Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01448:Myo18b'

84515

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 #

IGL01448

Quality Score

Status

Chromosome

Chromosomal Location

112688876-112896362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112811704 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1409 (I1409N)

Ref Sequence

ENSEMBL: ENSMUSP00000083810 (fasta)

Gene Model

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

AlphaFold

E9PV66

Predicted Effect

probably damaging
Transcript: ENSMUST00000086617
AA Change: I1409N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: I1409N

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	T	2: 130,405,847 (GRCm38)	E75D	possibly damaging	Het
1700084J12Rik	A	G	15: 33,405,633 (GRCm38)		probably benign	Het
2610303G11Rik	T	A	9: 98,186,709 (GRCm38)		noncoding transcript	Het
4931414P19Rik	T	C	14: 54,585,960 (GRCm38)	D320G	possibly damaging	Het
Adamts6	G	A	13: 104,297,164 (GRCm38)	E34K	probably damaging	Het
Alms1	T	A	6: 85,677,899 (GRCm38)	N3142K	possibly damaging	Het
Anapc7	G	A	5: 122,428,213 (GRCm38)	A62T	probably damaging	Het
Atp8b3	G	A	10: 80,520,422 (GRCm38)	P1152L	probably benign	Het
Cc2d2a	C	T	5: 43,684,185 (GRCm38)	T181I	possibly damaging	Het
Celsr2	A	G	3: 108,393,239 (GRCm38)	L2835P	probably damaging	Het
Ctns	A	T	11: 73,188,722 (GRCm38)	V99D	possibly damaging	Het
Dchs1	T	C	7: 105,771,927 (GRCm38)	R429G	probably damaging	Het
Ddx11	T	C	17: 66,134,137 (GRCm38)	V218A	probably damaging	Het
Eftud2	G	A	11: 102,865,563 (GRCm38)		probably benign	Het
Erich1	G	T	8: 14,078,853 (GRCm38)	T29N	possibly damaging	Het
Exosc8	T	C	3: 54,729,265 (GRCm38)	E215G	probably damaging	Het
Fam184a	G	T	10: 53,698,949 (GRCm38)	A188E	probably benign	Het
Fign	A	G	2: 63,979,688 (GRCm38)	S413P	probably damaging	Het
Fkbp6	A	G	5: 135,349,696 (GRCm38)	S33P	probably damaging	Het
Glb1	A	G	9: 114,450,677 (GRCm38)		probably benign	Het
H2-Q1	T	C	17: 35,323,461 (GRCm38)		probably benign	Het
Helz2	T	C	2: 181,233,977 (GRCm38)	T1575A	probably damaging	Het
Il18r1	A	G	1: 40,474,730 (GRCm38)	E32G	probably damaging	Het
Ints5	C	T	19: 8,895,487 (GRCm38)	P270L	possibly damaging	Het
Itga7	G	T	10: 128,949,468 (GRCm38)	E847*	probably null	Het
Kcns3	A	C	12: 11,091,643 (GRCm38)	S352A	possibly damaging	Het
Kiz	A	G	2: 146,863,801 (GRCm38)	K94E	probably benign	Het
Lin7b	C	T	7: 45,369,200 (GRCm38)	V12M	probably damaging	Het
Myo5b	A	G	18: 74,644,090 (GRCm38)	H407R	probably damaging	Het
Nelfa	T	C	5: 33,898,802 (GRCm38)	T506A	probably damaging	Het
Olfr497	T	A	7: 108,423,028 (GRCm38)	Y152*	probably null	Het
Olfr763	A	G	10: 129,011,860 (GRCm38)	T192A	probably damaging	Het
Olfr816	A	G	10: 129,912,245 (GRCm38)	I11T	possibly damaging	Het
Olfr984	A	T	9: 40,101,082 (GRCm38)	M136K	probably damaging	Het
Pclo	A	C	5: 14,676,394 (GRCm38)		probably benign	Het
Pes1	G	A	11: 3,977,979 (GRCm38)	E544K	possibly damaging	Het
Rabgap1l	A	G	1: 160,740,745 (GRCm38)		probably benign	Het
Rapgef2	T	C	3: 79,068,937 (GRCm38)	M1521V	probably benign	Het
Rapgef2	C	T	3: 79,103,962 (GRCm38)		probably null	Het
Reln	A	G	5: 22,040,405 (GRCm38)	V735A	probably benign	Het
Slc2a4	A	G	11: 69,945,076 (GRCm38)	S316P	possibly damaging	Het
Smarce1	C	T	11: 99,210,187 (GRCm38)	G373E	possibly damaging	Het
Spata31d1a	T	A	13: 59,701,559 (GRCm38)	R918S	probably benign	Het
St3gal4	T	C	9: 35,052,331 (GRCm38)	K227R	probably benign	Het
Stra6l	T	A	4: 45,864,864 (GRCm38)		probably null	Het
Stxbp5l	T	C	16: 37,215,979 (GRCm38)	I425V	probably damaging	Het
Tcaf2	T	C	6: 42,630,328 (GRCm38)	T231A	probably benign	Het
Tiparp	G	T	3: 65,552,609 (GRCm38)	G442*	probably null	Het
Tnks	A	G	8: 34,839,982 (GRCm38)	Y1138H	probably damaging	Het
Vezt	T	A	10: 93,996,857 (GRCm38)	I231F	probably damaging	Het
Vmn2r4	A	T	3: 64,406,395 (GRCm38)	N388K	probably damaging	Het
Zbed3	A	G	13: 95,336,634 (GRCm38)	K189E	possibly damaging	Het
Zfp512b	T	C	2: 181,587,785 (GRCm38)	T625A	possibly damaging	Het
Zfp827	A	T	8: 79,060,733 (GRCm38)	Q176L	possibly damaging	Het

Other mutations in Myo18b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Myo18b	APN	5	112,874,131 (GRCm38)	missense	probably benign	0.05
IGL00847:Myo18b	APN	5	112,830,389 (GRCm38)	splice site	probably benign
IGL00848:Myo18b	APN	5	112,871,485 (GRCm38)	missense	probably damaging	1.00
IGL00969:Myo18b	APN	5	112,875,007 (GRCm38)	unclassified	probably benign
IGL01018:Myo18b	APN	5	112,809,747 (GRCm38)	missense	probably damaging	1.00
IGL01490:Myo18b	APN	5	112,809,700 (GRCm38)	missense	possibly damaging	0.84
IGL01556:Myo18b	APN	5	112,757,449 (GRCm38)	splice site	probably benign
IGL01637:Myo18b	APN	5	112,840,629 (GRCm38)	missense	possibly damaging	0.82
IGL01819:Myo18b	APN	5	112,878,050 (GRCm38)	missense	unknown
IGL02007:Myo18b	APN	5	112,874,972 (GRCm38)	unclassified	probably benign
IGL02146:Myo18b	APN	5	112,843,285 (GRCm38)	missense	probably damaging	1.00
IGL02229:Myo18b	APN	5	112,878,110 (GRCm38)	missense	unknown
IGL02319:Myo18b	APN	5	112,791,139 (GRCm38)	missense	probably damaging	0.99
IGL02398:Myo18b	APN	5	112,830,312 (GRCm38)	missense	possibly damaging	0.92
IGL02420:Myo18b	APN	5	112,827,986 (GRCm38)	missense	possibly damaging	0.64
IGL02626:Myo18b	APN	5	112,878,085 (GRCm38)	missense	unknown
IGL02815:Myo18b	APN	5	112,809,735 (GRCm38)	missense	probably damaging	1.00
IGL02822:Myo18b	APN	5	112,775,345 (GRCm38)	missense	probably damaging	1.00
IGL02852:Myo18b	APN	5	112,715,511 (GRCm38)	missense	probably benign	0.03
IGL02995:Myo18b	APN	5	112,775,413 (GRCm38)	splice site	probably benign
IGL03019:Myo18b	APN	5	112,692,397 (GRCm38)	missense	probably benign	0.21
IGL03039:Myo18b	APN	5	112,840,771 (GRCm38)	missense	probably damaging	1.00
IGL03112:Myo18b	APN	5	112,873,990 (GRCm38)	missense	probably benign	0.02
IGL03123:Myo18b	APN	5	112,874,938 (GRCm38)	unclassified	probably benign
IGL03288:Myo18b	APN	5	112,789,997 (GRCm38)	missense	probably damaging	1.00
IGL03391:Myo18b	APN	5	112,874,479 (GRCm38)	unclassified	probably benign
klippel	UTSW	5	112,757,453 (GRCm38)	critical splice donor site	probably null
PIT4651001:Myo18b	UTSW	5	112,834,435 (GRCm38)	missense	probably benign	0.01
R0271:Myo18b	UTSW	5	112,809,685 (GRCm38)	missense	possibly damaging	0.91
R0277:Myo18b	UTSW	5	112,693,347 (GRCm38)	splice site	probably benign
R0352:Myo18b	UTSW	5	112,874,523 (GRCm38)	unclassified	probably benign
R0504:Myo18b	UTSW	5	112,873,576 (GRCm38)	unclassified	probably benign
R0539:Myo18b	UTSW	5	112,723,868 (GRCm38)	missense	probably damaging	0.99
R0599:Myo18b	UTSW	5	112,865,750 (GRCm38)	missense	probably damaging	1.00
R0627:Myo18b	UTSW	5	112,798,834 (GRCm38)	missense	probably benign	0.38
R0659:Myo18b	UTSW	5	112,760,327 (GRCm38)	missense	possibly damaging	0.66
R0671:Myo18b	UTSW	5	112,692,766 (GRCm38)	missense	probably benign	0.00
R0847:Myo18b	UTSW	5	112,874,488 (GRCm38)	unclassified	probably benign
R1082:Myo18b	UTSW	5	112,760,414 (GRCm38)	missense	probably damaging	1.00
R1116:Myo18b	UTSW	5	112,803,279 (GRCm38)	missense	probably damaging	1.00
R1264:Myo18b	UTSW	5	112,830,319 (GRCm38)	missense	probably benign	0.12
R1280:Myo18b	UTSW	5	112,723,805 (GRCm38)	critical splice donor site	probably null
R1444:Myo18b	UTSW	5	112,775,251 (GRCm38)	critical splice donor site	probably null
R1446:Myo18b	UTSW	5	112,757,559 (GRCm38)	missense	probably damaging	1.00
R1470:Myo18b	UTSW	5	112,693,033 (GRCm38)	missense	probably damaging	1.00
R1470:Myo18b	UTSW	5	112,693,033 (GRCm38)	missense	probably damaging	1.00
R1590:Myo18b	UTSW	5	112,875,266 (GRCm38)	nonsense	probably null
R1601:Myo18b	UTSW	5	112,871,498 (GRCm38)	missense	possibly damaging	0.73
R1903:Myo18b	UTSW	5	112,692,758 (GRCm38)	missense	probably damaging	1.00
R1935:Myo18b	UTSW	5	112,760,356 (GRCm38)	missense	probably benign	0.04
R1936:Myo18b	UTSW	5	112,760,356 (GRCm38)	missense	probably benign	0.04
R2008:Myo18b	UTSW	5	112,873,557 (GRCm38)	missense	probably benign
R2127:Myo18b	UTSW	5	112,831,078 (GRCm38)	missense	probably damaging	1.00
R2129:Myo18b	UTSW	5	112,831,078 (GRCm38)	missense	probably damaging	1.00
R2141:Myo18b	UTSW	5	112,874,026 (GRCm38)	missense	probably benign	0.01
R2170:Myo18b	UTSW	5	112,723,858 (GRCm38)	missense	probably benign	0.23
R2258:Myo18b	UTSW	5	112,874,663 (GRCm38)	unclassified	probably benign
R2265:Myo18b	UTSW	5	112,782,673 (GRCm38)	missense	probably damaging	1.00
R2483:Myo18b	UTSW	5	112,858,408 (GRCm38)	missense	probably damaging	1.00
R2931:Myo18b	UTSW	5	112,693,127 (GRCm38)	missense	probably benign	0.01
R3160:Myo18b	UTSW	5	112,692,728 (GRCm38)	missense	probably damaging	0.99
R3162:Myo18b	UTSW	5	112,692,728 (GRCm38)	missense	probably damaging	0.99
R3777:Myo18b	UTSW	5	112,757,596 (GRCm38)	missense	probably damaging	0.99
R4240:Myo18b	UTSW	5	112,803,187 (GRCm38)	critical splice donor site	probably null
R4243:Myo18b	UTSW	5	112,692,395 (GRCm38)	missense	possibly damaging	0.95
R4245:Myo18b	UTSW	5	112,692,395 (GRCm38)	missense	possibly damaging	0.95
R4533:Myo18b	UTSW	5	112,693,025 (GRCm38)	missense	probably damaging	1.00
R4631:Myo18b	UTSW	5	112,846,400 (GRCm38)	missense	probably damaging	1.00
R4661:Myo18b	UTSW	5	112,875,175 (GRCm38)	unclassified	probably benign
R4755:Myo18b	UTSW	5	112,874,474 (GRCm38)	nonsense	probably null
R4771:Myo18b	UTSW	5	112,692,227 (GRCm38)	nonsense	probably null
R4812:Myo18b	UTSW	5	112,809,718 (GRCm38)	missense	possibly damaging	0.95
R4840:Myo18b	UTSW	5	112,874,029 (GRCm38)	missense	probably benign	0.02
R4888:Myo18b	UTSW	5	112,874,480 (GRCm38)	unclassified	probably benign
R4995:Myo18b	UTSW	5	112,760,392 (GRCm38)	missense	probably damaging	0.99
R5001:Myo18b	UTSW	5	112,761,340 (GRCm38)	missense	probably damaging	0.99
R5015:Myo18b	UTSW	5	112,790,057 (GRCm38)	missense	probably damaging	1.00
R5055:Myo18b	UTSW	5	112,875,217 (GRCm38)	unclassified	probably benign
R5070:Myo18b	UTSW	5	112,761,346 (GRCm38)	missense	probably damaging	1.00
R5105:Myo18b	UTSW	5	112,840,778 (GRCm38)	missense	probably damaging	1.00
R5121:Myo18b	UTSW	5	112,874,480 (GRCm38)	unclassified	probably benign
R5130:Myo18b	UTSW	5	112,873,903 (GRCm38)	missense	probably benign	0.06
R5186:Myo18b	UTSW	5	112,871,470 (GRCm38)	missense	probably damaging	1.00
R5437:Myo18b	UTSW	5	112,757,573 (GRCm38)	missense	possibly damaging	0.73
R5535:Myo18b	UTSW	5	112,790,042 (GRCm38)	missense	probably damaging	1.00
R5560:Myo18b	UTSW	5	112,868,295 (GRCm38)	missense	probably damaging	0.96
R5810:Myo18b	UTSW	5	112,834,450 (GRCm38)	missense	probably damaging	1.00
R5898:Myo18b	UTSW	5	112,802,330 (GRCm38)	splice site	probably null
R6065:Myo18b	UTSW	5	112,692,781 (GRCm38)	missense	probably benign	0.00
R6104:Myo18b	UTSW	5	112,874,291 (GRCm38)	unclassified	probably benign
R6113:Myo18b	UTSW	5	112,866,385 (GRCm38)	missense	probably damaging	1.00
R6158:Myo18b	UTSW	5	112,874,172 (GRCm38)	missense	probably benign	0.01
R6167:Myo18b	UTSW	5	112,872,507 (GRCm38)	splice site	probably null
R6220:Myo18b	UTSW	5	112,757,507 (GRCm38)	missense	possibly damaging	0.93
R6276:Myo18b	UTSW	5	112,811,642 (GRCm38)	missense	probably benign	0.31
R6290:Myo18b	UTSW	5	112,865,735 (GRCm38)	missense	possibly damaging	0.69
R6291:Myo18b	UTSW	5	112,865,735 (GRCm38)	missense	possibly damaging	0.69
R6795:Myo18b	UTSW	5	112,846,364 (GRCm38)	missense	probably damaging	0.99
R6798:Myo18b	UTSW	5	112,761,386 (GRCm38)	missense	probably damaging	0.98
R6817:Myo18b	UTSW	5	112,830,238 (GRCm38)	missense	probably benign	0.00
R6937:Myo18b	UTSW	5	112,802,392 (GRCm38)	missense	probably benign	0.12
R7034:Myo18b	UTSW	5	112,723,904 (GRCm38)	nonsense	probably null
R7097:Myo18b	UTSW	5	112,874,405 (GRCm38)	missense	unknown
R7145:Myo18b	UTSW	5	112,817,679 (GRCm38)	nonsense	probably null
R7201:Myo18b	UTSW	5	112,715,459 (GRCm38)	missense	probably damaging	1.00
R7260:Myo18b	UTSW	5	112,775,288 (GRCm38)	missense	probably benign	0.01
R7265:Myo18b	UTSW	5	112,812,072 (GRCm38)	missense	probably damaging	1.00
R7409:Myo18b	UTSW	5	112,874,105 (GRCm38)	missense	probably benign	0.25
R7466:Myo18b	UTSW	5	112,723,892 (GRCm38)	missense	probably benign	0.02
R7487:Myo18b	UTSW	5	112,834,433 (GRCm38)	missense	possibly damaging	0.93
R7571:Myo18b	UTSW	5	112,830,328 (GRCm38)	missense	probably damaging	1.00
R7600:Myo18b	UTSW	5	112,878,103 (GRCm38)	missense	unknown
R7612:Myo18b	UTSW	5	112,865,302 (GRCm38)	missense	possibly damaging	0.82
R7617:Myo18b	UTSW	5	112,757,453 (GRCm38)	critical splice donor site	probably null
R7696:Myo18b	UTSW	5	112,692,292 (GRCm38)	missense	probably damaging	1.00
R7710:Myo18b	UTSW	5	112,875,025 (GRCm38)	missense	unknown
R8047:Myo18b	UTSW	5	112,723,815 (GRCm38)	missense	possibly damaging	0.91
R8070:Myo18b	UTSW	5	112,791,120 (GRCm38)	missense	probably benign	0.01
R8088:Myo18b	UTSW	5	112,879,510 (GRCm38)	start gained	probably benign
R8247:Myo18b	UTSW	5	112,692,196 (GRCm38)	missense	probably damaging	1.00
R8276:Myo18b	UTSW	5	112,795,407 (GRCm38)	missense	possibly damaging	0.50
R8313:Myo18b	UTSW	5	112,875,179 (GRCm38)	missense	unknown
R8375:Myo18b	UTSW	5	112,760,393 (GRCm38)	missense	possibly damaging	0.85
R8432:Myo18b	UTSW	5	112,764,512 (GRCm38)	missense	probably benign	0.00
R8475:Myo18b	UTSW	5	112,873,556 (GRCm38)	nonsense	probably null
R8482:Myo18b	UTSW	5	112,871,623 (GRCm38)	nonsense	probably null
R8671:Myo18b	UTSW	5	112,874,743 (GRCm38)	missense	unknown
R8681:Myo18b	UTSW	5	112,873,563 (GRCm38)	critical splice acceptor site	probably null
R8918:Myo18b	UTSW	5	112,875,007 (GRCm38)	unclassified	probably benign
R8941:Myo18b	UTSW	5	112,874,929 (GRCm38)	unclassified	probably benign
R8962:Myo18b	UTSW	5	112,858,480 (GRCm38)	missense	probably benign	0.24
R8972:Myo18b	UTSW	5	112,693,298 (GRCm38)	missense	probably benign	0.00
R9116:Myo18b	UTSW	5	112,827,996 (GRCm38)	missense	probably damaging	1.00
R9209:Myo18b	UTSW	5	112,875,061 (GRCm38)	missense	unknown
R9358:Myo18b	UTSW	5	112,795,403 (GRCm38)	missense	possibly damaging	0.93
R9469:Myo18b	UTSW	5	112,846,381 (GRCm38)	missense	probably benign	0.15
R9607:Myo18b	UTSW	5	112,874,678 (GRCm38)	missense	unknown
R9659:Myo18b	UTSW	5	112,874,516 (GRCm38)	missense	unknown
Z1088:Myo18b	UTSW	5	112,757,484 (GRCm38)	missense	probably benign	0.25
Z1088:Myo18b	UTSW	5	112,692,943 (GRCm38)	missense	possibly damaging	0.89
Z1176:Myo18b	UTSW	5	112,831,190 (GRCm38)	missense	probably damaging	1.00
Z1176:Myo18b	UTSW	5	112,809,738 (GRCm38)	missense	possibly damaging	0.87
Z1176:Myo18b	UTSW	5	112,762,721 (GRCm38)	missense	not run
Z1177:Myo18b	UTSW	5	112,873,541 (GRCm38)	nonsense	probably null
Z1177:Myo18b	UTSW	5	112,762,721 (GRCm38)	missense	not run
Z1177:Myo18b	UTSW	5	112,692,899 (GRCm38)	missense	probably damaging	1.00
Z1177:Myo18b	UTSW	5	112,875,152 (GRCm38)	nonsense	probably null

Posted On

2013-11-11