Incidental Mutation 'R9748:Myo5a'
| ID |
732334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5a
|
| Ensembl Gene |
ENSMUSG00000034593 |
| Gene Name |
myosin VA |
| Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R9748 (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 C
at 75091965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1205
(S1205P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000129281]
[ENSMUST00000136731]
[ENSMUST00000148144]
[ENSMUST00000155282]
|
| AlphaFold |
Q99104 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123128
AA Change: S1205P
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: S1205P
| 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: ENSMUST00000129281
|
| SMART Domains |
Protein: ENSMUSP00000118881
Gene: ENSMUSG00000034593
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
27 |
N/A |
INTRINSIC |
|
coiled coil region
|
129 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130384
|
| SMART Domains |
Protein: ENSMUSP00000114803
Gene: ENSMUSG00000034593
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
95 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136731
AA Change: S1205P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: S1205P
| 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 benign
Transcript: ENSMUST00000148144
|
| SMART Domains |
Protein: ENSMUSP00000121158
Gene: ENSMUSG00000034593
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
71 |
175 |
N/A |
INTRINSIC |
|
Blast:DIL
|
275 |
305 |
4e-13 |
BLAST |
|
Blast:DIL
|
330 |
355 |
5e-6 |
BLAST |
|
DIL
|
417 |
522 |
2.47e-51 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155282
AA Change: S1205P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: S1205P
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
C |
8: 25,301,068 (GRCm39) |
T221A |
probably benign |
Het |
| Adamts12 |
G |
A |
15: 11,310,628 (GRCm39) |
V962I |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,488,640 (GRCm39) |
I931F |
probably damaging |
Het |
| Anxa2r2 |
T |
A |
13: 120,488,200 (GRCm39) |
E116D |
possibly damaging |
Het |
| Arih1 |
T |
G |
9: 59,300,581 (GRCm39) |
D555A |
possibly damaging |
Het |
| Arsg |
A |
G |
11: 109,381,452 (GRCm39) |
D65G |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,364,407 (GRCm39) |
T567I |
probably damaging |
Het |
| Camkk2 |
G |
C |
5: 122,872,182 (GRCm39) |
R575G |
probably benign |
Het |
| Ccdc168 |
G |
T |
1: 44,095,824 (GRCm39) |
S1758Y |
possibly damaging |
Het |
| Ccdc88b |
G |
T |
19: 6,831,461 (GRCm39) |
L494M |
probably damaging |
Het |
| Cdc7 |
A |
G |
5: 107,123,405 (GRCm39) |
K317E |
possibly damaging |
Het |
| Cfh |
A |
G |
1: 140,090,687 (GRCm39) |
|
probably null |
Het |
| Cp |
T |
G |
3: 20,043,335 (GRCm39) |
V1041G |
possibly damaging |
Het |
| Cpeb3 |
A |
G |
19: 37,151,926 (GRCm39) |
V150A |
probably benign |
Het |
| Cyp7a1 |
T |
A |
4: 6,269,216 (GRCm39) |
E352V |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,976,290 (GRCm39) |
H1253L |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,672,761 (GRCm39) |
S811P |
possibly damaging |
Het |
| Efcab5 |
A |
T |
11: 77,007,022 (GRCm39) |
Y867* |
probably null |
Het |
| Eif2ak1 |
A |
G |
5: 143,819,031 (GRCm39) |
T231A |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,247,730 (GRCm39) |
C256S |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,090,241 (GRCm39) |
N1140S |
possibly damaging |
Het |
| Etnppl |
A |
T |
3: 130,414,002 (GRCm39) |
M34L |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,364,469 (GRCm39) |
C549W |
possibly damaging |
Het |
| Fhod1 |
G |
A |
8: 106,058,323 (GRCm39) |
A811V |
probably damaging |
Het |
| Flcn |
C |
T |
11: 59,692,980 (GRCm39) |
S198N |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,929 (GRCm39) |
H589L |
unknown |
Het |
| Gm8108 |
G |
T |
14: 4,110,527 (GRCm38) |
|
probably benign |
Het |
| Hcn4 |
C |
T |
9: 58,730,996 (GRCm39) |
R68W |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,926,336 (GRCm39) |
L38P |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,349,496 (GRCm39) |
T351A |
probably benign |
Het |
| Ildr2 |
T |
C |
1: 166,096,889 (GRCm39) |
L36P |
probably damaging |
Het |
| Itgb1bp1 |
C |
T |
12: 21,324,876 (GRCm39) |
C60Y |
probably damaging |
Het |
| Jrk |
A |
G |
15: 74,579,225 (GRCm39) |
L20P |
probably damaging |
Het |
| Kif5c |
C |
T |
2: 49,584,859 (GRCm39) |
A194V |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,316,116 (GRCm39) |
L745F |
