Mutagenetix > Incidental Mutation

Incidental Mutation 'R8482:Myo18b'

668192

Institutional Source

Beutler Lab

Gene Symbol

Myo18b

Ensembl Gene

ENSMUSG00000072720

Gene Name

myosin XVIIIb

Synonyms

4932408L24Rik, 4933411E19Rik

MMRRC Submission

067926-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112836742-113044228 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 113019489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 43 (E43*)

Gene Model

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

AlphaFold

E9PV66

Predicted Effect

probably benign
Transcript: ENSMUST00000086617

SMART Domains

Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720

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 null
Transcript: ENSMUST00000183273
AA Change: E43*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (49/49)

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
Acan	G	A	7: 78,746,492 (GRCm39)	V711I	probably benign	Het
Adprh	A	T	16: 38,267,871 (GRCm39)	M138K	probably damaging	Het
Ahctf1	A	G	1: 179,591,107 (GRCm39)		probably benign	Het
Atg9a	G	A	1: 75,162,870 (GRCm39)	T410M	probably damaging	Het
Atxn1	A	T	13: 45,721,426 (GRCm39)	S156R	possibly damaging	Het
Bptf	T	C	11: 106,934,524 (GRCm39)	T2850A	probably benign	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccdc97	T	C	7: 25,414,427 (GRCm39)	D109G	probably damaging	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Clec4a2	T	C	6: 123,100,630 (GRCm39)		probably null	Het
Col13a1	A	G	10: 61,720,477 (GRCm39)	I317T	probably damaging	Het
D630003M21Rik	G	T	2: 158,058,852 (GRCm39)	S349R	probably benign	Het
Eml5	C	A	12: 98,842,560 (GRCm39)	L179F	probably damaging	Het
Entrep1	T	A	19: 23,965,866 (GRCm39)	N211I	probably damaging	Het
Ets2	A	T	16: 95,516,019 (GRCm39)	M200L	probably benign	Het
Fat3	T	C	9: 16,158,263 (GRCm39)	T1116A	probably benign	Het
Fhit	A	G	14: 10,751,616 (GRCm38)	V24A	probably benign	Het
Gm6685	T	C	11: 28,289,195 (GRCm39)	N207S	probably benign	Het
Hdc	G	A	2: 126,436,125 (GRCm39)	T582M	probably benign	Het
Hmgxb4	G	A	8: 75,756,222 (GRCm39)	C575Y	probably damaging	Het
Kidins220	T	A	12: 25,090,527 (GRCm39)	S1164T	probably benign	Het
Ldb1	C	A	19: 46,024,709 (GRCm39)	D5Y	probably null	Het
Lpcat1	G	A	13: 73,659,044 (GRCm39)	R320H	probably benign	Het
Lrfn4	T	C	19: 4,664,333 (GRCm39)	D67G	probably damaging	Het
Myo15b	C	T	11: 115,774,083 (GRCm39)	Q550*	probably null	Het
Neurl1a	T	C	19: 47,241,719 (GRCm39)	C271R	probably damaging	Het
Nfasc	T	C	1: 132,532,827 (GRCm39)	S690G	probably damaging	Het
Ngly1	T	C	14: 16,310,377 (GRCm38)	S501P	probably benign	Het
Nlrp1a	A	T	11: 70,999,901 (GRCm39)		probably null	Het
Npw	A	G	17: 24,876,396 (GRCm39)	W172R	probably benign	Het
Nudt8	T	C	19: 4,050,849 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,219,352 (GRCm39)	Y458F	probably damaging	Het
Or10ag56	G	A	2: 87,139,726 (GRCm39)	V198I	probably benign	Het
Osbpl5	T	A	7: 143,258,731 (GRCm39)	T280S	probably benign	Het
Pex1	A	T	5: 3,662,923 (GRCm39)	I505F	probably benign	Het
Pfkm	A	G	15: 98,029,864 (GRCm39)	E756G	probably benign	Het
Pkd2l2	A	G	18: 34,558,166 (GRCm39)	I282V	possibly damaging	Het
Pnpla8	T	C	12: 44,330,410 (GRCm39)	S321P	probably benign	Het
Prxl2a	C	T	14: 40,719,723 (GRCm39)	E164K	probably benign	Het
Qdpr	G	T	5: 45,596,688 (GRCm39)	Q159K	probably benign	Het
Rac2	T	C	15: 78,450,206 (GRCm39)	M45V	probably benign	Het
Rnaset2b	G	A	17: 7,263,908 (GRCm39)		probably null	Het
Rpl38	T	A	11: 114,563,114 (GRCm39)	*71R	probably null	Het
Sacs	G	T	14: 61,440,404 (GRCm39)	V817L	probably benign	Het
Selenot	T	C	3: 58,495,889 (GRCm39)	F133S	probably damaging	Het
Sgcg	G	A	14: 61,477,856 (GRCm39)	L78F	probably damaging	Het
Slc19a1	A	G	10: 76,885,497 (GRCm39)	R466G	probably benign	Het
Tpr	A	G	1: 150,309,451 (GRCm39)	T1736A	probably damaging	Het
Zfhx3	A	G	8: 109,674,511 (GRCm39)	I1854V	probably benign	Het
Zfp652	T	C	11: 95,643,719 (GRCm39)	S306P	probably damaging	Het
Zfp998	C	T	13: 66,579,797 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTGCAGGGTGATCAGATCAG -3'
(R):5'- TACACTTGGGGTTTTACTTGACC -3'

Sequencing Primer
(F):5'- TGATCAGATCAGGCCCCGAG -3'
(R):5'- TCTTGGAGACAGCAGCCTCAC -3'

Posted On

2021-04-21