Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02220:Myo3b'

285128

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 70289579 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060208] [ENSMUST00000112243]

Predicted Effect

probably benign
Transcript: ENSMUST00000060208

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064

Domain	Start	End	E-Value	Type
S_TKc	43	309	2.24e-85	SMART
MYSc	353	1075	6.61e-260	SMART
IQ	1075	1097	9.51e1	SMART
IQ	1102	1124	1.73e-5	SMART
low complexity region	1319	1324	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112243

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064

Domain	Start	End	E-Value	Type
S_TKc	15	281	2.24e-85	SMART
MYSc	325	1047	6.61e-260	SMART
IQ	1047	1069	9.51e1	SMART
IQ	1074	1096	1.73e-5	SMART
low complexity region	1291	1296	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,711,172	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,977,499	M1V	probably null	Het
Anks1	T	C	17: 28,054,707	I977T	probably damaging	Het
Bcar1	T	C	8: 111,711,207	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,974,891	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,514,879	G473D	probably damaging	Het
Cdh23	G	T	10: 60,305,124	H3148Q	probably damaging	Het
Col6a4	A	G	9: 106,062,942	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,259,148		probably benign	Het
D130043K22Rik	G	A	13: 24,883,755	G825S	possibly damaging	Het
Dera	T	A	6: 137,780,817		probably null	Het
Dnah17	G	T	11: 118,072,967	Y2506*	probably null	Het
Enam	T	A	5: 88,504,559	L1309*	probably null	Het
Fbxo15	G	A	18: 84,964,192		probably null	Het
Fgfbp1	T	C	5: 43,979,486	K155E	probably damaging	Het
Foxj2	C	T	6: 122,838,581		probably benign	Het
Fuca1	A	G	4: 135,939,219		probably benign	Het
Gad1-ps	T	A	10: 99,445,322		noncoding transcript	Het
H2-Eb2	C	T	17: 34,325,687		probably benign	Het
Insr	A	T	8: 3,159,578	F1168L	probably damaging	Het
Isx	T	A	8: 74,892,705	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,367,989		probably benign	Het
Lin9	T	C	1: 180,667,367	I218T	probably damaging	Het
Llgl2	C	A	11: 115,845,379	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,829,309	E488G	possibly damaging	Het
Maml3	A	G	3: 51,690,218	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,715,655	I14T	probably damaging	Het
Nfkbil1	T	C	17: 35,220,746	R264G	possibly damaging	Het
Olfr140	A	G	2: 90,051,694	L210P	probably damaging	Het
Pde5a	G	T	3: 122,748,382	A174S	probably benign	Het
Plch1	A	T	3: 63,698,961	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,481,775	R1171L	probably damaging	Het
Prom1	T	C	5: 44,014,789	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,743		probably benign	Het
Samsn1	A	G	16: 75,883,875		probably null	Het
Sbno2	T	A	10: 80,072,368	T66S	probably benign	Het
Serpina1c	T	A	12: 103,896,079	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,188,270		probably null	Het
Slc18a2	A	G	19: 59,276,556	E324G	probably benign	Het
Slc40a1	A	T	1: 45,911,335	M319K	probably damaging	Het
Slc44a5	T	C	3: 154,250,971	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,842,500	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,190,716	F545S	probably benign	Het
Svop	T	C	5: 114,065,528	D65G	probably benign	Het
Tex30	A	T	1: 44,087,022	S182R	probably benign	Het
Tmem121b	T	C	6: 120,492,337	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 60,973,492		probably benign	Het
Tnrc6a	T	C	7: 123,170,456	S490P	probably benign	Het
Ubr4	A	G	4: 139,388,435	T82A	probably benign	Het
Vps16	A	G	2: 130,441,653	D589G	possibly damaging	Het
Zscan29	A	C	2: 121,166,689	S184A	probably damaging	Het

