Incidental Mutation 'R4811:Myo5a'
ID |
369441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo5a
|
Ensembl Gene |
ENSMUSG00000034593 |
Gene Name |
myosin VA |
Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
MMRRC Submission |
042430-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R4811 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
74978297-75130970 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 75048825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000123128]
[ENSMUST00000123531]
[ENSMUST00000136731]
[ENSMUST00000136731]
[ENSMUST00000155282]
[ENSMUST00000155282]
|
AlphaFold |
Q99104 |
Predicted Effect |
probably null
Transcript: ENSMUST00000123128
|
SMART Domains |
Protein: ENSMUSP00000116028 Gene: ENSMUSG00000034593
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 null
Transcript: ENSMUST00000123128
|
SMART Domains |
Protein: ENSMUSP00000116028 Gene: ENSMUSG00000034593
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 null
Transcript: ENSMUST00000136731
|
SMART Domains |
Protein: ENSMUSP00000120444 Gene: ENSMUSG00000034593
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 null
Transcript: ENSMUST00000136731
|
SMART Domains |
Protein: ENSMUSP00000120444 Gene: ENSMUSG00000034593
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 |
noncoding transcript
Transcript: ENSMUST00000142181
|
Predicted Effect |
probably null
Transcript: ENSMUST00000155282
|
SMART Domains |
Protein: ENSMUSP00000117493 Gene: ENSMUSG00000034593
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000155282
|
SMART Domains |
Protein: ENSMUSP00000117493 Gene: ENSMUSG00000034593
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
G |
A |
15: 37,425,952 (GRCm39) |
|
probably benign |
Het |
Adam3 |
C |
T |
8: 25,201,740 (GRCm39) |
G208R |
probably benign |
Het |
Arsg |
G |
T |
11: 109,424,898 (GRCm39) |
V290L |
probably benign |
Het |
Cad |
A |
G |
5: 31,232,034 (GRCm39) |
T104A |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,928,020 (GRCm39) |
N1185S |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,226,877 (GRCm39) |
T113A |
probably benign |
Het |
Crocc2 |
G |
A |
1: 93,133,618 (GRCm39) |
A967T |
probably damaging |
Het |
Cyp4f16 |
A |
G |
17: 32,764,080 (GRCm39) |
T291A |
probably benign |
Het |
Dcc |
T |
A |
18: 71,432,554 (GRCm39) |
H1300L |
probably benign |
Het |
Ddx23 |
T |
A |
15: 98,545,352 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
T |
G |
7: 105,363,488 (GRCm39) |
S4017A |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,293,703 (GRCm39) |
F729L |
probably damaging |
Het |
Ercc6 |
G |
T |
14: 32,296,886 (GRCm39) |
R1292L |
probably benign |
Het |
Fam186b |
C |
T |
15: 99,178,118 (GRCm39) |
V403M |
probably benign |
Het |
Fam227a |
T |
C |
15: 79,499,628 (GRCm39) |
N576D |
possibly damaging |
Het |
Fbln1 |
A |
G |
15: 85,111,167 (GRCm39) |
|
probably null |
Het |
Fbxw17 |
T |
C |
13: 50,579,669 (GRCm39) |
V162A |
probably benign |
Het |
Gas2l1 |
A |
C |
11: 5,014,436 (GRCm39) |
I8S |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,711,781 (GRCm39) |
L195P |
probably damaging |
Het |
Gps2 |
A |
T |
11: 69,806,754 (GRCm39) |
H233L |
probably damaging |
Het |
Guf1 |
T |
G |
5: 69,721,852 (GRCm39) |
|
probably null |
Het |
H2-T9 |
A |
G |
17: 36,438,668 (GRCm39) |
L241S |
probably damaging |
Het |
Il1rap |
T |
A |
16: 26,519,988 (GRCm39) |
|
probably null |
Het |
Ints14 |
A |
G |
9: 64,871,800 (GRCm39) |
Y46C |
probably damaging |
Het |
Kalrn |
T |
G |
16: 34,177,339 (GRCm39) |
Q293H |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,687,043 (GRCm39) |
L593P |
probably damaging |
Het |
Krt19 |
T |
C |
11: 100,032,174 (GRCm39) |
T297A |
possibly damaging |
Het |
Lcp1 |
T |
C |
14: 75,437,848 (GRCm39) |
V86A |
probably damaging |
Het |
Lins1 |
T |
A |
7: 66,357,898 (GRCm39) |
I11K |
probably benign |
Het |
Lrba |
T |
C |
3: 86,683,448 (GRCm39) |
F2757L |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,951,685 (GRCm39) |
