Incidental Mutation 'R2938:Myo10'
| ID |
256127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo10
|
| Ensembl Gene |
ENSMUSG00000022272 |
| Gene Name |
myosin X |
| Synonyms |
myosin-X, D15Ertd600e |
| MMRRC Submission |
040515-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2938 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
25622636-25813759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25795803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1315
(S1315T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022882]
[ENSMUST00000110457]
|
| AlphaFold |
F8VQB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022882
AA Change: S569T
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022882
Gene: ENSMUSG00000022272
AA Change: S569T
| 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: S1315T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: S1315T
| 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 |
|
| Meta Mutation Damage Score |
0.0753 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
T |
A |
2: 166,736,653 (GRCm39) |
I1775K |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,864,836 (GRCm39) |
M933K |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 65,910,550 (GRCm39) |
H427Q |
possibly damaging |
Het |
| Bace2 |
T |
C |
16: 97,213,388 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
A |
G |
2: 24,496,540 (GRCm39) |
V125A |
probably benign |
Het |
| Cbarp |
T |
C |
10: 79,967,603 (GRCm39) |
D539G |
probably damaging |
Het |
| Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,805,980 (GRCm39) |
L296* |
probably null |
Het |
| Cd40 |
G |
C |
2: 164,911,622 (GRCm39) |
V191L |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,801,586 (GRCm39) |
I217V |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdr1 |
T |
G |
X: 60,228,968 (GRCm39) |
D66A |
unknown |
Het |
| Cela3b |
A |
G |
4: 137,150,574 (GRCm39) |
I208T |
probably benign |
Het |
| Col1a2 |
A |
T |
6: 4,520,788 (GRCm39) |
Q375L |
possibly damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,995 (GRCm39) |
Q221L |
possibly damaging |
Het |
| Cstl1 |
T |
A |
2: 148,592,977 (GRCm39) |
I44N |
possibly damaging |
Het |
| Depdc5 |
G |
A |
5: 33,058,965 (GRCm39) |
|
probably null |
Het |
| Dthd1 |
A |
G |
5: 63,000,300 (GRCm39) |
I541V |
probably benign |
Het |
| Eml6 |
G |
A |
11: 29,783,049 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,222,900 (GRCm39) |
T1000S |
probably benign |
Het |
| Gimap8 |
A |
T |
6: 48,635,730 (GRCm39) |
R498S |
possibly damaging |
Het |
| Glis1 |
A |
G |
4: 107,489,488 (GRCm39) |
N692D |
possibly damaging |
Het |
| Gpr83 |
A |
G |
9: 14,776,167 (GRCm39) |
T163A |
probably benign |
Het |
| Hmgcr |
G |
A |
13: 96,799,576 (GRCm39) |
L173F |
probably damaging |
Het |
| Htr2b |
T |
A |
1: 86,030,177 (GRCm39) |
I173F |
possibly damaging |
Het |
| Ifna11 |
T |
C |
4: 88,738,530 (GRCm39) |
L112P |
probably damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,654 (GRCm39) |
K170E |
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,220,635 (GRCm39) |
M31L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,326,695 (GRCm39) |
N2815S |
probably damaging |
Het |
| Man1c1 |
A |
G |
4: 134,430,263 (GRCm39) |
I173T |
possibly damaging |
Het |
| Man2b2 |
A |
G |
5: 36,978,330 (GRCm39) |
I318T |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,752,033 (GRCm39) |
|
probably benign |
Het |
| Nsun5 |
C |
T |
5: 135,404,317 (GRCm39) |
Q375* |
probably null |
Het |
| Opcml |
A |
G |
9: 27,702,682 (GRCm39) |
M1V |
probably null |
Het |
| Or4d5 |
A |
T |
9: 40,012,039 (GRCm39) |
I249K |
probably benign |
Het |
| Or5m3 |
T |
C |
2: 85,838,357 (GRCm39) |
M79T |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,484 (GRCm39) |
F26Y |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,328 (GRCm39) |
I232T |
possibly damaging |
Het |
| Pdss1 |
T |
A |
2: 22,796,799 (GRCm39) |
|
probably null |
Het |
| Pfkfb2 |
G |
A |
1: 130,633,147 (GRCm39) |
T202I |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,277,731 (GRCm39) |
F242Y |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,280,625 (GRCm39) |
T437A |
probably benign |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rbm10 |
T |
C |
X: 20,513,934 (GRCm39) |
L429P |
possibly damaging |
Het |
| Saraf |
A |
G |
8: 34,635,735 (GRCm39) |
N346D |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,618 (GRCm39) |
D93G |
probably damaging |
Het |
| Sgcg |
A |
T |
14: 61,467,074 (GRCm39) |
F175L |
probably damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,282,789 (GRCm39) |
D449G |
probably benign |
Het |
| Slc9a3 |
T |
C |
13: 74,269,788 (GRCm39) |
I52T |
possibly damaging |
Het |
| Tcf7 |
A |
T |
11: 52,173,610 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
A |
G |
5: 65,083,251 (GRCm39) |
V442A |
probably damaging |
Het |
| Tmub1 |
A |
G |
5: 24,650,922 (GRCm39) |
*261Q |
probably null |
Het |
| Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,649,561 (GRCm39) |
D670G |
probably damaging |
Het |
| Vamp5 |
A |
G |
6: 72,346,323 (GRCm39) |
V91A |
probably benign |
Het |
| Vmn1r35 |
A |
T |
6: 66,655,950 (GRCm39) |
M73K |
possibly damaging |
Het |
| Vmn2r12 |
C |
T |
5: 109,239,397 (GRCm39) |
E389K |
probably damaging |
Het |
| Wdsub1 |
T |
C |
2: 59,703,630 (GRCm39) |
T112A |
possibly damaging |
Het |
| Xpo4 |
G |
T |
14: 57,841,897 (GRCm39) |
Q473K |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,909,130 (GRCm39) |
I797T |
probably damaging |
Het |
| Zfp808 |
G |
A |
13: 62,319,032 (GRCm39) |
V67M |
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 |
|
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 |
|
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'- CAACTTGCGTGTGAGAAACAGG -3'
(R):5'- TGTGAAATGTAGCAGAACTCATGTG -3'
Sequencing Primer
(F):5'- ACAGGCACATTGGCAGC -3'
(R):5'- CAGTCAGTGCTCATAACTGCTGAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation