Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01018:Myo18b'

53584

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo18b

Ensembl Gene

ENSMUSG00000072720

Gene Name

myosin XVIIIb

Synonyms

4932408L24Rik, 4933411E19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01018

Quality Score

Status

Chromosome

Chromosomal Location

112836742-113044228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112957613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1450 (E1450G)

Ref Sequence

ENSEMBL: ENSMUSP00000083810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086617]

AlphaFold

E9PV66

Predicted Effect

probably damaging
Transcript: ENSMUST00000086617
AA Change: E1450G

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

SMART Domains

Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: E1450G

Domain	Start	End	E-Value	Type
low complexity region	20	28	N/A	INTRINSIC
low complexity region	43	59	N/A	INTRINSIC
low complexity region	86	100	N/A	INTRINSIC
low complexity region	185	200	N/A	INTRINSIC
low complexity region	273	290	N/A	INTRINSIC
low complexity region	291	304	N/A	INTRINSIC
low complexity region	355	372	N/A	INTRINSIC
low complexity region	377	419	N/A	INTRINSIC
MYSc	605	1374	8.78e-30	SMART
IQ	1375	1397	5.92e-4	SMART
Pfam:Myosin_tail_1	1423	1875	5e-12	PFAM
low complexity region	1965	1985	N/A	INTRINSIC
coiled coil region	2052	2126	N/A	INTRINSIC
low complexity region	2184	2199	N/A	INTRINSIC
low complexity region	2325	2336	N/A	INTRINSIC
low complexity region	2408	2424	N/A	INTRINSIC
low complexity region	2544	2558	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183029

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	G	T	6: 133,271,460 (GRCm39)	R168I	probably benign	Het
5530400C23Rik	A	T	6: 133,271,461 (GRCm39)	R168S	probably benign	Het
Armt1	T	A	10: 4,400,732 (GRCm39)	S160T	probably benign	Het
Armt1	C	T	10: 4,404,237 (GRCm39)		probably benign	Het
Ccdc170	T	C	10: 4,462,788 (GRCm39)	W35R	probably benign	Het
Ccdc170	T	C	10: 4,464,114 (GRCm39)	V31A	probably benign	Het
Ccdc170	G	T	10: 4,464,155 (GRCm39)	A99S	probably benign	Het
Glp2r	C	A	11: 67,600,470 (GRCm39)	V460F	probably benign	Het
Gm21411	C	T	4: 146,977,067 (GRCm39)	S69N	possibly damaging	Het
Gm21411	T	C	4: 146,977,034 (GRCm39)	Q80R	probably benign	Het
Gm21738	G	A	14: 19,418,856 (GRCm38)	P24L	probably benign	Het
H2-M10.6	C	T	17: 37,123,112 (GRCm39)	A15V	probably benign	Het
H60c	T	C	10: 3,209,766 (GRCm39)	M174V	probably benign	Het
H60c	A	C	10: 3,210,343 (GRCm39)	F69V	probably benign	Het
Ipcef1	G	A	10: 6,840,551 (GRCm39)	A382V	probably benign	Het
Ipcef1	C	T	10: 6,869,968 (GRCm39)	R144Q	probably damaging	Het
Mapk8ip3	T	G	17: 25,118,693 (GRCm39)		probably benign	Het
Mthfd1l	T	C	10: 3,928,708 (GRCm39)	V100A	probably benign	Het
Mthfd1l	T	C	10: 3,957,800 (GRCm39)	V279A	probably benign	Het
Mthfd1l	T	C	10: 3,982,345 (GRCm39)		probably benign	Het
Mtrf1l	A	G	10: 5,764,180 (GRCm39)		probably benign	Het
Obscn	C	T	11: 59,018,895 (GRCm39)	V973M	probably damaging	Het
Oprm1	T	C	10: 6,987,170 (GRCm39)		probably benign	Het
Or6p1	G	A	1: 174,258,908 (GRCm39)	V305I	probably benign	Het
Pou5f2	A	G	13: 78,174,057 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,252,113 (GRCm39)	H891Y	probably benign	Het
Ralgapa2	T	G	2: 146,252,112 (GRCm39)	H806P	probably benign	Het
Rmnd1	A	G	10: 4,377,392 (GRCm39)	W96R	probably benign	Het
Rmnd1	A	T	10: 4,377,290 (GRCm39)	S130T	probably benign	Het
Spata31e2	T	C	1: 26,721,991 (GRCm39)	E1063G	probably damaging	Het
Speer4a3	G	T	5: 26,155,721 (GRCm39)	H208N	probably benign	Het
Trappc12	A	C	12: 28,741,853 (GRCm39)		probably benign	Het
Ulbp3	G	A	10: 3,075,031 (GRCm39)		noncoding transcript	Het
Ulbp3	C	T	10: 3,075,193 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,070,231 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,070,209 (GRCm39)		noncoding transcript	Het
Vip	A	G	10: 5,592,480 (GRCm39)	D40G	probably benign	Het
Vmn2r125	T	C	4: 156,702,907 (GRCm39)		probably benign	Het
Vmn2r125	A	G	4: 156,703,140 (GRCm39)	N173D	probably damaging	Het
Vmn2r125	C	A	4: 156,703,194 (GRCm39)	Q191K	probably benign	Het
Vmn2r125	A	C	4: 156,703,195 (GRCm39)	Q191P	probably benign	Het
Vmn2r125	A	T	4: 156,703,332 (GRCm39)	T237S	probably benign	Het
Vmn2r125	T	A	4: 156,703,521 (GRCm39)	L300M	probably benign	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r129	C	A	4: 156,690,730 (GRCm39)		noncoding transcript	Het
Vmn2r129	A	T	4: 156,690,441 (GRCm39)		noncoding transcript	Het
Vmn2r129	G	A	4: 156,686,900 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,687,885 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,686,558 (GRCm39)		noncoding transcript	Het
Vmn2r40	G	A	7: 8,911,175 (GRCm39)	S706F	probably damaging	Het
Zfp14	T	A	7: 29,737,526 (GRCm39)	R486S	probably damaging	Het

