAST |
|
PDB:3H8D|D
|
1138 |
1266 |
8e-75 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000113266
AA Change: D1190E
|
| SMART Domains |
Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: D1190E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
51 |
772 |
N/A |
SMART |
|
IQ
|
812 |
834 |
8.58e-1 |
SMART |
|
low complexity region
|
909 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1002 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
1003 |
1113 |
3e-29 |
BLAST |
|
PDB:3H8D|D
|
1125 |
1253 |
9e-75 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113268
AA Change: D1221E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: D1221E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
51 |
772 |
N/A |
SMART |
|
IQ
|
812 |
834 |
8.58e-1 |
SMART |
|
low complexity region
|
909 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1002 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
1003 |
1135 |
2e-26 |
BLAST |
|
Pfam:Myosin-VI_CBD
|
1167 |
1257 |
1.4e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127779
AA Change: D1222E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: D1222E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
51 |
772 |
N/A |
SMART |
|
IQ
|
812 |
834 |
8.58e-1 |
SMART |
|
low complexity region
|
909 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1002 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
1003 |
1136 |
1e-26 |
BLAST |
|
PDB:3H8D|D
|
1157 |
1285 |
9e-75 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143804
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184480
AA Change: D1231E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: D1231E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
51 |
772 |
N/A |
SMART |
|
IQ
|
812 |
834 |
8.58e-1 |
SMART |
|
low complexity region
|
909 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1002 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
1003 |
1145 |
1e-25 |
BLAST |
|
PDB:3H8D|D
|
1166 |
1294 |
8e-75 |
PDB |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (83/86) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous mutant mice exhibit deafness and related behavioral characteristics such as circling, head tossing and hyperactivity. Progressive degeneration of the cochlear hair cells and the organ of Corti is observed with one mutation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(13) : Targeted, other(2) Gene trapped(6) Spontaneous(3) Chemically induced(2) |
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
G |
11: 100,374,627 (GRCm39) |
S799P |
probably benign |
Het |
| Acvr1b |
T |
C |
15: 101,091,891 (GRCm39) |
F57S |
probably benign |
Het |
| Adamts5 |
T |
A |
16: 85,696,990 (GRCm39) |
T56S |
possibly damaging |
Het |
| Adrb2 |
T |
C |
18: 62,312,004 (GRCm39) |
T274A |
probably damaging |
Het |
| Agr3 |
A |
T |
12: 35,984,379 (GRCm39) |
|
probably null |
Het |
| Ankrd6 |
A |
G |
4: 32,810,289 (GRCm39) |
M405T |
probably benign |
Het |
| Aoc1l2 |
A |
G |
6: 48,908,305 (GRCm39) |
H435R |
probably benign |
Het |
| Aqp5 |
T |
C |
15: 99,491,128 (GRCm39) |
I60T |
probably damaging |
Het |
| Arf5 |
G |
T |
6: 28,426,153 (GRCm39) |
R180L |
probably benign |
Het |
| Asap3 |
A |
G |
4: 135,966,505 (GRCm39) |
N528D |
probably benign |
Het |
| Atmin |
G |
A |
8: 117,681,540 (GRCm39) |
E180K |
probably benign |
Het |
| Bcl11a |
A |
T |
11: 24,114,005 (GRCm39) |
E449D |
probably damaging |
Het |
| Cep128 |
A |
T |
12: 91,333,191 (GRCm39) |
F25I |
probably benign |
Het |
| Cfp |
GCAC |
GC |
X: 20,795,905 (GRCm39) |
|
probably null |
Het |
| Chpt1 |
T |
A |
10: 88,312,966 (GRCm39) |
Y282F |
possibly damaging |
Het |
| Cul7 |
A |
G |
17: 46,966,636 (GRCm39) |
D355G |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,131,227 (GRCm39) |
Y385H |
probably damaging |
Het |
| Dnah2 |
A |
C |
11: 69,411,493 (GRCm39) |
|
probably null |
Het |
| Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
| Erc2 |
T |
A |
14: 28,024,855 (GRCm39) |
M578K |
probably benign |
Het |
| Evc |
T |
A |
5: 37,481,044 (GRCm39) |
H267L |
possibly damaging |
Het |
| Exosc10 |
A |
C |
4: 148,666,243 (GRCm39) |
Q837P |
possibly damaging |
Het |
| Fasn |
G |
A |
11: 120,706,245 (GRCm39) |
T1033I |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,478,521 (GRCm39) |
Y2522* |
probably null |
Het |
| Fbxw8 |
G |
A |
5: 118,203,850 (GRCm39) |
|
probably benign |
Het |
| Fyn |
A |
G |
10: 39,408,120 (GRCm39) |
D321G |
possibly damaging |
Het |
| Grm6 |
G |
A |
11: 50,748,083 (GRCm39) |
V398M |
probably damaging |
Het |
| Gtpbp1 |
T |
A |
15: 79,603,222 (GRCm39) |
|
probably null |
Het |
| Hnf1a |
A |
G |
5: 115,108,596 (GRCm39) |
V103A |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,662,122 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
C |
T |
13: 95,783,313 (GRCm39) |
V1288I |
probably benign |
Het |
| Irx5 |
A |
G |
8: 93,086,514 (GRCm39) |
D199G |
probably damaging |
Het |
| Klrh1 |
A |
G |
6: 129,748,703 (GRCm39) |
S105P |
probably damaging |
Het |
| Krt9 |
G |
T |
11: 100,079,195 (GRCm39) |
C732* |
probably null |
Het |
| Lifr |
T |
C |
15: 7,220,099 (GRCm39) |
S910P |
probably damaging |
Het |
| Lrig1 |
G |
A |
6: 94,604,968 (GRCm39) |
A209V |
possibly damaging |
Het |
| Lrrk1 |
T |
A |
7: 65,952,419 (GRCm39) |
R506* |
probably null |
Het |
| Lyst |
T |
A |
13: 13,824,960 (GRCm39) |
I1525K |
possibly damaging |
Het |
| Mad2l1 |
C |
T |
6: 66,516,826 (GRCm39) |
Q173* |
probably null |
Het |
| Mcoln1 |
T |
A |
8: 3,562,861 (GRCm39) |
I524N |
probably damaging |
Het |
| Mmp3 |
A |
T |
9: 7,446,967 (GRCm39) |
D49V |
possibly damaging |
Het |
| Morc3 |
A |
T |
16: 93,650,743 (GRCm39) |
N321I |
probably damaging |
Het |
| Mrpl48 |
T |
C |
7: 100,195,695 (GRCm39) |
|
probably benign |
Het |
| Nlrc4 |
A |
G |
17: 74,753,408 (GRCm39) |
I325T |
probably benign |
Het |
| Or1j19 |
A |
T |
2: 36,677,358 (GRCm39) |
I274F |
probably damaging |
Het |
| Or2ag17 |
T |
C |
7: 106,389,623 (GRCm39) |
Y195C |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,938 (GRCm39) |
M36K |
probably benign |
Het |
| Or8c16 |
C |
G |
9: 38,130,676 (GRCm39) |
P183A |
probably damaging |
Het |
| Or8k32 |
A |
G |
2: 86,368,902 (GRCm39) |
V117A |
probably benign |
Het |
| Parvg |
T |
A |
15: 84,218,832 (GRCm39) |
S230T |
possibly damaging |
Het |
| Pcca |
T |
C |
14: 122,854,230 (GRCm39) |
I118T |
probably damaging |
Het |
| Pde6a |
A |
G |
18: 61,365,932 (GRCm39) |
N219S |
possibly damaging |
Het |
| Phldb1 |
G |
T |
9: 44,612,915 (GRCm39) |
P935Q |
possibly damaging |
Het |
| Plppr5 |
T |
C |
3: 117,456,261 (GRCm39) |
S261P |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,922,629 (GRCm39) |
N260S |
probably benign |
Het |
| Ppp1r3e |
A |
T |
14: 55,113,882 (GRCm39) |
H263Q |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,559,567 (GRCm39) |
|
probably null |
Het |
| Ppt2 |
A |
T |
17: 34,842,075 (GRCm39) |
D185E |
probably benign |
Het |
| Prr27 |
A |
T |
5: 87,998,600 (GRCm39) |
|
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,870,479 (GRCm39) |
V327E |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rtp1 |
A |
T |
16: 23,249,970 (GRCm39) |
M112L |
probably benign |
Het |
| Slc22a5 |
A |
T |
11: 53,760,140 (GRCm39) |
L392Q |
probably damaging |
Het |
| Slc6a7 |
A |
G |
18: 61,129,764 (GRCm39) |
I614T |
probably benign |
Het |
| Slu7 |
C |
A |
11: 43,329,044 (GRCm39) |
P89T |
possibly damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,318,061 (GRCm39) |
V618A |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,952,369 (GRCm39) |
R729Q |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,794,274 (GRCm39) |
F1493L |
possibly damaging |
Het |
| Sulf1 |
C |
T |
1: 12,918,574 (GRCm39) |
T66I |
probably damaging |
Het |
| Tgtp2 |
A |
G |
11: 48,950,165 (GRCm39) |
Y136H |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,536,242 (GRCm39) |
F92S |
probably damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,730,934 (GRCm39) |
V820E |
probably benign |
Het |
| Tpcn2 |
A |
G |
7: 144,822,648 (GRCm39) |
Y266H |
probably damaging |
Het |
| Trat1 |
A |
G |
16: 48,555,304 (GRCm39) |
S143P |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,298 (GRCm39) |
R235W |
probably damaging |
Het |
| Vmn1r71 |
A |
T |
7: 10,482,575 (GRCm39) |
C38S |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,890 (GRCm39) |
T315S |
probably damaging |
Het |
| Wdr36 |
A |
G |
18: 32,986,021 (GRCm39) |
D575G |
possibly damaging |
Het |
| Zfp292 |
G |
T |
4: 34,805,397 (GRCm39) |
A2549E |
possibly damaging |
Het |
| Zfp354a |
A |
T |
11: 50,961,073 (GRCm39) |
H426L |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp648 |
T |
A |
1: 154,081,119 (GRCm39) |
I426N |
probably damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,736 (GRCm39) |
N114S |
probably benign |
Het |
|
| Other mutations in Myo6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Myo6
|
APN |
9 |
80,199,754 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00584:Myo6
|
APN |
9 |
80,149,555 (GRCm39) |
splice site |
probably benign |
|
|
IGL00596:Myo6
|
APN |
9 |
80,189,025 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00778:Myo6
|
APN |
9 |
80,190,868 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01667:Myo6
|
APN |
9 |
80,197,175 (GRCm39) |
missense |
unknown |
|
|
IGL01939:Myo6
|
APN |
9 |
80,168,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Myo6
|
APN |
9 |
80,171,554 (GRCm39) |
splice site |
probably benign |
|
|
IGL02271:Myo6
|
APN |
9 |
80,168,113 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02512:Myo6
|
APN |
9 |
80,199,801 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02716:Myo6
|
APN |
9 |
80,176,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02888:Myo6
|
APN |
9 |
80,177,013 (GRCm39) |
splice site |
probably benign |
|
|
IGL02890:Myo6
|
APN |
9 |
80,173,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Myo6
|
APN |
9 |
80,171,516 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02990:Myo6
|
APN |
9 |
80,183,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03060:Myo6
|
APN |
9 |
80,168,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03145:Myo6
|
APN |
9 |
80,207,947 (GRCm39) |
nonsense |
probably null |
|
|
IGL03306:Myo6
|
APN |
9 |
80,153,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
agnostic
|
UTSW |
9 |
80,190,816 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
knownothing
|
UTSW |
9 |
80,210,583 (GRCm39) |
critical splice donor site |
probably null |
|
|
mayday_circler
|
UTSW |
9 |
80,153,733 (GRCm39) |
nonsense |
probably null |
|
|
torticollis
|
UTSW |
9 |
80,195,499 (GRCm39) |
critical splice donor site |
probably null |
|
|
toss
|
UTSW |
9 |
80,207,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
truths
|
UTSW |
9 |
80,177,321 (GRCm39) |
nonsense |
probably null |
|
|
unbiased
|
UTSW |
9 |
80,181,257 (GRCm39) |
splice site |
probably benign |
|
|
IGL03134:Myo6
|
UTSW |
9 |
80,199,749 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0023:Myo6
|
UTSW |
9 |
80,190,816 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0023:Myo6
|
UTSW |
9 |
80,190,816 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0124:Myo6
|
UTSW |
9 |
80,215,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Myo6
|
UTSW |
9 |
80,181,257 (GRCm39) |
splice site |
probably benign |
|
|
R0207:Myo6
|
UTSW |
9 |
80,195,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Myo6
|
UTSW |
9 |
80,190,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0389:Myo6
|
UTSW |
9 |
80,199,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0432:Myo6
|
UTSW |
9 |
80,181,256 (GRCm39) |
splice site |
probably benign |
|
|
R0526:Myo6
|
UTSW |
9 |
80,190,823 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0791:Myo6
|
UTSW |
9 |
80,169,656 (GRCm39) |
splice site |
probably benign |
|
|
R0885:Myo6
|
UTSW |
9 |
80,149,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1082:Myo6
|
UTSW |
9 |
80,195,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1113:Myo6
|
UTSW |
9 |
80,152,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Myo6
|
UTSW |
9 |
80,193,664 (GRCm39) |
nonsense |
probably null |
|
|
R1308:Myo6
|
UTSW |
9 |
80,152,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1609:Myo6
|
UTSW |
9 |
80,195,499 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1615:Myo6
|
UTSW |
9 |
80,215,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Myo6
|
UTSW |
9 |
80,193,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Myo6
|
UTSW |
9 |
80,177,331 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1789:Myo6
|
UTSW |
9 |
80,207,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Myo6
|
UTSW |
9 |
80,168,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Myo6
|
UTSW |
9 |
80,136,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2011:Myo6
|
UTSW |
9 |
80,215,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2092:Myo6
|
UTSW |
9 |
80,152,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2098:Myo6
|
UTSW |
9 |
80,188,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Myo6
|
UTSW |
9 |
80,165,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2286:Myo6
|
UTSW |
9 |
80,173,494 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2429:Myo6
|
UTSW |
9 |
80,210,583 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2696:Myo6
|
UTSW |
9 |
80,168,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2897:Myo6
|
UTSW |
9 |
80,176,893 (GRCm39) |
splice site |
probably null |
|
|
R2898:Myo6
|
UTSW |
9 |
80,176,893 (GRCm39) |
splice site |
probably null |
|
|
R3881:Myo6
|
UTSW |
9 |
80,171,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Myo6
|
UTSW |
9 |
80,195,320 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4718:Myo6
|
UTSW |
9 |
80,153,799 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4893:Myo6
|
UTSW |
9 |
80,136,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Myo6
|
UTSW |
9 |
80,214,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Myo6
|
UTSW |
9 |
80,190,792 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5073:Myo6
|
UTSW |
9 |
80,195,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5101:Myo6
|
UTSW |
9 |
80,177,321 (GRCm39) |
nonsense |
probably null |
|
|
R5137:Myo6
|
UTSW |
9 |
80,149,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5200:Myo6
|
UTSW |
9 |
80,183,656 (GRCm39) |
nonsense |
probably null |
|
|
R5510:Myo6
|
UTSW |
9 |
80,152,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Myo6
|
UTSW |
9 |
80,125,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5693:Myo6
|
UTSW |
9 |
80,173,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5701:Myo6
|
UTSW |
9 |
80,165,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6693:Myo6
|
UTSW |
9 |
80,153,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Myo6
|
UTSW |
9 |
80,152,418 (GRCm39) |
missense |
unknown |
|
|
R7399:Myo6
|
UTSW |
9 |
80,169,573 (GRCm39) |
missense |
unknown |
|
|
R7492:Myo6
|
UTSW |
9 |
80,195,328 (GRCm39) |
nonsense |
probably null |
|
|
R7651:Myo6
|
UTSW |
9 |
80,171,548 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7698:Myo6
|
UTSW |
9 |
80,124,938 (GRCm39) |
missense |
unknown |
|
|
R7743:Myo6
|
UTSW |
9 |
80,183,611 (GRCm39) |
missense |
unknown |
|
|
R7888:Myo6
|
UTSW |
9 |
80,203,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8161:Myo6
|
UTSW |
9 |
80,124,991 (GRCm39) |
missense |
unknown |
|
|
R8245:Myo6
|
UTSW |
9 |
80,162,229 (GRCm39) |
missense |
unknown |
|
|
R8375:Myo6
|
UTSW |
9 |
80,162,206 (GRCm39) |
missense |
unknown |
|
|
R8387:Myo6
|
UTSW |
9 |
80,183,632 (GRCm39) |
missense |
unknown |
|
|
R8467:Myo6
|
UTSW |
9 |
80,136,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Myo6
|
UTSW |
9 |
80,173,531 (GRCm39) |
missense |
unknown |
|
|
R8770:Myo6
|
UTSW |
9 |
80,171,481 (GRCm39) |
missense |
unknown |
|
|
R8807:Myo6
|
UTSW |
9 |
80,207,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9006:Myo6
|
UTSW |
9 |
80,136,140 (GRCm39) |
missense |
unknown |
|
|
R9018:Myo6
|
UTSW |
9 |
80,159,086 (GRCm39) |
missense |
unknown |
|
|
R9038:Myo6
|
UTSW |
9 |
80,162,285 (GRCm39) |
missense |
unknown |
|
|
R9124:Myo6
|
UTSW |
9 |
80,195,353 (GRCm39) |
missense |
unknown |
|
|
R9190:Myo6
|
UTSW |
9 |
80,195,384 (GRCm39) |
missense |
unknown |
|
|
R9194:Myo6
|
UTSW |
9 |
80,153,836 (GRCm39) |
missense |
unknown |
|
|
R9281:Myo6
|
UTSW |
9 |
80,162,164 (GRCm39) |
nonsense |
probably null |
|
|
Z1191:Myo6
|
UTSW |
9 |
80,149,509 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTGTGTATAATTCACAGGCGGG -3'
(R):5'- TGCATAAGGCATTTCTACCAGGAGC -3'
Sequencing Primer
(F):5'- ATCCCTGGATGAAACAGTCTG -3'
(R):5'- GAACCCTGCGGTCTACTTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation