Mutagenetix > Incidental Mutation

Incidental Mutation 'R6819:Myo10'

537538

Institutional Source

Beutler Lab

Gene Symbol

Myo10

Ensembl Gene

ENSMUSG00000022272

Gene Name

myosin X

Synonyms

myosin-X, D15Ertd600e

MMRRC Submission

044931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6819 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25622636-25813759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25781496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 997 (V997A)

Ref Sequence

ENSEMBL: ENSMUSP00000106087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022882] [ENSMUST00000110457] [ENSMUST00000124966] [ENSMUST00000125667] [ENSMUST00000135173] [ENSMUST00000137601]

AlphaFold

F8VQB6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022882
AA Change: V251A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022882
Gene: ENSMUSG00000022272
AA Change: V251A

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

possibly damaging
Transcript: ENSMUST00000110457
AA Change: V997A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: V997A

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: ENSMUST00000124966

SMART Domains

Protein: ENSMUSP00000120817
Gene: ENSMUSG00000022272

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

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: ENSMUST00000135173

SMART Domains

Protein: ENSMUSP00000118744
Gene: ENSMUSG00000022272

Domain	Start	End	E-Value	Type
Pfam:Myosin_head	1	84	1.4e-21	PFAM
IQ	98	120	1.27e-3	SMART
IQ	121	143	1.06e0	SMART
IQ	144	166	7.07e-2	SMART
low complexity region	168	179	N/A	INTRINSIC

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	A	17: 24,506,767 (GRCm39)	V1196L	probably benign	Het
Adal	T	A	2: 120,978,794 (GRCm39)	I138N	probably damaging	Het
Arfgap1	T	C	2: 180,613,478 (GRCm39)		probably null	Het
Boc	T	C	16: 44,313,188 (GRCm39)	T559A	probably damaging	Het
Brip1	A	G	11: 86,001,267 (GRCm39)	V723A	possibly damaging	Het
Cnot10	A	C	9: 114,444,123 (GRCm39)	I424S	probably benign	Het
Cntnap4	T	G	8: 113,529,858 (GRCm39)	S689A	probably benign	Het
Cuzd1	A	T	7: 130,911,460 (GRCm39)	N506K	possibly damaging	Het
Dctn3	T	A	4: 41,715,259 (GRCm39)	T158S	possibly damaging	Het
Dnai2	A	G	11: 114,635,917 (GRCm39)	I301V	probably benign	Het
Ebpl	G	T	14: 61,578,695 (GRCm39)	P180Q	probably damaging	Het
Epha5	T	A	5: 84,254,649 (GRCm39)	Y489F	probably damaging	Het
Frmd8	T	C	19: 5,915,208 (GRCm39)	N232S	probably benign	Het
Fuca1	T	C	4: 135,660,267 (GRCm39)	Y262H	probably damaging	Het
Gfy	T	C	7: 44,826,975 (GRCm39)	I374V	possibly damaging	Het
Glg1	G	A	8: 111,914,513 (GRCm39)	R424C	probably damaging	Het
Ica1	G	T	6: 8,742,288 (GRCm39)	T115K	probably damaging	Het
Igf2bp2	T	C	16: 21,879,586 (GRCm39)	E511G	probably damaging	Het
Jag2	C	A	12: 112,874,161 (GRCm39)	R998L	probably damaging	Het
Kcnv1	G	T	15: 44,972,513 (GRCm39)	L457I	probably damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Ms4a8a	T	A	19: 11,053,743 (GRCm39)	H121L	probably damaging	Het
Muc5b	T	A	7: 141,412,600 (GRCm39)	S1849T	unknown	Het
Or10g3b	A	G	14: 52,587,156 (GRCm39)	Y116H	probably damaging	Het
Or10g9b	T	A	9: 39,917,844 (GRCm39)	M134L	probably benign	Het
Or8g54	T	A	9: 39,706,905 (GRCm39)	I78N	probably benign	Het
Pate2	T	A	9: 35,581,801 (GRCm39)	C32S	probably damaging	Het
Per1	G	T	11: 68,992,284 (GRCm39)	Q179H	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Rbp2	T	A	9: 98,391,614 (GRCm39)	V130E	probably damaging	Het
Rictor	T	A	15: 6,825,517 (GRCm39)		probably null	Het
Rundc3a	A	T	11: 102,289,287 (GRCm39)	R153*	probably null	Het
Scrn3	C	T	2: 73,149,826 (GRCm39)	A174V	probably damaging	Het
Serpina10	T	A	12: 103,594,619 (GRCm39)	Q200L	probably benign	Het
Slc25a51	A	T	4: 45,399,365 (GRCm39)	I275N	possibly damaging	Het
Spast	C	T	17: 74,674,281 (GRCm39)	H238Y	possibly damaging	Het
Speg	A	T	1: 75,368,456 (GRCm39)	I775F	possibly damaging	Het
Ssh1	G	T	5: 114,084,851 (GRCm39)	T463K	probably benign	Het
Tm2d3	A	G	7: 65,347,526 (GRCm39)	E151G	probably damaging	Het
Uggt2	A	G	14: 119,263,847 (GRCm39)	I1061T	probably damaging	Het
Unc79	T	G	12: 103,108,267 (GRCm39)	S1941A	probably benign	Het
Vcan	T	C	13: 89,853,244 (GRCm39)	D572G	probably benign	Het
Vmn2r16	T	G	5: 109,488,412 (GRCm39)	S428R	probably benign	Het
Zeb1	A	G	18: 5,591,917 (GRCm39)	D3G	probably damaging	Het
Zfp352	A	G	4: 90,112,936 (GRCm39)	T359A	probably benign	Het
Zfp987	C	A	4: 146,062,315 (GRCm39)	D582E	probably benign	Het
Zg16	G	A	7: 126,649,692 (GRCm39)	P90S	possibly 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
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
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'- AAATCGAGGATCTGCAGCGC -3'
(R):5'- AAGAAGCACCGTACTGTCG -3'

Sequencing Primer
(F):5'- TCTGCAGCGCATGAAGG -3'
(R):5'- TACTGTCGGCACTGGGG -3'

Posted On

2018-10-18