Other mutations in Myo3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Myo3b	APN	2	70105645	splice site	probably benign
IGL00959:Myo3b	APN	2	70314292	missense	probably damaging	1.00
IGL01069:Myo3b	APN	2	70245391	missense	probably benign	0.22
IGL01116:Myo3b	APN	2	70289386	missense	probably damaging	1.00
IGL02097:Myo3b	APN	2	70238829	missense	probably damaging	1.00
IGL02553:Myo3b	APN	2	70095224	missense	probably benign	0.00
IGL02557:Myo3b	APN	2	70255319	missense	probably benign	0.16
IGL02648:Myo3b	APN	2	70105372	splice site	probably benign
IGL02902:Myo3b	APN	2	70289401	missense	probably benign	0.36
IGL02981:Myo3b	APN	2	70108625	missense	probably damaging	1.00
IGL03030:Myo3b	APN	2	70426816	splice site	probably benign
IGL03031:Myo3b	APN	2	70255377	missense	possibly damaging	0.64
IGL03068:Myo3b	APN	2	70426816	splice site	probably benign
IGL03078:Myo3b	APN	2	70286991	missense	probably damaging	1.00
IGL03224:Myo3b	APN	2	70349939	missense	probably benign
IGL03329:Myo3b	APN	2	70254459	missense	probably damaging	1.00
R0079:Myo3b	UTSW	2	70095158	missense	possibly damaging	0.58
R0226:Myo3b	UTSW	2	70217166	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0313:Myo3b	UTSW	2	70348959	nonsense	probably null
R0331:Myo3b	UTSW	2	70095261	missense	probably damaging	1.00
R0371:Myo3b	UTSW	2	70252960	splice site	probably benign
R0442:Myo3b	UTSW	2	70238961	critical splice donor site	probably null
R0964:Myo3b	UTSW	2	70426849	missense	probably damaging	1.00
R1217:Myo3b	UTSW	2	70330880	missense	probably benign	0.02
R1429:Myo3b	UTSW	2	70253007	missense	probably damaging	0.97
R1460:Myo3b	UTSW	2	70232454	missense	probably benign	0.31
R1617:Myo3b	UTSW	2	70281218	missense	probably benign	0.00
R1628:Myo3b	UTSW	2	70286962	missense	probably benign	0.01
R1708:Myo3b	UTSW	2	70245385	nonsense	probably null
R1940:Myo3b	UTSW	2	70258075	missense	probably benign	0.01
R2407:Myo3b	UTSW	2	70255253	missense	probably damaging	1.00
R3081:Myo3b	UTSW	2	70256583	splice site	probably benign
R3687:Myo3b	UTSW	2	70245314	missense	probably benign
R3745:Myo3b	UTSW	2	70234485	splice site	probably benign
R4011:Myo3b	UTSW	2	70096376	missense	probably benign	0.15
R4074:Myo3b	UTSW	2	70289464	missense	probably damaging	1.00
R4419:Myo3b	UTSW	2	70096362	missense	probably damaging	1.00
R4496:Myo3b	UTSW	2	70254404	missense	probably benign
R4539:Myo3b	UTSW	2	70039147	start codon destroyed	probably null	0.00
R4643:Myo3b	UTSW	2	70238842	missense	possibly damaging	0.49
R4657:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
R4807:Myo3b	UTSW	2	70105712	missense	probably damaging	1.00
R4849:Myo3b	UTSW	2	70244909	missense	probably damaging	0.98
R4997:Myo3b	UTSW	2	70258083	missense	possibly damaging	0.49
R5008:Myo3b	UTSW	2	70258068	missense	probably damaging	0.99
R5070:Myo3b	UTSW	2	70253112	missense	probably damaging	1.00
R5072:Myo3b	UTSW	2	70095249	missense	possibly damaging	0.96
R5082:Myo3b	UTSW	2	70258030	missense	probably benign	0.01
R5103:Myo3b	UTSW	2	70096403	missense	probably benign	0.08
R5109:Myo3b	UTSW	2	70095293	missense	possibly damaging	0.66
R5304:Myo3b	UTSW	2	70426888	missense	probably damaging	0.97
R5396:Myo3b	UTSW	2	70126985	missense	probably damaging	0.99
R5400:Myo3b	UTSW	2	70105380	missense	probably damaging	1.00
R5468:Myo3b	UTSW	2	70234441	missense	probably benign	0.00
R5620:Myo3b	UTSW	2	70238910	missense	probably benign	0.04
R5646:Myo3b	UTSW	2	70314430	missense	probably damaging	0.97
R5729:Myo3b	UTSW	2	70105739	missense	probably damaging	1.00
R5943:Myo3b	UTSW	2	70286941	missense	probably benign	0.03
R5971:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
R6091:Myo3b	UTSW	2	70238769	missense	probably benign	0.00
R6138:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
R6164:Myo3b	UTSW	2	70245410	critical splice donor site	probably null
R6177:Myo3b	UTSW	2	70313363	missense	probably benign	0.00
R6421:Myo3b	UTSW	2	70313356	missense	probably benign	0.02
R6478:Myo3b	UTSW	2	70348960	missense	probably benign
R6606:Myo3b	UTSW	2	70232485	missense	possibly damaging	0.94
R6752:Myo3b	UTSW	2	70289512	missense	probably damaging	1.00
R6982:Myo3b	UTSW	2	70426065	missense	probably benign	0.02
R6997:Myo3b	UTSW	2	70126985	missense	probably damaging	0.99
R7032:Myo3b	UTSW	2	70095264	missense	probably damaging	0.98
R7038:Myo3b	UTSW	2	70095208	missense	probably benign	0.00
R7062:Myo3b	UTSW	2	70217157	missense	probably benign	0.00
R7537:Myo3b	UTSW	2	70217169	missense	probably benign	0.01
R7861:Myo3b	UTSW	2	70108688	missense	probably damaging	1.00
R7955:Myo3b	UTSW	2	70095279	missense	probably benign	0.37
R7977:Myo3b	UTSW	2	70330933	missense	probably benign
R7978:Myo3b	UTSW	2	70253114	missense	probably damaging	1.00
R7987:Myo3b	UTSW	2	70330933	missense	probably benign
U15987:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
X0025:Myo3b	UTSW	2	70232403	missense	probably benign	0.00
X0065:Myo3b	UTSW	2	70257969	missense	probably damaging	1.00
Z1177:Myo3b	UTSW	2	70096361	missense	probably damaging	1.00
Z1177:Myo3b	UTSW	2	70258027	missense	probably benign	0.01

Posted On

2015-04-16