Incidental Mutation 'R4829:Myo5a'
| ID |
372681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5a
|
| Ensembl Gene |
ENSMUSG00000034593 |
| Gene Name |
myosin VA |
| Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
| MMRRC Submission |
042445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R4829 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
74978297-75130970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75043689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 226
(I226T)
|
| 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: I226T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: I226T
| 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: I226T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: I226T
| 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 damaging
Transcript: ENSMUST00000155282
AA Change: I226T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: I226T
| 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 |
noncoding transcript
Transcript: ENSMUST00000159458
|
| Meta Mutation Damage Score |
0.6631 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
98% (109/111) |
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,780 (GRCm39) |
V1323A |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,773,214 (GRCm39) |
L814P |
probably damaging |
Het |
| Acat1 |
C |
A |
9: 53,502,756 (GRCm39) |
G191V |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,190,500 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
T |
15: 94,224,277 (GRCm39) |
D1184E |
probably benign |
Het |
| Adss1 |
T |
C |
12: 112,601,147 (GRCm39) |
L283P |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,070,272 (GRCm39) |
|
probably null |
Het |
| Arid4b |
T |
A |
13: 14,359,023 (GRCm39) |
D599E |
probably benign |
Het |
| AW146154 |
T |
C |
7: 41,130,057 (GRCm39) |
K353R |
possibly damaging |
Het |
| Axdnd1 |
G |
T |
1: 156,204,216 (GRCm39) |
R547S |
possibly damaging |
Het |
| Bcat1 |
A |
T |
6: 144,961,201 (GRCm39) |
F134Y |
probably damaging |
Het |
| Camk2d |
C |
A |
3: 126,573,646 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
G |
7: 29,400,550 (GRCm39) |
K268T |
probably damaging |
Het |
| Ccar1 |
A |
C |
10: 62,581,114 (GRCm39) |
F1103L |
unknown |
Het |
| Ccdc141 |
T |
A |
2: 76,905,260 (GRCm39) |
E395D |
probably damaging |
Het |
| Cdc37l1 |
A |
G |
19: 28,967,983 (GRCm39) |
T16A |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,931,202 (GRCm39) |
|
probably null |
Het |
| Cfap96 |
T |
C |
8: 46,420,952 (GRCm39) |
I159V |
probably damaging |
Het |
| Cntn5 |
T |
G |
9: 9,976,288 (GRCm39) |
K219Q |
probably damaging |
Het |
| Col23a1 |
C |
A |
11: 51,448,413 (GRCm39) |
A202E |
unknown |
Het |
| Csmd1 |
G |
A |
8: 16,177,310 (GRCm39) |
L1318F |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,028,895 (GRCm39) |
A16V |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,504,696 (GRCm39) |
I1942V |
probably benign |
Het |
| Dab2 |
A |
G |
15: 6,454,162 (GRCm39) |
D224G |
probably damaging |
Het |
| Ddr1 |
A |
T |
17: 35,996,005 (GRCm39) |
C625S |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,796,338 (GRCm39) |
V788A |
probably damaging |
Het |
| Dgcr2 |
T |
C |
16: 17,660,617 (GRCm39) |
E402G |
possibly damaging |
Het |
| Dhcr7 |
T |
G |
7: 143,391,654 (GRCm39) |
I81S |
probably damaging |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,489,199 (GRCm39) |
T3467I |
probably damaging |
Het |
| Fblim1 |
T |
C |
4: 141,312,020 (GRCm39) |
E235G |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,651,662 (GRCm39) |
M548L |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,229,489 (GRCm39) |
Y97H |
probably damaging |
Het |
| Glb1l |
A |
T |
1: 75,176,994 (GRCm39) |
S481T |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,056,407 (GRCm39) |
V22E |
possibly damaging |
Het |
| Grin1 |
A |
G |
2: 25,208,736 (GRCm39) |
S55P |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,756,240 (GRCm39) |
D760G |
probably benign |
Het |
| Hpn |
A |
G |
7: 30,798,300 (GRCm39) |
|
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,372,266 (GRCm39) |
V73A |
probably damaging |
Het |
| Ighv1-42 |
T |
C |
12: 114,900,788 (GRCm39) |
Y80C |
probably benign |
Het |
| Ighv1-64 |
T |
C |
12: 115,471,346 (GRCm39) |
K57R |
probably benign |
Het |
| Klc1 |
T |
C |
12: 111,762,037 (GRCm39) |
I569T |
probably damaging |
Het |
| Klra3 |
T |
G |
6: 130,300,579 (GRCm39) |
K263N |
probably benign |
Het |
| Lrcol1 |
C |
A |
5: 110,502,393 (GRCm39) |
H90N |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,455,368 (GRCm39) |
E921G |
possibly damaging |
Het |
| Mark1 |
G |
A |
1: 184,637,724 (GRCm39) |
R622W |
possibly damaging |
Het |
| Mdga1 |
A |
G |
17: 30,065,343 (GRCm39) |
S696P |
possibly damaging |
Het |
| Mmp1b |
C |
T |
9: 7,370,729 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtnr1a |
T |
C |
8: 45,538,652 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
G |
T |
2: 155,257,147 (GRCm39) |
P799T |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,164,010 (GRCm39) |
|
probably null |
Het |
| Nxph3 |
T |
C |
11: 95,402,321 (GRCm39) |
E31G |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,945,072 (GRCm39) |
I4649V |
probably null |
Het |
| Or10d4b |
A |
T |
9: 39,534,734 (GRCm39) |
H103L |
probably damaging |
Het |
| Or8b12b |
G |
T |
9: 37,684,243 (GRCm39) |
C96F |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,663 (GRCm39) |
Y120N |
probably damaging |
Het |
| Or8h10 |
G |
A |
2: 86,808,918 (GRCm39) |
S74L |
probably damaging |
Het |
| P3h3 |
G |
A |
6: 124,818,601 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,587,797 (GRCm39) |
|
probably null |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,097,224 (GRCm39) |
S792P |
probably damaging |
Het |
| Plppr4 |
A |
T |
3: 117,129,240 (GRCm39) |
L76M |
possibly damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,709 (GRCm39) |
S205T |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,519,939 (GRCm39) |
D1126N |
possibly damaging |
Het |
| Prrt4 |
G |
A |
6: 29,177,181 (GRCm39) |
S196L |
probably benign |
Het |
| Ptpn21 |
A |
C |
12: 98,655,555 (GRCm39) |
S471A |
probably damaging |
Het |
| Ptprk |
C |
A |
10: 28,456,480 (GRCm39) |
S9* |
probably null |
Het |
| Rassf4 |
A |
T |
6: 116,622,103 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rgs22 |
C |
A |
15: 36,104,034 (GRCm39) |
R142S |
probably damaging |
Het |
| Rit2 |
C |
A |
18: 31,345,726 (GRCm39) |
L73F |
probably damaging |
Het |
| Rrbp1 |
A |
C |
2: 143,831,607 (GRCm39) |
S187A |
probably benign |
Het |
| Rspo2 |
A |
T |
15: 42,956,583 (GRCm39) |
Y83* |
probably null |
Het |
| Scn5a |
C |
T |
9: 119,363,773 (GRCm39) |
V456M |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,382,057 (GRCm39) |
H290L |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,550,623 (GRCm39) |
I452T |
probably damaging |
Het |
| Smc2 |
T |
A |
4: 52,449,612 (GRCm39) |
I198K |
probably damaging |
Het |
| Smim14 |
G |
A |
5: 65,617,946 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
A |
C |
2: 121,938,936 (GRCm39) |
N339K |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,065,493 (GRCm39) |
E2014G |
probably benign |
Het |
| Stk4 |
T |
C |
2: 163,941,747 (GRCm39) |
|
probably null |
Het |
| Sypl1 |
C |
T |
12: 33,017,645 (GRCm39) |
T121M |
probably damaging |
Het |
| Tas2r120 |
T |
A |
6: 132,634,331 (GRCm39) |
F138I |
probably benign |
Het |
| Tcstv4 |
G |
A |
13: 120,769,926 (GRCm39) |
C82Y |
possibly damaging |
Het |
| Tet2 |
A |
C |
3: 133,182,381 (GRCm39) |
C1194W |
possibly damaging |
Het |
| Tex29 |
T |
C |
8: 11,905,668 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf22 |
T |
A |
7: 143,197,067 (GRCm39) |
T91S |
possibly damaging |
Het |
| Tnik |
A |
T |
3: 28,593,690 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
T |
1: 159,685,974 (GRCm39) |
I402F |
probably benign |
Het |
| Unc93b1 |
A |
T |
19: 3,994,293 (GRCm39) |
S475C |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,539,205 (GRCm39) |
E1937D |
probably benign |
Het |
| Vmn1r227 |
A |
T |
17: 20,955,927 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,229 (GRCm39) |
V742I |
probably benign |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,635 (GRCm39) |
L3P |
possibly damaging |
Het |
| Zfp882 |
T |
G |
8: 72,668,233 (GRCm39) |
H353Q |
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 |
|
|
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'- GGGCAAAGCAGACACTTGTG -3'
(R):5'- AGTCTGTATTCTGTACTTGATGCTC -3'
Sequencing Primer
(F):5'- CCTACAGGGGCAAAATTGGTTCTC -3'
(R):5'- ATTCTGTACTTGATGCTCTCTTTGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation