Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Myo18b'

489693

Institutional Source

Beutler Lab

Gene Symbol

Myo18b

Ensembl Gene

ENSMUSG00000072720

Gene Name

myosin XVIIIb

Synonyms

4932408L24Rik, 4933411E19Rik

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112688876-112896362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112874172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 451 (N451K)

Ref Sequence

ENSEMBL: ENSMUSP00000083810 (fasta)

Gene Model

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

AlphaFold

E9PV66

Predicted Effect

probably benign
Transcript: ENSMUST00000086617
AA Change: N451K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: N451K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
Aurka	A	C	2: 172,363,596		probably null	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Cacnb2	A	G	2: 14,985,601	D454G	possibly damaging	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Cpne8	A	C	15: 90,571,988	S191A	probably damaging	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,320,987	M272V	probably damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mettl27	C	T	5: 134,940,576	P170S	possibly damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo7b	T	C	18: 31,988,549	I768V	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr170	C	A	16: 19,605,925	V248F	probably damaging	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Slc39a2	G	A	14: 51,894,224		probably null	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Tpx2	C	A	2: 152,873,104	H82N	probably benign	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,125,562	T153A	probably benign	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	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
IGL02398:Myo18b	APN	5	112830312	missense	possibly damaging	0.92
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
klippel	UTSW	5	112757453	critical splice donor site	probably null
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	splice site	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
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
R8047:Myo18b	UTSW	5	112723815	missense	possibly damaging	0.91
R8070:Myo18b	UTSW	5	112791120	missense	probably benign	0.01
R8088:Myo18b	UTSW	5	112879510	start gained	probably benign
R8247:Myo18b	UTSW	5	112692196	missense	probably damaging	1.00
R8276:Myo18b	UTSW	5	112795407	missense	possibly damaging	0.50
R8313:Myo18b	UTSW	5	112875179	missense	unknown
R8375:Myo18b	UTSW	5	112760393	missense	possibly damaging	0.85
R8432:Myo18b	UTSW	5	112764512	missense	probably benign	0.00
R8475:Myo18b	UTSW	5	112873556	nonsense	probably null
R8482:Myo18b	UTSW	5	112871623	nonsense	probably null
R8671:Myo18b	UTSW	5	112874743	missense	unknown
R8681:Myo18b	UTSW	5	112873563	critical splice acceptor site	probably null
R8918:Myo18b	UTSW	5	112875007	unclassified	probably benign
R8941:Myo18b	UTSW	5	112874929	unclassified	probably benign
R8962:Myo18b	UTSW	5	112858480	missense	probably benign	0.24
R8972:Myo18b	UTSW	5	112693298	missense	probably benign	0.00
R9116:Myo18b	UTSW	5	112827996	missense	probably damaging	1.00
R9209:Myo18b	UTSW	5	112875061	missense	unknown
R9358:Myo18b	UTSW	5	112795403	missense	possibly damaging	0.93
R9469:Myo18b	UTSW	5	112846381	missense	probably benign	0.15
R9607:Myo18b	UTSW	5	112874678	missense	unknown
R9659:Myo18b	UTSW	5	112874516	missense	unknown
Z1088:Myo18b	UTSW	5	112692943	missense	possibly damaging	0.89
Z1088:Myo18b	UTSW	5	112757484	missense	probably benign	0.25
Z1176:Myo18b	UTSW	5	112762721	missense	not run
Z1176:Myo18b	UTSW	5	112809738	missense	possibly damaging	0.87
Z1176:Myo18b	UTSW	5	112831190	missense	probably damaging	1.00
Z1177:Myo18b	UTSW	5	112692899	missense	probably damaging	1.00
Z1177:Myo18b	UTSW	5	112762721	missense	not run
Z1177:Myo18b	UTSW	5	112873541	nonsense	probably null
Z1177:Myo18b	UTSW	5	112875152	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTACGTGACCTTCTGCCTGAG -3'
(R):5'- ACGGGACAGCTATCAGAGTC -3'

Sequencing Primer
(F):5'- GCCTGAGGCTTCACCACATC -3'
(R):5'- GACAGCTATCAGAGTCCACGG -3'

Posted On

2017-10-10