Mutagenetix > Incidental Mutation

Incidental Mutation 'R8264:Myo10'

639748

Institutional Source

Beutler Lab

Gene Symbol

Myo10

Ensembl Gene

ENSMUSG00000022272

Gene Name

myosin X

Synonyms

myosin-X, D15Ertd600e

MMRRC Submission

067689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25622636-25813759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25800195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1424 (V1424M)

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: V678M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022882
Gene: ENSMUSG00000022272
AA Change: V678M

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: V1424M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: V1424M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,543 (GRCm39)	C911S	probably damaging	Het
Abcc4	T	A	14: 118,832,254 (GRCm39)	N792I	possibly damaging	Het
Acacb	A	T	5: 114,345,427 (GRCm39)	H960L	probably benign	Het
Aox1	A	G	1: 58,092,873 (GRCm39)	T162A	possibly damaging	Het
Cacna1g	T	C	11: 94,364,392 (GRCm39)	S18G	probably benign	Het
Chfr	T	A	5: 110,300,300 (GRCm39)	I348N	possibly damaging	Het
Cntln	G	A	4: 85,016,648 (GRCm39)	R12Q	probably damaging	Het
Cyp2c40	A	G	19: 39,795,971 (GRCm39)	S136P	possibly damaging	Het
Dnah14	T	A	1: 181,572,357 (GRCm39)	M2896K	probably damaging	Het
Elp6	A	G	9: 110,148,755 (GRCm39)	T215A	probably damaging	Het
Esyt2	A	C	12: 116,329,540 (GRCm39)	Q699H	probably benign	Het
Fbxo25	A	G	8: 13,979,393 (GRCm39)	T204A	possibly damaging	Het
Fhdc1	A	G	3: 84,362,339 (GRCm39)	S294P	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Galnt10	A	G	11: 57,673,032 (GRCm39)	I463V	probably benign	Het
Glce	A	G	9: 61,967,712 (GRCm39)	F480L	probably benign	Het
H2-Aa	A	G	17: 34,506,709 (GRCm39)	V11A	probably benign	Het
Hsd17b4	A	G	18: 50,279,593 (GRCm39)	T191A	possibly damaging	Het
Itpr3	G	T	17: 27,323,086 (GRCm39)		silent	Het
Izumo4	G	T	10: 80,538,572 (GRCm39)	G8V		Het
Klk1b5	T	A	7: 43,869,454 (GRCm39)	L178H	probably damaging	Het
Lama2	T	C	10: 27,343,218 (GRCm39)	N85D	probably benign	Het
Liph	A	C	16: 21,802,721 (GRCm39)	I116R	possibly damaging	Het
Lpar5	T	A	6: 125,058,465 (GRCm39)	V62D	probably damaging	Het
Map3k19	T	A	1: 127,751,528 (GRCm39)	I303F		Het
Mymk	A	G	2: 26,957,868 (GRCm39)		probably benign	Het
Myof	T	G	19: 37,909,881 (GRCm39)	Q1528P	probably damaging	Het
Ncapd3	T	C	9: 27,006,038 (GRCm39)		probably benign	Het
Nup214	T	A	2: 31,884,738 (GRCm39)	Y500N	possibly damaging	Het
Or5al6	T	C	2: 85,976,538 (GRCm39)	D180G	probably damaging	Het
Pappa2	T	C	1: 158,682,543 (GRCm39)	Y835C	probably damaging	Het
Pcdh18	T	C	3: 49,711,030 (GRCm39)	E95G	probably damaging	Het
Phf3	A	T	1: 30,870,138 (GRCm39)	N303K	possibly damaging	Het
Pnn	C	T	12: 59,119,363 (GRCm39)	H649Y	unknown	Het
Rab11fip1	G	A	8: 27,642,508 (GRCm39)	Q764*	probably null	Het
Ralgapa2	A	T	2: 146,175,370 (GRCm39)	M1762K	possibly damaging	Het
Rif1	G	A	2: 51,980,290 (GRCm39)	A496T	noncoding transcript	Het
Rnase13	A	T	14: 52,159,914 (GRCm39)	V75D	probably damaging	Het
Sema3c	G	A	5: 17,881,537 (GRCm39)		probably benign	Het
Sema4c	C	G	1: 36,591,966 (GRCm39)	G266R	probably damaging	Het
Slfn5	A	T	11: 82,847,376 (GRCm39)	D87V	probably damaging	Het
Smpd3	T	C	8: 106,991,290 (GRCm39)	Y421C	probably damaging	Het
Snrnp40	T	C	4: 130,271,867 (GRCm39)	V188A	probably benign	Het
Srms	A	G	2: 180,854,343 (GRCm39)	Y75H	probably benign	Het
Tent2	C	T	13: 93,312,077 (GRCm39)	G208S	probably damaging	Het
Tex15	T	C	8: 34,072,390 (GRCm39)	S2646P	probably benign	Het
Togaram1	A	G	12: 65,042,330 (GRCm39)	I1130V	probably benign	Het
Ttf1	A	G	2: 28,954,689 (GRCm39)	K18E	possibly damaging	Het
Unc5b	G	T	10: 60,604,113 (GRCm39)	T827K	probably benign	Het
Zfhx2	T	A	14: 55,302,969 (GRCm39)	T1672S	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
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
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'- TCCCGTAGCCTCAAGTTTGC -3'
(R):5'- TCTTTTCGAATGGAGGAAGCC -3'

Sequencing Primer
(F):5'- TAGCCTCAAGTTTGCCCTGGAAG -3'
(R):5'- TTATTCCCTCACCGGAGCAAG -3'

Posted On

2020-07-28