I3762T |
probably benign |
Het |
Lyzl6 |
A |
G |
11: 103,525,851 (GRCm39) |
S90P |
possibly damaging |
Het |
Mfsd2a |
T |
A |
4: 122,853,175 (GRCm39) |
Q38L |
probably benign |
Het |
Mtss1 |
A |
G |
15: 58,815,922 (GRCm39) |
F546S |
probably damaging |
Het |
Naip6 |
C |
A |
13: 100,422,299 (GRCm39) |
G1245W |
probably damaging |
Het |
Ndfip1 |
C |
T |
18: 38,584,645 (GRCm39) |
T107I |
probably benign |
Het |
Nek8 |
C |
T |
11: 78,058,544 (GRCm39) |
|
probably null |
Het |
Nphs1 |
T |
C |
7: 30,159,854 (GRCm39) |
V55A |
probably damaging |
Het |
Nrp2 |
C |
A |
1: 62,758,240 (GRCm39) |
H75Q |
probably damaging |
Het |
Oas1e |
C |
T |
5: 120,933,448 (GRCm39) |
S39N |
probably damaging |
Het |
Or13g1 |
T |
C |
7: 85,956,166 (GRCm39) |
T52A |
probably benign |
Het |
Or2y1e |
T |
G |
11: 49,218,575 (GRCm39) |
S112R |
possibly damaging |
Het |
Or5d37 |
A |
G |
2: 87,923,876 (GRCm39) |
F135L |
probably benign |
Het |
Or7h8 |
A |
T |
9: 20,124,049 (GRCm39) |
I135F |
probably damaging |
Het |
Pan3 |
T |
A |
5: 147,466,868 (GRCm39) |
H632Q |
probably damaging |
Het |
Paqr3 |
A |
C |
5: 97,243,842 (GRCm39) |
S291A |
probably benign |
Het |
Pcdh17 |
A |
C |
14: 84,685,375 (GRCm39) |
D614A |
probably damaging |
Het |
Pcyox1l |
T |
C |
18: 61,830,606 (GRCm39) |
E422G |
possibly damaging |
Het |
Pgr |
G |
T |
9: 8,900,844 (GRCm39) |
E126* |
probably null |
Het |
Pik3ap1 |
A |
G |
19: 41,290,936 (GRCm39) |
V532A |
possibly damaging |
Het |
Pla2g4c |
T |
C |
7: 13,071,738 (GRCm39) |
I186T |
probably damaging |
Het |
Pnkd |
G |
A |
1: 74,388,564 (GRCm39) |
|
probably null |
Het |
Poc1a |
A |
G |
9: 106,226,908 (GRCm39) |
T334A |
probably damaging |
Het |
Pou2f2 |
T |
A |
7: 24,797,111 (GRCm39) |
K211* |
probably null |
Het |
Rdh13 |
T |
C |
7: 4,445,652 (GRCm39) |
E94G |
probably benign |
Het |
Rnf186 |
A |
G |
4: 138,694,498 (GRCm39) |
S13G |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,670,584 (GRCm39) |
R3471G |
probably damaging |
Het |
Sbf2 |
T |
C |
7: 109,971,742 (GRCm39) |
T831A |
probably damaging |
Het |
Sh3gl2 |
A |
G |
4: 85,316,403 (GRCm39) |
|
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,082,404 (GRCm39) |
N408S |
probably benign |
Het |
Snn |
T |
C |
16: 10,890,397 (GRCm39) |
V72A |
probably benign |
Het |
Sys1 |
T |
A |
2: 164,306,344 (GRCm39) |
H99Q |
possibly damaging |
Het |
Syt7 |
A |
G |
19: 10,412,931 (GRCm39) |
K122R |
probably damaging |
Het |
Tas1r2 |
T |
A |
4: 139,396,311 (GRCm39) |
L550Q |
probably damaging |
Het |
Tent5b |
T |
C |
4: 133,213,681 (GRCm39) |
L184P |
probably benign |
Het |
Thoc1 |
T |
C |
18: 9,993,438 (GRCm39) |
I599T |
probably damaging |
Het |
Tle3 |
C |
T |
9: 61,281,279 (GRCm39) |
|
probably benign |
Het |
Tll1 |
A |
C |
8: 64,538,507 (GRCm39) |
V379G |
possibly damaging |
Het |
Tnfrsf21 |
G |
A |
17: 43,348,621 (GRCm39) |
E78K |
probably benign |
Het |
Tpgs2 |
A |
G |
18: 25,262,897 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
T |
C |
7: 63,858,054 (GRCm39) |
L165P |
probably damaging |
Het |
Trpm5 |
T |
C |
7: 142,633,956 (GRCm39) |
Y750C |
probably damaging |
Het |
Ttbk2 |
A |
C |
2: 120,570,551 (GRCm39) |
S1201A |
possibly damaging |
Het |
Ust |
T |
A |
10: 8,121,705 (GRCm39) |
H301L |
probably damaging |
Het |
Vwa5a |
T |
C |
9: 38,647,249 (GRCm39) |
F543L |
probably benign |
Het |
Yeats2 |
T |
A |
16: 19,971,645 (GRCm39) |
|
probably null |
Het |
Zfp85 |
T |
C |
13: 67,897,745 (GRCm39) |
Y109C |
probably damaging |
Het |
Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
probably benign |
Het |
Znrf3 |
A |
T |
11: 5,237,420 (GRCm39) |
C134S |
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 |
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 |
R7108:Myo5a
|
UTSW |
9 |
75,037,274 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CAGCATGTTTGTAGGGTTGAAGTAC -3'
(R):5'- CCTTTCCAGATGCTGAAATCCAG -3'
Sequencing Primer
(F):5'- ACAACCTTCTCATAGACTAAAAACC -3'
(R):5'- TTACAAGGTTGAGACACTAGTGCCAC -3'
|
Posted On |
2016-02-04 |