Incidental Mutation 'R5101:Myo6'
| ID |
392365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo6
|
| Ensembl Gene |
ENSMUSG00000033577 |
| Gene Name |
myosin VI |
| Synonyms |
Myo6, Tlc, rsv |
| MMRRC Submission |
042852-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5101 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
80072313-80219011 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 80177321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 606
(E606*)
|
| 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 |
probably null
Transcript: ENSMUST00000035889
AA Change: E606*
|
| SMART Domains |
Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: E606*
| 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 |
probably null
Transcript: ENSMUST00000076140
AA Change: E606*
|
| SMART Domains |
Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: E606*
| 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 |
probably null
Transcript: ENSMUST00000113266
AA Change: E606*
|
| SMART Domains |
Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: E606*
| 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 null
Transcript: ENSMUST00000113268
AA Change: E606*
|
| SMART Domains |
Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: E606*
| 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 null
Transcript: ENSMUST00000127779
AA Change: E606*
|
| SMART Domains |
Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: E606*
| 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: ENSMUST00000130496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183413
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184480
AA Change: E606*
|
| SMART Domains |
Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: E606*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
100% (57/57) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
T |
C |
12: 21,423,406 (GRCm39) |
T10A |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,763,563 (GRCm39) |
F288S |
probably benign |
Het |
| Ago2 |
A |
G |
15: 72,991,339 (GRCm39) |
V533A |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,051,748 (GRCm39) |
V1505G |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,061,934 (GRCm39) |
I3439T |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,773,314 (GRCm39) |
Y204* |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,265,549 (GRCm39) |
E1461G |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,268,024 (GRCm39) |
A353V |
possibly damaging |
Het |
| Clec4d |
A |
G |
6: 123,244,071 (GRCm39) |
Y60C |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,228,111 (GRCm39) |
T2326S |
possibly damaging |
Het |
| Cnot1 |
G |
A |
8: 96,486,815 (GRCm39) |
L631F |
possibly damaging |
Het |
| Cntnap5a |
C |
T |
1: 116,370,026 (GRCm39) |
T881I |
probably benign |
Het |
| Col6a1 |
T |
A |
10: 76,545,740 (GRCm39) |
T911S |
unknown |
Het |
| Ctsw |
A |
G |
19: 5,515,703 (GRCm39) |
V287A |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,017,622 (GRCm39) |
E2G |
unknown |
Het |
| Cytip |
A |
T |
2: 58,037,911 (GRCm39) |
I151N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,909,577 (GRCm39) |
T4399A |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,846,980 (GRCm39) |
I883N |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,395,608 (GRCm39) |
*530W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gp1ba |
G |
A |
11: 70,532,225 (GRCm39) |
V664M |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,245,913 (GRCm39) |
I481N |
probably damaging |
Het |
| Gvin-ps5 |
T |
C |
7: 105,929,096 (GRCm39) |
|
noncoding transcript |
Het |
| Ildr2 |
A |
G |
1: 166,135,331 (GRCm39) |
D342G |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,391 (GRCm39) |
I327T |
probably benign |
Het |
| Lats1 |
T |
A |
10: 7,588,348 (GRCm39) |
C988* |
probably null |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Mast4 |
T |
C |
13: 102,872,864 (GRCm39) |
D2168G |
probably benign |
Het |
| Nek7 |
A |
G |
1: 138,443,431 (GRCm39) |
V174A |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,658,339 (GRCm39) |
C695S |
probably damaging |
Het |
| Nme8 |
A |
G |
13: 19,875,017 (GRCm39) |
|
probably null |
Het |
| Nr2c2 |
T |
C |
6: 92,131,497 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2ag18 |
A |
T |
7: 106,405,420 (GRCm39) |
I83K |
possibly damaging |
Het |
| Or4x11 |
A |
G |
2: 89,867,391 (GRCm39) |
M43V |
probably benign |
Het |
| Or51ab3 |
G |
A |
7: 103,201,150 (GRCm39) |
E53K |
probably damaging |
Het |
| Or9g19 |
A |
G |
2: 85,600,268 (GRCm39) |
N41S |
probably damaging |
Het |
| Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
| Psapl1 |
T |
A |
5: 36,361,494 (GRCm39) |
C29S |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,850 (GRCm39) |
V1632D |
probably damaging |
Het |
| Slc22a1 |
C |
T |
17: 12,886,129 (GRCm39) |
G168D |
probably damaging |
Het |
| Smad4 |
A |
G |
18: 73,808,931 (GRCm39) |
V112A |
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,935,845 (GRCm39) |
V796A |
probably benign |
Het |
| Smco4 |
A |
G |
9: 15,455,968 (GRCm39) |
E18G |
unknown |
Het |
| Spata31e2 |
T |
C |
1: 26,722,417 (GRCm39) |
E921G |
possibly damaging |
Het |
| Sugp2 |
A |
G |
8: 70,713,139 (GRCm39) |
E1035G |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,721,393 (GRCm39) |
S820P |
probably damaging |
Het |
| Syn2 |
T |
C |
6: 115,240,860 (GRCm39) |
L410P |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,844,811 (GRCm39) |
N466S |
probably damaging |
Het |
| Uba1y |
T |
G |
Y: 821,447 (GRCm39) |
|
probably null |
Het |
| Unc79 |
T |
C |
12: 103,078,769 (GRCm39) |
S1645P |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,576,217 (GRCm39) |
S363C |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,571,563 (GRCm39) |
Y458H |
probably damaging |
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 |
|
R1498:Myo6
|
UTSW |
9 |
80,214,961 (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 |
|
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'- CATTGCTTAGGAGAAGGCGG -3'
(R):5'- GTGGCACTTCTGTGATCTACCTTAC -3'
Sequencing Primer
(F):5'- GCCGTAAAAATCCAGTTCCTTGG -3'
(R):5'- CCACGCTGATGAAGCTAA -3'
|
| Genotyping |
Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.
PCR Primers
R51010034_PCR_F: 5’- CATTGCTTAGGAGAAGGCGG-3’
R51010034_PCR_R: 5’- GTGGCACTTCTGTGATCTACCTTAC-3’ Sequencing Primers
R51010034_SEQ_F: 5’- GCCGTAAAAATCCAGTTCCTTGG-3’
R51010034_SEQ_R: 5’- CCACGCTGATGAAGCTAA-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C hold The following sequence of 561 nucleotides is amplified (NCBI RefSeq: NC_000075, chromosome 9:80269733-80270293): cattgcttag gagaaggcgg taggtgtgaa gccaccctct gcagtgtggg agtgtctggc
tggttaggct tgagtagccg taaaaatcca gttccttggt actaatcacc cataaagtgc
tgactaccca tgtcctgctg tctcggacag tgtgggcatg gaacgtttgt gttttctcag
aaaactgcat ggggcagagt tcaggtaggg tatttttatc acaatgcaga tagaaacatt
ttatttgatt ttttttttca gacccagttt gtggagaaaa ataatgatgc actacatatg
tctcttgaat ccttgatatg tgagtccagg gataagttta taagggcatt atttgagtca
tctacaaata acaacaaaga tacgaaacag aaggctggaa aacttagctt catcagcgtg
ggaaacaagt tcaaggtatt tgtgctaaat atcttaattg ctgggctttt tttttttttt
tcttttttgc ctgtatttaa gataaaaaaa aaaaacccca cccattgttt tatattgtaa
ggtagatcac agaagtgcca c Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = G>T).
|
| Posted On |
2016-06-15 |
Incidental Mutation