Mutagenetix > Incidental Mutation

Incidental Mutation 'R9251:Myo3b'

701527

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 70258081 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 896 (L896*)

Ref Sequence

ENSEMBL: ENSMUSP00000055362 (fasta)

Gene Model

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

AlphaFold

Q1EG27

Predicted Effect

probably null
Transcript: ENSMUST00000060208
AA Change: L896*

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: L896*

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: L868*

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: L868*

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

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
Arhgap31	G	T	16: 38,602,856	N949K	probably benign	Het
Arv1	T	A	8: 124,725,323	I76N	probably damaging	Het
Cfap44	G	A	16: 44,408,913	A189T	probably damaging	Het
Ch25h	T	C	19: 34,474,369	Y253C	probably damaging	Het
Cnot11	T	C	1: 39,542,506	M376T	probably damaging	Het
Cnot7	T	C	8: 40,511,581		probably benign	Het
Dnah17	G	A	11: 118,121,792	S481F	probably benign	Het
Dnah2	C	T	11: 69,515,793	R541Q	probably damaging	Het
Dnah7a	C	T	1: 53,582,512	M1151I	probably damaging	Het
Dpf2	T	C	19: 5,907,138	D19G	probably damaging	Het
Eefsec	A	T	6: 88,355,592	M212K	probably damaging	Het
Elp6	G	A	9: 110,305,598	V12I	unknown	Het
Enox1	G	A	14: 77,615,557		probably null	Het
Epha1	G	T	6: 42,364,843	N424K	probably damaging	Het
Fam171a1	T	C	2: 3,225,488	S553P	probably benign	Het
Fbxw21	A	G	9: 109,145,619	S278P	probably damaging	Het
Gm45861	T	C	8: 27,542,561		probably null	Het
Gm4846	T	A	1: 166,483,738	R517S	probably benign	Het
Gnrhr	A	G	5: 86,197,362	L155P	possibly damaging	Het
Igfn1	C	T	1: 135,966,671		probably benign	Het
Ik	T	A	18: 36,747,442		probably null	Het
Insrr	A	T	3: 87,810,084	Q763L	probably benign	Het
Klf5	G	T	14: 99,301,388	C79F	possibly damaging	Het
Lrrcc1	A	T	3: 14,558,394	R760S	probably damaging	Het
Map3k7	T	A	4: 32,002,080		probably benign	Het
Mapkbp1	C	T	2: 120,023,190	A1159V	probably benign	Het
Mgst3	C	T	1: 167,378,291		probably null	Het
Mtch2	T	A	2: 90,849,636	F71I	probably damaging	Het
Myo1e	A	G	9: 70,368,794	I764V	probably benign	Het
Ndufs5	T	G	4: 123,712,835	E103A	probably benign	Het
Nfe2l1	G	A	11: 96,819,595	P603S	probably damaging	Het
Olfr801	T	A	10: 129,670,111	N136I	possibly damaging	Het
Olfr954	A	T	9: 39,462,372	M311L	probably benign	Het
Piezo1	T	C	8: 122,492,615	N1093S		Het
Pitpnb	G	A	5: 111,385,524	R258H	probably benign	Het
Pla2g4d	T	C	2: 120,268,897	E708G	possibly damaging	Het
Plppr4	T	A	3: 117,321,959	T750S	probably benign	Het
Prrg4	T	G	2: 104,845,054	E68A	probably damaging	Het
Rcan2	C	T	17: 44,017,810	T90M	possibly damaging	Het
Rlbp1	T	C	7: 79,377,345	E189G	probably damaging	Het
Satb1	A	G	17: 51,805,265	F107S	probably damaging	Het
Sdc3	A	T	4: 130,821,202		probably benign	Het
Slc22a3	A	T	17: 12,507,206	V40D	probably damaging	Het
Slc35d1	A	G	4: 103,190,830		probably null	Het
Slfn1	T	C	11: 83,121,295	F79S	probably damaging	Het
Snrpg	G	T	6: 86,376,575	V46L	probably benign	Het
Tbl1xr1	G	A	3: 22,210,405	C508Y	probably benign	Het
Thada	A	T	17: 84,231,136	D1481E	probably benign	Het
Tnfsf8	A	G	4: 63,860,980	V27A	probably benign	Het
Tns1	T	C	1: 73,991,696	H300R	probably damaging	Het
Ttc13	C	A	8: 124,675,253	G589V	probably benign	Het
Ttc28	A	G	5: 110,892,832	I29V	possibly damaging	Het
Tubb4a	T	A	17: 57,080,778	N416I	possibly damaging	Het
Ubr4	T	A	4: 139,450,325	I1884N		Het
Usp16	A	G	16: 87,469,752	K175E	probably benign	Het
Usp24	A	G	4: 106,360,518	I479M	probably benign	Het
Utrn	T	C	10: 12,636,787	T2313A	probably benign	Het
Ythdc2	T	C	18: 44,841,375	V368A	probably benign	Het
Zfp628	T	C	7: 4,920,881	S701P	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
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
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'- TATATCCAGTTGCCGGGCAG -3'
(R):5'- CCCTGACCCTGGTTAAAGTTC -3'

Sequencing Primer
(F):5'- AGTGGCTCCTCAGACAGC -3'
(R):5'- GCTCCTGCAAAGGATTCAGG -3'

Posted On

2022-03-25