Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02553:Myo3b'

298574

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 #

IGL02553

Quality Score

Status

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70095224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 12 (M12V)

Ref Sequence

ENSEMBL: ENSMUSP00000107862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060208] [ENSMUST00000112241] [ENSMUST00000112243]

AlphaFold

Q1EG27

Predicted Effect

probably benign
Transcript: ENSMUST00000060208
AA Change: M40V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: M40V

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: ENSMUST00000112241

SMART Domains

Protein: ENSMUSP00000107860
Gene: ENSMUSG00000042064

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	187	3.7e-30	PFAM
Pfam:Pkinase	1	188	8.3e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112243
AA Change: M12V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: M12V

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,351,924	S1326P	probably damaging	Het
Alpk1	A	T	3: 127,673,321	L1103Q	probably damaging	Het
Arhgap11a	A	C	2: 113,837,561		probably benign	Het
Arl6ip6	A	G	2: 53,192,214	Y31C	possibly damaging	Het
Arpin	G	T	7: 79,927,647	D217E	possibly damaging	Het
Atp13a4	C	T	16: 29,422,703	V735I	probably benign	Het
Ccdc146	A	T	5: 21,297,633	F753L	probably benign	Het
Cdh3	T	A	8: 106,544,248	L511*	probably null	Het
Chrna1	A	T	2: 73,566,862	I361N	possibly damaging	Het
Clk2	G	A	3: 89,175,713	R432H	probably damaging	Het
Col9a1	T	C	1: 24,221,937		probably benign	Het
Cstf1	G	T	2: 172,377,854	R295L	probably benign	Het
Dsg2	A	G	18: 20,592,410	D526G	probably damaging	Het
Dsg4	T	A	18: 20,462,520	H593Q	probably benign	Het
Dysf	T	C	6: 84,130,127	Y1171H	possibly damaging	Het
Erbb4	A	G	1: 68,305,864	L566P	probably benign	Het
Fam185a	T	A	5: 21,455,831	D281E	probably damaging	Het
Fam185a	T	A	5: 21,429,841		probably benign	Het
Fam91a1	T	A	15: 58,432,982		probably null	Het
Fat2	A	G	11: 55,311,283	W322R	probably damaging	Het
Fbxw8	T	A	5: 118,066,060		probably benign	Het
Ganc	A	G	2: 120,458,134	T874A	probably benign	Het
Gm3543	T	C	14: 41,980,091	I145M	probably benign	Het
Gtf2i	G	A	5: 134,245,161	T712I	probably damaging	Het
Hk1	A	G	10: 62,295,773	S268P	possibly damaging	Het
Hmcn1	A	G	1: 150,993,023	V10A	probably benign	Het
Hsd17b4	C	T	18: 50,162,097		probably benign	Het
Ighv1-75	A	T	12: 115,834,105	W66R	probably damaging	Het
Kif21b	G	T	1: 136,154,121	D636Y	probably damaging	Het
Kif5b	A	T	18: 6,220,914	I398N	probably benign	Het
Metap2	T	C	10: 93,865,449	M165V	probably damaging	Het
Mterf2	A	C	10: 85,120,467	L98V	probably damaging	Het
Muc16	A	G	9: 18,498,553		probably null	Het
Nat10	C	A	2: 103,752,668	R136I	probably damaging	Het
Nsd2	T	G	5: 33,846,198	S231A	probably damaging	Het
Olfr1243	T	C	2: 89,527,931	T160A	probably benign	Het
Olfr1281	A	T	2: 111,328,988	M190L	probably benign	Het
Pcdhb14	T	A	18: 37,448,018	L59*	probably null	Het
Pias4	A	G	10: 81,163,787	L144P	probably damaging	Het
Plxna2	T	A	1: 194,751,438	N598K	probably benign	Het
Polq	A	G	16: 37,041,768	Y550C	probably damaging	Het
Pot1b	T	A	17: 55,695,024		probably benign	Het
Proz	T	C	8: 13,065,260	V92A	probably benign	Het
Rab4a	T	C	8: 123,823,822	F14L	probably benign	Het
Riok3	T	A	18: 12,143,016	C256*	probably null	Het
Slc6a1	T	A	6: 114,302,490		probably benign	Het
Socs5	C	T	17: 87,134,991	T453M	probably damaging	Het
Spata3	T	C	1: 86,024,489	L135P	probably damaging	Het
Spata46	A	G	1: 170,311,965	K178E	probably damaging	Het
Spr	T	C	6: 85,137,448	N100D	probably damaging	Het
Srrm4	C	T	5: 116,444,565		probably benign	Het
Stard3	T	C	11: 98,376,563	F169S	possibly damaging	Het
Tbx1	T	A	16: 18,584,097	D222V	probably damaging	Het
Trbv23	C	T	6: 41,216,345	Q56*	probably null	Het
Tsc22d1	A	G	14: 76,417,398	N357S	possibly damaging	Het
Ugt1a6a	C	T	1: 88,139,089	P206S	probably benign	Het
Utp20	A	G	10: 88,764,795	V19A	probably damaging	Het
Vps13b	A	G	15: 35,646,301	N1517S	probably benign	Het
Washc2	T	C	6: 116,241,610	I672T	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
IGL02220:Myo3b	APN	2	70289579	splice site	probably benign
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
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

2015-04-16