Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Myo3b'

408421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 70426816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107862 (fasta)

Gene Model

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

AlphaFold

Q1EG27

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,644	D246G	probably damaging	Het
4930452B06Rik	A	G	14: 8,511,113	S434P	probably damaging	Het
4931406B18Rik	A	G	7: 43,495,633	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,940,369	S200R	possibly damaging	Het
Adam29	T	C	8: 55,873,065	D118G	probably damaging	Het
Adh4	A	G	3: 138,429,145	D360G	probably benign	Het
Ankle2	A	G	5: 110,251,610	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,273,373		probably benign	Het
Ap1g2	T	A	14: 55,106,047	I28F	probably damaging	Het
Baz2a	C	T	10: 128,125,146	T1608I	possibly damaging	Het
C530008M17Rik	A	G	5: 76,857,616	D608G	unknown	Het
Cacnb4	T	C	2: 52,474,882	D123G	probably damaging	Het
Cage1	G	A	13: 38,028,147	T51M	probably benign	Het
Ccdc63	A	G	5: 122,122,813	V216A	probably benign	Het
Ccnd2	A	G	6: 127,148,878	V65A	probably damaging	Het
Chd3	T	A	11: 69,354,404	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,677		probably benign	Het
Cobl	G	T	11: 12,254,241	N813K	possibly damaging	Het
Cog5	G	A	12: 31,790,922	V249M	probably damaging	Het
Cps1	A	G	1: 67,142,921	N98S	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,713	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,294,317	V603A	possibly damaging	Het
F12	A	G	13: 55,421,519		probably benign	Het
Ficd	G	A	5: 113,736,929	V20I	probably benign	Het
Gatad2b	G	T	3: 90,341,937	G94V	probably benign	Het
Gm4845	G	A	1: 141,256,665		noncoding transcript	Het
Hrnr	G	A	3: 93,320,601	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,102,412	S584P	probably damaging	Het
Klk1b24	C	A	7: 44,191,366	Q73K	probably benign	Het
Lrp10	C	A	14: 54,469,162	N518K	possibly damaging	Het
Lsr	A	G	7: 30,959,281	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,709,703	M1K	probably null	Het
Mprip	T	A	11: 59,741,115		probably null	Het
Olfr1019	T	C	2: 85,841,072	T240A	probably damaging	Het
Olfr123	T	A	17: 37,796,271	Y276N	probably damaging	Het
Olfr1463	C	T	19: 13,235,054	S268L	probably damaging	Het
Olfr32	A	T	2: 90,138,662	I159N	possibly damaging	Het
Olfr365	T	C	2: 37,201,871	V210A	probably benign	Het
Oprd1	A	G	4: 132,117,385	F104S	possibly damaging	Het
Palb2	A	G	7: 122,113,256	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,490,733	D372V	probably damaging	Het
Phc3	A	G	3: 30,936,853	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,641,947		probably benign	Het
Pik3ip1	A	G	11: 3,333,259	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,591,976	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,596,902	V4169A	probably benign	Het
Pklr	A	T	3: 89,142,656	I313F	probably damaging	Het
Plxna4	T	A	6: 32,202,225	T952S	probably benign	Het
Pop4	A	T	7: 38,263,306	I178N	probably damaging	Het
Prss40	A	C	1: 34,558,101	V122G	probably damaging	Het
Rapgef2	C	A	3: 79,074,307		probably null	Het
Rbm19	A	G	5: 120,131,246	D538G	probably damaging	Het
Rnf44	G	A	13: 54,681,990	R312*	probably null	Het
Rock1	T	C	18: 10,070,215		probably benign	Het
Rrp1b	A	G	17: 32,056,901	E474G	probably damaging	Het
Ryr2	T	A	13: 11,684,479	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,939,505	S801P	probably damaging	Het
Skint6	T	C	4: 113,012,956	I602V	probably benign	Het
Slc6a19	C	A	13: 73,700,471	V55L	probably damaging	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Trappc11	C	A	8: 47,513,929	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,286,846	W75*	probably null	Het
Vmn2r52	A	G	7: 10,158,872	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,381,315	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,044,968	K74M	probably damaging	Het
Wrn	T	A	8: 33,248,961	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,580,845	T82A	probably benign	Het
Zfp82	T	C	7: 30,057,465	E64G	probably benign	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
IGL02220:Myo3b	APN	2	70289579	splice site	probably benign
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
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
R8803:Myo3b	UTSW	2	70252994	missense	probably benign
R8843:Myo3b	UTSW	2	70257981	missense	probably damaging	1.00
R8896:Myo3b	UTSW	2	70238816	missense	probably damaging	1.00
R8904:Myo3b	UTSW	2	70426908	missense	probably benign	0.07
R8909:Myo3b	UTSW	2	70253096	missense	probably damaging	1.00
R9031:Myo3b	UTSW	2	70251750	missense	probably damaging	0.99
R9052:Myo3b	UTSW	2	70232403	missense	probably benign	0.00
R9251:Myo3b	UTSW	2	70258081	nonsense	probably null
R9268:Myo3b	UTSW	2	70426961	makesense	probably null
R9334:Myo3b	UTSW	2	70217016	missense	probably damaging	1.00
R9377:Myo3b	UTSW	2	70238898	missense	possibly damaging	0.78
R9457:Myo3b	UTSW	2	70095209	missense	probably benign	0.01
R9520:Myo3b	UTSW	2	70232409	missense	possibly damaging	0.67
R9593:Myo3b	UTSW	2	70245304	missense	probably benign	0.43
R9671:Myo3b	UTSW	2	70256564	missense	probably damaging	1.00
R9790:Myo3b	UTSW	2	70349943	missense	probably benign	0.35
R9791:Myo3b	UTSW	2	70349943	missense	probably benign	0.35
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

2016-08-02