Other mutations in Myo18b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Myo18b	APN	5	113,021,997 (GRCm39)	missense	probably benign	0.05
IGL00847:Myo18b	APN	5	112,978,255 (GRCm39)	splice site	probably benign
IGL00848:Myo18b	APN	5	113,019,351 (GRCm39)	missense	probably damaging	1.00
IGL00969:Myo18b	APN	5	113,022,873 (GRCm39)	unclassified	probably benign
IGL01448:Myo18b	APN	5	112,959,570 (GRCm39)	missense	probably damaging	1.00
IGL01490:Myo18b	APN	5	112,957,566 (GRCm39)	missense	possibly damaging	0.84
IGL01556:Myo18b	APN	5	112,905,315 (GRCm39)	splice site	probably benign
IGL01637:Myo18b	APN	5	112,988,495 (GRCm39)	missense	possibly damaging	0.82
IGL01819:Myo18b	APN	5	113,025,916 (GRCm39)	missense	unknown
IGL02007:Myo18b	APN	5	113,022,838 (GRCm39)	unclassified	probably benign
IGL02146:Myo18b	APN	5	112,991,151 (GRCm39)	missense	probably damaging	1.00
IGL02229:Myo18b	APN	5	113,025,976 (GRCm39)	missense	unknown
IGL02319:Myo18b	APN	5	112,939,005 (GRCm39)	missense	probably damaging	0.99
IGL02398:Myo18b	APN	5	112,978,178 (GRCm39)	missense	possibly damaging	0.92
IGL02420:Myo18b	APN	5	112,975,852 (GRCm39)	missense	possibly damaging	0.64
IGL02626:Myo18b	APN	5	113,025,951 (GRCm39)	missense	unknown
IGL02815:Myo18b	APN	5	112,957,601 (GRCm39)	missense	probably damaging	1.00
IGL02822:Myo18b	APN	5	112,923,211 (GRCm39)	missense	probably damaging	1.00
IGL02852:Myo18b	APN	5	112,863,377 (GRCm39)	missense	probably benign	0.03
IGL02995:Myo18b	APN	5	112,923,279 (GRCm39)	splice site	probably benign
IGL03019:Myo18b	APN	5	112,840,263 (GRCm39)	missense	probably benign	0.21
IGL03039:Myo18b	APN	5	112,988,637 (GRCm39)	missense	probably damaging	1.00
IGL03112:Myo18b	APN	5	113,021,856 (GRCm39)	missense	probably benign	0.02
IGL03123:Myo18b	APN	5	113,022,804 (GRCm39)	unclassified	probably benign
IGL03288:Myo18b	APN	5	112,937,863 (GRCm39)	missense	probably damaging	1.00
IGL03391:Myo18b	APN	5	113,022,345 (GRCm39)	unclassified	probably benign
klippel	UTSW	5	112,905,319 (GRCm39)	critical splice donor site	probably null
PIT4651001:Myo18b	UTSW	5	112,982,301 (GRCm39)	missense	probably benign	0.01
R0271:Myo18b	UTSW	5	112,957,551 (GRCm39)	missense	possibly damaging	0.91
R0277:Myo18b	UTSW	5	112,841,213 (GRCm39)	splice site	probably benign
R0352:Myo18b	UTSW	5	113,022,389 (GRCm39)	unclassified	probably benign
R0504:Myo18b	UTSW	5	113,021,442 (GRCm39)	unclassified	probably benign
R0539:Myo18b	UTSW	5	112,871,734 (GRCm39)	missense	probably damaging	0.99
R0599:Myo18b	UTSW	5	113,013,616 (GRCm39)	missense	probably damaging	1.00
R0627:Myo18b	UTSW	5	112,946,700 (GRCm39)	missense	probably benign	0.38
R0659:Myo18b	UTSW	5	112,908,193 (GRCm39)	missense	possibly damaging	0.66
R0671:Myo18b	UTSW	5	112,840,632 (GRCm39)	missense	probably benign	0.00
R0847:Myo18b	UTSW	5	113,022,354 (GRCm39)	unclassified	probably benign
R1082:Myo18b	UTSW	5	112,908,280 (GRCm39)	missense	probably damaging	1.00
R1116:Myo18b	UTSW	5	112,951,145 (GRCm39)	missense	probably damaging	1.00
R1264:Myo18b	UTSW	5	112,978,185 (GRCm39)	missense	probably benign	0.12
R1280:Myo18b	UTSW	5	112,871,671 (GRCm39)	critical splice donor site	probably null
R1444:Myo18b	UTSW	5	112,923,117 (GRCm39)	critical splice donor site	probably null
R1446:Myo18b	UTSW	5	112,905,425 (GRCm39)	missense	probably damaging	1.00
R1470:Myo18b	UTSW	5	112,840,899 (GRCm39)	missense	probably damaging	1.00
R1470:Myo18b	UTSW	5	112,840,899 (GRCm39)	missense	probably damaging	1.00
R1590:Myo18b	UTSW	5	113,023,132 (GRCm39)	nonsense	probably null
R1601:Myo18b	UTSW	5	113,019,364 (GRCm39)	missense	possibly damaging	0.73
R1903:Myo18b	UTSW	5	112,840,624 (GRCm39)	missense	probably damaging	1.00
R1935:Myo18b	UTSW	5	112,908,222 (GRCm39)	missense	probably benign	0.04
R1936:Myo18b	UTSW	5	112,908,222 (GRCm39)	missense	probably benign	0.04
R2008:Myo18b	UTSW	5	113,021,423 (GRCm39)	missense	probably benign
R2127:Myo18b	UTSW	5	112,978,944 (GRCm39)	missense	probably damaging	1.00
R2129:Myo18b	UTSW	5	112,978,944 (GRCm39)	missense	probably damaging	1.00
R2141:Myo18b	UTSW	5	113,021,892 (GRCm39)	missense	probably benign	0.01
R2170:Myo18b	UTSW	5	112,871,724 (GRCm39)	missense	probably benign	0.23
R2258:Myo18b	UTSW	5	113,022,529 (GRCm39)	unclassified	probably benign
R2265:Myo18b	UTSW	5	112,930,539 (GRCm39)	missense	probably damaging	1.00
R2483:Myo18b	UTSW	5	113,006,274 (GRCm39)	missense	probably damaging	1.00
R2931:Myo18b	UTSW	5	112,840,993 (GRCm39)	missense	probably benign	0.01
R3160:Myo18b	UTSW	5	112,840,594 (GRCm39)	missense	probably damaging	0.99
R3162:Myo18b	UTSW	5	112,840,594 (GRCm39)	missense	probably damaging	0.99
R3777:Myo18b	UTSW	5	112,905,462 (GRCm39)	missense	probably damaging	0.99
R4240:Myo18b	UTSW	5	112,951,053 (GRCm39)	critical splice donor site	probably null
R4243:Myo18b	UTSW	5	112,840,261 (GRCm39)	missense	possibly damaging	0.95
R4245:Myo18b	UTSW	5	112,840,261 (GRCm39)	missense	possibly damaging	0.95
R4533:Myo18b	UTSW	5	112,840,891 (GRCm39)	missense	probably damaging	1.00
R4631:Myo18b	UTSW	5	112,994,266 (GRCm39)	missense	probably damaging	1.00
R4661:Myo18b	UTSW	5	113,023,041 (GRCm39)	unclassified	probably benign
R4755:Myo18b	UTSW	5	113,022,340 (GRCm39)	nonsense	probably null
R4771:Myo18b	UTSW	5	112,840,093 (GRCm39)	nonsense	probably null
R4812:Myo18b	UTSW	5	112,957,584 (GRCm39)	missense	possibly damaging	0.95
R4840:Myo18b	UTSW	5	113,021,895 (GRCm39)	missense	probably benign	0.02
R4888:Myo18b	UTSW	5	113,022,346 (GRCm39)	unclassified	probably benign
R4995:Myo18b	UTSW	5	112,908,258 (GRCm39)	missense	probably damaging	0.99
R5001:Myo18b	UTSW	5	112,909,206 (GRCm39)	missense	probably damaging	0.99
R5015:Myo18b	UTSW	5	112,937,923 (GRCm39)	missense	probably damaging	1.00
R5055:Myo18b	UTSW	5	113,023,083 (GRCm39)	unclassified	probably benign
R5070:Myo18b	UTSW	5	112,909,212 (GRCm39)	missense	probably damaging	1.00
R5105:Myo18b	UTSW	5	112,988,644 (GRCm39)	missense	probably damaging	1.00
R5121:Myo18b	UTSW	5	113,022,346 (GRCm39)	unclassified	probably benign
R5130:Myo18b	UTSW	5	113,021,769 (GRCm39)	missense	probably benign	0.06
R5186:Myo18b	UTSW	5	113,019,336 (GRCm39)	missense	probably damaging	1.00
R5437:Myo18b	UTSW	5	112,905,439 (GRCm39)	missense	possibly damaging	0.73
R5535:Myo18b	UTSW	5	112,937,908 (GRCm39)	missense	probably damaging	1.00
R5560:Myo18b	UTSW	5	113,016,161 (GRCm39)	missense	probably damaging	0.96
R5810:Myo18b	UTSW	5	112,982,316 (GRCm39)	missense	probably damaging	1.00
R5898:Myo18b	UTSW	5	112,950,196 (GRCm39)	splice site	probably null
R6065:Myo18b	UTSW	5	112,840,647 (GRCm39)	missense	probably benign	0.00
R6104:Myo18b	UTSW	5	113,022,157 (GRCm39)	unclassified	probably benign
R6113:Myo18b	UTSW	5	113,014,251 (GRCm39)	missense	probably damaging	1.00
R6158:Myo18b	UTSW	5	113,022,038 (GRCm39)	missense	probably benign	0.01
R6167:Myo18b	UTSW	5	113,020,373 (GRCm39)	splice site	probably null
R6220:Myo18b	UTSW	5	112,905,373 (GRCm39)	missense	possibly damaging	0.93
R6276:Myo18b	UTSW	5	112,959,508 (GRCm39)	missense	probably benign	0.31
R6290:Myo18b	UTSW	5	113,013,601 (GRCm39)	missense	possibly damaging	0.69
R6291:Myo18b	UTSW	5	113,013,601 (GRCm39)	missense	possibly damaging	0.69
R6795:Myo18b	UTSW	5	112,994,230 (GRCm39)	missense	probably damaging	0.99
R6798:Myo18b	UTSW	5	112,909,252 (GRCm39)	missense	probably damaging	0.98
R6817:Myo18b	UTSW	5	112,978,104 (GRCm39)	missense	probably benign	0.00
R6937:Myo18b	UTSW	5	112,950,258 (GRCm39)	missense	probably benign	0.12
R7034:Myo18b	UTSW	5	112,871,770 (GRCm39)	nonsense	probably null
R7097:Myo18b	UTSW	5	113,022,271 (GRCm39)	missense	unknown
R7145:Myo18b	UTSW	5	112,965,545 (GRCm39)	nonsense	probably null
R7201:Myo18b	UTSW	5	112,863,325 (GRCm39)	missense	probably damaging	1.00
R7260:Myo18b	UTSW	5	112,923,154 (GRCm39)	missense	probably benign	0.01
R7265:Myo18b	UTSW	5	112,959,938 (GRCm39)	missense	probably damaging	1.00
R7409:Myo18b	UTSW	5	113,021,971 (GRCm39)	missense	probably benign	0.25
R7466:Myo18b	UTSW	5	112,871,758 (GRCm39)	missense	probably benign	0.02
