Mutagenetix > Incidental Mutation

Incidental Mutation 'R5468:Myo3b'

433314

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

043029-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5468 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

69869470-70259542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70064785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 406 (N406S)

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: N434S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: N434S

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: N406S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: N406S

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: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	C	T	7: 44,009,659 (GRCm39)	R181Q	probably damaging	Het
Abca13	T	A	11: 9,244,062 (GRCm39)	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,036,443 (GRCm39)	I180N	probably benign	Het
Adam12	T	C	7: 133,577,202 (GRCm39)	D221G	probably damaging	Het
Adamts4	A	G	1: 171,080,178 (GRCm39)	T244A	probably benign	Het
Adrb2	A	T	18: 62,312,696 (GRCm39)	I43N	probably damaging	Het
Anxa1	A	T	19: 20,355,847 (GRCm39)	Y207N	probably damaging	Het
Apba2	T	C	7: 64,395,510 (GRCm39)	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,788,667 (GRCm39)	I593K	probably damaging	Het
Arsj	T	C	3: 126,232,037 (GRCm39)	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,549,986 (GRCm39)		probably null	Het
C2cd2	C	T	16: 97,669,791 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,384,568 (GRCm39)	S2571T	probably damaging	Het
Cep162	A	C	9: 87,109,290 (GRCm39)	L438V	probably benign	Het
Cfap74	A	T	4: 155,510,498 (GRCm39)	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,633 (GRCm39)	I548T	probably damaging	Het
Cracd	A	T	5: 76,988,610 (GRCm39)		probably benign	Het
Dglucy	A	G	12: 100,816,594 (GRCm39)	N382S	probably benign	Het
Dnah10	C	A	5: 124,907,557 (GRCm39)	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,282,937 (GRCm39)	M281L	probably benign	Het
Fam186b	A	G	15: 99,176,751 (GRCm39)	I713T	possibly damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fry	A	T	5: 150,323,053 (GRCm39)	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,493,247 (GRCm39)	I231V	probably benign	Het
Gbf1	A	G	19: 46,272,735 (GRCm39)	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,858,130 (GRCm39)	P5S	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Impg1	T	C	9: 80,347,318 (GRCm39)	I9V	probably benign	Het
Lama4	A	G	10: 38,948,678 (GRCm39)		probably null	Het
Lamc1	A	G	1: 153,109,310 (GRCm39)	S1161P	probably damaging	Het
Lipm	T	A	19: 34,086,954 (GRCm39)		probably null	Het
Lrrc7	G	T	3: 158,024,073 (GRCm39)	N107K	probably damaging	Het
Lypd8	T	C	11: 58,277,586 (GRCm39)	S123P	probably damaging	Het
Man2a2	T	C	7: 80,002,729 (GRCm39)	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,964,519 (GRCm39)	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,299,778 (GRCm39)	C71Y	probably benign	Het
Mtus1	A	G	8: 41,537,615 (GRCm39)	S34P	probably benign	Het
Nbr1	A	T	11: 101,463,290 (GRCm39)	M586L	probably benign	Het
Nfatc1	C	T	18: 80,693,070 (GRCm39)	R677H	probably benign	Het
Nlrc3	A	C	16: 3,781,899 (GRCm39)	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,064,425 (GRCm39)	F968I	probably benign	Het
Onecut1	A	T	9: 74,770,614 (GRCm39)	T346S	probably damaging	Het
Or1j12	A	T	2: 36,343,455 (GRCm39)	N286I	probably damaging	Het
Or8b35	G	A	9: 37,904,307 (GRCm39)	C168Y	probably damaging	Het
Or8g32	A	G	9: 39,305,257 (GRCm39)	N57D	probably benign	Het
Pclo	A	T	5: 14,730,966 (GRCm39)	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,809,072 (GRCm39)	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,355,411 (GRCm39)	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,121,716 (GRCm39)	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,361,952 (GRCm39)	F69L	possibly damaging	Het
Prss27	C	A	17: 24,257,287 (GRCm39)	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,540,020 (GRCm39)	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,339,191 (GRCm39)	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,678,584 (GRCm39)	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,269,471 (GRCm39)	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 4,985,004 (GRCm39)		probably null	Het
Sepsecs	A	T	5: 52,801,356 (GRCm39)	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,936,226 (GRCm39)	K223E	probably benign	Het
Sh3tc2	G	A	18: 62,106,502 (GRCm39)		probably null	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Tmprss7	A	G	16: 45,476,811 (GRCm39)	F817S	probably damaging	Het
Tril	T	C	6: 53,796,632 (GRCm39)	N197D	probably damaging	Het
Tspan18	T	C	2: 93,040,207 (GRCm39)	T183A	probably benign	Het
Uroc1	A	T	6: 90,315,586 (GRCm39)	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,160 (GRCm39)	V196A	probably benign	Het
Xpnpep1	A	G	19: 52,983,950 (GRCm39)	Y592H	probably benign	Het
Zfp553	T	C	7: 126,836,202 (GRCm39)	S586P	probably benign	Het
Zfp619	C	T	7: 39,185,152 (GRCm39)	A394V	unknown	Het
Zfp985	A	G	4: 147,667,702 (GRCm39)	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,427,536 (GRCm39)	D309E	probably benign	Het
Zmynd15	T	C	11: 70,352,646 (GRCm39)	L73P	probably damaging	Het

Other mutations in Myo3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Myo3b	APN	2	69,935,989 (GRCm39)	splice site	probably benign
IGL00959:Myo3b	APN	2	70,144,636 (GRCm39)	missense	probably damaging	1.00
IGL01069:Myo3b	APN	2	70,075,735 (GRCm39)	missense	probably benign	0.22
IGL01116:Myo3b	APN	2	70,119,730 (GRCm39)	missense	probably damaging	1.00
IGL02097:Myo3b	APN	2	70,069,173 (GRCm39)	missense	probably damaging	1.00
IGL02220:Myo3b	APN	2	70,119,923 (GRCm39)	splice site	probably benign
IGL02553:Myo3b	APN	2	69,925,568 (GRCm39)	missense	probably benign	0.00
IGL02557:Myo3b	APN	2	70,085,663 (GRCm39)	missense	probably benign	0.16
IGL02648:Myo3b	APN	2	69,935,716 (GRCm39)	splice site	probably benign
IGL02902:Myo3b	APN	2	70,119,745 (GRCm39)	missense	probably benign	0.36
IGL02981:Myo3b	APN	2	69,938,969 (GRCm39)	missense	probably damaging	1.00
IGL03030:Myo3b	APN	2	70,257,160 (GRCm39)	splice site	probably benign
IGL03031:Myo3b	APN	2	70,085,721 (GRCm39)	missense	possibly damaging	0.64
IGL03068:Myo3b	APN	2	70,257,160 (GRCm39)	splice site	probably benign
IGL03078:Myo3b	APN	2	70,117,335 (GRCm39)	missense	probably damaging	1.00
IGL03224:Myo3b	APN	2	70,180,283 (GRCm39)	missense	probably benign
IGL03329:Myo3b	APN	2	70,084,803 (GRCm39)	missense	probably damaging	1.00
R0079:Myo3b	UTSW	2	69,925,502 (GRCm39)	missense	possibly damaging	0.58
R0226:Myo3b	UTSW	2	70,047,510 (GRCm39)	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0313:Myo3b	UTSW	2	70,179,303 (GRCm39)	nonsense	probably null
R0331:Myo3b	UTSW	2	69,925,605 (GRCm39)	missense	probably damaging	1.00
R0371:Myo3b	UTSW	2	70,083,304 (GRCm39)	splice site	probably benign
R0442:Myo3b	UTSW	2	70,069,305 (GRCm39)	critical splice donor site	probably null
R0964:Myo3b	UTSW	2	70,257,193 (GRCm39)	missense	probably damaging	1.00
R1217:Myo3b	UTSW	2	70,161,224 (GRCm39)	missense	probably benign	0.02
R1429:Myo3b	UTSW	2	70,083,351 (GRCm39)	missense	probably damaging	0.97
R1460:Myo3b	UTSW	2	70,062,798 (GRCm39)	missense	probably benign	0.31
R1617:Myo3b	UTSW	2	70,111,562 (GRCm39)	missense	probably benign	0.00
R1628:Myo3b	UTSW	2	70,117,306 (GRCm39)	missense	probably benign	0.01
R1708:Myo3b	UTSW	2	70,075,729 (GRCm39)	nonsense	probably null
R1940:Myo3b	UTSW	2	70,088,419 (GRCm39)	missense	probably benign	0.01
R2407:Myo3b	UTSW	2	70,085,597 (GRCm39)	missense	probably damaging	1.00
R3081:Myo3b	UTSW	2	70,086,927 (GRCm39)	splice site	probably benign
