Mutagenetix > Incidental Mutation

Incidental Mutation 'R5103:Myo3b'

392460

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

042691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70096403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 65 (F65I)

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: F93I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: F93I

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
AA Change: F14I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107860
Gene: ENSMUSG00000042064
AA Change: F14I

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: F65I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: F65I

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

Meta Mutation Damage Score

0.1389

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

99% (82/83)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	A	G	18: 12,189,262	I591V	probably benign	Het
Agbl5	G	A	5: 30,894,001	R518H	probably damaging	Het
Agfg1	T	C	1: 82,893,567	S486P	probably damaging	Het
Arhgap18	A	G	10: 26,869,982	D283G	probably damaging	Het
Asb1	A	G	1: 91,552,344	N162S	possibly damaging	Het
BC037034	A	G	5: 138,262,300	V288A	probably benign	Het
Capn1	A	G	19: 6,009,110	Y274H	probably damaging	Het
Cdk5	A	T	5: 24,422,835	V30E	probably damaging	Het
Cep290	T	G	10: 100,539,020	L1376W	probably damaging	Het
Crybg1	T	A	10: 43,997,948	T1055S	probably damaging	Het
Cyp2c70	A	G	19: 40,160,632	Y357H	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180		probably null	Het
Eml6	T	A	11: 29,850,905	E367V	possibly damaging	Het
Emp1	A	G	6: 135,381,075	T140A	probably benign	Het
Ergic3	T	C	2: 156,008,625	V74A	probably benign	Het
Fancm	A	T	12: 65,105,858	L1029F	probably damaging	Het
Fank1	C	A	7: 133,876,841	C210*	probably null	Het
Fbxo31	T	C	8: 121,552,362	D462G	probably damaging	Het
Frem1	G	A	4: 82,991,612	A736V	probably benign	Het
Fshr	T	C	17: 89,097,368	T56A	possibly damaging	Het
Gm5901	A	T	7: 105,377,382		probably null	Het
Gm8909	T	C	17: 36,161,685		probably benign	Het
Golga2	A	G	2: 32,303,746	E458G	probably benign	Het
Grik2	T	A	10: 49,496,109	I335F	probably benign	Het
Grin1	T	A	2: 25,310,421	M230L	probably benign	Het
Gtf2f1	C	T	17: 57,004,519	G297D	probably damaging	Het
Hacd1	T	C	2: 14,040,913	T136A	probably damaging	Het
Hdac5	T	A	11: 102,196,283	S24C	probably damaging	Het
Jtb	T	C	3: 90,232,087		probably benign	Het
Kif1a	C	T	1: 93,046,696	G979E	probably damaging	Het
Mark2	T	C	19: 7,284,503	M345V	probably damaging	Het
Mfsd14b	A	G	13: 65,087,093	V90A	possibly damaging	Het
Micu1	T	C	10: 59,788,984	Y283H	possibly damaging	Het
Mmp2	C	T	8: 92,831,785	R161*	probably null	Het
Mrpl2	G	A	17: 46,650,038	R286Q	probably benign	Het
Msh5	T	C	17: 35,029,239	I783V	possibly damaging	Het
Nat10	C	A	2: 103,757,260	V37L	probably damaging	Het
Nlrp1a	T	A	11: 71,099,526	T967S	probably damaging	Het
Nolc1	A	T	19: 46,081,664	K291*	probably null	Het
Olfr135	A	C	17: 38,208,317	E24A	possibly damaging	Het
Olfr347	A	T	2: 36,734,668	T116S	probably benign	Het
Olfr52	C	A	2: 86,181,616	R165L	probably benign	Het
Olfr926	G	T	9: 38,877,576	M133I	probably damaging	Het
Paip1	A	G	13: 119,437,979	E70G	possibly damaging	Het
Palmd	T	A	3: 116,927,421	E127V	probably damaging	Het
Paqr6	T	A	3: 88,367,717	C262*	probably null	Het
Pdcd11	A	G	19: 47,124,454	H1301R	probably benign	Het
Plce1	C	A	19: 38,767,215	D1896E	probably damaging	Het
Ppib	A	G	9: 66,061,465		probably null	Het
Pzp	C	T	6: 128,502,229	V654M	probably benign	Het
Rab26	T	C	17: 24,534,097		probably benign	Het
Recql4	A	G	15: 76,706,756	L468P	probably damaging	Het
Retreg1	C	T	15: 25,968,454	Q65*	probably null	Het
Rhpn1	C	T	15: 75,714,215	T659I	possibly damaging	Het
Slc12a5	C	A	2: 164,992,433	H791Q	probably damaging	Het
Slc40a1	G	A	1: 45,918,995	Q93*	probably null	Het
Slc4a1	T	C	11: 102,353,261	M681V	possibly damaging	Het
Slc6a9	T	A	4: 117,868,155	F493L	probably benign	Het
Smc2	A	G	4: 52,459,033	E476G	probably damaging	Het
Smco4	G	T	9: 15,544,794	E59*	probably null	Het
Sparcl1	C	T	5: 104,085,763	M573I	probably damaging	Het
Stat4	T	A	1: 52,071,895	L167Q	probably damaging	Het
Sult1e1	C	A	5: 87,576,232	V289L	probably benign	Het
Tbc1d4	C	A	14: 101,458,882	E877*	probably null	Het
Tenm4	A	T	7: 96,842,957	I1033F	probably damaging	Het
Tppp2	T	A	14: 51,919,452	F95L	probably benign	Het
Vmn2r41	G	A	7: 8,138,342	L708F	probably benign	Het
Washc5	G	A	15: 59,350,169	P126L	probably damaging	Het
Xkr4	T	C	1: 3,670,688	I221V	probably benign	Het
Xkr5	T	C	8: 18,933,643	R628G	probably benign	Het
Zfp207	T	C	11: 80,391,910	L233P	probably damaging	Het
Zfp827	T	A	8: 79,070,403	C373S	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
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'- AGTCCAGTGTAGTGGTGCAC -3'
(R):5'- TTAAGGAGGAACGGACTTCTCC -3'

Sequencing Primer
(F):5'- GCACACTTGTAATTCAAACTCTTGGG -3'
(R):5'- GAGGAACGGACTTCTCCAACCTG -3'

Posted On

2016-06-15