Mutagenetix > Incidental Mutation

Incidental Mutation 'R9031:Myo3b'

687032

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70251750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 618 (V618A)

Ref Sequence

ENSEMBL: ENSMUSP00000055362 (fasta)

Gene Model

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

AlphaFold

Q1EG27

Predicted Effect

probably damaging
Transcript: ENSMUST00000060208
AA Change: V618A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: V618A

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 damaging
Transcript: ENSMUST00000112243
AA Change: V590A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: V590A

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

0.7268

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,822,027	R921H	probably benign	Het
Adcy5	A	G	16: 35,299,489	I1123V	probably damaging	Het
Agr2	G	C	12: 35,995,566	G17A	probably benign	Het
Akap6	A	T	12: 53,142,048	T2082S	probably benign	Het
Asxl3	G	T	18: 22,524,344	V1804F	probably damaging	Het
Atat1	A	G	17: 35,909,489	V37A	probably benign	Het
Atp1a3	A	T	7: 24,989,787		probably null	Het
Bpifb1	A	G	2: 154,209,928	T218A	probably benign	Het
C030006K11Rik	T	A	15: 76,723,761	Q19L	probably benign	Het
Ccdc138	T	C	10: 58,545,071	F508S	probably damaging	Het
Ccdc81	T	A	7: 89,893,150	M173L	probably benign	Het
Cdhr1	T	C	14: 37,094,019	I141V	probably benign	Het
Chia1	T	C	3: 106,128,461	F206L	probably benign	Het
Clca3a2	C	T	3: 144,805,714	G640E	probably damaging	Het
Clcn7	T	C	17: 25,157,523	V609A	probably damaging	Het
Col22a1	C	A	15: 71,881,674	G126*	probably null	Het
Cpne7	C	T	8: 123,130,212	P402L	probably damaging	Het
Ctcfl	A	T	2: 173,117,251	D227E	probably benign	Het
Cwf19l2	A	G	9: 3,417,942	D134G	probably benign	Het
Cyp2c65	C	A	19: 39,073,219	C216*	probably null	Het
Cyp2d12	T	A	15: 82,559,222	C462S	probably null	Het
Cyp4a12a	A	C	4: 115,332,002	*509Y	probably null	Het
Cyp4a12b	A	G	4: 115,433,668	M298V	probably benign	Het
Dennd4b	T	C	3: 90,270,881	V471A	probably benign	Het
Dlc1	A	G	8: 36,937,901	S245P	possibly damaging	Het
Dnah1	C	T	14: 31,279,171	G2406S	probably benign	Het
Dnah8	A	G	17: 30,737,427	K2127R	probably damaging	Het
Dusp13	G	A	14: 21,740,165	R38C	probably benign	Het
Ebf2	T	A	14: 67,235,145	I4N	probably benign	Het
Fcgbp	A	G	7: 28,091,483	N723S	possibly damaging	Het
Galnt15	T	A	14: 32,048,070	V368E	probably damaging	Het
Garem2	A	G	5: 30,108,264	E42G	possibly damaging	Het
Gcc1	C	T	6: 28,418,183	S717N	probably damaging	Het
Gfm2	T	C	13: 97,172,693		probably null	Het
Gm49333	C	T	16: 20,640,625	P570L	probably damaging	Het
Gpr1	T	C	1: 63,183,986	E30G	probably benign	Het
Helb	T	C	10: 120,084,885	D1051G	possibly damaging	Het
Helz2	T	A	2: 181,232,468	I2078F	possibly damaging	Het
Hsph1	A	T	5: 149,629,805	V297D	probably damaging	Het
Ifnar1	A	G	16: 91,505,191	Y518C	probably benign	Het
Kcnip2	T	A	19: 45,794,771	D153V	probably damaging	Het
Kif15	A	T	9: 123,017,427		probably benign	Het
Kif21b	T	C	1: 136,145,304	F147L	probably damaging	Het
Klhl29	T	C	12: 5,090,537	R702G	probably damaging	Het
Lemd3	C	T	10: 120,931,973	E667K	possibly damaging	Het
Loxl3	T	C	6: 83,035,522	L14P	probably damaging	Het
Lrrd1	A	T	5: 3,850,963	K423*	probably null	Het
Mia2	A	G	12: 59,108,800	D433G	probably damaging	Het
Mpp2	G	T	11: 102,063,273	A216E	probably benign	Het
Mro	T	C	18: 73,876,840		probably null	Het
Mybpc1	T	G	10: 88,523,044	Y1081S	probably damaging	Het
Myh8	T	G	11: 67,299,315	S1260R	possibly damaging	Het
Naip2	T	G	13: 100,178,268	D334A	possibly damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nlrp4c	T	C	7: 6,104,609	*983Q	probably null	Het
Nlrp9a	T	G	7: 26,558,273	F439V	probably damaging	Het
Nploc4	A	T	11: 120,428,542	L64H	probably damaging	Het
Ola1	T	C	2: 73,093,716	E246G	probably benign	Het
Otof	G	A	5: 30,380,188	S1259F	probably benign	Het
Pde4dip	T	C	3: 97,692,359	T2438A	probably damaging	Het
Pex1	A	G	5: 3,636,844	T1242A	probably damaging	Het
Pink1	A	T	4: 138,315,745		probably benign	Het
Prkcq	A	G	2: 11,247,008	T219A	probably damaging	Het
Ptcd3	A	T	6: 71,903,474	Y88*	probably null	Het
Ptpru	A	G	4: 131,788,380	Y888H	probably damaging	Het
Rapgef6	A	G	11: 54,687,841	N1063S	probably benign	Het
Slc1a4	G	A	11: 20,332,532		probably benign	Het
Slc4a4	T	C	5: 89,057,709		probably benign	Het
Slc6a18	A	T	13: 73,671,703	N249K	possibly damaging	Het
Slco2b1	T	G	7: 99,689,007	I104L	probably damaging	Het
Syne3	A	T	12: 104,939,612	S897R	probably benign	Het
Tcrg-V4	C	T	13: 19,184,999	Q7*	probably null	Het
Tmem136	C	T	9: 43,111,369	R230Q	probably benign	Het
Tnni3k	A	G	3: 155,038,509	S69P	probably damaging	Het
Tnpo2	A	G	8: 85,053,534	K700E	probably benign	Het
Top3a	T	C	11: 60,745,869	K657E	probably damaging	Het
Trim6	T	C	7: 104,225,952	L132P	probably damaging	Het
Tshz1	T	C	18: 84,014,862	T474A	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Vmn1r179	A	T	7: 23,928,809	I142L	probably benign	Het
Zbtb2	A	T	10: 4,369,183	F281Y	probably damaging	Het
Zfp318	T	C	17: 46,412,507	V1812A	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
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
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'- ATGCTTAGTGACATCATCGCC -3'
(R):5'- GAAGATGAGTTACAGCTGCACC -3'

Sequencing Primer
(F):5'- TCATCGCCTCTAACTTCAGGAAG -3'
(R):5'- GATGAGTTACAGCTGCACCGTATC -3'

Posted On

2021-11-19