Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Myo3b'

279618

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 #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

69869470-70259542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70069173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 471 (T471S)

Ref Sequence

ENSEMBL: ENSMUSP00000107862 (fasta)

Gene Model

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

AlphaFold

Q1EG27

Predicted Effect

probably damaging
Transcript: ENSMUST00000060208
AA Change: T499S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: T499S

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: T471S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: T471S

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 105,109,052 (GRCm39)	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,262,118 (GRCm39)	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,092,468 (GRCm39)	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,884,813 (GRCm39)	T788I	probably benign	Het
Asic1	T	C	15: 99,592,567 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,870,199 (GRCm39)	M68K	probably benign	Het
Cdhr5	G	T	7: 140,849,894 (GRCm39)	T637K	probably damaging	Het
Corin	A	T	5: 72,529,489 (GRCm39)	C289S	probably damaging	Het
Cpne4	T	C	9: 104,563,701 (GRCm39)	V26A	probably damaging	Het
Csmd1	T	C	8: 16,261,773 (GRCm39)	D908G	probably null	Het
Cyp2c29	A	G	19: 39,296,064 (GRCm39)	D126G	probably damaging	Het
Ddx42	G	A	11: 106,129,986 (GRCm39)	S426N	probably benign	Het
Dnah1	C	T	14: 31,026,958 (GRCm39)	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,006,715 (GRCm39)	T246A	probably damaging	Het
Fbn1	A	T	2: 125,205,889 (GRCm39)	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527 (GRCm39)	N536S	probably benign	Het
Gnal	G	A	18: 67,350,279 (GRCm39)		probably benign	Het
Gns	A	G	10: 121,226,598 (GRCm39)	T416A	probably benign	Het
Heatr5b	G	A	17: 79,124,943 (GRCm39)	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,527,548 (GRCm39)		probably benign	Het
Krt23	C	T	11: 99,383,836 (GRCm39)	G19R	probably benign	Het
Lama2	C	T	10: 27,014,956 (GRCm39)	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,815,772 (GRCm39)	V11M	probably damaging	Het
Man1a2	T	C	3: 100,489,447 (GRCm39)	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,239,204 (GRCm39)	V241F	possibly damaging	Het
Myh3	A	G	11: 66,973,750 (GRCm39)	D141G	probably benign	Het
Mylk2	G	A	2: 152,757,056 (GRCm39)	C277Y	probably damaging	Het
Naip1	A	G	13: 100,562,096 (GRCm39)	V1023A	probably benign	Het
Olfm5	T	A	7: 103,803,438 (GRCm39)	T342S	probably benign	Het
Or10g1	A	G	14: 52,647,511 (GRCm39)	F273L	probably benign	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,642,910 (GRCm39)	F263L	probably benign	Het
Plekhh2	A	T	17: 84,906,608 (GRCm39)	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,081,513 (GRCm39)		probably benign	Het
Rbm28	G	T	6: 29,138,617 (GRCm39)	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,130,524 (GRCm39)	F234L	probably benign	Het
Sele	T	C	1: 163,880,662 (GRCm39)	S415P	probably benign	Het
Shpk	T	C	11: 73,094,821 (GRCm39)	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,543,703 (GRCm39)	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,489,684 (GRCm39)	P120S	possibly damaging	Het
Slc8a2	A	G	7: 15,891,081 (GRCm39)	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,885,765 (GRCm39)	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,093,650 (GRCm39)	D739A	probably damaging	Het
Thg1l	A	G	11: 45,841,055 (GRCm39)	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,530,475 (GRCm39)	V540M	probably damaging	Het
Wdr48	A	G	9: 119,753,329 (GRCm39)	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,433,371 (GRCm39)	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,300,351 (GRCm39)	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,223,643 (GRCm39)	Y133*	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
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
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

2015-04-16