Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02852:Myo18b'

361949

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 #

IGL02852

Quality Score

Status

Chromosome

Chromosomal Location

112836742-113044228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112863377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 2154 (V2154I)

Ref Sequence

ENSEMBL: ENSMUSP00000083810 (fasta)

Gene Model

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

AlphaFold

E9PV66

Predicted Effect

probably benign
Transcript: ENSMUST00000086617
AA Change: V2154I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: V2154I

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: ENSMUST00000182189

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcar1	A	T	8: 112,441,979 (GRCm39)	L287*	probably null	Het
Birc2	A	G	9: 7,854,484 (GRCm39)	I402T	probably damaging	Het
Btrc	T	A	19: 45,501,095 (GRCm39)	L153*	probably null	Het
C2cd3	T	C	7: 100,079,396 (GRCm39)	F1245L	probably damaging	Het
Cabp7	C	T	11: 4,688,912 (GRCm39)	R186H	probably damaging	Het
Cdk5r2	T	C	1: 74,895,298 (GRCm39)	S348P	probably benign	Het
Cfhr4	T	C	1: 139,701,754 (GRCm39)	Y120C	probably damaging	Het
Clca3a2	T	C	3: 144,512,104 (GRCm39)	D544G	probably damaging	Het
Col6a6	A	C	9: 105,661,272 (GRCm39)	I279S	probably damaging	Het
Csmd1	T	A	8: 15,945,728 (GRCm39)	T3562S	probably damaging	Het
Dgkd	T	C	1: 87,863,135 (GRCm39)	S61P	probably damaging	Het
Dph5	T	A	3: 115,722,320 (GRCm39)	M266K	possibly damaging	Het
Gm14226	G	A	2: 154,866,841 (GRCm39)	S266N	possibly damaging	Het
Gm28047	A	G	15: 102,446,653 (GRCm39)	V400A	possibly damaging	Het
Gucy1a2	A	G	9: 3,759,691 (GRCm39)	D499G	probably benign	Het
Hoxb7	C	T	11: 96,180,320 (GRCm39)	T173M	possibly damaging	Het
Kcnn3	T	A	3: 89,516,923 (GRCm39)	I444N	probably damaging	Het
Kif1b	A	G	4: 149,375,785 (GRCm39)	I27T	probably damaging	Het
Krtap8-1	A	G	16: 89,284,753 (GRCm39)	Y15H	probably benign	Het
Pcdhb3	A	G	18: 37,435,150 (GRCm39)	D372G	probably damaging	Het
Pfkp	G	T	13: 6,655,059 (GRCm39)	P340Q	possibly damaging	Het
Plcd3	C	T	11: 102,964,631 (GRCm39)	R580Q	probably damaging	Het
Pou5f2	G	A	13: 78,173,178 (GRCm39)	R40Q	probably benign	Het
Ppara	G	T	15: 85,682,079 (GRCm39)	M258I	probably benign	Het
Proc	A	G	18: 32,258,208 (GRCm39)	S246P	probably damaging	Het
Ptpn21	T	C	12: 98,681,454 (GRCm39)		probably null	Het
Ripor2	T	C	13: 24,879,681 (GRCm39)	F383S	probably damaging	Het
Rnf39	T	C	17: 37,256,094 (GRCm39)		probably benign	Het
Sema6c	C	A	3: 95,077,295 (GRCm39)		probably benign	Het
Slc16a5	A	G	11: 115,360,405 (GRCm39)	E196G	probably benign	Het
Slco1c1	T	A	6: 141,493,550 (GRCm39)	L313*	probably null	Het
Slit2	T	C	5: 48,402,014 (GRCm39)	F789S	probably damaging	Het
Spta1	A	G	1: 174,071,676 (GRCm39)	M2219V	probably benign	Het
Sqle	A	T	15: 59,197,920 (GRCm39)	H380L	probably damaging	Het
Tek	T	C	4: 94,743,561 (GRCm39)	Y859H	probably damaging	Het
Trcg1	A	T	9: 57,148,595 (GRCm39)	T56S	possibly damaging	Het
Ttc23	T	A	7: 67,316,903 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,774,648 (GRCm39)		probably benign	Het
Uba1y	C	T	Y: 828,841 (GRCm39)	R550*	probably null	Het
Ubqln4	T	C	3: 88,462,778 (GRCm39)	V81A	probably damaging	Het
Ugt2b38	C	T	5: 87,559,600 (GRCm39)	E431K	probably benign	Het
Vmn1r85	T	G	7: 12,819,010 (GRCm39)	I45L	possibly damaging	Het
Vmn2r68	T	G	7: 84,882,595 (GRCm39)	S386R	probably damaging	Het
Washc4	A	G	10: 83,419,173 (GRCm39)	T902A	possibly damaging	Het
Zc3h15	G	A	2: 83,475,015 (GRCm39)	A7T	possibly damaging	Het
Zdhhc19	A	C	16: 32,316,460 (GRCm39)	T72P	probably damaging	Het
Zfp729a	A	T	13: 67,768,070 (GRCm39)	S720T	possibly damaging	Het
Zfp729b	T	C	13: 67,740,942 (GRCm39)	K441R	probably damaging	Het
Zfy2	C	T	Y: 2,106,894 (GRCm39)	G580D	probably benign	Het
Zfy2	T	A	Y: 2,117,188 (GRCm39)	H213L	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
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

2015-12-18