Incidental Mutation 'R9366:Myo5a'
ID |
708987 |
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: 0.961)
|
Stock # |
R9366 (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 75124800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1785
(L1785Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000136731]
[ENSMUST00000148144]
[ENSMUST00000155282]
|
AlphaFold |
Q99104 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123128
AA Change: L1783Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116028 Gene: ENSMUSG00000034593 AA Change: L1783Q
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 damaging
Transcript: ENSMUST00000136731
AA Change: L1758Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000120444 Gene: ENSMUSG00000034593 AA Change: L1758Q
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: ENSMUST00000148144
AA Change: L515Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121158 Gene: ENSMUSG00000034593 AA Change: L515Q
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: L1785Q
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117493 Gene: ENSMUSG00000034593 AA Change: L1785Q
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: 99.1%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
C |
T |
8: 71,914,328 (GRCm39) |
R100Q |
probably benign |
Het |
Acp5 |
C |
T |
9: 22,039,224 (GRCm39) |
C163Y |
probably damaging |
Het |
Ankrd17 |
C |
T |
5: 90,416,508 (GRCm39) |
R1108Q |
probably damaging |
Het |
Atp2b4 |
C |
A |
1: 133,642,920 (GRCm39) |
G1062C |
probably damaging |
Het |
Bicral |
A |
T |
17: 47,117,558 (GRCm39) |
M788K |
possibly damaging |
Het |
C1s2 |
C |
A |
6: 124,602,694 (GRCm39) |
A506S |
probably benign |
Het |
Capn9 |
C |
G |
8: 125,332,280 (GRCm39) |
T417S |
probably benign |
Het |
Cd109 |
T |
G |
9: 78,622,275 (GRCm39) |
S1422A |
probably benign |
Het |
Cd207 |
G |
T |
6: 83,648,779 (GRCm39) |
N294K |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,921,675 (GRCm39) |
E605G |
probably damaging |
Het |
Cdhr1 |
C |
A |
14: 36,811,463 (GRCm39) |
G216V |
possibly damaging |
Het |
Ckap2 |
A |
T |
8: 22,658,988 (GRCm39) |
M585K |
possibly damaging |
Het |
Clp1 |
G |
T |
2: 84,556,473 (GRCm39) |
S2R |
probably benign |
Het |
Cngb3 |
G |
T |
4: 19,395,983 (GRCm39) |
V342F |
probably benign |
Het |
Col18a1 |
T |
C |
10: 76,932,258 (GRCm39) |
D65G |
unknown |
Het |
Col3a1 |
C |
T |
1: 45,380,391 (GRCm39) |
P972S |
unknown |
Het |
Cxcr5 |
C |
T |
9: 44,424,730 (GRCm39) |
C309Y |
possibly damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Dcc |
A |
T |
18: 71,708,281 (GRCm39) |
N478K |
probably damaging |
Het |
Emb |
G |
T |
13: 117,357,096 (GRCm39) |
|
probably benign |
Het |
Emsy |
A |
T |
7: 98,290,860 (GRCm39) |
N101K |
probably benign |
Het |
Epb41l5 |
A |
G |
1: 119,548,448 (GRCm39) |
Y137H |
probably damaging |
Het |
Etfdh |
C |
T |
3: 79,519,271 (GRCm39) |
G354D |
probably benign |
Het |
Fa2h |
A |
T |
8: 112,076,006 (GRCm39) |
Y206N |
probably benign |
Het |
Gabrr2 |
T |
C |
4: 33,085,771 (GRCm39) |
V217A |
|
Het |
Gimap4 |
A |
G |
6: 48,668,037 (GRCm39) |
K264R |
probably benign |
Het |
Gpr31b |
C |
A |
17: 13,270,375 (GRCm39) |
D265Y |
probably damaging |
Het |
Irx4 |
A |
G |
13: 73,417,025 (GRCm39) |
T474A |
probably benign |
Het |
Kif21a |
T |
C |
15: 90,843,951 (GRCm39) |
E1096G |
probably damaging |
Het |
Letm2 |
A |
T |
8: 26,084,165 (GRCm39) |
V22E |
probably damaging |
Het |
Lrrc45 |
A |
G |
11: 120,611,552 (GRCm39) |
E642G |
probably damaging |
Het |
Mark1 |
A |
T |
1: 184,653,792 (GRCm39) |
V170E |
probably damaging |
Het |
Mbd6 |
G |
A |
10: 127,122,304 (GRCm39) |
Q175* |
probably null |
Het |
Mrc1 |
T |
A |
2: 14,321,709 (GRCm39) |
D1067E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,417,041 (GRCm39) |
H3329R |
probably benign |
Het |
Myh1 |
A |
T |
11: 67,110,114 (GRCm39) |
D1434V |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,670,358 (GRCm39) |
I295T |
possibly damaging |
Het |
Nav3 |
C |
A |
10: 109,659,364 (GRCm39) |
R751L |
probably damaging |
Het |
Neb |
T |
C |
2: 52,172,699 (GRCm39) |
K1536R |
probably benign |
Het |
Nynrin |
T |
G |
14: 56,100,587 (GRCm39) |
S126A |
probably damaging |
Het |
Or13p3 |
A |
T |
4: 118,566,831 (GRCm39) |
T76S |
probably damaging |
Het |
Or5m8 |
A |
G |
2: 85,822,731 (GRCm39) |
D190G |
possibly damaging |
Het |
Or6c69c |
A |
T |
10: 129,911,067 (GRCm39) |
K263* |
probably null |
Het |
Parp14 |
A |
C |
16: 35,659,630 (GRCm39) |
|
probably null |
Het |
Phldb1 |
G |
T |
9: 44,622,546 (GRCm39) |
L36M |
possibly damaging |
Het |
Pin1 |
C |
A |
9: 20,566,841 (GRCm39) |
T81N |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,410,308 (GRCm39) |
I2605T |
probably benign |
Het |
Plcb3 |
A |
G |
19: 6,937,658 (GRCm39) |
|
probably null |
Het |
Proser3 |
G |
A |
7: 30,248,478 (GRCm39) |
S72L |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,783,344 (GRCm39) |
S598T |
probably benign |
Het |
Pwp1 |
T |
A |
10: 85,717,870 (GRCm39) |
N269K |
probably damaging |
Het |
Qsox1 |
A |
G |
1: 155,665,162 (GRCm39) |
S260P |
probably benign |
Het |
Ric3 |
A |
G |
7: 108,653,644 (GRCm39) |
L149P |
probably damaging |
Het |
Rif1 |
A |
G |
2: 52,010,356 (GRCm39) |
T707A |
|
Het |
Rnf213 |
A |
C |
11: 119,327,057 (GRCm39) |
R1682S |
|
Het |
Rpgrip1l |
G |
T |
8: 91,996,809 (GRCm39) |
Y690* |
probably null |
Het |
Slc29a2 |
A |
G |
19: 5,074,609 (GRCm39) |
T34A |
probably damaging |
Het |
Slc6a1 |
A |
G |
6: 114,280,974 (GRCm39) |
N176S |
possibly damaging |
Het |
Slco1b2 |
T |
A |
6: 141,602,552 (GRCm39) |
Y168* |
probably null |
Het |
Snca |
C |
A |
6: 60,792,675 (GRCm39) |
A78S |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,058,010 (GRCm39) |
D257E |
probably benign |
Het |
Srebf2 |
T |
C |
15: 82,083,837 (GRCm39) |
V959A |
probably benign |
Het |
Stk3 |
A |
C |
15: 35,072,634 (GRCm39) |
I209S |
probably damaging |
Het |
Thsd7a |
A |
T |
6: 12,555,480 (GRCm39) |
C135S |
|
Het |
Tlnrd1 |
G |
T |
7: 83,531,582 (GRCm39) |
A283E |
probably benign |
Het |
Tomm70a |
A |
T |
16: 56,970,259 (GRCm39) |
K546* |
probably null |
Het |
Trak1 |
C |
T |
9: 121,301,578 (GRCm39) |
T778I |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,808,937 (GRCm39) |
I709V |
probably benign |
Het |
Trgc3 |
A |
G |
13: 19,446,825 (GRCm39) |
T115A |
probably benign |
Het |
Trp53rkb |
T |
C |
2: 166,637,700 (GRCm39) |
S219P |
possibly damaging |
Het |
Ubqlnl |
G |
C |
7: 103,798,592 (GRCm39) |
L302V |
possibly damaging |
Het |
Uqcc1 |
C |
A |
2: 155,771,995 (GRCm39) |
|
probably benign |
Het |
Vps13a |
G |
A |
19: 16,672,894 (GRCm39) |
R1293W |
probably damaging |
Het |
Vps9d1 |
G |
T |
8: 123,974,486 (GRCm39) |
S267* |
probably null |
Het |
Vwa5b1 |
A |
T |
4: 138,318,229 (GRCm39) |
I546N |
probably damaging |
Het |
Zbtb8b |
A |
T |
4: 129,326,151 (GRCm39) |
M338K |
probably benign |
Het |
Zfp652 |
C |
T |
11: 95,643,833 (GRCm39) |
R344* |
probably null |
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 |
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'- AAATAGGGGCACTTTTCCCC -3'
(R):5'- GGGTATCAATCCTTCCAACTTGC -3'
Sequencing Primer
(F):5'- TCTTGTAAAACTTCAAACACAAAGGC -3'
(R):5'- CCTTCCAACTTGCAAGATATTTTTC -3'
|
Posted On |
2022-04-18 |