Incidental Mutation 'R7862:Myo10'
| ID |
607602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo10
|
| Ensembl Gene |
ENSMUSG00000022272 |
| Gene Name |
myosin X |
| Synonyms |
myosin-X, D15Ertd600e |
| MMRRC Submission |
045915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7862 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
25622636-25813759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25666522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 11
(V11A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110457]
[ENSMUST00000137601]
|
| AlphaFold |
F8VQB6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110457
AA Change: V11A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: V11A
| 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: ENSMUST00000137601
|
| SMART Domains |
Protein: ENSMUSP00000118280
Gene: ENSMUSG00000022272
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
A |
C |
3: 145,649,624 (GRCm39) |
*181S |
probably null |
Het |
| Abcc10 |
G |
T |
17: 46,626,458 (GRCm39) |
S661* |
probably null |
Het |
| Abtb2 |
C |
T |
2: 103,532,626 (GRCm39) |
R475W |
probably damaging |
Het |
| Cep97 |
T |
C |
16: 55,726,084 (GRCm39) |
D673G |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,684,983 (GRCm39) |
M144T |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,451,734 (GRCm39) |
D1372G |
probably damaging |
Het |
| Chmp6 |
G |
A |
11: 119,807,836 (GRCm39) |
|
probably null |
Het |
| Cst12 |
T |
C |
2: 148,631,495 (GRCm39) |
V72A |
probably damaging |
Het |
| D1Pas1 |
G |
A |
1: 186,700,349 (GRCm39) |
G93R |
probably damaging |
Het |
| Dhx34 |
C |
A |
7: 15,944,448 (GRCm39) |
V589F |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dmrta1 |
C |
A |
4: 89,576,561 (GRCm39) |
H6N |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,546,851 (GRCm39) |
L285P |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,386,730 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ehbp1l1 |
C |
T |
19: 5,770,851 (GRCm39) |
R230Q |
probably benign |
Het |
| Ep300 |
T |
G |
15: 81,534,954 (GRCm39) |
V2337G |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,442,400 (GRCm39) |
V150E |
probably damaging |
Het |
| Fkbp11 |
G |
A |
15: 98,624,389 (GRCm39) |
R122* |
probably null |
Het |
| Fkbp5 |
C |
T |
17: 28,631,013 (GRCm39) |
E251K |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,071,756 (GRCm39) |
K88E |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,685,529 (GRCm39) |
V300A |
possibly damaging |
Het |
| Glud1 |
T |
G |
14: 34,047,479 (GRCm39) |
L198V |
possibly damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,845 (GRCm39) |
W349R |
possibly damaging |
Het |
| Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
| Haus2 |
T |
A |
2: 120,443,570 (GRCm39) |
D75E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,682,172 (GRCm39) |
F459L |
probably damaging |
Het |
| Ighe |
A |
T |
12: 113,235,428 (GRCm39) |
V272E |
|
Het |
| Iqgap1 |
C |
T |
7: 80,393,636 (GRCm39) |
R647H |
probably benign |
Het |
| Jmy |
T |
C |
13: 93,635,703 (GRCm39) |
I38V |
possibly damaging |
Het |
| Kcnh1 |
G |
T |
1: 191,873,167 (GRCm39) |
|
probably benign |
Het |
| Kctd20 |
C |
T |
17: 29,181,849 (GRCm39) |
A167V |
probably damaging |
Het |
| Klhl38 |
A |
T |
15: 58,178,395 (GRCm39) |
V525E |
probably damaging |
Het |
| Krit1 |
A |
G |
5: 3,862,788 (GRCm39) |
D259G |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,052,036 (GRCm39) |
C443S |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,556,631 (GRCm39) |
V107A |
probably benign |
Het |
| Myl7 |
A |
G |
11: 5,847,157 (GRCm39) |
M132T |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,355,236 (GRCm39) |
I1642V |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,665,468 (GRCm39) |
T274A |
probably benign |
Het |
| Or6c214 |
T |
C |
10: 129,591,224 (GRCm39) |
T32A |
probably benign |
Het |
| Or7g25 |
C |
A |
9: 19,160,736 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
C |
T |
9: 38,584,624 (GRCm39) |
V39M |
probably benign |
Het |
| Pcdhb2 |
C |
T |
18: 37,429,113 (GRCm39) |
A362V |
probably benign |
Het |
| Pnp2 |
A |
T |
14: 51,201,016 (GRCm39) |
D167V |
possibly damaging |
Het |
| Rasa1 |
G |
A |
13: 85,403,530 (GRCm39) |
T282I |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,265,476 (GRCm39) |
D354G |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,605,893 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,389,648 (GRCm39) |
D415G |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,003,014 (GRCm39) |
I182V |
probably damaging |
Het |
| Slc6a13 |
A |
G |
6: 121,312,589 (GRCm39) |
Y441C |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,479,446 (GRCm39) |
E193* |
probably null |
Het |
| Spag9 |
T |
C |
11: 94,002,892 (GRCm39) |
I1134T |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,025,351 (GRCm39) |
|
probably null |
Het |
| Stk3 |
A |
G |
15: 35,115,732 (GRCm39) |
V29A |
possibly damaging |
Het |
| Tgfbr1 |
A |
T |
4: 47,403,489 (GRCm39) |
I365F |
probably damaging |
Het |
| Thpo |
C |
T |
16: 20,547,540 (GRCm39) |
V24I |
probably benign |
Het |
| Tle1 |
A |
C |
4: 72,117,552 (GRCm39) |
L36R |
probably damaging |
Het |
| Togaram2 |
T |
C |
17: 71,996,168 (GRCm39) |
V57A |
probably benign |
Het |
| Ttll9 |
C |
T |
2: 152,848,895 (GRCm39) |
A459V |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,848 (GRCm39) |
I330V |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,414,718 (GRCm39) |
M2906T |
|
Het |
| Vmn2r28 |
A |
T |
7: 5,493,613 (GRCm39) |
M111K |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,416 (GRCm39) |
C557R |
probably damaging |
Het |
| Zfp873 |
T |
A |
10: 81,896,109 (GRCm39) |
I280K |
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 |
|
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 |
|
|
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'- TGCTCGAGAAAGACATTTGCTTC -3'
(R):5'- ATATGAATGCCTGCGTGGGG -3'
Sequencing Primer
(F):5'- TGTCTGATGCTCACAGAAGC -3'
(R):5'- GGAACTGCAAGTGCCCATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation