Mutagenetix > Incidental Mutation

Incidental Mutation 'R4011:Myo3b'

311672

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

040948-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4011 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69869470-70259542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69926720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 5 (I5V)

Ref Sequence

ENSEMBL: ENSMUSP00000107860 (fasta)

Gene Model

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

AlphaFold

Q1EG27

Predicted Effect

probably benign
Transcript: ENSMUST00000060208
AA Change: I84V

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

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: I84V

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
AA Change: I5V

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107860
Gene: ENSMUSG00000042064
AA Change: I5V

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

probably benign
Transcript: ENSMUST00000112243
AA Change: I56V

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

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: I56V

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

0.1185

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (43/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,572,013 (GRCm39)		probably benign	Het
Acss2	T	A	2: 155,399,548 (GRCm39)	L529Q	probably damaging	Het
Adsl	T	C	15: 80,850,357 (GRCm39)	S359P	probably benign	Het
C1qtnf1	G	A	11: 118,337,365 (GRCm39)	G65D	probably benign	Het
Chd1l	A	T	3: 97,477,718 (GRCm39)	M679K	probably benign	Het
Cspg4	A	G	9: 56,794,601 (GRCm39)	T779A	probably benign	Het
Ddx18	T	C	1: 121,489,810 (GRCm39)	I200V	probably benign	Het
Dnah9	T	A	11: 65,725,290 (GRCm39)	M4288L	probably damaging	Het
F830045P16Rik	A	T	2: 129,305,467 (GRCm39)	N302K	probably damaging	Het
Gas1	T	G	13: 60,323,791 (GRCm39)	D322A	unknown	Het
Gfm2	T	A	13: 97,279,608 (GRCm39)		probably benign	Het
Gm5592	G	T	7: 40,938,934 (GRCm39)	V739L	probably benign	Het
Hbb-bh2	T	A	7: 103,489,416 (GRCm39)	H45L	probably benign	Het
Ifit2	G	T	19: 34,551,445 (GRCm39)	M328I	probably benign	Het
Igdcc4	T	C	9: 65,042,761 (GRCm39)	V1237A	probably benign	Het
Kat2b	G	A	17: 53,951,769 (GRCm39)		probably null	Het
Lmtk2	A	G	5: 144,112,697 (GRCm39)	N1139S	probably benign	Het
Map1a	G	A	2: 121,130,608 (GRCm39)	A475T	probably damaging	Het
Map3k20	G	A	2: 72,214,468 (GRCm39)		probably benign	Het
Mga	T	C	2: 119,762,261 (GRCm39)	V1084A	probably damaging	Het
Msantd5f6	T	C	4: 73,320,047 (GRCm39)	Y244C	probably damaging	Het
Or10a3m	A	T	7: 108,313,366 (GRCm39)	I269L	probably benign	Het
Or10ag56	A	G	2: 87,139,555 (GRCm39)	I141V	probably benign	Het
Or10ag57	A	T	2: 87,218,924 (GRCm39)	I292F	possibly damaging	Het
Or56b1	A	G	7: 104,285,555 (GRCm39)	T225A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or5v1	T	C	17: 37,810,382 (GRCm39)	V280A	possibly damaging	Het
Osmr	G	T	15: 6,854,014 (GRCm39)	R565S	probably benign	Het
Pcolce	G	T	5: 137,604,036 (GRCm39)	Q344K	probably benign	Het
Prdm11	A	G	2: 92,843,175 (GRCm39)	F95L	probably damaging	Het
Psd2	C	T	18: 36,120,300 (GRCm39)	T383I	probably benign	Het
Reg3a	G	A	6: 78,360,553 (GRCm39)	D164N	probably damaging	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Sgce	G	T	6: 4,691,563 (GRCm39)	Y301*	probably null	Het
Slc28a3	T	C	13: 58,714,064 (GRCm39)	K434E	probably benign	Het
Slc30a3	A	G	5: 31,244,203 (GRCm39)	F360L	probably damaging	Het
Tdpoz3	A	T	3: 93,733,550 (GRCm39)	Y75F	possibly damaging	Het
Trim65	A	G	11: 116,018,529 (GRCm39)	F249L	probably benign	Het
Tubgcp3	A	T	8: 12,689,634 (GRCm39)	L544*	probably null	Het
Vit	C	T	17: 78,842,121 (GRCm39)		probably benign	Het
Wdfy4	C	A	14: 32,824,637 (GRCm39)		probably benign	Het
Xpo6	T	C	7: 125,739,780 (GRCm39)	K431E	probably benign	Het
Xrn1	T	A	9: 95,867,278 (GRCm39)	Y545*	probably null	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
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
R5468:Myo3b	UTSW	2	70,064,785 (GRCm39)	missense	probably benign	0.00
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'- ATCAGGATCAGAAGAGCTGCTC -3'
(R):5'- TGCAAACGCGCTTCCAATC -3'

Sequencing Primer
(F):5'- GCACACTTGTAATTCAAACTCTTGGG -3'
(R):5'- GCGCTTCCAATCCACAGC -3'

Posted On

2015-04-29