R3687:Myo3b	UTSW	2	70,075,658 (GRCm39)	missense	probably benign
R3745:Myo3b	UTSW	2	70,064,829 (GRCm39)	splice site	probably benign
R4011:Myo3b	UTSW	2	69,926,720 (GRCm39)	missense	probably benign	0.15
R4074:Myo3b	UTSW	2	70,119,808 (GRCm39)	missense	probably damaging	1.00
R4419:Myo3b	UTSW	2	69,926,706 (GRCm39)	missense	probably damaging	1.00
R4496:Myo3b	UTSW	2	70,084,748 (GRCm39)	missense	probably benign
R4539:Myo3b	UTSW	2	69,869,491 (GRCm39)	start codon destroyed	probably null	0.00
R4643:Myo3b	UTSW	2	70,069,186 (GRCm39)	missense	possibly damaging	0.49
R4657:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
R4807:Myo3b	UTSW	2	69,936,056 (GRCm39)	missense	probably damaging	1.00
R4849:Myo3b	UTSW	2	70,075,253 (GRCm39)	missense	probably damaging	0.98
R4997:Myo3b	UTSW	2	70,088,427 (GRCm39)	missense	possibly damaging	0.49
R5008:Myo3b	UTSW	2	70,088,412 (GRCm39)	missense	probably damaging	0.99
R5070:Myo3b	UTSW	2	70,083,456 (GRCm39)	missense	probably damaging	1.00
R5072:Myo3b	UTSW	2	69,925,593 (GRCm39)	missense	possibly damaging	0.96
R5082:Myo3b	UTSW	2	70,088,374 (GRCm39)	missense	probably benign	0.01
R5103:Myo3b	UTSW	2	69,926,747 (GRCm39)	missense	probably benign	0.08
R5109:Myo3b	UTSW	2	69,925,637 (GRCm39)	missense	possibly damaging	0.66
R5304:Myo3b	UTSW	2	70,257,232 (GRCm39)	missense	probably damaging	0.97
R5396:Myo3b	UTSW	2	69,957,329 (GRCm39)	missense	probably damaging	0.99
R5400:Myo3b	UTSW	2	69,935,724 (GRCm39)	missense	probably damaging	1.00
R5620:Myo3b	UTSW	2	70,069,254 (GRCm39)	missense	probably benign	0.04
R5646:Myo3b	UTSW	2	70,144,774 (GRCm39)	missense	probably damaging	0.97
R5729:Myo3b	UTSW	2	69,936,083 (GRCm39)	missense	probably damaging	1.00
R5943:Myo3b	UTSW	2	70,117,285 (GRCm39)	missense	probably benign	0.03
R5971:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
R6091:Myo3b	UTSW	2	70,069,113 (GRCm39)	missense	probably benign	0.00
R6138:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
R6164:Myo3b	UTSW	2	70,075,754 (GRCm39)	critical splice donor site	probably null
R6177:Myo3b	UTSW	2	70,143,707 (GRCm39)	missense	probably benign	0.00
R6421:Myo3b	UTSW	2	70,143,700 (GRCm39)	missense	probably benign	0.02
R6478:Myo3b	UTSW	2	70,179,304 (GRCm39)	missense	probably benign
R6606:Myo3b	UTSW	2	70,062,829 (GRCm39)	missense	possibly damaging	0.94
R6752:Myo3b	UTSW	2	70,119,856 (GRCm39)	missense	probably damaging	1.00
R6982:Myo3b	UTSW	2	70,256,409 (GRCm39)	missense	probably benign	0.02
R6997:Myo3b	UTSW	2	69,957,329 (GRCm39)	missense	probably damaging	0.99
R7032:Myo3b	UTSW	2	69,925,608 (GRCm39)	missense	probably damaging	0.98
R7038:Myo3b	UTSW	2	69,925,552 (GRCm39)	missense	probably benign	0.00
R7062:Myo3b	UTSW	2	70,047,501 (GRCm39)	missense	probably benign	0.00
R7537:Myo3b	UTSW	2	70,047,513 (GRCm39)	missense	probably benign	0.01
R7861:Myo3b	UTSW	2	69,939,032 (GRCm39)	missense	probably damaging	1.00
R7955:Myo3b	UTSW	2	69,925,623 (GRCm39)	missense	probably benign	0.37
R7977:Myo3b	UTSW	2	70,161,277 (GRCm39)	missense	probably benign
R7978:Myo3b	UTSW	2	70,083,458 (GRCm39)	missense	probably damaging	1.00
R7987:Myo3b	UTSW	2	70,161,277 (GRCm39)	missense	probably benign
R8803:Myo3b	UTSW	2	70,083,338 (GRCm39)	missense	probably benign
R8843:Myo3b	UTSW	2	70,088,325 (GRCm39)	missense	probably damaging	1.00
R8896:Myo3b	UTSW	2	70,069,160 (GRCm39)	missense	probably damaging	1.00
R8904:Myo3b	UTSW	2	70,257,252 (GRCm39)	missense	probably benign	0.07
R8909:Myo3b	UTSW	2	70,083,440 (GRCm39)	missense	probably damaging	1.00
R9031:Myo3b	UTSW	2	70,082,094 (GRCm39)	missense	probably damaging	0.99
R9052:Myo3b	UTSW	2	70,062,747 (GRCm39)	missense	probably benign	0.00
R9251:Myo3b	UTSW	2	70,088,425 (GRCm39)	nonsense	probably null
R9268:Myo3b	UTSW	2	70,257,305 (GRCm39)	makesense	probably null
R9334:Myo3b	UTSW	2	70,047,360 (GRCm39)	missense	probably damaging	1.00
R9377:Myo3b	UTSW	2	70,069,242 (GRCm39)	missense	possibly damaging	0.78
R9457:Myo3b	UTSW	2	69,925,553 (GRCm39)	missense	probably benign	0.01
R9520:Myo3b	UTSW	2	70,062,753 (GRCm39)	missense	possibly damaging	0.67
R9593:Myo3b	UTSW	2	70,075,648 (GRCm39)	missense	probably benign	0.43
R9671:Myo3b	UTSW	2	70,086,908 (GRCm39)	missense	probably damaging	1.00
R9790:Myo3b	UTSW	2	70,180,287 (GRCm39)	missense	probably benign	0.35
R9791:Myo3b	UTSW	2	70,180,287 (GRCm39)	missense	probably benign	0.35
U15987:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
X0025:Myo3b	UTSW	2	70,062,747 (GRCm39)	missense	probably benign	0.00
X0065:Myo3b	UTSW	2	70,088,313 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo3b	UTSW	2	70,088,371 (GRCm39)	missense	probably benign	0.01
Z1177:Myo3b	UTSW	2	69,926,705 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCCCTAAGGTGAAAAGCC -3'
(R):5'- TGTTATGTCTCCCAAAAGGGTC -3'

Sequencing Primer
(F):5'- CCCTAAGGTGAAAAGCCTTGTTTTTC -3'
(R):5'- AAAAGGGTCTTCTCCTTCTCAGG -3'

Posted On

2016-10-06