Incidental Mutation 'R7108:Myo5a'
| ID |
551334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5a
|
| Ensembl Gene |
ENSMUSG00000034593 |
| Gene Name |
myosin VA |
| Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
| MMRRC Submission |
045200-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R7108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
74978297-75130970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75037274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 159
(I159N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000123531]
[ENSMUST00000136731]
[ENSMUST00000155282]
|
| AlphaFold |
Q99104 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123128
AA Change: I159N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: I159N
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
63 |
764 |
N/A |
SMART |
|
IQ
|
765 |
787 |
3.65e-4 |
SMART |
|
IQ
|
788 |
810 |
1.56e-3 |
SMART |
|
IQ
|
813 |
835 |
3.05e-6 |
SMART |
|
IQ
|
836 |
858 |
8.38e-4 |
SMART |
|
IQ
|
861 |
883 |
1.09e-2 |
SMART |
|
IQ
|
884 |
906 |
6.97e0 |
SMART |
|
coiled coil region
|
1153 |
1234 |
N/A |
INTRINSIC |
|
coiled coil region
|
1314 |
1364 |
N/A |
INTRINSIC |
|
coiled coil region
|
1406 |
1443 |
N/A |
INTRINSIC |
|
DIL
|
1685 |
1790 |
2.47e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123531
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136731
AA Change: I159N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: I159N
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
63 |
764 |
N/A |
SMART |
|
IQ
|
765 |
787 |
3.65e-4 |
SMART |
|
IQ
|
788 |
810 |
1.56e-3 |
SMART |
|
IQ
|
813 |
835 |
3.05e-6 |
SMART |
|
IQ
|
836 |
858 |
8.38e-4 |
SMART |
|
IQ
|
861 |
883 |
1.09e-2 |
SMART |
|
IQ
|
884 |
906 |
6.97e0 |
SMART |
|
coiled coil region
|
1153 |
1234 |
N/A |
INTRINSIC |
|
coiled coil region
|
1314 |
1418 |
N/A |
INTRINSIC |
|
DIL
|
1660 |
1765 |
2.47e-51 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155282
AA Change: I159N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: I159N
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
63 |
764 |
N/A |
SMART |
|
IQ
|
765 |
787 |
3.65e-4 |
SMART |
|
IQ
|
788 |
810 |
1.56e-3 |
SMART |
|
IQ
|
813 |
835 |
3.05e-6 |
SMART |
|
IQ
|
836 |
858 |
8.38e-4 |
SMART |
|
IQ
|
861 |
883 |
1.09e-2 |
SMART |
|
IQ
|
884 |
906 |
6.97e0 |
SMART |
|
coiled coil region
|
1153 |
1234 |
N/A |
INTRINSIC |
|
coiled coil region
|
1339 |
1445 |
N/A |
INTRINSIC |
|
DIL
|
1687 |
1792 |
2.47e-51 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,771,750 (GRCm39) |
S411P |
probably damaging |
Het |
| 4930503L19Rik |
A |
T |
18: 70,601,547 (GRCm39) |
Y112N |
probably benign |
Het |
| Abcd2 |
A |
T |
15: 91,075,477 (GRCm39) |
V112E |
probably benign |
Het |
| Acadm |
A |
T |
3: 153,631,437 (GRCm39) |
Y353* |
probably null |
Het |
| Adra2c |
A |
G |
5: 35,437,342 (GRCm39) |
D38G |
probably benign |
Het |
| Ankrd10 |
C |
T |
8: 11,662,624 (GRCm39) |
G370R |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,715,528 (GRCm39) |
N1324K |
possibly damaging |
Het |
| Atp6v1b2 |
A |
G |
8: 69,555,153 (GRCm39) |
T172A |
probably damaging |
Het |
| Bloc1s1 |
T |
A |
10: 128,758,592 (GRCm39) |
K22M |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,036,099 (GRCm39) |
T599A |
probably benign |
Het |
| Cacna1e |
TTCCAGTCTC |
TTC |
1: 154,344,741 (GRCm39) |
|
probably null |
Het |
| Ccdc186 |
T |
C |
19: 56,787,192 (GRCm39) |
D592G |
probably damaging |
Het |
| Cfap161 |
A |
T |
7: 83,442,518 (GRCm39) |
D98E |
possibly damaging |
Het |
| Cfi |
G |
A |
3: 129,668,665 (GRCm39) |
V564M |
probably damaging |
Het |
| Cilp2 |
T |
A |
8: 70,333,779 (GRCm39) |
Q1073L |
probably damaging |
Het |
| Cox6b1 |
A |
G |
7: 30,322,929 (GRCm39) |
C40R |
possibly damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,143 (GRCm39) |
M172L |
probably benign |
Het |
| Cyth1 |
T |
C |
11: 118,073,739 (GRCm39) |
D198G |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,767,702 (GRCm39) |
D963G |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,433,248 (GRCm39) |
D209E |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dnai7 |
G |
A |
6: 145,131,591 (GRCm39) |
Q351* |
probably null |
Het |
| Dpagt1 |
G |
T |
9: 44,238,318 (GRCm39) |
|
probably benign |
Het |
| Drc3 |
T |
A |
11: 60,261,380 (GRCm39) |
F177Y |
probably benign |
Het |
| Dsg2 |
T |
C |
18: 20,734,920 (GRCm39) |
V966A |
probably damaging |
Het |
| E4f1 |
A |
G |
17: 24,663,552 (GRCm39) |
V633A |
probably damaging |
Het |
| Eif2ak2 |
T |
A |
17: 79,165,965 (GRCm39) |
R411* |
probably null |
Het |
| Frem2 |
T |
C |
3: 53,560,934 (GRCm39) |
E1191G |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,319,251 (GRCm39) |
V972A |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,414,555 (GRCm39) |
C467S |
|
Het |
| Fscn1 |
T |
C |
5: 142,946,270 (GRCm39) |
Y23H |
probably damaging |
Het |
| Gm16506 |
T |
A |
14: 43,961,759 (GRCm39) |
I163F |
|
Het |
| Gm21103 |
T |
C |
14: 17,484,768 (GRCm39) |
Y92C |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,734,083 (GRCm39) |
H1151R |
probably benign |
Het |
| Gprc5c |
T |
C |
11: 114,755,108 (GRCm39) |
Y262H |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,929,706 (GRCm39) |
N245K |
probably benign |
Het |
| Hps6 |
T |
A |
19: 45,993,929 (GRCm39) |
L622Q |
probably damaging |
Het |
| Hsd17b1 |
T |
C |
11: 100,970,035 (GRCm39) |
Y156H |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,813,925 (GRCm39) |
F799L |
probably damaging |
Het |
| Irf1 |
A |
G |
11: 53,665,238 (GRCm39) |
D205G |
probably damaging |
Het |
| Kif12 |
A |
T |
4: 63,089,442 (GRCm39) |
F103L |
probably benign |
Het |
| Krt12 |
C |
T |
11: 99,306,878 (GRCm39) |
V475M |
unknown |
Het |
| Lca5 |
T |
A |
9: 83,305,222 (GRCm39) |
T195S |
probably benign |
Het |
| Lrrc17 |
T |
C |
5: 21,780,337 (GRCm39) |
V437A |
possibly damaging |
Het |
| Malt1 |
G |
T |
18: 65,597,122 (GRCm39) |
D468Y |
probably damaging |
Het |
| Man2b2 |
C |
T |
5: 36,972,829 (GRCm39) |
A562T |
probably benign |
Het |
| Mrc1 |
C |
T |
2: 14,308,957 (GRCm39) |
Q794* |
probably null |
Het |
| Muc16 |
T |
A |
9: 18,566,529 (GRCm39) |
I1997L |
unknown |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,360,039 (GRCm39) |
F4518Y |
probably damaging |
Het |
| Nat1 |
T |
C |
8: 67,943,672 (GRCm39) |
V19A |
probably benign |
Het |
| Ndst4 |
A |
G |
3: 125,355,120 (GRCm39) |
T343A |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,779,855 (GRCm39) |
L839F |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 72,019,198 (GRCm39) |
I9T |
probably benign |
Het |
| Odr4 |
T |
C |
1: 150,258,041 (GRCm39) |
Y198C |
probably benign |
Het |
| Or1l4b |
C |
T |
2: 37,036,272 (GRCm39) |
T16I |
probably benign |
Het |
| Or2ag12 |
G |
A |
7: 106,277,255 (GRCm39) |
A146V |
probably benign |
Het |
| Or2t49 |
T |
A |
11: 58,393,380 (GRCm39) |
M7L |
probably benign |
Het |
| Or52b4i |
A |
T |
7: 102,191,199 (GRCm39) |
I19F |
probably damaging |
Het |
| Or7a35 |
C |
A |
10: 78,853,483 (GRCm39) |
S109* |
probably null |
Het |
| Pou5f2 |
T |
C |
13: 78,173,384 (GRCm39) |
S109P |
possibly damaging |
Het |
| Prkcz |
G |
A |
4: 155,371,250 (GRCm39) |
Q321* |
probably null |
Het |
| Prr18 |
G |
T |
17: 8,560,363 (GRCm39) |
R173L |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,334,380 (GRCm39) |
Y1364H |
probably damaging |
Het |
| Ralgapb |
A |
T |
2: 158,336,582 (GRCm39) |
I1407F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,448,458 (GRCm39) |
Y3501* |
probably null |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,937,659 (GRCm39) |
H1676L |
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,689,470 (GRCm39) |
D178G |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,143,676 (GRCm39) |
K737R |
probably benign |
Het |
| Ssh2 |
G |
A |
11: 77,345,620 (GRCm39) |
V1202I |
probably benign |
Het |
| Stard7 |
A |
G |
2: 127,137,414 (GRCm39) |
D288G |
possibly damaging |
Het |
| Tek |
A |
T |
4: 94,741,724 (GRCm39) |
D827V |
probably damaging |
Het |
| Tfap2e |
A |
G |
4: 126,614,356 (GRCm39) |
L276P |
probably damaging |
Het |
| Tns3 |
T |
C |
11: 8,387,251 (GRCm39) |
N1312S |
probably benign |
Het |
| Tubd1 |
T |
A |
11: 86,448,631 (GRCm39) |
S315T |
probably damaging |
Het |
| Ube2f |
T |
A |
1: 91,192,941 (GRCm39) |
C50* |
probably null |
Het |
| Vmn2r109 |
T |
C |
17: 20,785,006 (GRCm39) |
I5V |
probably benign |
Het |
| Vmn2r39 |
T |
C |
7: 9,026,667 (GRCm39) |
T445A |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
Het |
|
| Other mutations in Myo5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Myo5a
|
APN |
9 |
75,068,779 (GRCm39) |
nonsense |
probably null |
|
|
IGL00547:Myo5a
|
APN |
9 |
75,048,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00788:Myo5a
|
APN |
9 |
75,076,241 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01327:Myo5a
|
APN |
9 |
75,094,820 (GRCm39) |
splice site |
probably benign |
|
|
IGL01687:Myo5a
|
APN |
9 |
75,063,531 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01886:Myo5a
|
APN |
9 |
75,076,372 (GRCm39) |
splice site |
probably benign |
|
|
IGL01945:Myo5a
|
APN |
9 |
75,047,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02127:Myo5a
|
APN |
9 |
75,120,263 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02137:Myo5a
|
APN |
9 |
75,068,817 (GRCm39) |
splice site |
probably null |
|
|
IGL02183:Myo5a
|
APN |
9 |
75,074,518 (GRCm39) |
splice site |
probably benign |
|
|
IGL02427:Myo5a
|
APN |
9 |
75,083,900 (GRCm39) |
splice site |
probably benign |
|
|
IGL02490:Myo5a
|
APN |
9 |
75,043,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02574:Myo5a
|
APN |
9 |
75,118,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02886:Myo5a
|
APN |
9 |
75,059,169 (GRCm39) |
splice site |
probably benign |
|
|
IGL02961:Myo5a
|
APN |
9 |
75,122,402 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03090:Myo5a
|
APN |
9 |
75,028,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Myo5a
|
APN |
9 |
75,081,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03237:Myo5a
|
APN |
9 |
75,037,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03296:Myo5a
|
APN |
9 |
75,023,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
naoki
|
UTSW |
9 |
75,068,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
new_gray
|
UTSW |
9 |
0 () |
missense |
|
|
|
nut
|
UTSW |
9 |
0 () |
splice donor site |
|
|
|
silver_decerebrate
|
UTSW |
9 |
75,071,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
silver_decerebrate_2
|
UTSW |
9 |
75,118,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Myo5a
|
UTSW |
9 |
75,037,423 (GRCm39) |
splice site |
probably benign |
|
|
IGL03050:Myo5a
|
UTSW |
9 |
75,054,191 (GRCm39) |
splice site |
probably null |
|
|
PIT4403001:Myo5a
|
UTSW |
9 |
75,124,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Myo5a
|
UTSW |
9 |
75,063,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Myo5a
|
UTSW |
9 |
75,063,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Myo5a
|
UTSW |
9 |
75,068,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Myo5a
|
UTSW |
9 |
75,067,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0243:Myo5a
|
UTSW |
9 |
75,093,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0395:Myo5a
|
UTSW |
9 |
75,101,259 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0427:Myo5a
|
UTSW |
9 |
75,081,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0545:Myo5a
|
UTSW |
9 |
75,074,319 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0565:Myo5a
|
UTSW |
9 |
75,087,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0601:Myo5a
|
UTSW |
9 |
75,081,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1457:Myo5a
|
UTSW |
9 |
75,120,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1510:Myo5a
|
UTSW |
9 |
75,078,833 (GRCm39) |
missense |
probably benign |
|
|
R1548:Myo5a
|
UTSW |
9 |
75,079,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Myo5a
|
UTSW |
9 |
75,089,275 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1924:Myo5a
|
UTSW |
9 |
75,023,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Myo5a
|
UTSW |
9 |
75,055,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2050:Myo5a
|
UTSW |
9 |
75,054,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2070:Myo5a
|
UTSW |
9 |
75,089,266 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2075:Myo5a
|
UTSW |
9 |
75,097,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2148:Myo5a
|
UTSW |
9 |
75,087,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Myo5a
|
UTSW |
9 |
75,125,225 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2337:Myo5a
|
UTSW |
9 |
75,111,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2357:Myo5a
|
UTSW |
9 |
75,108,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2392:Myo5a
|
UTSW |
9 |
75,116,521 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2432:Myo5a
|
UTSW |
9 |
75,120,155 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2568:Myo5a
|
UTSW |
9 |
75,059,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Myo5a
|
UTSW |
9 |
75,030,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2932:Myo5a
|
UTSW |
9 |
75,103,418 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2971:Myo5a
|
UTSW |
9 |
75,023,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4231:Myo5a
|
UTSW |
9 |
75,097,279 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4293:Myo5a
|
UTSW |
9 |
75,051,453 (GRCm39) |
missense |
probably benign |
|
|
R4321:Myo5a
|
UTSW |
9 |
75,124,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4450:Myo5a
|
UTSW |
9 |
75,074,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4573:Myo5a
|
UTSW |
9 |
75,108,579 (GRCm39) |
splice site |
probably null |
|
|
R4577:Myo5a
|
UTSW |
9 |
75,124,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Myo5a
|
UTSW |
9 |
75,043,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Myo5a
|
UTSW |
9 |
75,061,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4691:Myo5a
|
UTSW |
9 |
75,087,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4764:Myo5a
|
UTSW |
9 |
75,023,618 (GRCm39) |
intron |
probably benign |
|
|
R4767:Myo5a
|
UTSW |
9 |
75,051,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4811:Myo5a
|
UTSW |
9 |
75,048,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4829:Myo5a
|
UTSW |
9 |
75,043,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Myo5a
|
UTSW |
9 |
75,124,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Myo5a
|
UTSW |
9 |
75,081,360 (GRCm39) |
missense |
probably benign |
|
|
R4947:Myo5a
|
UTSW |
9 |
75,030,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Myo5a
|
UTSW |
9 |
75,081,438 (GRCm39) |
missense |
probably benign |
|
|
R5095:Myo5a
|
UTSW |
9 |
75,091,671 (GRCm39) |
nonsense |
probably null |
|
|
R5095:Myo5a
|
UTSW |
9 |
75,059,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5254:Myo5a
|
UTSW |
9 |
75,037,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Myo5a
|
UTSW |
9 |
75,059,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Myo5a
|
UTSW |
9 |
75,055,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Myo5a
|
UTSW |
9 |
75,061,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5629:Myo5a
|
UTSW |
9 |
75,111,127 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5649:Myo5a
|
UTSW |
9 |
75,079,001 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5661:Myo5a
|
UTSW |
9 |
75,074,488 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5665:Myo5a
|
UTSW |
9 |
75,051,463 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5719:Myo5a
|
UTSW |
9 |
75,059,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Myo5a
|
UTSW |
9 |
75,111,115 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6014:Myo5a
|
UTSW |
9 |
75,074,489 (GRCm39) |
nonsense |
probably null |
|
|
R6344:Myo5a
|
UTSW |
9 |
75,067,791 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6345:Myo5a
|
UTSW |
9 |
75,097,195 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6644:Myo5a
|
UTSW |
9 |
75,054,249 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6712:Myo5a
|
UTSW |
9 |
75,120,182 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6838:Myo5a
|
UTSW |
9 |
75,061,165 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6866:Myo5a
|
UTSW |
9 |
75,047,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6876:Myo5a
|
UTSW |
9 |
75,067,772 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7159:Myo5a
|
UTSW |
9 |
75,078,845 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7164:Myo5a
|
UTSW |
9 |
75,087,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7219:Myo5a
|
UTSW |
9 |
75,028,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Myo5a
|
UTSW |
9 |
75,104,983 (GRCm39) |
missense |
|
|
|
R7620:Myo5a
|
UTSW |
9 |
75,071,418 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7719:Myo5a
|
UTSW |
9 |
75,051,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7810:Myo5a
|
UTSW |
9 |
75,076,292 (GRCm39) |
missense |
probably benign |
|
|
R7810:Myo5a
|
UTSW |
9 |
75,067,747 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7866:Myo5a
|
UTSW |
9 |
75,111,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7939:Myo5a
|
UTSW |
9 |
75,097,182 (GRCm39) |
missense |
|
|
|
R8050:Myo5a
|
UTSW |
9 |
75,089,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8061:Myo5a
|
UTSW |
9 |
75,030,239 (GRCm39) |
nonsense |
probably null |
|
|
R8326:Myo5a
|
UTSW |
9 |
75,125,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8529:Myo5a
|
UTSW |
9 |
75,120,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8824:Myo5a
|
UTSW |
9 |
75,074,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:Myo5a
|
UTSW |
9 |
75,091,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9040:Myo5a
|
UTSW |
9 |
75,081,341 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9092:Myo5a
|
UTSW |
9 |
75,054,414 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9249:Myo5a
|
UTSW |
9 |
75,097,279 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9274:Myo5a
|
UTSW |
9 |
75,097,279 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9293:Myo5a
|
UTSW |
9 |
75,087,312 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9366:Myo5a
|
UTSW |
9 |
75,124,800 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9410:Myo5a
|
UTSW |
9 |
75,023,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9644:Myo5a
|
UTSW |
9 |
75,043,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Myo5a
|
UTSW |
9 |
75,099,726 (GRCm39) |
missense |
|
|
|
R9748:Myo5a
|
UTSW |
9 |
75,091,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9766:Myo5a
|
UTSW |
9 |
75,078,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0010:Myo5a
|
UTSW |
9 |
75,093,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Myo5a
|
UTSW |
9 |
75,093,318 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCAGTACTACAGAGTTGTCC -3'
(R):5'- TCAGGTAGTCAGTCTGTTTCTTAAC -3'
Sequencing Primer
(F):5'- CTACAGAGTTGTCCGTAGTTACAC -3'
(R):5'- AGTCAGTCTGTTTCTTAACTAGAGAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation