Incidental Mutation 'R5081:Myo10'
ID |
387150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo10
|
Ensembl Gene |
ENSMUSG00000022272 |
Gene Name |
myosin X |
Synonyms |
myosin-X, D15Ertd600e |
MMRRC Submission |
042670-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5081 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
25622636-25813759 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25786026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 1236
(R1236G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106087
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022882]
[ENSMUST00000110457]
[ENSMUST00000125667]
|
AlphaFold |
F8VQB6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022882
AA Change: R490G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022882 Gene: ENSMUSG00000022272 AA Change: R490G
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 damaging
Transcript: ENSMUST00000110457
AA Change: R1236G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106087 Gene: ENSMUSG00000022272 AA Change: R1236G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125667
|
SMART Domains |
Protein: ENSMUSP00000120566 Gene: ENSMUSG00000022272
Domain | Start | End | E-Value | Type |
Pfam:Myosin_head
|
1 |
85 |
5.8e-22 |
PFAM |
IQ
|
99 |
121 |
1.27e-3 |
SMART |
IQ
|
122 |
144 |
1.06e0 |
SMART |
IQ
|
145 |
167 |
7.07e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135981
|
SMART Domains |
Protein: ENSMUSP00000123057 Gene: ENSMUSG00000022272
Domain | Start | End | E-Value | Type |
PDB:2DFS|M
|
2 |
38 |
6e-7 |
PDB |
Blast:MYSc
|
2 |
42 |
3e-19 |
BLAST |
IQ
|
59 |
81 |
1.27e-3 |
SMART |
IQ
|
82 |
104 |
1.06e0 |
SMART |
IQ
|
105 |
127 |
7.07e-2 |
SMART |
Pfam:MYO10_CC
|
199 |
242 |
1.7e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145587
|
Meta Mutation Damage Score |
0.8636 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
93% (65/70) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
AI593442 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
9: 52,589,114 (GRCm39) |
|
probably benign |
Het |
Aig1 |
A |
G |
10: 13,677,644 (GRCm39) |
I116T |
probably benign |
Het |
Alox12 |
A |
T |
11: 70,146,140 (GRCm39) |
|
probably null |
Het |
Ap3s1 |
T |
A |
18: 46,887,497 (GRCm39) |
D43E |
probably benign |
Het |
Arhgap35 |
A |
G |
7: 16,299,059 (GRCm39) |
M2T |
possibly damaging |
Het |
Asah2 |
T |
A |
19: 31,991,708 (GRCm39) |
E451V |
probably benign |
Het |
Ash1l |
T |
G |
3: 88,892,024 (GRCm39) |
I1301S |
probably damaging |
Het |
Ass1 |
G |
A |
2: 31,378,665 (GRCm39) |
|
probably null |
Het |
Ccpg1 |
A |
G |
9: 72,906,360 (GRCm39) |
T39A |
possibly damaging |
Het |
Cd101 |
T |
A |
3: 100,911,021 (GRCm39) |
Y879F |
possibly damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cdh23 |
T |
C |
10: 60,272,586 (GRCm39) |
T530A |
possibly damaging |
Het |
Cep68 |
G |
T |
11: 20,188,477 (GRCm39) |
Q643K |
probably damaging |
Het |
Ces1c |
A |
G |
8: 93,854,197 (GRCm39) |
S113P |
probably damaging |
Het |
Cnga4 |
T |
C |
7: 105,056,232 (GRCm39) |
I278T |
probably benign |
Het |
Col1a1 |
A |
G |
11: 94,842,402 (GRCm39) |
D1440G |
unknown |
Het |
Cspp1 |
A |
G |
1: 10,117,691 (GRCm39) |
I48V |
possibly damaging |
Het |
Ctsj |
T |
A |
13: 61,151,664 (GRCm39) |
S85C |
possibly damaging |
Het |
Cyp39a1 |
C |
A |
17: 44,057,488 (GRCm39) |
D442E |
probably damaging |
Het |
Dock3 |
A |
T |
9: 106,868,292 (GRCm39) |
F664Y |
probably damaging |
Het |
Gpcpd1 |
A |
T |
2: 132,389,622 (GRCm39) |
H244Q |
probably benign |
Het |
Gtf3a |
T |
A |
5: 146,888,092 (GRCm39) |
V131E |
probably benign |
Het |
Gtpbp3 |
A |
T |
8: 71,943,026 (GRCm39) |
R147W |
probably damaging |
Het |
H2-Oa |
A |
T |
17: 34,313,344 (GRCm39) |
I132F |
probably damaging |
Het |
Hsd17b8 |
G |
A |
17: 34,246,552 (GRCm39) |
|
probably benign |
Het |
Idi1 |
T |
A |
13: 8,937,963 (GRCm39) |
C91* |
probably null |
Het |
Itga11 |
A |
G |
9: 62,662,478 (GRCm39) |
I484V |
probably benign |
Het |
Kpna3 |
C |
T |
14: 61,628,694 (GRCm39) |
S101N |
probably damaging |
Het |
Larp4 |
G |
A |
15: 99,870,898 (GRCm39) |
|
probably benign |
Het |
Mink1 |
T |
C |
11: 70,495,970 (GRCm39) |
L390P |
probably damaging |
Het |
Morc1 |
T |
G |
16: 48,322,715 (GRCm39) |
S337R |
probably benign |
Het |
Nkx3-1 |
T |
C |
14: 69,429,396 (GRCm39) |
I138T |
possibly damaging |
Het |
Nnt |
T |
C |
13: 119,502,936 (GRCm39) |
N489S |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,617,136 (GRCm39) |
I711F |
probably benign |
Het |
Ntrk3 |
A |
G |
7: 78,227,522 (GRCm39) |
S4P |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,464,607 (GRCm39) |
T1605A |
possibly damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,655 (GRCm39) |
I214V |
possibly damaging |
Het |
Or7g32 |
A |
G |
9: 19,408,557 (GRCm39) |
E171G |
probably benign |
Het |
Pank1 |
T |
C |
19: 34,856,316 (GRCm39) |
H54R |
probably benign |
Het |
Pgm2l1 |
A |
G |
7: 99,917,472 (GRCm39) |
I530V |
probably benign |
Het |
Psmd2 |
A |
G |
16: 20,480,405 (GRCm39) |
T709A |
probably benign |
Het |
Qsox1 |
G |
T |
1: 155,688,581 (GRCm39) |
|
probably benign |
Het |
Rbm14 |
A |
G |
19: 4,852,823 (GRCm39) |
S520P |
probably benign |
Het |
Rbm15b |
G |
A |
9: 106,762,120 (GRCm39) |
R683C |
probably benign |
Het |
Rhbdd2 |
T |
A |
5: 135,664,876 (GRCm39) |
V69D |
probably damaging |
Het |
Sart1 |
T |
C |
19: 5,438,576 (GRCm39) |
E27G |
possibly damaging |
Het |
Scn4a |
G |
A |
11: 106,239,553 (GRCm39) |
P153L |
probably damaging |
Het |
Serpinb6d |
A |
T |
13: 33,855,230 (GRCm39) |
R301S |
probably benign |
Het |
Sf3a2 |
C |
A |
10: 80,640,275 (GRCm39) |
|
probably benign |
Het |
Syne1 |
T |
C |
10: 4,997,767 (GRCm39) |
D400G |
probably benign |
Het |
Tenm2 |
T |
C |
11: 35,915,460 (GRCm39) |
S2025G |
possibly damaging |
Het |
Ttc16 |
A |
T |
2: 32,657,988 (GRCm39) |
D476E |
probably damaging |
Het |
Ttc9c |
A |
T |
19: 8,793,396 (GRCm39) |
C81* |
probably null |
Het |
Ulk2 |
G |
A |
11: 61,694,488 (GRCm39) |
P474L |
probably damaging |
Het |
Vmn1r66 |
A |
G |
7: 10,008,722 (GRCm39) |
C104R |
probably damaging |
Het |
Vwa2 |
C |
T |
19: 56,897,752 (GRCm39) |
H686Y |
probably damaging |
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 |
R4968:Myo10
|
UTSW |
15 |
25,808,270 (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'- GCAAGGCTCAAAATGGCCTG -3'
(R):5'- ACTTGTCTGTACCATCAATGTGC -3'
Sequencing Primer
(F):5'- GGCTTGATTGACTCTGTAACCC -3'
(R):5'- TTGGCACGTATCAGCAAGTC -3'
|
Posted On |
2016-06-06 |