Mutagenetix > Incidental Mutation

Incidental Mutation 'R7618:Myo10'

589023

Institutional Source

Beutler Lab

Gene Symbol

Myo10

Ensembl Gene

ENSMUSG00000022272

Gene Name

myosin X

Synonyms

myosin-X, D15Ertd600e

MMRRC Submission

045685-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25622636-25813759 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 25726561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 294 (C294*)

Ref Sequence

ENSEMBL: ENSMUSP00000106087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110457] [ENSMUST00000137601]

AlphaFold

F8VQB6

Predicted Effect

probably null
Transcript: ENSMUST00000110457
AA Change: C294*

SMART Domains

Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: C294*

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 null
Transcript: ENSMUST00000137601
AA Change: C261*

SMART Domains

Protein: ENSMUSP00000118280
Gene: ENSMUSG00000022272
AA Change: C261*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,736,300 (GRCm39)	D1830G		Het
Alms1	A	G	6: 85,655,399 (GRCm39)	N2846S	probably benign	Het
Amt	A	C	9: 108,177,077 (GRCm39)	E228D	probably damaging	Het
Ankar	T	C	1: 72,714,925 (GRCm39)	M618V	probably benign	Het
Ankrd60	T	C	2: 173,412,834 (GRCm39)		probably null	Het
Aoc1	A	G	6: 48,883,320 (GRCm39)	T399A	possibly damaging	Het
Aqp11	T	A	7: 97,386,873 (GRCm39)	I108F	probably benign	Het
Arfgef3	G	T	10: 18,522,029 (GRCm39)	Q666K	probably damaging	Het
Bin2	T	A	15: 100,542,894 (GRCm39)	R430W	probably damaging	Het
Brme1	A	G	8: 84,893,499 (GRCm39)	Q222R	possibly damaging	Het
Cdh18	T	A	15: 23,367,056 (GRCm39)	V254D	probably damaging	Het
Cfap46	A	T	7: 139,183,155 (GRCm39)	S159R		Het
Clnk	A	T	5: 38,893,698 (GRCm39)	S220T	probably benign	Het
Col19a1	G	T	1: 24,361,165 (GRCm39)	H608Q	probably benign	Het
Cplx1	C	T	5: 108,673,395 (GRCm39)	E24K	possibly damaging	Het
Dnah3	A	T	7: 119,577,601 (GRCm39)	L2031Q	probably damaging	Het
Dok1	T	C	6: 83,009,872 (GRCm39)	E79G	probably benign	Het
Eif4g3	T	C	4: 137,898,429 (GRCm39)	S902P	probably damaging	Het
Emilin3	T	A	2: 160,751,199 (GRCm39)	E183D	probably benign	Het
Fam124b	G	A	1: 80,191,554 (GRCm39)		probably benign	Het
Gm9195	T	C	14: 72,690,275 (GRCm39)	Y1816C	probably damaging	Het
Ighv5-9-1	T	A	12: 113,699,819 (GRCm39)	I98F	probably damaging	Het
Il31ra	G	A	13: 112,688,514 (GRCm39)	P21L	possibly damaging	Het
Kat6a	A	G	8: 23,352,578 (GRCm39)	I121V	possibly damaging	Het
Kif11	T	C	19: 37,400,008 (GRCm39)	W832R	probably benign	Het
Klhl9	T	C	4: 88,638,772 (GRCm39)	T490A	possibly damaging	Het
Lars1	G	T	18: 42,377,956 (GRCm39)	A153E	probably benign	Het
Muc5b	A	T	7: 141,421,334 (GRCm39)	I4275L	probably benign	Het
Nceh1	T	A	3: 27,237,366 (GRCm39)		probably null	Het
Ncf1	T	A	5: 134,256,121 (GRCm39)	T93S	probably benign	Het
Nfatc2	G	A	2: 168,376,919 (GRCm39)	R545C	probably damaging	Het
Nos1	C	T	5: 118,042,009 (GRCm39)	P545S	probably benign	Het
Ogfod3	C	A	11: 121,093,804 (GRCm39)	V69F	probably damaging	Het
Or4a27	A	T	2: 88,559,180 (GRCm39)	Y254*	probably null	Het
Phf12	A	G	11: 77,916,960 (GRCm39)	N272S	unknown	Het
Prkcz	T	A	4: 155,346,939 (GRCm39)	I581F	probably damaging	Het
Rasgrf2	T	C	13: 92,136,085 (GRCm39)	H8R		Het
Rb1cc1	T	A	1: 6,335,782 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,248,411 (GRCm39)	M186K	possibly damaging	Het
Rnf111	C	A	9: 70,410,614 (GRCm39)		probably benign	Het
Sanbr	A	C	11: 23,534,550 (GRCm39)	C602W	possibly damaging	Het
Serinc3	A	T	2: 163,472,889 (GRCm39)	F247Y	possibly damaging	Het
Serpina1c	T	A	12: 103,865,029 (GRCm39)	I206F	probably damaging	Het
Slc25a10	G	A	11: 120,387,797 (GRCm39)		probably null	Het
Syne2	T	G	12: 75,992,108 (GRCm39)	H1993Q	probably benign	Het
Tap1	A	G	17: 34,407,212 (GRCm39)	Y120C	possibly damaging	Het
Tex30	A	T	1: 44,127,410 (GRCm39)		probably null	Het
Ube2ql1	G	T	13: 69,887,066 (GRCm39)	Q132K	probably benign	Het
Unc13d	T	C	11: 115,957,547 (GRCm39)	N803D	probably damaging	Het
Vcan	G	A	13: 89,840,342 (GRCm39)	S1734F	probably damaging	Het
Wdfy4	T	C	14: 32,707,696 (GRCm39)	Y2630C		Het
Wdr93	A	G	7: 79,435,474 (GRCm39)	T668A	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
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'- GGGTGTGTGCTCTAGTTATTAAAACC -3'
(R):5'- AGAAAGCAGGCTTCCCTCTG -3'

Sequencing Primer
(F):5'- CCAGAATAGAGTCTTCAGTGTACTC -3'
(R):5'- GCTTCCCTCTGACTTACAGGAAAAG -3'

Posted On

2019-10-24