Mutagenetix > Incidental Mutation

Incidental Mutation 'R8896:Myo3b'

678004

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70238816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 494 (F494L)

Ref Sequence

ENSEMBL: ENSMUSP00000055362 (fasta)

Gene Model

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

AlphaFold

Q1EG27

Predicted Effect

probably damaging
Transcript: ENSMUST00000060208
AA Change: F494L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: F494L

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 damaging
Transcript: ENSMUST00000112243
AA Change: F466L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: F466L

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	G	1: 58,252,074	S784A	probably benign	Het
Ap3d1	T	A	10: 80,716,591	H581L	probably benign	Het
Atp11a	T	C	8: 12,849,781	Y915H	probably damaging	Het
Atp4b	T	C	8: 13,387,514	D213G	probably benign	Het
Bcl11a	A	G	11: 24,163,640	S328G	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cadps2	T	A	6: 23,410,877	Y685F	probably damaging	Het
Ccdc88b	C	T	19: 6,853,835	A580T	probably benign	Het
Cdc42bpa	GACAACA	GACA	1: 180,130,808		probably benign	Het
Cep152	A	T	2: 125,566,235	V1396D	possibly damaging	Het
Ces1c	T	C	8: 93,106,626	I404V	probably benign	Het
Cr2	A	T	1: 195,169,273	M137K	possibly damaging	Het
Cyp2d40	T	C	15: 82,760,253	Y257C	unknown	Het
Dennd1c	T	A	17: 57,074,512	D116V	probably damaging	Het
Dph2	G	A	4: 117,890,378	R270*	probably null	Het
Dpp8	A	C	9: 65,078,036	H792P	possibly damaging	Het
Dupd1	T	C	14: 21,686,695	D113G	probably benign	Het
Efs	T	C	14: 54,920,299	E185G	possibly damaging	Het
Eml3	A	G	19: 8,936,692	E480G	probably damaging	Het
Fam193a	A	G	5: 34,426,484	T336A	probably benign	Het
Fermt1	C	T	2: 132,941,932		probably benign	Het
Galnt4	T	A	10: 99,110,093	V560D	probably damaging	Het
Gbp2b	C	A	3: 142,603,566	T146K	probably damaging	Het
Gbp5	C	T	3: 142,505,547	T346I	probably damaging	Het
Glrx	G	T	13: 75,847,198	C79F	probably damaging	Het
Glt8d2	T	A	10: 82,654,782	T225S	probably damaging	Het
Grm3	A	G	5: 9,512,483	F456L	possibly damaging	Het
Gse1	T	G	8: 120,576,446	S1109A	unknown	Het
Gstp3	A	T	19: 4,058,573	L63Q	probably damaging	Het
Hapln3	G	A	7: 79,117,491	R267W	probably benign	Het
Herc4	T	A	10: 63,311,507	I801N	possibly damaging	Het
Ido1	G	T	8: 24,587,864	D153E	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnj9	T	A	1: 172,325,793	S255C	probably damaging	Het
Kpna3	T	C	14: 61,391,845	N39D	probably benign	Het
Krt39	A	T	11: 99,518,269	S269T	probably damaging	Het
Lfng	G	A	5: 140,613,223	V296I	probably benign	Het
Lrit3	T	A	3: 129,791,483	I209F	probably damaging	Het
Map4k5	T	A	12: 69,823,501	D523V	possibly damaging	Het
Mdn1	C	T	4: 32,678,328	P652L	probably benign	Het
Med30	G	A	15: 52,721,120	V145I	possibly damaging	Het
Megf6	T	A	4: 154,242,403	D163E	probably damaging	Het
Meltf	T	A	16: 31,890,704		probably benign	Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Mppe1	T	C	18: 67,237,401	D75G	probably damaging	Het
Muc4	C	T	16: 32,754,673	P1516S	probably benign	Het
Nedd4l	A	G	18: 65,165,617	T226A	probably benign	Het
Nod1	A	G	6: 54,944,292	V347A	probably benign	Het
Nup210	A	T	6: 91,042,253		probably null	Het
Nup210l	A	G	3: 90,118,625	R185G	probably damaging	Het
Olfr202	A	T	16: 59,284,089	M136K	probably damaging	Het
Olfr62	A	T	4: 118,666,305	M263L	probably benign	Het
Olfr957	A	G	9: 39,511,474	L82P	probably damaging	Het
Oma1	T	C	4: 103,353,632	L445S	probably damaging	Het
Oxsm	A	T	14: 16,242,677	F31I	probably benign	Het
Pdcd5	A	T	7: 35,647,370	M1K	probably null	Het
Pkd1l2	T	C	8: 117,013,876	T2161A	possibly damaging	Het
Pla2g3	A	T	11: 3,492,151	S404C	probably null	Het
Plec	A	G	15: 76,194,360	V60A	unknown	Het
Prpsap2	A	G	11: 61,752,910	S66P	possibly damaging	Het
Rarb	A	G	14: 16,436,804	L239P	probably damaging	Het
Ryr3	A	T	2: 112,753,050	Y2845*	probably null	Het
Spta1	T	C	1: 174,217,982	C1569R	probably damaging	Het
Stard13	G	A	5: 151,062,650	S465L	probably damaging	Het
Tmub1	A	T	5: 24,446,682	S80T	probably benign	Het
Trpv5	A	G	6: 41,670,913	F322S	probably damaging	Het
Vmn2r5	G	A	3: 64,503,782	A455V	probably benign	Het
Washc4	T	A	10: 83,570,018	N459K	probably damaging	Het
Wdr11	C	T	7: 129,605,713	R300*	probably null	Het
Zer1	A	G	2: 30,103,418	F559L	probably damaging	Het
Zfat	A	T	15: 68,180,670	V425D	probably damaging	Het
Zfp738	G	A	13: 67,669,791	L694F		Het
Zfp839	C	T	12: 110,868,843	A844V	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
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
R8803:Myo3b	UTSW	2	70252994	missense	probably benign
R8843:Myo3b	UTSW	2	70257981	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

Predicted Primers

PCR Primer
(F):5'- GGGGTTTGATGCTAACTTTCCC -3'
(R):5'- CTTCAAGATTGCCAGATTCTCC -3'

Sequencing Primer
(F):5'- ACTTTCCCAAGGTAGAGTTGC -3'
(R):5'- CTCCAGTTGGTGTGAACA -3'

Posted On

2021-08-02