Mutagenetix > Incidental Mutation

Incidental Mutation 'R5943:Myo3b'

460388

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

044135-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5943 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70286941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 906 (R906Q)

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: R934Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: R934Q

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: R906Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: R906Q

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	A	17: 45,517,711	Q671K	probably benign	Het
Acaa2	A	G	18: 74,792,382	H72R	probably damaging	Het
Acad8	A	G	9: 26,999,444	L18P	probably benign	Het
Acap3	T	C	4: 155,899,422	V115A	possibly damaging	Het
Adamts9	T	C	6: 92,903,786	T503A	probably benign	Het
Adcy1	T	C	11: 7,161,337	F876S	probably damaging	Het
Adgrv1	T	C	13: 81,386,866	E5760G	probably damaging	Het
Ankrd26	A	T	6: 118,505,746	I1631K	probably damaging	Het
Ccdc150	A	G	1: 54,300,367	T457A	probably benign	Het
Cd163	T	C	6: 124,329,602	*1160R	probably null	Het
Cdc6	T	C	11: 98,920,763	S517P	probably damaging	Het
Cenpf	A	T	1: 189,659,969	D555E	possibly damaging	Het
Clcn1	T	A	6: 42,292,966	I241N	probably damaging	Het
Clrn2	A	T	5: 45,463,719	I152F	probably benign	Het
Col4a4	A	G	1: 82,525,016	I349T	unknown	Het
Coq8b	T	A	7: 27,234,003	F96L	probably damaging	Het
Cp	A	T	3: 19,964,306	N58I	probably benign	Het
Dcst1	A	T	3: 89,356,411		probably null	Het
Dhrs3	A	T	4: 144,919,976	M199L	possibly damaging	Het
Dido1	A	T	2: 180,661,882	S1410T	probably benign	Het
Dnase1l2	C	T	17: 24,442,747	A13T	probably damaging	Het
Duox1	G	A	2: 122,333,435	R861Q	probably benign	Het
Eya2	A	G	2: 165,724,689	H220R	probably damaging	Het
Fas	T	G	19: 34,320,587		probably null	Het
Fezf1	T	A	6: 23,246,949	K295*	probably null	Het
Gldn	T	G	9: 54,338,437	I424R	possibly damaging	Het
Gm9047	T	A	6: 29,471,909	L128Q	possibly damaging	Het
Gnptab	T	C	10: 88,433,514	V693A	probably benign	Het
Gsdma	A	T	11: 98,673,026	T269S	probably benign	Het
Hectd4	A	T	5: 121,322,294	T2209S	probably benign	Het
Hoxd3	A	G	2: 74,746,829	N351S	probably benign	Het
Itpkc	T	A	7: 27,212,979	N581I	possibly damaging	Het
Kank3	G	T	17: 33,818,401	E226D	probably damaging	Het
Krtap5-1	A	G	7: 142,297,051	S7P	unknown	Het
Lrriq3	A	G	3: 155,163,950	Y304C	probably damaging	Het
Man2a1	A	G	17: 64,625,380	K154R	probably benign	Het
Mdn1	T	C	4: 32,678,330	S653P	probably damaging	Het
Mri1	A	T	8: 84,254,319	L194*	probably null	Het
Mtus1	T	C	8: 41,084,265	E138G	probably benign	Het
Nckipsd	C	T	9: 108,812,236	P199S	possibly damaging	Het
Olfr1504	C	T	19: 13,887,752	V153I	possibly damaging	Het
Olfr669	T	A	7: 104,938,643	I39N	possibly damaging	Het
Pacsin1	T	C	17: 27,706,071	L253P	probably damaging	Het
Pcca	T	A	14: 122,658,776	I268N	probably damaging	Het
Pcdhga8	A	G	18: 37,816,512	D327G	probably damaging	Het
Pcnx4	A	G	12: 72,579,458	H1146R	probably damaging	Het
Pnmal2	T	C	7: 16,946,437	S449P	probably benign	Het
Psmb9	T	C	17: 34,184,291	E61G	probably damaging	Het
Pxylp1	A	G	9: 96,839,150	Y101H	probably damaging	Het
Radil	A	G	5: 142,485,458	I1044T	probably damaging	Het
Rnf43	G	A	11: 87,731,735	R554H	probably damaging	Het
Sp5	A	T	2: 70,475,315	Q17L	probably null	Het
Strn	C	A	17: 78,669,847	V211F	probably damaging	Het
Sult3a1	A	G	10: 33,866,641	D88G	probably damaging	Het
Trim14	T	C	4: 46,522,136	I180M	probably benign	Het
Tsnax	C	A	8: 125,024,539	S90*	probably null	Het
Ttn	A	G	2: 76,968,436	M498T	probably benign	Het
Vmn1r198	T	A	13: 22,355,197	Y195*	probably null	Het
Vmn2r70	T	C	7: 85,565,991	T112A	probably benign	Het
Wdr66	A	G	5: 123,286,357	T205A	probably benign	Het
Wwc2	T	C	8: 47,990,102	N32S	possibly damaging	Het
Yme1l1	G	T	2: 23,168,330	R158L	probably damaging	Het
Zc2hc1c	C	A	12: 85,289,709	H47N	probably damaging	Het
Zc3h10	C	A	10: 128,545,527		probably benign	Het
Zfp825	T	C	13: 74,480,888	R170G	probably benign	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
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'- AATGTCTTTCAGAAGTCTCCTCAC -3'
(R):5'- TCATTGTCTGGACCTCAAAGG -3'

Sequencing Primer
(F):5'- CAGTGTACCCAGTTATGTCCTAAAC -3'
(R):5'- CCCATGGGTCACATATTTGAATGCG -3'

Posted On

2017-02-28