Mutagenetix > Incidental Mutation

Incidental Mutation 'R1708:Myo3b'

190198

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

039741-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1708 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 70245385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 578 (K578*)

Ref Sequence

ENSEMBL: ENSMUSP00000107862 (fasta)

Gene Model

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

AlphaFold

Q1EG27

Predicted Effect

probably null
Transcript: ENSMUST00000060208
AA Change: K606*

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: K606*

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 null
Transcript: ENSMUST00000112243
AA Change: K578*

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: K578*

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,964,798	I4F	probably benign	Het
9430007A20Rik	T	C	4: 144,519,941	V19A	probably benign	Het
Abca8a	A	T	11: 110,053,102	S1114T	probably damaging	Het
Adgre1	A	T	17: 57,401,974	Y55F	possibly damaging	Het
Alb	A	C	5: 90,464,051	D113A	possibly damaging	Het
Ankrd33b	C	T	15: 31,305,009	R203Q	probably damaging	Het
Aqp6	T	C	15: 99,602,662	V156A	possibly damaging	Het
AU018091	T	C	7: 3,156,344	S616G	probably damaging	Het
Cfd	T	A	10: 79,891,607	D68E	probably benign	Het
Cntn2	C	T	1: 132,519,198	A725T	probably damaging	Het
Copg2	A	C	6: 30,824,377	D373E	probably damaging	Het
Cyp2d11	T	C	15: 82,390,432	T315A	probably benign	Het
Cyp2j13	G	T	4: 96,062,067	N232K	probably damaging	Het
Cyp2j8	A	T	4: 96,499,595	F210I	probably damaging	Het
Dnah9	G	A	11: 65,915,154	T3373M	probably benign	Het
Eif2ak3	A	G	6: 70,887,806	K549E	probably damaging	Het
Epha3	C	T	16: 63,583,507	V744I	probably damaging	Het
Erich6	T	C	3: 58,616,447	S669G	probably benign	Het
Fam90a1a	A	T	8: 21,961,448	K108N	probably damaging	Het
Fat1	G	A	8: 45,024,792	V2292M	probably damaging	Het
Fibp	T	C	19: 5,463,794	C255R	probably null	Het
Fzd1	A	G	5: 4,755,791	V597A	possibly damaging	Het
Gm12790	G	A	4: 101,967,977	A80V	possibly damaging	Het
Gm2381	A	T	7: 42,820,225	N158K	probably benign	Het
Gm6768	A	G	12: 119,262,233		noncoding transcript	Het
Impg2	T	A	16: 56,265,078	D940E	probably benign	Het
Ints1	A	T	5: 139,762,839	V1071E	probably damaging	Het
Kat5	A	T	19: 5,609,479	Y44*	probably null	Het
Kif1c	C	T	11: 70,728,397	L953F	probably damaging	Het
Klra6	A	C	6: 130,022,714	L97*	probably null	Het
Ly6c2	C	T	15: 75,111,620		probably null	Het
Mettl7a3	A	G	15: 100,335,269	N114D	probably damaging	Het
Mon1a	G	A	9: 107,898,718	E12K	probably benign	Het
Myrip	A	T	9: 120,464,774	R778S	possibly damaging	Het
Olfr1260	A	G	2: 89,978,038	R87G	probably benign	Het
Olfr1362	C	T	13: 21,611,070	A300T	probably damaging	Het
Olfr1480	T	C	19: 13,529,913	V80A	probably damaging	Het
Olfr399	G	A	11: 74,053,988	T257I	probably damaging	Het
Olfr503	T	A	7: 108,544,574	F14L	probably benign	Het
Panx3	T	C	9: 37,661,391	I288V	probably benign	Het
Pcdh9	G	A	14: 93,888,305	P143L	probably damaging	Het
Pigc	T	A	1: 161,970,724	S92T	probably benign	Het
Pou3f2	C	A	4: 22,487,255	V293L	possibly damaging	Het
Rbm15	A	G	3: 107,331,220	S621P	probably damaging	Het
Rnf220	T	C	4: 117,489,886	S110G	probably benign	Het
Rnf38	A	T	4: 44,143,593	V115D	probably damaging	Het
Rps6ka2	A	G	17: 7,277,530	H347R	probably damaging	Het
Ryr2	T	C	13: 11,587,442		probably null	Het
Sema4f	G	T	6: 82,917,994	P407T	probably damaging	Het
Setbp1	T	C	18: 78,858,467	T662A	probably damaging	Het
Slc27a1	C	A	8: 71,584,630		probably null	Het
Slc41a2	T	A	10: 83,233,732	I519F	probably damaging	Het
Sntg2	C	T	12: 30,373,180	S17N	possibly damaging	Het
Sptb	A	G	12: 76,612,574	L1184P	probably damaging	Het
Taf5l	G	A	8: 124,009,770	Q21*	probably null	Het
Tbc1d32	A	C	10: 56,151,769	S746A	possibly damaging	Het
Tdrd1	T	G	19: 56,842,289	S251R	probably benign	Het
Thap7	C	T	16: 17,528,950	R121Q	probably benign	Het
Tmem50a	A	G	4: 134,898,468	V146A	probably benign	Het
Tmprss15	T	C	16: 79,054,070	I327V	possibly damaging	Het
Ttc23	T	C	7: 67,667,176	I65T	probably damaging	Het
Vmn1r22	G	T	6: 57,900,496	H165Q	possibly damaging	Het
Vopp1	C	T	6: 57,762,512	R17H	probably damaging	Het
Vwa5a	A	G	9: 38,727,832	K337E	probably benign	Het
Wrap53	G	A	11: 69,563,935	R203*	probably null	Het
Zfp944	T	C	17: 22,339,045	Y407C	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGCTCCCTTACCTGAAGACTC -3'
(R):5'- TGCATTTGAAAACTGTCCTGCAAGC -3'

Sequencing Primer
(F):5'- TCACCAGAGTATTAGCCTGTGAAG -3'
(R):5'- CTAGAAAacacacacacacacac -3'

Posted On

2014-05-14