Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01068:Myo10'

52762

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo10

Ensembl Gene

ENSMUSG00000022272

Gene Name

myosin X

Synonyms

myosin-X, D15Ertd600e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01068

Quality Score

Status

Chromosome

Chromosomal Location

25622636-25813759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25739395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 527 (I527N)

Ref Sequence

ENSEMBL: ENSMUSP00000118280 (fasta)

Gene Model

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

AlphaFold

F8VQB6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110457
AA Change: I560N

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: I560N

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

possibly damaging
Transcript: ENSMUST00000137601
AA Change: I527N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118280
Gene: ENSMUSG00000022272
AA Change: I527N

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,153,599 (GRCm39)		probably benign	Het
Adgra1	A	G	7: 139,425,541 (GRCm39)	E18G	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Atg16l1	C	T	1: 87,702,546 (GRCm39)	S269L	probably damaging	Het
Atp8a1	A	G	5: 67,824,680 (GRCm39)	V853A	probably benign	Het
Bicral	T	C	17: 47,136,317 (GRCm39)	I298V	probably damaging	Het
Cad	A	G	5: 31,219,114 (GRCm39)		probably benign	Het
Chd9	A	T	8: 91,768,744 (GRCm39)	Y2448F	probably benign	Het
Clstn3	A	G	6: 124,439,098 (GRCm39)	L16S	probably damaging	Het
Cmtr2	G	A	8: 110,949,501 (GRCm39)	V604M	possibly damaging	Het
Ctcf	A	T	8: 106,408,117 (GRCm39)		probably benign	Het
Eif2ak2	A	G	17: 79,172,800 (GRCm39)	I295T	probably damaging	Het
Foxm1	G	A	6: 128,347,930 (GRCm39)	R284H	possibly damaging	Het
Gabra2	T	C	5: 71,119,415 (GRCm39)	I362M	probably benign	Het
Hivep1	C	A	13: 42,313,460 (GRCm39)	P1900Q	probably benign	Het
Klhl25	G	T	7: 75,515,897 (GRCm39)	E268*	probably null	Het
Klk1b16	T	C	7: 43,790,102 (GRCm39)	L124P	probably damaging	Het
Ltf	A	T	9: 110,864,880 (GRCm39)		probably null	Het
Mpped2	T	A	2: 106,695,091 (GRCm39)	H248Q	probably damaging	Het
Mrpl1	T	A	5: 96,371,895 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,978,428 (GRCm39)	S429R	probably damaging	Het
Myl2	G	A	5: 122,244,767 (GRCm39)	V146I	probably benign	Het
Ncoa3	T	C	2: 165,894,715 (GRCm39)	S333P	probably damaging	Het
Or1j4	T	G	2: 36,740,282 (GRCm39)	S75A	probably damaging	Het
Or4k47	T	G	2: 111,451,685 (GRCm39)	T245P	probably damaging	Het
Oxct1	T	C	15: 4,083,246 (GRCm39)	F155S	probably damaging	Het
P4ha1	T	C	10: 59,175,157 (GRCm39)	V39A	probably damaging	Het
Padi6	G	T	4: 140,458,264 (GRCm39)	T514N	possibly damaging	Het
Pgm2	G	A	5: 64,265,139 (GRCm39)	V387I	probably damaging	Het
Ppt1	G	A	4: 122,737,800 (GRCm39)	C46Y	probably damaging	Het
Rnf225	T	C	7: 12,662,827 (GRCm39)		probably benign	Het
Rpl26	T	C	11: 68,793,224 (GRCm39)	Y42H	probably benign	Het
Rundc1	A	G	11: 101,324,968 (GRCm39)	N558S	probably damaging	Het
Sema3e	T	G	5: 14,283,732 (GRCm39)		probably null	Het
Slc8a1	T	C	17: 81,696,371 (GRCm39)	I888V	probably benign	Het
Thsd7b	T	C	1: 129,523,883 (GRCm39)	C306R	probably damaging	Het
Tmem209	A	C	6: 30,502,085 (GRCm39)	L197R	probably benign	Het
Tmem38b	T	G	4: 53,849,024 (GRCm39)	V119G	probably damaging	Het
Trpc1	T	C	9: 95,608,547 (GRCm39)	D82G	probably damaging	Het
Zfp292	A	G	4: 34,806,763 (GRCm39)	F2094L	probably damaging	Het
Zfp638	C	T	6: 83,911,976 (GRCm39)	R453W	probably 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
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
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

Posted On

2013-06-21