R7487:Myo18b	UTSW	5	112,982,299 (GRCm39)	missense	possibly damaging	0.93
R7571:Myo18b	UTSW	5	112,978,194 (GRCm39)	missense	probably damaging	1.00
R7600:Myo18b	UTSW	5	113,025,969 (GRCm39)	missense	unknown
R7612:Myo18b	UTSW	5	113,013,168 (GRCm39)	missense	possibly damaging	0.82
R7617:Myo18b	UTSW	5	112,905,319 (GRCm39)	critical splice donor site	probably null
R7696:Myo18b	UTSW	5	112,840,158 (GRCm39)	missense	probably damaging	1.00
R7710:Myo18b	UTSW	5	113,022,891 (GRCm39)	missense	unknown
R8047:Myo18b	UTSW	5	112,871,681 (GRCm39)	missense	possibly damaging	0.91
R8070:Myo18b	UTSW	5	112,938,986 (GRCm39)	missense	probably benign	0.01
R8088:Myo18b	UTSW	5	113,027,376 (GRCm39)	start gained	probably benign
R8247:Myo18b	UTSW	5	112,840,062 (GRCm39)	missense	probably damaging	1.00
R8276:Myo18b	UTSW	5	112,943,273 (GRCm39)	missense	possibly damaging	0.50
R8313:Myo18b	UTSW	5	113,023,045 (GRCm39)	missense	unknown
R8375:Myo18b	UTSW	5	112,908,259 (GRCm39)	missense	possibly damaging	0.85
R8432:Myo18b	UTSW	5	112,912,378 (GRCm39)	missense	probably benign	0.00
R8475:Myo18b	UTSW	5	113,021,422 (GRCm39)	nonsense	probably null
R8482:Myo18b	UTSW	5	113,019,489 (GRCm39)	nonsense	probably null
R8671:Myo18b	UTSW	5	113,022,609 (GRCm39)	missense	unknown
R8681:Myo18b	UTSW	5	113,021,429 (GRCm39)	critical splice acceptor site	probably null
R8918:Myo18b	UTSW	5	113,022,873 (GRCm39)	unclassified	probably benign
R8941:Myo18b	UTSW	5	113,022,795 (GRCm39)	unclassified	probably benign
R8962:Myo18b	UTSW	5	113,006,346 (GRCm39)	missense	probably benign	0.24
R8972:Myo18b	UTSW	5	112,841,164 (GRCm39)	missense	probably benign	0.00
R9116:Myo18b	UTSW	5	112,975,862 (GRCm39)	missense	probably damaging	1.00
R9209:Myo18b	UTSW	5	113,022,927 (GRCm39)	missense	unknown
R9358:Myo18b	UTSW	5	112,943,269 (GRCm39)	missense	possibly damaging	0.93
R9469:Myo18b	UTSW	5	112,994,247 (GRCm39)	missense	probably benign	0.15
R9607:Myo18b	UTSW	5	113,022,544 (GRCm39)	missense	unknown
R9659:Myo18b	UTSW	5	113,022,382 (GRCm39)	missense	unknown
Z1088:Myo18b	UTSW	5	112,905,350 (GRCm39)	missense	probably benign	0.25
Z1088:Myo18b	UTSW	5	112,840,809 (GRCm39)	missense	possibly damaging	0.89
Z1176:Myo18b	UTSW	5	112,979,056 (GRCm39)	missense	probably damaging	1.00
Z1176:Myo18b	UTSW	5	112,957,604 (GRCm39)	missense	possibly damaging	0.87
Z1176:Myo18b	UTSW	5	112,910,587 (GRCm39)	missense	not run
Z1177:Myo18b	UTSW	5	113,021,407 (GRCm39)	nonsense	probably null
Z1177:Myo18b	UTSW	5	112,910,587 (GRCm39)	missense	not run
Z1177:Myo18b	UTSW	5	112,840,765 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo18b	UTSW	5	113,023,018 (GRCm39)	nonsense	probably null

Posted On

2013-06-28