Mutagenetix > Incidental Mutation

Incidental Mutation 'R5008:Myo3b'

390262

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

042599-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5008 (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 70258068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 892 (F892I)

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: F892I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: F892I

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: F864I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: F864I

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

0.1982

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (73/75)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,578,767	T242R	probably damaging	Het
2310057N15Rik	A	G	16: 88,773,775	Y126H	probably damaging	Het
Catsperg1	A	T	7: 29,195,434	Y579*	probably null	Het
Chchd5	A	T	2: 129,130,399		probably null	Het
Chd1l	T	C	3: 97,583,908	N423D	probably damaging	Het
Cntnap1	G	A	11: 101,188,741	W1268*	probably null	Het
Col2a1	G	A	15: 97,979,669	A1011V	probably benign	Het
Cst11	A	G	2: 148,770,405	I104T	probably benign	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Dnah17	A	G	11: 118,110,577	F847L	probably benign	Het
Dspp	A	T	5: 104,175,573	H194L	possibly damaging	Het
Dyx1c1	T	C	9: 72,972,318		probably benign	Het
Frmd5	C	A	2: 121,548,860	R414L	probably damaging	Het
Galnt3	C	A	2: 66,085,241	R592L	probably benign	Het
Gm13128	A	G	4: 144,331,266	S148G	probably benign	Het
Gm38706	T	A	6: 130,484,617		noncoding transcript	Het
Gm38706	T	A	6: 130,485,020		noncoding transcript	Het
Hivep3	A	G	4: 120,098,917	K1477E	probably benign	Het
Igsf3	C	T	3: 101,450,917	T708M	probably damaging	Het
Ikzf4	T	G	10: 128,641,250	E64A	probably benign	Het
Klhl28	C	T	12: 64,957,227	E171K	probably damaging	Het
Krt83	T	A	15: 101,491,224	I76F	probably damaging	Het
Lat2	A	G	5: 134,603,137	V152A	probably benign	Het
Lrp12	C	T	15: 39,878,456	D288N	probably damaging	Het
Mdp1	C	T	14: 55,659,226	R126Q	probably damaging	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Muc6	G	A	7: 141,639,559		probably benign	Het
Myh4	T	A	11: 67,253,532	S1243T	probably benign	Het
Nckap5l	T	C	15: 99,425,850	N924S	possibly damaging	Het
Npnt	C	T	3: 132,906,457	C218Y	probably damaging	Het
Olfr434	T	A	6: 43,217,057	I48N	probably damaging	Het
Olfr715b	A	T	7: 107,106,081	M260K	probably damaging	Het
Olfr8	T	A	10: 78,956,071	F289I	probably damaging	Het
Pfkm	G	A	15: 98,122,689	C233Y	probably benign	Het
Pigq	A	G	17: 25,934,203	V338A	probably benign	Het
Pld4	A	T	12: 112,768,050	N415I	possibly damaging	Het
Pmm1	A	T	15: 81,957,894		probably null	Het
Polg	G	T	7: 79,460,074	P394T	probably damaging	Het
Polq	A	T	16: 37,062,387	I1359L	probably benign	Het
Pros1	A	G	16: 62,928,185	N674D	possibly damaging	Het
Psme4	T	A	11: 30,856,896		probably benign	Het
Rasa3	A	T	8: 13,584,959	C453*	probably null	Het
Repin1	T	C	6: 48,596,608	V101A	probably damaging	Het
Rnf186	A	T	4: 138,967,229	M27L	probably benign	Het
Rpa1	A	G	11: 75,313,299		probably null	Het
Rph3a	G	T	5: 120,945,391	N605K	probably damaging	Het
Rps18	A	T	17: 33,952,284		probably null	Het
Scgn	A	G	13: 23,990,975	I20T	probably damaging	Het
Skint6	A	T	4: 112,991,255	V652E	possibly damaging	Het
Slc23a2	T	C	2: 132,101,494	H29R	probably damaging	Het
Slc34a3	C	T	2: 25,230,842	V383I	possibly damaging	Het
Slc5a1	A	G	5: 33,152,573	M382V	possibly damaging	Het
Slc5a3	T	A	16: 92,077,281	S75R	probably damaging	Het
Stat5b	G	C	11: 100,802,483	H111D	probably benign	Het
Tanc2	G	A	11: 105,625,060	M1I	probably null	Het
Tbcel	C	T	9: 42,416,123	G328E	probably damaging	Het
Tecta	C	A	9: 42,373,062	R909L	possibly damaging	Het
Tnip1	A	T	11: 54,937,984	M119K	probably benign	Het
Wdr34	C	A	2: 30,032,769	R322L	probably benign	Het
Zbbx	A	C	3: 75,151,448	S51A	possibly damaging	Het
Zc3h12c	T	C	9: 52,116,700	N454S	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	probably benign	Het

Other mutations in Myo3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Myo3b	APN	2	70,105,645 (GRCm38)	splice site	probably benign
IGL00959:Myo3b	APN	2	70,314,292 (GRCm38)	missense	probably damaging	1.00
IGL01069:Myo3b	APN	2	70,245,391 (GRCm38)	missense	probably benign	0.22
IGL01116:Myo3b	APN	2	70,289,386 (GRCm38)	missense	probably damaging	1.00
IGL02097:Myo3b	APN	2	70,238,829 (GRCm38)	missense	probably damaging	1.00
IGL02220:Myo3b	APN	2	70,289,579 (GRCm38)	splice site	probably benign
IGL02553:Myo3b	APN	2	70,095,224 (GRCm38)	missense	probably benign	0.00
IGL02557:Myo3b	APN	2	70,255,319 (GRCm38)	missense	probably benign	0.16
IGL02648:Myo3b	APN	2	70,105,372 (GRCm38)	splice site	probably benign
IGL02902:Myo3b	APN	2	70,289,401 (GRCm38)	missense	probably benign	0.36
IGL02981:Myo3b	APN	2	70,108,625 (GRCm38)	missense	probably damaging	1.00
IGL03030:Myo3b	APN	2	70,426,816 (GRCm38)	splice site	probably benign
IGL03031:Myo3b	APN	2	70,255,377 (GRCm38)	missense	possibly damaging	0.64
IGL03068:Myo3b	APN	2	70,426,816 (GRCm38)	splice site	probably benign
IGL03078:Myo3b	APN	2	70,286,991 (GRCm38)	missense	probably damaging	1.00
IGL03224:Myo3b	APN	2	70,349,939 (GRCm38)	missense	probably benign
IGL03329:Myo3b	APN	2	70,254,459 (GRCm38)	missense	probably damaging	1.00
R0079:Myo3b	UTSW	2	70,095,158 (GRCm38)	missense	possibly damaging	0.58
R0226:Myo3b	UTSW	2	70,217,166 (GRCm38)	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	70,105,425 (GRCm38)	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	70,105,425 (GRCm38)	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	70,105,425 (GRCm38)	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	70,105,425 (GRCm38)	missense	probably benign	0.00
R0313:Myo3b	UTSW	2	70,348,959 (GRCm38)	nonsense	probably null
R0331:Myo3b	UTSW	2	70,095,261 (GRCm38)	missense	probably damaging	1.00
R0371:Myo3b	UTSW	2	70,252,960 (GRCm38)	splice site	probably benign
R0442:Myo3b	UTSW	2	70,238,961 (GRCm38)	critical splice donor site	probably null
R0964:Myo3b	UTSW	2	70,426,849 (GRCm38)	missense	probably damaging	1.00
R1217:Myo3b	UTSW	2	70,330,880 (GRCm38)	missense	probably benign	0.02
R1429:Myo3b	UTSW	2	70,253,007 (GRCm38)	missense	probably damaging	0.97
R1460:Myo3b	UTSW	2	70,232,454 (GRCm38)	missense	probably benign	0.31
R1617:Myo3b	UTSW	2	70,281,218 (GRCm38)	missense	probably benign	0.00
R1628:Myo3b	UTSW	2	70,286,962 (GRCm38)	missense	probably benign	0.01
R1708:Myo3b	UTSW	2	70,245,385 (GRCm38)	nonsense	probably null
R1940:Myo3b	UTSW	2	70,258,075 (GRCm38)	missense	probably benign	0.01
R2407:Myo3b	UTSW	2	70,255,253 (GRCm38)	missense	probably damaging	1.00
R3081:Myo3b	UTSW	2	70,256,583 (GRCm38)	splice site	probably benign
R3687:Myo3b	UTSW	2	70,245,314 (GRCm38)	missense	probably benign
R3745:Myo3b	UTSW	2	70,234,485 (GRCm38)	splice site	probably benign
R4011:Myo3b	UTSW	2	70,096,376 (GRCm38)	missense	probably benign	0.15
R4074:Myo3b	UTSW	2	70,289,464 (GRCm38)	missense	probably damaging	1.00
R4419:Myo3b	UTSW	2	70,096,362 (GRCm38)	missense	probably damaging	1.00
R4496:Myo3b	UTSW	2	70,254,404 (GRCm38)	missense	probably benign
R4539:Myo3b	UTSW	2	70,039,147 (GRCm38)	start codon destroyed	probably null	0.00
R4643:Myo3b	UTSW	2	70,238,842 (GRCm38)	missense	possibly damaging	0.49
R4657:Myo3b	UTSW	2	70,238,899 (GRCm38)	missense	possibly damaging	0.95
R4807:Myo3b	UTSW	2	70,105,712 (GRCm38)	missense	probably damaging	1.00
R4849:Myo3b	UTSW	2	70,244,909 (GRCm38)	missense	probably damaging	0.98
R4997:Myo3b	UTSW	2	70,258,083 (GRCm38)	missense	possibly damaging	0.49
R5070:Myo3b	UTSW	2	70,253,112 (GRCm38)	missense	probably damaging	1.00
R5072:Myo3b	UTSW	2	70,095,249 (GRCm38)	missense	possibly damaging	0.96
R5082:Myo3b	UTSW	2	70,258,030 (GRCm38)	missense	probably benign	0.01
R5103:Myo3b	UTSW	2	70,096,403 (GRCm38)	missense	probably benign	0.08
R5109:Myo3b	UTSW	2	70,095,293 (GRCm38)	missense	possibly damaging	0.66
R5304:Myo3b	UTSW	2	70,426,888 (GRCm38)	missense	probably damaging	0.97
R5396:Myo3b	UTSW	2	70,126,985 (GRCm38)	missense	probably damaging	0.99
R5400:Myo3b	UTSW	2	70,105,380 (GRCm38)	missense	probably damaging	1.00
R5468:Myo3b	UTSW	2	70,234,441 (GRCm38)	missense	probably benign	0.00
R5620:Myo3b	UTSW	2	70,238,910 (GRCm38)	missense	probably benign	0.04
R5646:Myo3b	UTSW	2	70,314,430 (GRCm38)	missense	probably damaging	0.97
R5729:Myo3b	UTSW	2	70,105,739 (GRCm38)	missense	probably damaging	1.00
R5943:Myo3b	UTSW	2	70,286,941 (GRCm38)	missense	probably benign	0.03
R5971:Myo3b	UTSW	2	70,238,899 (GRCm38)	missense	possibly damaging	0.95
R6091:Myo3b	UTSW	2	70,238,769 (GRCm38)	missense	probably benign	0.00
R6138:Myo3b	UTSW	2	70,238,899 (GRCm38)	missense	possibly damaging	0.95
R6164:Myo3b	UTSW	2	70,245,410 (GRCm38)	critical splice donor site	probably null
R6177:Myo3b	UTSW	2	70,313,363 (GRCm38)	missense	probably benign	0.00
R6421:Myo3b	UTSW	2	70,313,356 (GRCm38)	missense	probably benign	0.02
R6478:Myo3b	UTSW	2	70,348,960 (GRCm38)	missense	probably benign
R6606:Myo3b	UTSW	2	70,232,485 (GRCm38)	missense	possibly damaging	0.94
R6752:Myo3b	UTSW	2	70,289,512 (GRCm38)	missense	probably damaging	1.00
R6982:Myo3b	UTSW	2	70,426,065 (GRCm38)	missense	probably benign	0.02
R6997:Myo3b	UTSW	2	70,126,985 (GRCm38)	missense	probably damaging	0.99
R7032:Myo3b	UTSW	2	70,095,264 (GRCm38)	missense	probably damaging	0.98
R7038:Myo3b	UTSW	2	70,095,208 (GRCm38)	missense	probably benign	0.00
R7062:Myo3b	UTSW	2	70,217,157 (GRCm38)	missense	probably benign	0.00
R7537:Myo3b	UTSW	2	70,217,169 (GRCm38)	missense	probably benign	0.01
R7861:Myo3b	UTSW	2	70,108,688 (GRCm38)	missense	probably damaging	1.00
R7955:Myo3b	UTSW	2	70,095,279 (GRCm38)	missense	probably benign	0.37
R7977:Myo3b	UTSW	2	70,330,933 (GRCm38)	missense	probably benign
R7978:Myo3b	UTSW	2	70,253,114 (GRCm38)	missense	probably damaging	1.00
R7987:Myo3b	UTSW	2	70,330,933 (GRCm38)	missense	probably benign
R8803:Myo3b	UTSW	2	70,252,994 (GRCm38)	missense	probably benign
R8843:Myo3b	UTSW	2	70,257,981 (GRCm38)	missense	probably damaging	1.00
R8896:Myo3b	UTSW	2	70,238,816 (GRCm38)	missense	probably damaging	1.00
R8904:Myo3b	UTSW	2	70,426,908 (GRCm38)	missense	probably benign	0.07
R8909:Myo3b	UTSW	2	70,253,096 (GRCm38)	missense	probably damaging	1.00
R9031:Myo3b	UTSW	2	70,251,750 (GRCm38)	missense	probably damaging	0.99
R9052:Myo3b	UTSW	2	70,232,403 (GRCm38)	missense	probably benign	0.00
R9251:Myo3b	UTSW	2	70,258,081 (GRCm38)	nonsense	probably null
R9268:Myo3b	UTSW	2	70,426,961 (GRCm38)	makesense	probably null
R9334:Myo3b	UTSW	2	70,217,016 (GRCm38)	missense	probably damaging	1.00
R9377:Myo3b	UTSW	2	70,238,898 (GRCm38)	missense	possibly damaging	0.78
R9457:Myo3b	UTSW	2	70,095,209 (GRCm38)	missense	probably benign	0.01
R9520:Myo3b	UTSW	2	70,232,409 (GRCm38)	missense	possibly damaging	0.67
R9593:Myo3b	UTSW	2	70,245,304 (GRCm38)	missense	probably benign	0.43
R9671:Myo3b	UTSW	2	70,256,564 (GRCm38)	missense	probably damaging	1.00
R9790:Myo3b	UTSW	2	70,349,943 (GRCm38)	missense	probably benign	0.35
R9791:Myo3b	UTSW	2	70,349,943 (GRCm38)	missense	probably benign	0.35
U15987:Myo3b	UTSW	2	70,238,899 (GRCm38)	missense	possibly damaging	0.95
X0025:Myo3b	UTSW	2	70,232,403 (GRCm38)	missense	probably benign	0.00
X0065:Myo3b	UTSW	2	70,257,969 (GRCm38)	missense	probably damaging	1.00
Z1177:Myo3b	UTSW	2	70,258,027 (GRCm38)	missense	probably benign	0.01
Z1177:Myo3b	UTSW	2	70,096,361 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTATATCCAGTTGCCGGGC -3'
(R):5'- CCTGACCCTGGTTAAAGTTCAG -3'

Sequencing Primer
(F):5'- AGTGGCTCCTCAGACAGC -3'
(R):5'- GCTCCTGCAAAGGATTCAGG -3'

Posted On

2016-06-06