Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02902:Myo3b'

363625

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02902

Quality Score

Status

Chromosome

Chromosomal Location

69869470-70259542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70119745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 935 (V935E)

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: V963E

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: V963E

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: V935E

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: V935E

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

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	G	T	1: 85,974,087 (GRCm39)	V135F	possibly damaging	Het
Aatk	T	C	11: 119,902,603 (GRCm39)	T541A	probably benign	Het
Abcc1	T	C	16: 14,240,991 (GRCm39)	L516P	probably damaging	Het
Actl6a	T	A	3: 32,776,791 (GRCm39)	V350E	possibly damaging	Het
Afm	A	G	5: 90,674,222 (GRCm39)	K245E	possibly damaging	Het
Agr3	T	C	12: 35,996,915 (GRCm39)	V63A	probably damaging	Het
Arhgef28	A	T	13: 98,083,383 (GRCm39)	M1162K	probably damaging	Het
Casq2	T	A	3: 101,994,113 (GRCm39)	C53*	probably null	Het
Ccdc181	T	C	1: 164,107,470 (GRCm39)	V51A	probably benign	Het
Cd101	A	G	3: 100,926,310 (GRCm39)		probably benign	Het
Csdc2	T	C	15: 81,832,801 (GRCm39)	V69A	probably benign	Het
Cyp2c23	A	T	19: 44,009,997 (GRCm39)		probably benign	Het
Dnph1	A	G	17: 46,809,427 (GRCm39)		probably benign	Het
Egf	T	C	3: 129,474,796 (GRCm39)	T1124A	probably benign	Het
Gpr45	A	G	1: 43,072,371 (GRCm39)	E338G	possibly damaging	Het
Grb14	A	C	2: 64,768,762 (GRCm39)	L98R	probably damaging	Het
Gucy1a1	T	C	3: 82,026,224 (GRCm39)	S77G	possibly damaging	Het
Helb	A	G	10: 119,925,390 (GRCm39)	S996P	probably benign	Het
Huwe1	A	G	X: 150,669,762 (GRCm39)	E1405G	probably damaging	Het
Ifi47	T	C	11: 48,986,617 (GRCm39)	I128T	probably benign	Het
Ift140	T	A	17: 25,309,736 (GRCm39)	Y1089N	probably damaging	Het
Ift56	A	C	6: 38,402,097 (GRCm39)	S530R	probably benign	Het
Il1r1	A	T	1: 40,341,569 (GRCm39)	H324L	probably benign	Het
Irx1	C	T	13: 72,107,974 (GRCm39)	R236H	probably benign	Het
Itpr3	T	C	17: 27,323,530 (GRCm39)	V1185A	probably benign	Het
Kif19a	T	C	11: 114,676,396 (GRCm39)	V450A	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,446 (GRCm39)	Y65*	probably null	Het
Ltn1	A	T	16: 87,176,693 (GRCm39)	N1704K	possibly damaging	Het
Med1	T	C	11: 98,047,335 (GRCm39)		probably benign	Het
Meis2	T	A	2: 115,893,804 (GRCm39)	H36L	probably damaging	Het
Mier2	T	C	10: 79,385,456 (GRCm39)	N124S	probably damaging	Het
Mmp20	A	G	9: 7,654,171 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,569,212 (GRCm39)	T91A	possibly damaging	Het
Ndufa7	T	C	17: 34,048,632 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,825,405 (GRCm39)	E366G	possibly damaging	Het
Nobox	A	T	6: 43,282,617 (GRCm39)	N263K	probably benign	Het
Notch2	A	G	3: 98,018,890 (GRCm39)	D684G	probably damaging	Het
Odr4	C	A	1: 150,260,179 (GRCm39)		probably null	Het
Or2t1	A	G	14: 14,328,789 (GRCm38)	H226R	probably benign	Het
Or4c12b	T	A	2: 89,647,508 (GRCm39)	Y273*	probably null	Het
Or5p69	C	A	7: 107,967,336 (GRCm39)	T213K	probably damaging	Het
Or5w13	T	C	2: 87,523,344 (GRCm39)	N294S	probably damaging	Het
Or6aa1	T	C	7: 86,043,743 (GRCm39)		probably benign	Het
Plau	A	C	14: 20,889,965 (GRCm39)	D270A	possibly damaging	Het
Pof1b	T	C	X: 111,558,809 (GRCm39)		probably null	Het
Pramel23	A	G	4: 143,424,913 (GRCm39)	C177R	probably damaging	Het
Prtn3	A	T	10: 79,717,767 (GRCm39)		probably null	Het
Ptges3	T	A	10: 127,904,616 (GRCm39)	D26E	probably benign	Het
Pxmp2	T	C	5: 110,429,160 (GRCm39)	E99G	probably benign	Het
Rasgef1a	A	G	6: 118,060,068 (GRCm39)	R106G	probably benign	Het
Rnf208	T	C	2: 25,133,774 (GRCm39)	V156A	probably benign	Het
Rps6ka1	A	T	4: 133,599,292 (GRCm39)	I45N	possibly damaging	Het
Rps6ka4	C	T	19: 6,809,623 (GRCm39)		probably null	Het
Rsbn1	G	T	3: 103,860,972 (GRCm39)	C466F	possibly damaging	Het
Shkbp1	A	T	7: 27,042,141 (GRCm39)	C605S	probably damaging	Het
Slc2a10	G	A	2: 165,360,142 (GRCm39)	D531N	probably benign	Het
Sox13	A	G	1: 133,317,204 (GRCm39)	L143P	probably damaging	Het
Stx2	C	T	5: 129,069,285 (GRCm39)	R142Q	probably damaging	Het
Tanc1	T	A	2: 59,623,431 (GRCm39)		probably benign	Het
Tubgcp5	C	T	7: 55,456,355 (GRCm39)	Q316*	probably null	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unc5d	G	A	8: 29,365,634 (GRCm39)	T117I	probably damaging	Het
Vmn2r4	T	C	3: 64,314,337 (GRCm39)	I126V	probably benign	Het
Zfp410	T	A	12: 84,378,594 (GRCm39)		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
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
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

Posted On

2015-12-18