Incidental Mutation 'R4968:Myo10'
ID |
384218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo10
|
Ensembl Gene |
ENSMUSG00000022272 |
Gene Name |
myosin X |
Synonyms |
myosin-X, D15Ertd600e |
MMRRC Submission |
042564-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4968 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
25622636-25813759 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25808270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1218
(V1218A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022882]
[ENSMUST00000110457]
|
AlphaFold |
F8VQB6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022882
AA Change: V1218A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022882 Gene: ENSMUSG00000022272 AA Change: V1218A
Domain | Start | End | E-Value | Type |
IQ
|
1 |
17 |
7.83e1 |
SMART |
IQ
|
18 |
40 |
1.06e0 |
SMART |
IQ
|
41 |
63 |
7.07e-2 |
SMART |
PDB:2LW9|B
|
136 |
171 |
7e-13 |
PDB |
low complexity region
|
172 |
186 |
N/A |
INTRINSIC |
low complexity region
|
213 |
235 |
N/A |
INTRINSIC |
low complexity region
|
344 |
356 |
N/A |
INTRINSIC |
low complexity region
|
401 |
419 |
N/A |
INTRINSIC |
PH
|
471 |
570 |
1.39e-21 |
SMART |
SCOP:d1faoa_
|
588 |
639 |
3e-6 |
SMART |
PH
|
651 |
757 |
6.76e-11 |
SMART |
MyTH4
|
805 |
953 |
4.12e-37 |
SMART |
B41
|
954 |
1216 |
1.72e-44 |
SMART |
Blast:B41
|
1218 |
1303 |
3e-45 |
BLAST |
low complexity region
|
1304 |
1316 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110457
AA Change: V1964A
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000106087 Gene: ENSMUSG00000022272 AA Change: V1964A
Domain | Start | End | E-Value | Type |
MYSc
|
57 |
740 |
N/A |
SMART |
IQ
|
741 |
763 |
1.27e-3 |
SMART |
IQ
|
764 |
786 |
1.06e0 |
SMART |
IQ
|
787 |
809 |
7.07e-2 |
SMART |
Pfam:MYO10_CC
|
881 |
932 |
4.2e-22 |
PFAM |
low complexity region
|
959 |
981 |
N/A |
INTRINSIC |
low complexity region
|
1090 |
1102 |
N/A |
INTRINSIC |
low complexity region
|
1147 |
1165 |
N/A |
INTRINSIC |
PH
|
1217 |
1316 |
1.39e-21 |
SMART |
PH
|
1397 |
1503 |
6.76e-11 |
SMART |
MyTH4
|
1551 |
1699 |
4.12e-37 |
SMART |
B41
|
1700 |
1962 |
1.72e-44 |
SMART |
low complexity region
|
2050 |
2062 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011] PHENOTYPE: Homozygous null mutations are semi-lethal with over half of homozygous embryos exhibiting exencephaly. Surviving mutants show decreased body weight, white spotting, syndactyly, persistence of hyaloid vascular system and other eye defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
A |
T |
11: 58,769,616 (GRCm39) |
K53* |
probably null |
Het |
4921513D11Rik |
T |
C |
17: 79,935,651 (GRCm39) |
S255P |
probably benign |
Het |
Ace |
A |
G |
11: 105,872,679 (GRCm39) |
N367S |
possibly damaging |
Het |
Agl |
A |
T |
3: 116,582,175 (GRCm39) |
N282K |
probably benign |
Het |
Ahnak |
C |
A |
19: 8,992,464 (GRCm39) |
P4583T |
probably damaging |
Het |
Alpi |
T |
C |
1: 87,029,247 (GRCm39) |
D4G |
probably benign |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Aplnr |
T |
C |
2: 84,967,289 (GRCm39) |
Y105H |
probably damaging |
Het |
Arhgap9 |
G |
A |
10: 127,162,875 (GRCm39) |
R395K |
possibly damaging |
Het |
Asah1 |
A |
G |
8: 41,807,067 (GRCm39) |
M119T |
|
Het |
Atp5f1b |
T |
C |
10: 127,919,856 (GRCm39) |
F75L |
probably damaging |
Het |
B4galt6 |
G |
T |
18: 20,861,026 (GRCm39) |
N75K |
possibly damaging |
Het |
Bco1 |
A |
T |
8: 117,857,833 (GRCm39) |
H486L |
probably benign |
Het |
Btaf1 |
T |
A |
19: 36,947,351 (GRCm39) |
L480Q |
probably null |
Het |
Ccdc34 |
G |
T |
2: 109,871,078 (GRCm39) |
|
probably null |
Het |
Cdh19 |
T |
C |
1: 110,852,958 (GRCm39) |
S326G |
probably benign |
Het |
Cep89 |
A |
G |
7: 35,109,055 (GRCm39) |
D178G |
possibly damaging |
Het |
Cyp11b2 |
A |
T |
15: 74,725,854 (GRCm39) |
|
probably null |
Het |
Cyp21a1 |
A |
G |
17: 35,022,383 (GRCm39) |
I157T |
possibly damaging |
Het |
Dcbld2 |
A |
G |
16: 58,245,074 (GRCm39) |
D116G |
probably damaging |
Het |
Ddx5 |
T |
C |
11: 106,674,953 (GRCm39) |
Q377R |
probably damaging |
Het |
Deup1 |
T |
C |
9: 15,503,724 (GRCm39) |
D279G |
probably damaging |
Het |
F11 |
G |
A |
8: 45,698,770 (GRCm39) |
A458V |
probably benign |
Het |
Fhad1 |
C |
A |
4: 141,645,618 (GRCm39) |
G326W |
probably damaging |
Het |
Fhit |
C |
T |
14: 10,421,522 (GRCm38) |
V26M |
probably damaging |
Het |
Gjb5 |
A |
T |
4: 127,250,015 (GRCm39) |
V43E |
probably damaging |
Het |
Grtp1 |
A |
T |
8: 13,242,184 (GRCm39) |
I75N |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,533,221 (GRCm39) |
I3022T |
possibly damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,881,962 (GRCm39) |
T166A |
probably benign |
Het |
Ift70b |
T |
C |
2: 75,768,391 (GRCm39) |
I121V |
probably benign |
Het |
Iho1 |
C |
T |
9: 108,289,713 (GRCm39) |
V170M |
probably benign |
Het |
Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
Kcnk10 |
T |
C |
12: 98,401,161 (GRCm39) |
I491V |
probably benign |
Het |
Kcp |
A |
T |
6: 29,497,628 (GRCm39) |
C519* |
probably null |
Het |
Lcmt2 |
T |
C |
2: 120,970,217 (GRCm39) |
T69A |
probably benign |
Het |
Lmf1 |
A |
G |
17: 25,804,592 (GRCm39) |
Y90C |
probably damaging |
Het |
Lpp |
A |
G |
16: 24,798,064 (GRCm39) |
D612G |
probably damaging |
Het |
Lrfn5 |
C |
A |
12: 61,886,461 (GRCm39) |
S83Y |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,592,719 (GRCm39) |
|
probably null |
Het |
Lrp1b |
C |
T |
2: 41,679,074 (GRCm39) |
C6Y |
probably damaging |
Het |
Lrrc8c |
A |
G |
5: 105,754,993 (GRCm39) |
D256G |
probably damaging |
Het |
Mphosph10 |
A |
G |
7: 64,032,656 (GRCm39) |
Y478H |
probably damaging |
Het |
Mpp2 |
T |
C |
11: 101,955,124 (GRCm39) |
H167R |
probably benign |
Het |
Mtss1 |
A |
G |
15: 58,815,767 (GRCm39) |
S598P |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,684,049 (GRCm39) |
E1154G |
probably damaging |
Het |
Myo19 |
A |
G |
11: 84,792,328 (GRCm39) |
K599R |
probably damaging |
Het |
Neurl4 |
T |
C |
11: 69,798,134 (GRCm39) |
M771T |
probably damaging |
Het |
Nlrc4 |
A |
G |
17: 74,753,936 (GRCm39) |
V149A |
probably benign |
Het |
Nup133 |
A |
T |
8: 124,641,935 (GRCm39) |
S843T |
probably benign |
Het |
Or2y1c |
T |
C |
11: 49,361,358 (GRCm39) |
C127R |
probably damaging |
Het |
Or51k1 |
T |
C |
7: 103,661,777 (GRCm39) |
N44S |
probably damaging |
Het |
P3h2 |
A |
G |
16: 25,811,412 (GRCm39) |
|
probably null |
Het |
Piezo2 |
A |
T |
18: 63,278,042 (GRCm39) |
Y287* |
probably null |
Het |
Prob1 |
T |
C |
18: 35,785,605 (GRCm39) |
Y883C |
probably damaging |
Het |
Pxdn |
T |
A |
12: 30,050,011 (GRCm39) |
H506Q |
probably benign |
Het |
Ripor3 |
T |
C |
2: 167,827,037 (GRCm39) |
D658G |
probably benign |
Het |
Rufy1 |
T |
A |
11: 50,301,434 (GRCm39) |
I333L |
probably benign |
Het |
Selenok |
T |
A |
14: 29,692,064 (GRCm39) |
V34E |
probably benign |
Het |
Selplg |
T |
C |
5: 113,957,787 (GRCm39) |
E173G |
possibly damaging |
Het |
Septin10 |
A |
G |
10: 59,016,943 (GRCm39) |
F194L |
probably damaging |
Het |
Sptbn2 |
A |
T |
19: 4,779,230 (GRCm39) |
|
probably null |
Het |
St6galnac6 |
C |
T |
2: 32,498,098 (GRCm39) |
P6S |
probably benign |
Het |
Syngr2 |
T |
C |
11: 117,704,296 (GRCm39) |
Y194H |
probably damaging |
Het |
Thbs4 |
A |
G |
13: 92,894,576 (GRCm39) |
I649T |
possibly damaging |
Het |
Triobp |
T |
A |
15: 78,850,816 (GRCm39) |
N323K |
probably benign |
Het |
Tuba8 |
T |
A |
6: 121,197,548 (GRCm39) |
L70Q |
probably damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,949,478 (GRCm39) |
T633A |
probably benign |
Het |
Zfp280b |
G |
T |
10: 75,875,188 (GRCm39) |
V356L |
probably damaging |
Het |
Zswim4 |
A |
T |
8: 84,944,001 (GRCm39) |
V746D |
probably benign |
Het |
|
Other mutations in Myo10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00557:Myo10
|
APN |
15 |
25,776,466 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01068:Myo10
|
APN |
15 |
25,739,395 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01352:Myo10
|
APN |
15 |
25,701,783 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01388:Myo10
|
APN |
15 |
25,736,703 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL01460:Myo10
|
APN |
15 |
25,714,194 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01553:Myo10
|
APN |
15 |
25,776,415 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01732:Myo10
|
APN |
15 |
25,732,149 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01992:Myo10
|
APN |
15 |
25,799,634 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02000:Myo10
|
APN |
15 |
25,808,152 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02045:Myo10
|
APN |
15 |
25,726,574 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02307:Myo10
|
APN |
15 |
25,776,401 (GRCm39) |
splice site |
probably benign |
|
IGL02511:Myo10
|
APN |
15 |
25,723,975 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03240:Myo10
|
APN |
15 |
25,701,688 (GRCm39) |
missense |
probably damaging |
1.00 |
least
|
UTSW |
15 |
25,726,561 (GRCm39) |
nonsense |
probably null |
|
R0037:Myo10
|
UTSW |
15 |
25,666,618 (GRCm39) |
intron |
probably benign |
|
R0153:Myo10
|
UTSW |
15 |
25,781,324 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0282:Myo10
|
UTSW |
15 |
25,793,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R0360:Myo10
|
UTSW |
15 |
25,804,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R0585:Myo10
|
UTSW |
15 |
25,736,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Myo10
|
UTSW |
15 |
25,738,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R0729:Myo10
|
UTSW |
15 |
25,722,243 (GRCm39) |
splice site |
probably benign |
|
R0771:Myo10
|
UTSW |
15 |
25,778,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R0960:Myo10
|
UTSW |
15 |
25,801,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R1562:Myo10
|
UTSW |
15 |
25,780,497 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1651:Myo10
|
UTSW |
15 |
25,742,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R1789:Myo10
|
UTSW |
15 |
25,726,611 (GRCm39) |
critical splice donor site |
probably null |
|
R1816:Myo10
|
UTSW |
15 |
25,800,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R1835:Myo10
|
UTSW |
15 |
25,805,673 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1908:Myo10
|
UTSW |
15 |
25,801,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R2082:Myo10
|
UTSW |
15 |
25,786,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R2101:Myo10
|
UTSW |
15 |
25,722,345 (GRCm39) |
missense |
probably benign |
0.26 |
R2129:Myo10
|
UTSW |
15 |
25,781,885 (GRCm39) |
missense |
probably benign |
0.09 |
R2141:Myo10
|
UTSW |
15 |
25,714,194 (GRCm39) |
missense |
probably benign |
|
R2142:Myo10
|
UTSW |
15 |
25,714,194 (GRCm39) |
missense |
probably benign |
|
R2920:Myo10
|
UTSW |
15 |
25,801,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R2938:Myo10
|
UTSW |
15 |
25,795,803 (GRCm39) |
missense |
probably damaging |
0.99 |
R3723:Myo10
|
UTSW |
15 |
25,803,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R3852:Myo10
|
UTSW |
15 |
25,779,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R4162:Myo10
|
UTSW |
15 |
25,726,501 (GRCm39) |
splice site |
probably null |
|
R4163:Myo10
|
UTSW |
15 |
25,726,501 (GRCm39) |
splice site |
probably null |
|
R4164:Myo10
|
UTSW |
15 |
25,726,501 (GRCm39) |
splice site |
probably null |
|
R4177:Myo10
|
UTSW |
15 |
25,734,137 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4409:Myo10
|
UTSW |
15 |
25,807,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Myo10
|
UTSW |
15 |
25,793,239 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4905:Myo10
