Incidental Mutation 'R2101:Myo10'
| ID |
230528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo10
|
| Ensembl Gene |
ENSMUSG00000022272 |
| Gene Name |
myosin X |
| Synonyms |
myosin-X, D15Ertd600e |
| MMRRC Submission |
040105-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2101 (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 25722345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 186
(L186Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110457]
[ENSMUST00000137601]
|
| AlphaFold |
F8VQB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110457
AA Change: L186Q
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: L186Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000126076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130517
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137601
AA Change: L153Q
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118280
Gene: ENSMUSG00000022272
AA Change: L153Q
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
24 |
707 |
N/A |
SMART |
|
IQ
|
708 |
730 |
1.27e-3 |
SMART |
|
IQ
|
731 |
753 |
1.06e0 |
SMART |
|
IQ
|
754 |
776 |
7.07e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (67/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
G |
A |
2: 103,397,207 (GRCm39) |
A46T |
probably benign |
Het |
| Agap3 |
T |
A |
5: 24,692,797 (GRCm39) |
L47Q |
probably damaging |
Het |
| Apaf1 |
T |
G |
10: 90,895,942 (GRCm39) |
I377L |
probably benign |
Het |
| Astn2 |
G |
A |
4: 65,499,923 (GRCm39) |
R937* |
probably null |
Het |
| Cacnb1 |
A |
C |
11: 97,896,554 (GRCm39) |
V369G |
probably damaging |
Het |
| Cdc42bpa |
G |
T |
1: 179,974,533 (GRCm39) |
V1464L |
probably benign |
Het |
| Cdkn2aip |
A |
T |
8: 48,166,036 (GRCm39) |
M90K |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,239,877 (GRCm39) |
D1650E |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,783,699 (GRCm39) |
T639A |
probably damaging |
Het |
| Cluh |
G |
T |
11: 74,551,328 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Col11a2 |
A |
T |
17: 34,271,143 (GRCm39) |
D528V |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,133,270 (GRCm39) |
L810P |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,979,175 (GRCm39) |
V2084A |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,943,941 (GRCm39) |
H237Y |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,393,679 (GRCm39) |
F38L |
probably damaging |
Het |
| Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
| Dock5 |
G |
T |
14: 68,031,459 (GRCm39) |
F990L |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,393,331 (GRCm39) |
V146E |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,411,549 (GRCm39) |
T1776A |
probably benign |
Het |
| Enpep |
C |
T |
3: 129,092,587 (GRCm39) |
S532N |
probably benign |
Het |
| Gdf6 |
A |
G |
4: 9,860,025 (GRCm39) |
D369G |
probably damaging |
Het |
| Gtf2b |
T |
C |
3: 142,477,144 (GRCm39) |
|
probably benign |
Het |
| Hmbox1 |
A |
G |
14: 65,066,028 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
C |
A |
3: 20,066,947 (GRCm39) |
V540F |
possibly damaging |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,553 (GRCm39) |
I249F |
possibly damaging |
Het |
| Hunk |
T |
A |
16: 90,229,388 (GRCm39) |
|
probably null |
Het |
| Kidins220 |
T |
A |
12: 25,107,422 (GRCm39) |
L1625Q |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| N4bp2 |
T |
A |
5: 65,948,224 (GRCm39) |
W285R |
probably damaging |
Het |
| Nat8l |
T |
C |
5: 34,155,716 (GRCm39) |
L124P |
probably damaging |
Het |
| Nemp2 |
T |
C |
1: 52,680,225 (GRCm39) |
|
probably null |
Het |
| Nkain2 |
G |
A |
10: 32,205,813 (GRCm39) |
T74I |
possibly damaging |
Het |
| Nol4 |
A |
G |
18: 22,956,466 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4c118 |
T |
A |
2: 88,975,301 (GRCm39) |
E22V |
probably benign |
Het |
| Pcbp3 |
T |
C |
10: 76,625,589 (GRCm39) |
I152V |
possibly damaging |
Het |
| Pcp4l1 |
G |
T |
1: 171,003,174 (GRCm39) |
P10Q |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,235,730 (GRCm39) |
N135D |
probably damaging |
Het |
| Plb1 |
T |
A |
5: 32,507,004 (GRCm39) |
M1193K |
probably damaging |
Het |
| Prc1 |
T |
C |
7: 79,962,032 (GRCm39) |
V73A |
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,603,490 (GRCm39) |
W807R |
probably damaging |
Het |
| Prp2rt |
G |
T |
13: 97,235,730 (GRCm39) |
R6S |
probably damaging |
Het |
| Ptprb |
C |
T |
10: 116,150,943 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,559 (GRCm39) |
I993V |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,704,092 (GRCm39) |
V2046A |
probably benign |
Het |
| Rnpep |
G |
T |
1: 135,199,355 (GRCm39) |
N334K |
probably damaging |
Het |
| Sarm1 |
G |
A |
11: 78,366,115 (GRCm39) |
P695S |
probably damaging |
Het |
| Sf3a3 |
C |
T |
4: 124,612,136 (GRCm39) |
T131I |
possibly damaging |
Het |
| Slc38a10 |
A |
T |
11: 120,023,567 (GRCm39) |
V283E |
probably damaging |
Het |
| Slco6c1 |
A |
T |
1: 97,000,595 (GRCm39) |
L552* |
probably null |
Het |
| Tas2r136 |
T |
C |
6: 132,754,495 (GRCm39) |
M211V |
probably benign |
Het |
| Tax1bp3 |
G |
A |
11: 73,071,947 (GRCm39) |
D65N |
probably damaging |
Het |
| Tdrd5 |
A |
G |
1: 156,129,209 (GRCm39) |
F167S |
probably damaging |
Het |
| Tfeb |
G |
A |
17: 48,100,590 (GRCm39) |
V269M |
probably damaging |
Het |
| Tspan12 |
A |
T |
6: 21,799,887 (GRCm39) |
F153L |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,717,573 (GRCm39) |
L186V |
probably damaging |
Het |
| Upk1b |
A |
T |
16: 38,600,499 (GRCm39) |
C160* |
probably null |
Het |
| Uty |
T |
C |
Y: 1,176,541 (GRCm39) |
Q172R |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,437 (GRCm39) |
K114E |
possibly damaging |
Het |
| Vmn2r99 |
T |
G |
17: 19,598,253 (GRCm39) |
N92K |
probably damaging |
Het |
| Vstm2a |
T |
A |
11: 16,213,191 (GRCm39) |
M192K |
probably benign |
Het |
| Zc3h12c |
A |
G |
9: 52,027,721 (GRCm39) |
V547A |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,809 (GRCm39) |
N146I |
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 |
|
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 |
|
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'- GCAACAGGGATTTGTACCTCC -3'
(R):5'- TGAGATCCTAACAGGCAAGCC -3'
Sequencing Primer
(F):5'- TCAATGGTGACTTGTTTTAAGGAG -3'
(R):5'- CTAACAGGCAAGCCGGGAAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation