Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02398:Myo18b'

291783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo18b

Ensembl Gene

ENSMUSG00000072720

Gene Name

myosin XVIIIb

Synonyms

4932408L24Rik, 4933411E19Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

112688876-112896362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112830312 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1248 (V1248E)

Ref Sequence

ENSEMBL: ENSMUSP00000083810 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086617
AA Change: V1248E

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: V1248E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183273

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
Adgre1	T	A	17: 57,402,824	C160*	probably null	Het
Alkbh8	C	T	9: 3,345,870	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,555,782	N761T	probably damaging	Het
Ankrd7	A	G	6: 18,866,697	Y72C	probably damaging	Het
Cfap36	T	G	11: 29,222,833	M231L	probably benign	Het
Cog7	A	G	7: 121,964,209	C227R	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cspg4	A	T	9: 56,886,686	E568D	probably benign	Het
Cwc27	G	A	13: 104,804,254	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,700,019	I330V	probably benign	Het
Dcaf7	T	C	11: 106,053,753	V254A	probably benign	Het
Dhrs7	G	A	12: 72,664,692	R24C	probably damaging	Het
Ehmt2	T	A	17: 34,908,479	C838S	probably damaging	Het
Fn1	A	T	1: 71,618,670		probably null	Het
Gjb3	T	A	4: 127,326,062	S226C	probably benign	Het
Gm14496	A	G	2: 181,996,170	I346V	probably benign	Het
Gm5926	A	G	X: 32,651,386	D224G	probably damaging	Het
Gm8050	T	C	14: 6,717,330	E172G	probably damaging	Het
Higd1a	G	A	9: 121,852,524	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,802,897	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,333,130	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,219,929	I161F	probably damaging	Het
Lrp8	G	T	4: 107,847,494	V304F	probably damaging	Het
Lrp8	C	A	4: 107,869,048	S850R	probably damaging	Het
Lrrc9	A	T	12: 72,466,903	M513L	probably benign	Het
Myo1b	A	T	1: 51,757,891	N945K	probably damaging	Het
Nipbl	A	G	15: 8,327,090	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,851,505	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,203,025	T53I	probably benign	Het
Olfr1054	A	T	2: 86,332,524	Y277*	probably null	Het
Olfr444	A	T	6: 42,956,112	I205F	probably benign	Het
Olfr584	G	A	7: 103,086,106	C191Y	probably damaging	Het
Parp8	A	G	13: 116,910,863		probably null	Het
Pde4dip	T	C	3: 97,766,781	Y273C	probably benign	Het
Pgbd5	C	T	8: 124,384,518	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,739,117		probably benign	Het
Piezo1	A	T	8: 122,486,563	S1819R	probably benign	Het
Polr1a	T	C	6: 71,936,556		probably benign	Het
Polr1b	A	G	2: 129,102,966	I61V	probably benign	Het
Prlhr	G	T	19: 60,467,315	A271E	probably damaging	Het
Rad23b	C	T	4: 55,350,360		probably benign	Het
Rad51ap1	A	T	6: 126,928,151	S132R	probably damaging	Het
Ros1	T	A	10: 52,144,884		probably benign	Het
Ryr3	T	C	2: 112,847,422	D1327G	probably benign	Het
Slit1	A	C	19: 41,602,237	V1332G	probably damaging	Het
Tmem178b	A	G	6: 40,207,527	M120V	probably damaging	Het
Trim25	T	C	11: 88,999,804	C106R	probably damaging	Het
Trim35	A	G	14: 66,309,248	Y488C	probably damaging	Het
Tsc2	A	T	17: 24,621,729	H326Q	probably damaging	Het
Yap1	A	T	9: 7,950,535	I315K	probably benign	Het
Zfp654	A	G	16: 64,786,018	V607A	probably benign	Het

Other mutations in Myo18b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Myo18b	APN	5	112874131	missense	probably benign	0.05
IGL00847:Myo18b	APN	5	112830389	splice site	probably benign
IGL00848:Myo18b	APN	5	112871485	missense	probably damaging	1.00
IGL00969:Myo18b	APN	5	112875007	unclassified	probably benign
IGL01018:Myo18b	APN	5	112809747	missense	probably damaging	1.00
IGL01448:Myo18b	APN	5	112811704	missense	probably damaging	1.00
IGL01490:Myo18b	APN	5	112809700	missense	possibly damaging	0.84
IGL01556:Myo18b	APN	5	112757449	splice site	probably benign
IGL01637:Myo18b	APN	5	112840629	missense	possibly damaging	0.82
IGL01819:Myo18b	APN	5	112878050	missense	unknown
IGL02007:Myo18b	APN	5	112874972	unclassified	probably benign
IGL02146:Myo18b	APN	5	112843285	missense	probably damaging	1.00
IGL02229:Myo18b	APN	5	112878110	missense	unknown
IGL02319:Myo18b	APN	5	112791139	missense	probably damaging	0.99
IGL02420:Myo18b	APN	5	112827986	missense	possibly damaging	0.64
IGL02626:Myo18b	APN	5	112878085	missense	unknown
IGL02815:Myo18b	APN	5	112809735	missense	probably damaging	1.00
IGL02822:Myo18b	APN	5	112775345	missense	probably damaging	1.00
IGL02852:Myo18b	APN	5	112715511	missense	probably benign	0.03
IGL02995:Myo18b	APN	5	112775413	splice site	probably benign
IGL03019:Myo18b	APN	5	112692397	missense	probably benign	0.21
IGL03039:Myo18b	APN	5	112840771	missense	probably damaging	1.00
IGL03112:Myo18b	APN	5	112873990	missense	probably benign	0.02
IGL03123:Myo18b	APN	5	112874938	unclassified	probably benign
IGL03288:Myo18b	APN	5	112789997	missense	probably damaging	1.00
IGL03391:Myo18b	APN	5	112874479	unclassified	probably benign
PIT4651001:Myo18b	UTSW	5	112834435	missense	probably benign	0.01
R0271:Myo18b	UTSW	5	112809685	missense	possibly damaging	0.91
R0277:Myo18b	UTSW	5	112693347	splice site	probably benign
R0352:Myo18b	UTSW	5	112874523	unclassified	probably benign
R0504:Myo18b	UTSW	5	112873576	unclassified	probably benign
R0539:Myo18b	UTSW	5	112723868	missense	probably damaging	0.99
R0599:Myo18b	UTSW	5	112865750	missense	probably damaging	1.00
R0627:Myo18b	UTSW	5	112798834	missense	probably benign	0.38
R0659:Myo18b	UTSW	5	112760327	missense	possibly damaging	0.66
R0671:Myo18b	UTSW	5	112692766	missense	probably benign	0.00
R0847:Myo18b	UTSW	5	112874488	unclassified	probably benign
R1082:Myo18b	UTSW	5	112760414	missense	probably damaging	1.00
R1116:Myo18b	UTSW	5	112803279	missense	probably damaging	1.00
R1264:Myo18b	UTSW	5	112830319	missense	probably benign	0.12
R1280:Myo18b	UTSW	5	112723805	critical splice donor site	probably null
R1444:Myo18b	UTSW	5	112775251	critical splice donor site	probably null
R1446:Myo18b	UTSW	5	112757559	missense	probably damaging	1.00
R1470:Myo18b	UTSW	5	112693033	missense	probably damaging	1.00
R1470:Myo18b	UTSW	5	112693033	missense	probably damaging	1.00
R1590:Myo18b	UTSW	5	112875266	nonsense	probably null
R1601:Myo18b	UTSW	5	112871498	missense	possibly damaging	0.73
R1903:Myo18b	UTSW	5	112692758	missense	probably damaging	1.00
R1935:Myo18b	UTSW	5	112760356	missense	probably benign	0.04
R1936:Myo18b	UTSW	5	112760356	missense	probably benign	0.04
R2008:Myo18b	UTSW	5	112873557	missense	probably benign
R2127:Myo18b	UTSW	5	112831078	missense	probably damaging	1.00
R2129:Myo18b	UTSW	5	112831078	missense	probably damaging	1.00
R2141:Myo18b	UTSW	5	112874026	missense	probably benign	0.01
R2170:Myo18b	UTSW	5	112723858	missense	probably benign	0.23
R2258:Myo18b	UTSW	5	112874663	unclassified	probably benign
R2265:Myo18b	UTSW	5	112782673	missense	probably damaging	1.00
R2483:Myo18b	UTSW	5	112858408	missense	probably damaging	1.00
R2931:Myo18b	UTSW	5	112693127	missense	probably benign	0.01
R3160:Myo18b	UTSW	5	112692728	missense	probably damaging	0.99
R3162:Myo18b	UTSW	5	112692728	missense	probably damaging	0.99
R3777:Myo18b	UTSW	5	112757596	missense	probably damaging	0.99
R4240:Myo18b	UTSW	5	112803187	critical splice donor site	probably null
R4243:Myo18b	UTSW	5	112692395	missense	possibly damaging	0.95
R4245:Myo18b	UTSW	5	112692395	missense	possibly damaging	0.95
R4533:Myo18b	UTSW	5	112693025	missense	probably damaging	1.00
R4631:Myo18b	UTSW	5	112846400	missense	probably damaging	1.00
R4661:Myo18b	UTSW	5	112875175	unclassified	probably benign
R4755:Myo18b	UTSW	5	112874474	nonsense	probably null
R4771:Myo18b	UTSW	5	112692227	nonsense	probably null
R4812:Myo18b	UTSW	5	112809718	missense	possibly damaging	0.95
R4840:Myo18b	UTSW	5	112874029	missense	probably benign	0.02
R4888:Myo18b	UTSW	5	112874480	unclassified	probably benign
R4995:Myo18b	UTSW	5	112760392	missense	probably damaging	0.99
R5001:Myo18b	UTSW	5	112761340	missense	probably damaging	0.99
R5015:Myo18b	UTSW	5	112790057	missense	probably damaging	1.00
R5055:Myo18b	UTSW	5	112875217	unclassified	probably benign
R5070:Myo18b	UTSW	5	112761346	missense	probably damaging	1.00
R5105:Myo18b	UTSW	5	112840778	missense	probably damaging	1.00
R5121:Myo18b	UTSW	5	112874480	unclassified	probably benign
R5130:Myo18b	UTSW	5	112873903	missense	probably benign	0.06
R5186:Myo18b	UTSW	5	112871470	missense	probably damaging	1.00
R5437:Myo18b	UTSW	5	112757573	missense	possibly damaging	0.73
R5535:Myo18b	UTSW	5	112790042	missense	probably damaging	1.00
R5560:Myo18b	UTSW	5	112868295	missense	probably damaging	0.96
R5810:Myo18b	UTSW	5	112834450	missense	probably damaging	1.00
R5898:Myo18b	UTSW	5	112802330	intron	probably null
R6065:Myo18b	UTSW	5	112692781	missense	probably benign	0.00
R6104:Myo18b	UTSW	5	112874291	unclassified	probably benign
R6113:Myo18b	UTSW	5	112866385	missense	probably damaging	1.00
R6158:Myo18b	UTSW	5	112874172	missense	probably benign	0.01
R6167:Myo18b	UTSW	5	112872507	splice site	probably null
R6220:Myo18b	UTSW	5	112757507	missense	possibly damaging	0.93
R6276:Myo18b	UTSW	5	112811642	missense	probably benign	0.31
R6290:Myo18b	UTSW	5	112865735	missense	possibly damaging	0.69
R6291:Myo18b	UTSW	5	112865735	missense	possibly damaging	0.69
R6795:Myo18b	UTSW	5	112846364	missense	probably damaging	0.99
R6798:Myo18b	UTSW	5	112761386	missense	probably damaging	0.98
R6817:Myo18b	UTSW	5	112830238	missense	probably benign	0.00
R6937:Myo18b	UTSW	5	112802392	missense	probably benign	0.12
R7034:Myo18b	UTSW	5	112723904	nonsense	probably null
R7097:Myo18b	UTSW	5	112874405	missense	unknown
R7145:Myo18b	UTSW	5	112817679	nonsense	probably null
R7201:Myo18b	UTSW	5	112715459	missense	probably damaging	1.00
R7260:Myo18b	UTSW	5	112775288	missense	probably benign	0.01
R7265:Myo18b	UTSW	5	112812072	missense	probably damaging	1.00
R7409:Myo18b	UTSW	5	112874105	missense	probably benign	0.25
R7466:Myo18b	UTSW	5	112723892	missense	probably benign	0.02
R7487:Myo18b	UTSW	5	112834433	missense	possibly damaging	0.93
R7571:Myo18b	UTSW	5	112830328	missense	probably damaging	1.00
R7600:Myo18b	UTSW	5	112878103	missense	unknown
R7612:Myo18b	UTSW	5	112865302	missense	possibly damaging	0.82
R7617:Myo18b	UTSW	5	112757453	critical splice donor site	probably null
R7696:Myo18b	UTSW	5	112692292	missense	probably damaging	1.00
R7710:Myo18b	UTSW	5	112875025	missense	unknown
Z1088:Myo18b	UTSW	5	112692943	missense	possibly damaging	0.89
Z1088:Myo18b	UTSW	5	112757484	missense	probably benign	0.25

Posted On

2015-04-16