|
UTSW |
15 |
25,800,298 (GRCm39) |
missense |
probably damaging |
0.99 |
R4933:Myo10
|
UTSW |
15 |
25,781,204 (GRCm39) |
missense |
probably damaging |
0.96 |
R5081:Myo10
|
UTSW |
15 |
25,786,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R5123:Myo10
|
UTSW |
15 |
25,726,569 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5310:Myo10
|
UTSW |
15 |
25,778,164 (GRCm39) |
splice site |
probably null |
|
R6073:Myo10
|
UTSW |
15 |
25,736,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R6117:Myo10
|
UTSW |
15 |
25,805,745 (GRCm39) |
missense |
probably benign |
0.00 |
R6185:Myo10
|
UTSW |
15 |
25,726,596 (GRCm39) |
missense |
probably damaging |
0.99 |
R6749:Myo10
|
UTSW |
15 |
25,714,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R6819:Myo10
|
UTSW |
15 |
25,781,496 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6875:Myo10
|
UTSW |
15 |
25,805,745 (GRCm39) |
missense |
probably benign |
0.00 |
R6908:Myo10
|
UTSW |
15 |
25,804,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R6963:Myo10
|
UTSW |
15 |
25,734,149 (GRCm39) |
missense |
probably benign |
0.31 |
R7144:Myo10
|
UTSW |
15 |
25,724,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R7266:Myo10
|
UTSW |
15 |
25,783,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R7380:Myo10
|
UTSW |
15 |
25,779,706 (GRCm39) |
missense |
probably benign |
0.01 |
R7460:Myo10
|
UTSW |
15 |
25,807,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R7614:Myo10
|
UTSW |
15 |
25,701,709 (GRCm39) |
missense |
probably benign |
0.00 |
R7618:Myo10
|
UTSW |
15 |
25,726,561 (GRCm39) |
nonsense |
probably null |
|
R7717:Myo10
|
UTSW |
15 |
25,732,056 (GRCm39) |
missense |
probably benign |
0.01 |
R7811:Myo10
|
UTSW |
15 |
25,804,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R7830:Myo10
|
UTSW |
15 |
25,738,057 (GRCm39) |
nonsense |
probably null |
|
R7862:Myo10
|
UTSW |
15 |
25,666,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R8232:Myo10
|
UTSW |
15 |
25,804,400 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8264:Myo10
|
UTSW |
15 |
25,800,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R8377:Myo10
|
UTSW |
15 |
25,804,481 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8385:Myo10
|
UTSW |
15 |
25,804,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R8426:Myo10
|
UTSW |
15 |
25,799,576 (GRCm39) |
missense |
probably damaging |
0.99 |
R8439:Myo10
|
UTSW |
15 |
25,725,158 (GRCm39) |
missense |
probably benign |
0.00 |
R8696:Myo10
|
UTSW |
15 |
25,799,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R8775:Myo10
|
UTSW |
15 |
25,800,145 (GRCm39) |
missense |
probably damaging |
0.97 |
R8775-TAIL:Myo10
|
UTSW |
15 |
25,800,145 (GRCm39) |
missense |
probably damaging |
0.97 |
R8970:Myo10
|
UTSW |
15 |
25,803,467 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9024:Myo10
|
UTSW |
15 |
25,793,295 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9196:Myo10
|
UTSW |
15 |
25,805,716 (GRCm39) |
missense |
probably damaging |
0.96 |
R9224:Myo10
|
UTSW |
15 |
25,808,081 (GRCm39) |
missense |
probably benign |
0.33 |
R9308:Myo10
|
UTSW |
15 |
25,781,862 (GRCm39) |
missense |
probably damaging |
0.99 |
R9358:Myo10
|
UTSW |
15 |
25,781,520 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9606:Myo10
|
UTSW |
15 |
25,776,401 (GRCm39) |
frame shift |
probably null |
|
R9722:Myo10
|
UTSW |
15 |
25,801,227 (GRCm39) |
missense |
probably damaging |
1.00 |
RF013:Myo10
|
UTSW |
15 |
25,799,565 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Myo10
|
UTSW |
15 |
25,799,640 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Myo10
|
UTSW |
15 |
25,781,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAGAGACGGACCAGCTTCC -3'
(R):5'- GTCATCCTACTGGCGACTCC -3'
Sequencing Primer
(F):5'- AGCTTCCTGGAGGGCAC -3'
(R):5'- AGGGCCGCAATATGGTTC -3'
|
Posted On |
2016-04-27 |