Mutagenetix > Incidental Mutation

Incidental Mutation 'R7830:Myo10'

602395

Institutional Source

Beutler Lab

Gene Symbol

Myo10

Ensembl Gene

ENSMUSG00000022272

Gene Name

myosin X

Synonyms

D15Ertd600e, myosin-X

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7830 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25622525-25813673 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 25737971 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 501 (Y501*)

Ref Sequence

ENSEMBL: ENSMUSP00000118280 (fasta)

Gene Model

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

AlphaFold

F8VQB6

Predicted Effect

probably null
Transcript: ENSMUST00000110457
AA Change: Y534*

SMART Domains

Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: Y534*

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: 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 null
Transcript: ENSMUST00000137601
AA Change: Y501*

SMART Domains

Protein: ENSMUSP00000118280
Gene: ENSMUSG00000022272
AA Change: Y501*

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

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
3110002H16Rik	A	G	18: 12,168,871	N24S	probably benign	Het
4932438A13Rik	CCAGATTCATGTAGCA	CCA	3: 36,964,932		probably null	Het
Adat3	T	C	10: 80,606,820	L164P	probably damaging	Het
Aldh16a1	A	T	7: 45,146,225	L388Q	probably damaging	Het
Angpt1	T	C	15: 42,676,268	N65S	probably damaging	Het
Ankrd54	G	A	15: 79,054,050	T287I	probably damaging	Het
Cc2d2b	T	A	19: 40,765,357	V108E	possibly damaging	Het
Cntnap5c	A	T	17: 58,162,250	D609V	probably damaging	Het
Col6a4	G	T	9: 106,075,390	D436E	probably damaging	Het
Cul9	A	T	17: 46,540,311	D394E	probably benign	Het
Cyfip1	A	G	7: 55,873,462	E75G	probably damaging	Het
Efr3a	G	A	15: 65,829,830	V198I	probably benign	Het
Eif2ak2	C	T	17: 78,866,403	G249S	probably damaging	Het
Erich4	A	T	7: 25,615,724	M42K	probably benign	Het
Fig4	A	C	10: 41,256,466	V448G	probably benign	Het
Gas1	T	C	13: 60,176,034	D303G	probably damaging	Het
Gm609	A	T	16: 45,442,554	I187N	probably damaging	Het
Golgb1	T	G	16: 36,898,721	Y330D	possibly damaging	Het
Gpr146	C	T	5: 139,392,602	A53V	probably benign	Het
Klk1b27	A	C	7: 44,055,726	M106L	probably benign	Het
Lipc	T	C	9: 70,812,901	T190A	probably damaging	Het
Lrrc4b	A	G	7: 44,461,807	I368V	possibly damaging	Het
Mmp10	A	T	9: 7,507,283	Q368L	probably benign	Het
Neb	T	A	2: 52,165,189	H6445L	probably benign	Het
Numa1	T	A	7: 101,999,285	M741K	probably benign	Het
Nxn	T	A	11: 76,273,993	I231F	probably damaging	Het
Olfr1471	T	C	19: 13,445,621	L203S	probably benign	Het
Olfr341	A	G	2: 36,479,380	L250P	probably damaging	Het
Osbp2	A	G	11: 3,863,414	S152P	probably benign	Het
P3h4	T	C	11: 100,414,043	T173A	probably damaging	Het
Pcdh15	C	A	10: 74,385,901	R678S	probably damaging	Het
Pcdhb6	C	A	18: 37,336,312	T762K	probably benign	Het
Pnrc1	G	A	4: 33,248,057	P114L	probably damaging	Het
Ppp3ca	T	A	3: 136,868,720	S126R	probably damaging	Het
Prl3d2	C	T	13: 27,126,017	T155I	probably benign	Het
Prune2	C	A	19: 17,122,674	N1847K	probably benign	Het
Psg21	A	T	7: 18,647,298	V440E	probably damaging	Het
Rag1	A	G	2: 101,642,059	S913P	probably damaging	Het
Ros1	T	A	10: 52,154,934	H525L	probably damaging	Het
Scarb1	T	C	5: 125,287,383	Y94C	probably damaging	Het
Serpinb6a	T	G	13: 33,930,047	D120A	probably benign	Het
Sik3	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	9: 46,212,057		probably benign	Het
Slc39a14	T	C	14: 70,310,117	D299G	probably benign	Het
Sox1	G	A	8: 12,396,955	A199T	probably damaging	Het
Strc	T	A	2: 121,375,049	I867F	probably damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Usf3	C	T	16: 44,219,779	Q1541*	probably null	Het
Wrn	G	A	8: 33,269,054	L716F	probably damaging	Het
Zfp141	G	A	7: 42,475,188	T620I	probably benign	Het
Zfp354b	A	T	11: 50,923,309	I263K	probably benign	Het
Zfp804b	T	A	5: 6,771,124	E646D	probably benign	Het
Zfp970	G	T	2: 177,475,545	C304F	probably damaging	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
R7144:Myo10	UTSW	15	25723925	missense	probably damaging	1.00
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
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
R9606:Myo10	UTSW	15	25776315	frame shift	probably null
R9722:Myo10	UTSW	15	25801141	missense	probably damaging	1.00
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'- ACCGAACTGTTCAACCTATTGTC -3'
(R):5'- TGGAGTTACAGGTATACATCACCATG -3'

Sequencing Primer
(F):5'- CCTATTGTCATGAAAGAGTTGAGAGC -3'
(R):5'- CAGGTATACATCACCATGCCTGG -3'

Posted On

2019-12-03