Mutagenetix > Incidental Mutation

Incidental Mutation 'R0960:Myo10'

81843

Institutional Source

Beutler Lab

Gene Symbol

Myo10

Ensembl Gene

ENSMUSG00000022272

Gene Name

myosin X

Synonyms

myosin-X, D15Ertd600e

MMRRC Submission

039089-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25622636-25813759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25801275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1488 (E1488G)

Ref Sequence

ENSEMBL: ENSMUSP00000106087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022882] [ENSMUST00000110457]

AlphaFold

F8VQB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022882
AA Change: E742G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022882
Gene: ENSMUSG00000022272
AA Change: E742G

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: E1488G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: E1488G

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

0.7293

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

98% (49/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,792 (GRCm39)	V256A	probably benign	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4930474N05Rik	C	A	14: 35,818,367 (GRCm39)	H122N	probably benign	Het
Aamp	T	C	1: 74,320,304 (GRCm39)	T341A	possibly damaging	Het
Adam26a	A	T	8: 44,021,800 (GRCm39)	H563Q	probably damaging	Het
Ankrd13a	G	A	5: 114,924,868 (GRCm39)	E118K	probably benign	Het
Asic5	A	G	3: 81,913,847 (GRCm39)	I174V	probably benign	Het
Atad2b	G	A	12: 5,056,593 (GRCm39)		probably benign	Het
Bub1b	A	G	2: 118,437,161 (GRCm39)	I120V	probably benign	Het
Casp8	T	C	1: 58,868,172 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,161,745 (GRCm39)	Y254H	probably benign	Het
Clasp1	T	C	1: 118,479,756 (GRCm39)	I996T	probably benign	Het
Cntn6	A	G	6: 104,751,441 (GRCm39)	I294V	probably benign	Het
Flnc	A	G	6: 29,441,511 (GRCm39)	D431G	probably damaging	Het
Gm4884	T	A	7: 40,692,232 (GRCm39)	M67K	possibly damaging	Het
Hmx3	T	C	7: 131,145,043 (GRCm39)	Y118H	probably benign	Het
Hsf2bp	C	T	17: 32,226,743 (GRCm39)	R204H	probably damaging	Het
Il12b	G	T	11: 44,299,315 (GRCm39)	C128F	probably damaging	Het
Ints6	T	C	14: 62,947,015 (GRCm39)	M317V	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kif27	T	C	13: 58,471,781 (GRCm39)	E769G	probably damaging	Het
Kif28	G	A	1: 179,523,370 (GRCm39)	Q987*	probably null	Het
Klhdc3	T	C	17: 46,987,444 (GRCm39)	H330R	possibly damaging	Het
Leo1	G	A	9: 75,352,522 (GRCm39)	E22K	probably benign	Het
Lpcat2	C	T	8: 93,596,338 (GRCm39)	T125M	probably benign	Het
Map1a	A	G	2: 121,132,124 (GRCm39)	Y742C	probably benign	Het
Mllt6	C	T	11: 97,555,772 (GRCm39)		probably benign	Het
Mpp2	A	G	11: 101,952,411 (GRCm39)	V354A	possibly damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Neb	A	G	2: 52,102,995 (GRCm39)	V4461A	probably benign	Het
Nudcd1	G	T	15: 44,291,047 (GRCm39)		probably benign	Het
Or10ag59	T	C	2: 87,406,279 (GRCm39)	Y284H	probably benign	Het
Or2w1b	A	C	13: 21,300,435 (GRCm39)	D191A	possibly damaging	Het
Pde1a	G	A	2: 79,695,378 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,471,303 (GRCm39)		probably benign	Het
Selenoo	T	G	15: 88,980,957 (GRCm39)	I432S	probably benign	Het
Sh3gl2	A	T	4: 85,295,717 (GRCm39)	I140F	probably damaging	Het
Svopl	G	T	6: 37,993,992 (GRCm39)	Y346*	probably null	Het
Tbc1d17	C	T	7: 44,497,852 (GRCm39)		probably benign	Het
Tlr3	A	C	8: 45,850,452 (GRCm39)	I815S	probably damaging	Het
Tmem25	T	A	9: 44,706,809 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,008,650 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,661,421 (GRCm39)		probably benign	Het
Txndc11	A	T	16: 10,909,453 (GRCm39)	D364E	probably benign	Het
Unc5cl	G	T	17: 48,766,624 (GRCm39)		probably benign	Het
Vmn1r13	A	G	6: 57,186,996 (GRCm39)	M52V	probably benign	Het
Zap70	T	C	1: 36,818,254 (GRCm39)	Y314H	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
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
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'- CCTAGATCAGGGCATTAGCTGCAC -3'
(R):5'- TGGCTGGCATCTGTAACAGCAAG -3'

Sequencing Primer
(F):5'- CCTTAGAGAGATGGACCTCCTTG -3'
(R):5'- GCATCTGTAACAGCAAGGGAAG -3'

Posted On

2013-11-08