Mutagenetix > Incidental Mutation

Incidental Mutation 'R5109:Myo3b'

393716

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

042697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5109 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70095293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 35 (K35E)

Ref Sequence

ENSEMBL: ENSMUSP00000107862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060208] [ENSMUST00000112241] [ENSMUST00000112243]

AlphaFold

Q1EG27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060208
AA Change: K63E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: K63E

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

SMART Domains

Protein: ENSMUSP00000107860
Gene: ENSMUSG00000042064

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

possibly damaging
Transcript: ENSMUST00000112243
AA Change: K35E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: K35E

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

0.5455

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

95% (78/82)

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
Ankrd17	T	C	5: 90,243,536	S1841G	possibly damaging	Het
Anxa10	T	C	8: 62,063,059	E193G	possibly damaging	Het
Ap3d1	T	C	10: 80,709,450	S1056G	probably benign	Het
Apbb1	T	C	7: 105,565,035	N62D	probably damaging	Het
Apobec2	A	T	17: 48,422,994	Y215N	probably damaging	Het
Apobec2	T	A	17: 48,422,996	Y214F	probably damaging	Het
Appl2	A	T	10: 83,601,007	V630E	probably benign	Het
Bud23	T	C	5: 135,061,023		probably benign	Het
Cacna1b	A	T	2: 24,690,785	M683K	possibly damaging	Het
Cbfa2t2	T	A	2: 154,531,373	D187E	probably damaging	Het
Cfap54	G	T	10: 92,937,891	F96L	probably benign	Het
Crebbp	A	G	16: 4,088,431		probably benign	Het
Crocc	C	T	4: 141,028,411	R1102Q	probably damaging	Het
Dcaf12	T	C	4: 41,298,329	D273G	possibly damaging	Het
Dchs1	T	C	7: 105,765,014	T865A	probably benign	Het
Dhfr	A	T	13: 92,355,280	I8F	probably damaging	Het
Dnaja2	A	T	8: 85,553,258	F97L	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Doc2b	T	C	11: 75,777,141	D261G	probably benign	Het
Ear1	A	G	14: 43,819,028	Y128H	probably benign	Het
Elac2	T	A	11: 64,992,316	I171N	probably damaging	Het
Entpd3	C	A	9: 120,566,314	N454K	possibly damaging	Het
Flrt3	A	G	2: 140,660,743	S322P	possibly damaging	Het
Fn1	C	T	1: 71,649,235	C170Y	probably damaging	Het
Gabbr1	T	A	17: 37,072,028		probably benign	Het
Gm597	T	C	1: 28,777,555	I465M	possibly damaging	Het
Gm7247	T	G	14: 51,365,317	S37A	probably damaging	Het
Gm8775	T	A	3: 4,211,948		noncoding transcript	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Gria4	A	C	9: 4,472,168	N440K	probably damaging	Het
H2-T22	T	A	17: 36,039,221	R334*	probably null	Het
Ift172	T	C	5: 31,265,986	D817G	probably benign	Het
Igkv9-124	T	A	6: 67,942,364	R21S	possibly damaging	Het
Itgam	G	A	7: 128,113,218	V846I	probably benign	Het
Kif11	T	A	19: 37,384,615	M94K	possibly damaging	Het
Krtcap2	T	C	3: 89,246,778	V2A	probably benign	Het
Lrrc47	A	G	4: 154,017,476	D400G	probably damaging	Het
Man2a1	T	A	17: 64,752,448	V1110E	probably benign	Het
Mfsd9	T	A	1: 40,774,205	I317F	probably damaging	Het
Mindy4	A	T	6: 55,216,745		probably null	Het
Mrpl53	A	G	6: 83,109,560	T82A	probably damaging	Het
Nalcn	A	G	14: 123,278,238	V1717A	possibly damaging	Het
Ncoa2	A	G	1: 13,186,846	V143A	probably damaging	Het
Ndufa9	A	C	6: 126,832,557		probably null	Het
Odf3	A	T	7: 140,849,548	S197C	probably benign	Het
Olfr1014	G	A	2: 85,777,324	V247M	probably damaging	Het
Olfr1121	A	G	2: 87,371,534	M1V	probably null	Het
Olfr1130	G	A	2: 87,607,411	A8T	possibly damaging	Het
Olfr1130	G	A	2: 87,607,975	G196R	possibly damaging	Het
Olfr181	A	G	16: 58,926,059	S171P	probably benign	Het
Olfr476	T	C	7: 107,967,897	S167P	probably benign	Het
Olfr771	T	C	10: 129,160,237	Y249C	probably damaging	Het
Olfr846	A	T	9: 19,361,142	I71N	probably damaging	Het
Pde4b	G	T	4: 102,601,544	A466S	probably damaging	Het
Pfkfb3	A	T	2: 11,486,351		probably benign	Het
Ppp1r21	A	G	17: 88,558,840	K355E	probably damaging	Het
Psme4	T	A	11: 30,791,095	Y90*	probably null	Het
Rbms1	G	A	2: 60,781,940	L161F	probably damaging	Het
Rdh16f2	A	G	10: 127,866,803	D83G	probably damaging	Het
Sec16b	C	T	1: 157,564,791	R910*	probably null	Het
Sema4c	CTGGGCTT	C	1: 36,552,300		probably null	Het
Stambp	A	G	6: 83,563,821		probably null	Het
Tcf21	T	C	10: 22,819,659	N82S	probably damaging	Het
Tlr2	A	T	3: 83,837,723	V351D	probably damaging	Het
Tmem39a	G	A	16: 38,590,964	G359D	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Vmn2r17	C	A	5: 109,429,476	F464L	probably benign	Het
Vmn2r49	T	A	7: 9,976,277	T843S	probably benign	Het
Vmn2r7	T	C	3: 64,690,667	D823G	probably null	Het
Wrnip1	T	A	13: 32,816,336	L442Q	probably damaging	Het
Zbtb38	G	T	9: 96,687,009	S674Y	probably damaging	Het
Zfp639	T	G	3: 32,520,436		probably null	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
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'- TCTGTTTCAGAAGCTCATGACC -3'
(R):5'- AAGTCTTTTCTTCAGAGGTCCTG -3'

Sequencing Primer
(F):5'- GAAGCTCATGACCTTTAATCCAGCG -3'
(R):5'- CTGACGAACCAGGATTCATCTTGAG -3'

Posted On

2016-06-15