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

068526-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112836742-113044228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113022609 bp (GRCm39)

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: 73,861,166 (GRCm39)	E145K	probably damaging	Het
Ambp	A	T	4: 63,068,656 (GRCm39)	Y120*	probably null	Het
Ankrd36	C	T	11: 5,579,312 (GRCm39)	A192V	probably benign	Het
Apol7e	A	T	15: 77,601,803 (GRCm39)	M134L	probably benign	Het
Atg9b	A	T	5: 24,591,107 (GRCm39)	N774K	probably benign	Het
Catsperb	T	A	12: 101,560,596 (GRCm39)	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 129,646,948 (GRCm39)	D648V	probably damaging	Het
Cfap54	G	T	10: 92,790,934 (GRCm39)	P1855T	unknown	Het
Clcnkb	T	A	4: 141,139,541 (GRCm39)	T154S	probably damaging	Het
Cux1	C	T	5: 136,279,454 (GRCm39)	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,252,667 (GRCm39)	D413G	possibly damaging	Het
Elp1	A	G	4: 56,771,453 (GRCm39)	L948P	probably damaging	Het
Flnc	T	C	6: 29,443,501 (GRCm39)		probably null	Het
Grm5	T	C	7: 87,765,498 (GRCm39)		probably null	Het
Hectd3	T	G	4: 116,853,778 (GRCm39)	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,082,976 (GRCm39)	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Larp4	C	A	15: 99,908,339 (GRCm39)	Q607K	probably benign	Het
Marchf8	A	G	6: 116,378,815 (GRCm39)	R250G	probably benign	Het
Med13	A	C	11: 86,161,923 (GRCm39)	N2135K	probably damaging	Het
Msh5	T	A	17: 35,264,909 (GRCm39)	R89*	probably null	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Npr1	A	T	3: 90,363,464 (GRCm39)		probably benign	Het
Nynrin	T	A	14: 56,107,899 (GRCm39)	V1002E	possibly damaging	Het
Or2l5	T	C	16: 19,333,804 (GRCm39)	Y194C	possibly damaging	Het
Or4c103	A	T	2: 88,513,449 (GRCm39)	F209Y	probably benign	Het
Or4f14c	T	A	2: 111,941,333 (GRCm39)	K88M	probably damaging	Het
Or5w15	A	T	2: 87,567,990 (GRCm39)	L226Q	probably damaging	Het
Pcare	G	T	17: 72,058,372 (GRCm39)	A435E	probably benign	Het
Pcdh9	T	C	14: 94,126,086 (GRCm39)	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Potefam1	T	C	2: 111,059,877 (GRCm39)		probably benign	Het
Potefam3e	T	A	8: 19,784,775 (GRCm39)	L203*	probably null	Het
Prkd1	T	A	12: 50,435,191 (GRCm39)	N512I	probably benign	Het
Pwwp2b	C	T	7: 138,836,326 (GRCm39)	P589L	probably damaging	Het
Rasgrp4	G	A	7: 28,842,452 (GRCm39)	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,467,973 (GRCm39)	V480G	probably damaging	Het
Rptn	A	G	3: 93,305,501 (GRCm39)	S945G	probably benign	Het
Slc22a2	C	T	17: 12,824,863 (GRCm39)	Q242*	probably null	Het
Slfn3	T	A	11: 83,103,825 (GRCm39)	V232E	probably benign	Het
Stab1	T	A	14: 30,879,365 (GRCm39)	K705M	probably damaging	Het
Syn2	C	A	6: 115,255,128 (GRCm39)	S480*	probably null	Het
Thsd4	A	T	9: 60,301,728 (GRCm39)	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,061,597 (GRCm39)	T250A	probably benign	Het
Tnc	A	T	4: 63,935,683 (GRCm39)	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,683,385 (GRCm39)	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,693,722 (GRCm39)		probably benign	Het
Xcl1	T	C	1: 164,759,419 (GRCm39)	M94V	probably benign	Het
Zfp369	T	C	13: 65,444,095 (GRCm39)	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,764,595 (GRCm39)	I279S	possibly damaging	Het
Zfp971	A	C	2: 177,675,730 (GRCm39)	Q443P	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
IGL01018:Myo18b	APN	5	112,957,613 (GRCm39)	missense	probably damaging	1.00
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
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

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