Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00847:Myo18b'

12744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo18b

Ensembl Gene

ENSMUSG00000072720

Gene Name

myosin XVIIIb

Synonyms

4932408L24Rik, 4933411E19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00847

Quality Score

Status

Chromosome

Chromosomal Location

112836742-113044228 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 112978255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,140,722 (GRCm39)	E142G	possibly damaging	Het
Arid4a	C	T	12: 71,122,492 (GRCm39)	P958S	probably damaging	Het
Cct5	T	C	15: 31,591,073 (GRCm39)		probably benign	Het
Cntnap4	C	T	8: 113,494,251 (GRCm39)		probably benign	Het
Col4a3	C	T	1: 82,695,590 (GRCm39)	L1597F	probably damaging	Het
Gla	C	A	X: 133,495,947 (GRCm39)	V179L	probably benign	Het
Gm20422	A	T	8: 70,195,642 (GRCm39)	C212*	probably null	Het
Hace1	T	A	10: 45,548,453 (GRCm39)	Y14*	probably null	Het
Hcfc2	T	A	10: 82,577,112 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,874,038 (GRCm39)	D2152G	possibly damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mcm8	T	G	2: 132,661,594 (GRCm39)	L74V	probably benign	Het
Ptprg	A	T	14: 12,215,265 (GRCm38)	N1084I	probably damaging	Het
Rad21l	C	A	2: 151,502,635 (GRCm39)	A192S	probably benign	Het
Scn2a	A	G	2: 65,501,078 (GRCm39)	D80G	probably damaging	Het
Serpinb3c	A	G	1: 107,203,990 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,786,118 (GRCm39)		probably benign	Het
Slc25a41	G	T	17: 57,341,957 (GRCm39)		probably null	Het
Snx14	C	A	9: 88,302,382 (GRCm39)	R140S	probably damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Tlcd1	T	A	11: 78,070,914 (GRCm39)	Y168N	probably damaging	Het
Vps13d	A	G	4: 144,811,978 (GRCm39)	I3312T	probably benign	Het
Zfp11	A	G	5: 129,734,978 (GRCm39)	V161A	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
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
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

Posted On

2012-12-06