Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Myo18b'

661154

Institutional Source

Beutler Lab

Gene Symbol

Myo18b

Ensembl Gene

ENSMUSG00000072720

Gene Name

myosin XVIIIb

Synonyms

4932408L24Rik, 4933411E19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112688876-112896362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112874743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 261 (Q261R)

Ref Sequence

ENSEMBL: ENSMUSP00000083810 (fasta)

Gene Model

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

AlphaFold

E9PV66

Predicted Effect

unknown
Transcript: ENSMUST00000086617
AA Change: Q261R

SMART Domains

Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: Q261R

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

probably benign
Transcript: ENSMUST00000183273

Meta Mutation Damage Score

0.0738

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	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
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
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
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'- ACTTGCTTCTCCAACCCAAG -3'
(R):5'- CAGCCAAAGATTCTGGAGGGAC -3'

Sequencing Primer
(F):5'- GAAACCTCCCCACTTCCTTAG -3'
(R):5'- TGACCACGGGGACTTCCTC -3'

Posted On

2021-03-08