Mutagenetix > Incidental Mutation

Incidental Mutation 'R5620:Myo3b'

439764

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

043160-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5620 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70238910 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 498 (R498G)

Ref Sequence

ENSEMBL: ENSMUSP00000107862 (fasta)

Gene Model

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

AlphaFold

Q1EG27

Predicted Effect

probably benign
Transcript: ENSMUST00000060208
AA Change: R526G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: R526G

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
AA Change: R498G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: R498G

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,338,391	S511A	probably benign	Het
Abca3	C	T	17: 24,396,470	T845I	probably benign	Het
Acaa2	G	A	18: 74,805,874	A377T	possibly damaging	Het
Adcy4	C	A	14: 55,772,367	E743*	probably null	Het
Ahnak	T	A	19: 9,013,094	L3914*	probably null	Het
Akap1	G	T	11: 88,845,517	N106K	possibly damaging	Het
Arhgap8	A	G	15: 84,756,369	S140G	probably benign	Het
Arid2	C	T	15: 96,372,506	T1500I	probably benign	Het
Atp6v0a2	T	A	5: 124,645,969	Y252*	probably null	Het
BC055324	C	A	1: 163,962,044	G641*	probably null	Het
C4bp	A	G	1: 130,653,353	S140P	probably damaging	Het
Cald1	A	G	6: 34,762,112	I384M	probably damaging	Het
Cdk12	A	G	11: 98,210,983	I556V	unknown	Het
Chmp2a	T	C	7: 13,032,310	S174G	probably benign	Het
Clybl	T	A	14: 122,311,343	N52K	probably damaging	Het
Cyp4a29	C	A	4: 115,250,891	S303R	probably benign	Het
Dab2	T	A	15: 6,418,315	D59E	probably damaging	Het
Dag1	C	A	9: 108,209,015	R309L	probably damaging	Het
Dync1i2	T	A	2: 71,258,139	M505K	probably benign	Het
Eif2b1	A	T	5: 124,579,012	M1K	probably null	Het
Epc1	A	G	18: 6,448,917	S577P	probably benign	Het
Eps8l1	T	A	7: 4,460,946	I23N	possibly damaging	Het
Etl4	A	G	2: 20,530,226	E164G	probably damaging	Het
Gadl1	A	T	9: 115,937,162	M1L	probably benign	Het
Gda	T	C	19: 21,397,544	D336G	probably damaging	Het
Grm2	A	T	9: 106,650,446	V413D	probably damaging	Het
Hnrnpll	G	T	17: 80,038,622	N403K	probably damaging	Het
Ifit1	T	A	19: 34,647,838	F125I	probably damaging	Het
Igkv5-43	C	T	6: 69,823,908	V2I	probably benign	Het
Kat5	A	C	19: 5,609,479	Y44*	probably null	Het
Klc2	A	G	19: 5,112,856	V205A	probably damaging	Het
Klrb1c	T	A	6: 128,784,743	T133S	possibly damaging	Het
Krt20	A	G	11: 99,435,457	L157P	probably damaging	Het
Krt26	G	T	11: 99,337,771	T45N	possibly damaging	Het
Lama2	C	T	10: 26,990,880	D2873N	probably damaging	Het
Lig1	T	A	7: 13,286,606	C114S	possibly damaging	Het
Lonp1	G	C	17: 56,620,263	A330G	probably benign	Het
Maml2	A	T	9: 13,697,320	R21S	probably damaging	Het
Mrpl35	C	T	6: 71,817,736	V83I	probably benign	Het
Nup153	C	A	13: 46,684,006	E1247*	probably null	Het
Olfr330	A	T	11: 58,529,731	M85K	probably damaging	Het
Pcdhac2	A	G	18: 37,144,204	N79S	probably benign	Het
Pcgf6	C	T	19: 47,047,967	G221D	probably damaging	Het
Phf11b	C	T	14: 59,321,504	D260N	probably benign	Het
Pla2g5	T	C	4: 138,804,610	M28V	possibly damaging	Het
Prpf8	T	C	11: 75,505,101	S1934P	possibly damaging	Het
Prrc2c	T	C	1: 162,673,529	D1235G	probably damaging	Het
Rasgrp2	T	C	19: 6,405,001	S254P	probably damaging	Het
Rassf8	C	T	6: 145,820,181		probably benign	Het
Rgs20	T	A	1: 4,912,443	E167D	probably damaging	Het
Rmnd1	G	T	10: 4,422,159	A180E	probably damaging	Het
Rnf103	A	G	6: 71,510,008	D541G	probably benign	Het
Rpl9	G	T	5: 65,389,125	Q140K	probably benign	Het
Sfmbt1	T	G	14: 30,784,191		probably null	Het
Shank1	C	A	7: 44,312,736	D10E	unknown	Het
Srrm4	G	T	5: 116,449,613		probably benign	Het
Sucla2	T	A	14: 73,595,396	V447E	probably damaging	Het
Tbc1d1	A	G	5: 64,173,712	D78G	probably benign	Het
Tcp1	T	A	17: 12,919,337		probably null	Het
Tctn3	C	A	19: 40,608,917	E230*	probably null	Het
Thsd7b	G	A	1: 130,162,936		probably null	Het
Tmem63a	A	G	1: 180,970,246	M621V	probably benign	Het
Tnxb	A	T	17: 34,717,530	K2756*	probably null	Het
Trpm8	G	A	1: 88,359,651		probably null	Het
Txndc16	C	A	14: 45,135,878	V764F	possibly damaging	Het
Ush2a	A	T	1: 188,759,823	D3103V	possibly damaging	Het
Usp22	A	T	11: 61,158,380	I381N	probably damaging	Het
Zfp462	T	A	4: 55,013,464	M1810K	probably benign	Het
Zfp64	T	A	2: 168,899,968	M347L	possibly damaging	Het
Zfp69	T	C	4: 120,930,522	D532G	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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGGGCAGCATCATTGGAG -3'
(R):5'- AAATCAGCTACCACTGCTCCTTTG -3'

Sequencing Primer
(F):5'- CGAAGGCTTCTCTTGAATGC -3'
(R):5'- TAGAGGTTCACCTACGCT -3'

Posted On

2016-11-08