Mutagenetix > Incidental Mutations

Incidental Mutation 'R7144:Myo10'

553671

Institutional Source

Beutler Lab

Gene Symbol

Myo10

Ensembl Gene

ENSMUSG00000022272

Gene Name

myosin X

Synonyms

D15Ertd600e, myosin-X

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25622525-25813673 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25723925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 215 (N215I)

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: N215I

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

SMART Domains

Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: N215I

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 damaging
Transcript: ENSMUST00000137601
AA Change: N182I

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

SMART Domains

Protein: ENSMUSP00000118280
Gene: ENSMUSG00000022272
AA Change: N182I

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (95/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,433,573	I272F	possibly damaging	Het
Adcy10	G	T	1: 165,510,370	M184I	probably benign	Het
Aldoa	G	T	7: 126,796,862	T124N	possibly damaging	Het
Ap4e1	T	A	2: 127,011,807	I55N	probably damaging	Het
Arhgap21	T	C	2: 20,865,387	T913A	probably benign	Het
Atrnl1	G	A	19: 58,042,352	E1309K	probably damaging	Het
BC034090	A	T	1: 155,242,031	C114S	probably damaging	Het
Brinp2	A	G	1: 158,295,424		probably null	Het
Ccna1	G	T	3: 55,045,699	H408Q	probably benign	Het
Cd209g	T	G	8: 4,135,189		probably benign	Het
Cdc20b	A	G	13: 113,083,371	I433V	probably benign	Het
Cdk2ap1	G	A	5: 124,354,358	P5L	probably damaging	Het
Cep128	T	C	12: 91,294,159	E310G	probably damaging	Het
Cflar	G	T	1: 58,753,848	V458F		Het
Clec4b2	A	G	6: 123,181,384	T70A	probably benign	Het
Cntnap5c	A	G	17: 58,286,888	T741A	probably benign	Het
Csf3r	A	T	4: 126,043,722	T800S	probably benign	Het
Csnk1g2	T	C	10: 80,637,899	Y67H	probably damaging	Het
Cyp2c67	A	T	19: 39,615,694	V406E	probably benign	Het
Dnah10	A	G	5: 124,822,942	D3868G	probably damaging	Het
Dnah7a	A	T	1: 53,698,708		probably null	Het
Dst	A	G	1: 34,152,243	N208S	probably damaging	Het
Echdc3	A	G	2: 6,206,413		probably null	Het
Edrf1	T	C	7: 133,637,849	S13P	probably benign	Het
Ephb1	T	C	9: 101,964,077	Y734C	probably damaging	Het
Eps8l1	A	G	7: 4,472,185	Y325C	probably damaging	Het
Evc2	A	G	5: 37,386,839	D644G	probably damaging	Het
Eya4	A	C	10: 23,173,045	D54E	probably benign	Het
Filip1	T	C	9: 79,820,213	S375G	possibly damaging	Het
Fmo9	A	G	1: 166,677,620	M68T	probably benign	Het
Gemin5	G	C	11: 58,141,663	P772A	probably benign	Het
Gle1	T	G	2: 29,943,793	C401G	probably damaging	Het
Gm14548	A	G	7: 3,897,616	V45A	probably damaging	Het
Gm7298	A	T	6: 121,761,587	I376F	probably damaging	Het
Gpr35	A	C	1: 92,982,631	I22L	probably benign	Het
Grin2b	T	G	6: 135,733,476	D1024A	possibly damaging	Het
Hmcn1	T	C	1: 150,663,873	N2956D	probably damaging	Het
Htt	T	C	5: 34,846,006	L1275P	probably damaging	Het
Ibtk	T	C	9: 85,743,691	D2G	probably benign	Het
Il16	T	A	7: 83,646,451	D1170V	probably damaging	Het
Iqgap3	T	A	3: 88,116,910	I1513N	probably damaging	Het
Kiz	T	G	2: 146,950,510		probably null	Het
Krt12	A	T	11: 99,416,013	*488K	probably null	Het
Lap3	A	T	5: 45,496,948	T83S	probably benign	Het
Lars2	T	A	9: 123,431,993	S410T	probably damaging	Het
Limch1	A	G	5: 67,017,658	T518A	probably benign	Het
Lrrc49	A	T	9: 60,615,156	S381T	probably damaging	Het
Lrrk2	A	G	15: 91,734,055	D919G	possibly damaging	Het
Mmp1a	A	T	9: 7,475,318	S363C	probably damaging	Het
Mrps22	A	C	9: 98,601,471		probably null	Het
Mybpc3	T	C	2: 91,134,604	I1066T	probably benign	Het
Myocd	A	C	11: 65,218,648	L99R	probably damaging	Het
Nadk	T	G	4: 155,589,336	I394S	probably damaging	Het
Nadsyn1	T	C	7: 143,811,215	N251S	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ncapd2	G	A	6: 125,176,670	P694L	probably benign	Het
Olfr1101	G	T	2: 86,988,820	R119S	probably damaging	Het
Olfr1243	T	C	2: 89,527,557	I284M	probably damaging	Het
Olfr317	A	C	11: 58,732,745	L140R	probably damaging	Het
Olfr705	T	A	7: 106,873,868	I126F	probably damaging	Het
Pcdhb13	T	A	18: 37,443,256	I229K	probably damaging	Het
Pgbd5	A	T	8: 124,374,317	M400K	possibly damaging	Het
Phactr3	A	G	2: 178,302,736	N409S	probably damaging	Het
Pik3c2g	C	A	6: 139,629,870	P305Q	probably damaging	Het
Pik3r4	G	A	9: 105,650,584	V379M	probably damaging	Het
Pkd1l2	A	T	8: 117,076,131	C250*	probably null	Het
Pramef17	A	C	4: 143,991,533	S447A	probably benign	Het
Rapgef6	A	C	11: 54,657,365	T792P	possibly damaging	Het
Rexo5	A	G	7: 119,805,191	D170G	probably damaging	Het
Rnf17	G	A	14: 56,512,332		probably null	Het
Sept11	A	G	5: 93,156,866	I181V	probably benign	Het
Serpina1e	T	G	12: 103,947,018	*414C	probably null	Het
Serpine1	C	A	5: 137,071,064	Q80H	probably damaging	Het
Sh3bp2	A	G	5: 34,561,631	N560S	probably benign	Het
Slc25a25	A	G	2: 32,419,166	F221S	probably damaging	Het
Spag17	G	T	3: 100,027,401		probably null	Het
Sspn	T	C	6: 145,961,155	L104P	probably damaging	Het
St18	A	C	1: 6,833,594	E693A	probably damaging	Het
St6galnac3	T	C	3: 153,411,532	I185V	possibly damaging	Het
St8sia1	T	C	6: 142,876,669	D156G	probably damaging	Het
Syne2	C	A	12: 76,005,378	S4092R	probably benign	Het
Tll1	T	A	8: 64,124,945	D76V	possibly damaging	Het
Tmco1	C	T	1: 167,308,453		probably benign	Het
Tnfaip3	T	A	10: 19,007,281	T179S	probably benign	Het
Trav16	T	C	14: 53,743,639	I95T	possibly damaging	Het
Trip12	A	T	1: 84,793,714	S280T	probably damaging	Het
Unc79	A	G	12: 103,142,626	M2166V	probably benign	Het
Vmn2r1	A	G	3: 64,089,941	I339M	probably damaging	Het
Vwa5b1	A	G	4: 138,605,431		probably null	Het
Washc4	A	T	10: 83,573,774		probably null	Het
Wisp1	T	A	15: 66,913,030	V184E	probably damaging	Het
Wiz	A	G	17: 32,357,628	S642P	possibly damaging	Het
Zeb2	T	A	2: 45,110,041	K60N	possibly damaging	Het
Zfat	T	A	15: 68,178,782	T797S	probably benign	Het
Zfp74	T	C	7: 29,935,165	K373E	probably damaging	Het
Zswim5	T	C	4: 116,975,976		probably null	Het

Other mutations in Myo10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Myo10	APN	15	25776380	missense	probably damaging	1.00
IGL01068:Myo10	APN	15	25739309	missense	possibly damaging	0.93
IGL01352:Myo10	APN	15	25701697	missense	probably damaging	1.00
IGL01388:Myo10	APN	15	25736617	missense	possibly damaging	0.55
IGL01460:Myo10	APN	15	25714108	missense	probably benign	0.00
IGL01553:Myo10	APN	15	25776329	missense	probably damaging	1.00
IGL01732:Myo10	APN	15	25732063	missense	probably benign	0.10
IGL01992:Myo10	APN	15	25799548	missense	possibly damaging	0.92
IGL02000:Myo10	APN	15	25808066	missense	probably damaging	1.00
IGL02045:Myo10	APN	15	25726488	missense	probably benign	0.03
IGL02307:Myo10	APN	15	25776315	splice site	probably benign
IGL02511:Myo10	APN	15	25723889	missense	probably damaging	0.97
IGL03240:Myo10	APN	15	25701602	missense	probably damaging	1.00
least	UTSW	15	25726475	nonsense	probably null
R0037:Myo10	UTSW	15	25666532	intron	probably benign
R0153:Myo10	UTSW	15	25781238	missense	possibly damaging	0.84
R0282:Myo10	UTSW	15	25793167	missense	probably damaging	1.00
R0360:Myo10	UTSW	15	25804368	missense	probably damaging	1.00
R0585:Myo10	UTSW	15	25736455	missense	probably damaging	1.00
R0617:Myo10	UTSW	15	25738005	missense	probably damaging	1.00
R0729:Myo10	UTSW	15	25722157	splice site	probably benign
R0771:Myo10	UTSW	15	25778178	missense	probably damaging	1.00
R0960:Myo10	UTSW	15	25801189	missense	probably damaging	1.00
R1562:Myo10	UTSW	15	25780411	missense	possibly damaging	0.81
R1651:Myo10	UTSW	15	25742369	missense	probably damaging	1.00
R1789:Myo10	UTSW	15	25726525	critical splice donor site	probably null
R1816:Myo10	UTSW	15	25800200	missense	probably damaging	1.00
R1835:Myo10	UTSW	15	25805587	missense	possibly damaging	0.53
R1908:Myo10	UTSW	15	25801222	missense	probably damaging	1.00
R2082:Myo10	UTSW	15	25785993	missense	probably damaging	1.00
R2101:Myo10	UTSW	15	25722259	missense	probably benign	0.26
R2129:Myo10	UTSW	15	25781799	missense	probably benign	0.09
R2141:Myo10	UTSW	15	25714108	missense	probably benign
R2142:Myo10	UTSW	15	25714108	missense	probably benign
R2920:Myo10	UTSW	15	25801140	missense	probably damaging	1.00
R2938:Myo10	UTSW	15	25795717	missense	probably damaging	0.99
R3723:Myo10	UTSW	15	25803288	missense	probably damaging	1.00
R3852:Myo10	UTSW	15	25779626	missense	probably damaging	1.00
R4162:Myo10	UTSW	15	25726415	splice site	probably null
R4163:Myo10	UTSW	15	25726415	splice site	probably null
R4164:Myo10	UTSW	15	25726415	splice site	probably null
R4177:Myo10	UTSW	15	25734051	missense	possibly damaging	0.81
R4409:Myo10	UTSW	15	25807869	missense	probably damaging	1.00
R4667:Myo10	UTSW	15	25793153	missense	possibly damaging	0.91
R4905:Myo10	UTSW	15	25800212	missense	probably damaging	0.99
R4933:Myo10	UTSW	15	25781118	missense	probably damaging	0.96
R4968:Myo10	UTSW	15	25808184	missense	probably damaging	1.00
R5081:Myo10	UTSW	15	25785940	missense	probably damaging	1.00
R5123:Myo10	UTSW	15	25726483	missense	possibly damaging	0.94
R5310:Myo10	UTSW	15	25778078	splice site	probably null
R6073:Myo10	UTSW	15	25736642	missense	probably damaging	1.00
R6117:Myo10	UTSW	15	25805659	missense	probably benign	0.00
R6185:Myo10	UTSW	15	25726510	missense	probably damaging	0.99
R6749:Myo10	UTSW	15	25714110	missense	probably damaging	1.00
R6819:Myo10	UTSW	15	25781410	missense	possibly damaging	0.80
R6875:Myo10	UTSW	15	25805659	missense	probably benign	0.00
R6908:Myo10	UTSW	15	25804383	missense	probably damaging	1.00
R6963:Myo10	UTSW	15	25734063	missense	probably benign	0.31
R7266:Myo10	UTSW	15	25782981	missense	probably damaging	1.00
R7380:Myo10	UTSW	15	25779620	missense	probably benign	0.01
R7460:Myo10	UTSW	15	25807827	missense	probably damaging	1.00
R7614:Myo10	UTSW	15	25701623	missense	probably benign	0.00
R7618:Myo10	UTSW	15	25726475	nonsense	probably null
R7717:Myo10	UTSW	15	25731970	missense	probably benign	0.01
R7811:Myo10	UTSW	15	25804524	missense	probably damaging	1.00
R7830:Myo10	UTSW	15	25737971	nonsense	probably null
R7862:Myo10	UTSW	15	25666436	missense	probably damaging	1.00
R8232:Myo10	UTSW	15	25804314	missense	possibly damaging	0.89
R8264:Myo10	UTSW	15	25800109	missense	probably damaging	0.99
R8377:Myo10	UTSW	15	25804395	missense	possibly damaging	0.94
R8385:Myo10	UTSW	15	25804398	missense	probably damaging	1.00
R8426:Myo10	UTSW	15	25799490	missense	probably damaging	0.99
R8439:Myo10	UTSW	15	25725072	missense	probably benign	0.00
R8696:Myo10	UTSW	15	25799486	missense	probably damaging	1.00
R8775:Myo10	UTSW	15	25800059	missense	probably damaging	0.97
R8775-TAIL:Myo10	UTSW	15	25800059	missense	probably damaging	0.97
R8970:Myo10	UTSW	15	25803381	missense	possibly damaging	0.82
R9024:Myo10	UTSW	15	25793209	missense	possibly damaging	0.53
R9196:Myo10	UTSW	15	25805630	missense	probably damaging	0.96
R9224:Myo10	UTSW	15	25807995	missense	probably benign	0.33
R9308:Myo10	UTSW	15	25781776	missense	probably damaging	0.99
R9358:Myo10	UTSW	15	25781434	missense	possibly damaging	0.69
RF013:Myo10	UTSW	15	25799479	missense	probably damaging	0.99
Z1177:Myo10	UTSW	15	25781401	missense	probably damaging	1.00
Z1177:Myo10	UTSW	15	25799554	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCAAGTGTTTAGAAAAGCCAAC -3'
(R):5'- ACTAACAGGCCAGATGCAATG -3'

Sequencing Primer
(F):5'- CAAGTGTTTAGAAAAGCCAACTCTTC -3'
(R):5'- ACAAGTATTTCACGTTCTTTTGGGC -3'

Posted On

2019-05-15