probably damaging |
Het |
| Ly9 |
A |
T |
1: 171,428,722 (GRCm39) |
D299E |
possibly damaging |
Het |
| Mfsd1 |
C |
T |
3: 67,499,910 (GRCm39) |
T185I |
possibly damaging |
Het |
| Mprip |
A |
G |
11: 59,656,348 (GRCm39) |
Y808C |
probably damaging |
Het |
| Mrps2 |
C |
A |
2: 28,359,594 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,024,398 (GRCm39) |
D438V |
probably damaging |
Het |
| Mturn |
A |
T |
6: 54,665,989 (GRCm39) |
|
probably null |
Het |
| Nckap5 |
G |
A |
1: 125,953,939 (GRCm39) |
P871L |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,421,631 (GRCm39) |
I401F |
probably benign |
Het |
| Nek4 |
G |
A |
14: 30,709,114 (GRCm39) |
V723M |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,506,667 (GRCm39) |
S478P |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,123,538 (GRCm39) |
Y70C |
probably damaging |
Het |
| Nup88 |
T |
C |
11: 70,860,497 (GRCm39) |
E94G |
probably benign |
Het |
| Oas1h |
A |
T |
5: 121,005,088 (GRCm39) |
N179Y |
probably damaging |
Het |
| Or1o11 |
T |
G |
17: 37,756,595 (GRCm39) |
V61G |
probably benign |
Het |
| Or8b39 |
T |
A |
9: 37,996,353 (GRCm39) |
S74T |
probably benign |
Het |
| Otof |
T |
C |
5: 30,540,998 (GRCm39) |
D847G |
probably damaging |
Het |
| Pak1 |
C |
A |
7: 97,547,842 (GRCm39) |
D331E |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,373,555 (GRCm39) |
W1374R |
probably benign |
Het |
| Pkdrej |
G |
T |
15: 85,704,871 (GRCm39) |
T355K |
possibly damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,892 (GRCm39) |
*492W |
probably null |
Het |
| Prkcd |
A |
T |
14: 30,320,800 (GRCm39) |
F607I |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,535,435 (GRCm39) |
S775P |
unknown |
Het |
| Prss16 |
G |
T |
13: 22,192,504 (GRCm39) |
H154N |
possibly damaging |
Het |
| Psme2b |
T |
C |
11: 48,836,779 (GRCm39) |
D56G |
possibly damaging |
Het |
| Rapsn |
C |
T |
2: 90,875,823 (GRCm39) |
P400L |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,761 (GRCm39) |
D698G |
possibly damaging |
Het |
| Rragc |
T |
C |
4: 123,818,658 (GRCm39) |
V291A |
possibly damaging |
Het |
| Rras2 |
A |
G |
7: 113,716,629 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scyl2 |
A |
C |
10: 89,476,794 (GRCm39) |
M777R |
probably benign |
Het |
| Serhl |
G |
T |
15: 82,998,597 (GRCm39) |
V235L |
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,955,874 (GRCm39) |
Y536C |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,257,093 (GRCm39) |
M570V |
probably benign |
Het |
| Slamf8 |
C |
T |
1: 172,411,800 (GRCm39) |
V232M |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,929,941 (GRCm39) |
L143Q |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,949,670 (GRCm39) |
D123E |
probably benign |
Het |
| Spopfm2 |
G |
A |
3: 94,083,155 (GRCm39) |
H219Y |
probably damaging |
Het |
| Supt6 |
C |
A |
11: 78,108,767 (GRCm39) |
R1178L |
probably damaging |
Het |
| Sycp2 |
T |
G |
2: 178,025,304 (GRCm39) |
E379D |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,719,008 (GRCm39) |
M2655V |
possibly damaging |
Het |
| Tiam2 |
C |
T |
17: 3,561,440 (GRCm39) |
T1335I |
probably benign |
Het |
| Tmem154 |
T |
A |
3: 84,573,693 (GRCm39) |
L12Q |
possibly damaging |
Het |
| Trpv3 |
A |
T |
11: 73,174,499 (GRCm39) |
I289F |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,699,758 (GRCm39) |
L365P |
probably damaging |
Het |
| Tulp4 |
T |
C |
17: 6,291,480 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,142,072 (GRCm39) |
S163P |
possibly damaging |
Het |
| Usp42 |
A |
T |
5: 143,713,533 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
A |
G |
17: 18,463,989 (GRCm39) |
M767T |
probably benign |
Het |
| Wasl |
A |
G |
6: 24,619,533 (GRCm39) |
V329A |
unknown |
Het |
| Wdr62 |
T |
A |
7: 29,953,466 (GRCm39) |
M635L |
possibly damaging |
Het |
| Wee1 |
G |
T |
7: 109,721,722 (GRCm39) |
E56* |
probably null |
Het |
| Zc3h12c |
C |
T |
9: 52,055,231 (GRCm39) |
G193S |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,637,008 (GRCm39) |
Q1426L |
possibly damaging |
Het |
| Zfp74 |
T |
C |
7: 29,634,751 (GRCm39) |
Y319C |
probably damaging |
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 |
|
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 |
|
|
|
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'- GCTCTGCGGTACTTGGTTAAAG -3'
(R):5'- GCTAGGACTAGTGCTTGAGTAAG -3'
Sequencing Primer
(F):5'- GTTGTGAATGCTTTGACACAACACTG -3'
(R):5'- ATTTCTGAGCTCAAGGCCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation