Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01537:Myo1b'

89991

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo1b

Ensembl Gene

ENSMUSG00000018417

Gene Name

myosin IB

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

IGL01537

Quality Score

Status

Chromosome

Chromosomal Location

51749765-51916071 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51776351 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 612 (V612A)

Ref Sequence

ENSEMBL: ENSMUSP00000018561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018561] [ENSMUST00000046390] [ENSMUST00000114537] [ENSMUST00000114541]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018561
AA Change: V612A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: V612A

Domain	Start	End	E-Value	Type
MYSc	9	702	N/A	SMART
IQ	703	725	2.37e-3	SMART
IQ	726	748	2.43e0	SMART
IQ	749	771	5.24e-5	SMART
IQ	778	800	4.59e0	SMART
IQ	807	829	7.07e-2	SMART
IQ	836	858	3.3e-2	SMART
Pfam:Myosin_TH1	941	1128	3e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046390
AA Change: V612A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: V612A

Domain	Start	End	E-Value	Type
MYSc	9	702	N/A	SMART
IQ	703	725	2.37e-3	SMART
IQ	726	748	2.43e0	SMART
IQ	749	771	5.24e-5	SMART
IQ	778	800	3.68e0	SMART
IQ	807	829	3.3e-2	SMART
Pfam:Myosin_TH1	911	1107	3.3e-51	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114537
AA Change: V612A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: V612A

Domain	Start	End	E-Value	Type
MYSc	9	702	N/A	SMART
IQ	703	725	2.37e-3	SMART
IQ	726	748	2.43e0	SMART
IQ	749	771	5.24e-5	SMART
IQ	778	800	1.6e0	SMART
Pfam:Myosin_TH1	882	1078	1.9e-51	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114541
AA Change: V618A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: V618A

Domain	Start	End	E-Value	Type
MYSc	15	708	N/A	SMART
IQ	709	731	2.37e-3	SMART
IQ	732	754	2.43e0	SMART
IQ	755	777	5.24e-5	SMART
IQ	784	806	1.6e0	SMART
Pfam:Myosin_TH1	888	1084	5.8e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136701

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn1l	T	C	8: 109,732,680	R317G	probably benign	Het
B130006D01Rik	T	A	11: 95,726,166		probably benign	Het
Brinp2	T	C	1: 158,246,809	T581A	probably damaging	Het
Cacna1b	A	T	2: 24,658,528	I1179N	probably damaging	Het
Cacnb3	A	G	15: 98,643,420	D434G	probably damaging	Het
Cdh19	T	C	1: 110,919,611	T423A	possibly damaging	Het
Chkb	C	T	15: 89,427,783		probably benign	Het
Cit	T	C	5: 115,933,854	Y623H	probably benign	Het
Clstn3	G	A	6: 124,431,600	R918C	possibly damaging	Het
Dnah2	T	A	11: 69,516,080	M200L	probably benign	Het
Dnah9	T	A	11: 65,947,680	H3097L	probably benign	Het
Dst	T	A	1: 34,275,320	L4217H	probably damaging	Het
Fam107b	T	A	2: 3,778,528	L80Q	probably damaging	Het
Fgfr1	T	A	8: 25,555,579	C55S	probably damaging	Het
Igkv4-71	C	A	6: 69,243,280	G78*	probably null	Het
Igsf10	A	G	3: 59,330,031	S910P	probably benign	Het
Ikzf3	T	C	11: 98,516,892	D41G	probably damaging	Het
Larp1	T	A	11: 58,042,822	I358N	possibly damaging	Het
March5	C	T	19: 37,210,668		probably benign	Het
Mpdz	T	C	4: 81,369,658	T455A	probably damaging	Het
Nipbl	T	C	15: 8,350,539	D923G	probably benign	Het
Nlrp4b	T	C	7: 10,714,991	F7L	probably damaging	Het
Npas4	T	C	19: 4,987,327	N313S	possibly damaging	Het
Nynrin	T	A	14: 55,872,045	N1536K	possibly damaging	Het
Olfr1212	T	C	2: 88,958,541	V25A	probably benign	Het
Olfr535	A	G	7: 140,492,838	N67D	probably damaging	Het
Olfr975	T	A	9: 39,950,625	T49S	probably benign	Het
Papd7	A	T	13: 69,500,559	S693T	probably benign	Het
Pclo	T	C	5: 14,539,633	V649A	unknown	Het
Pom121	A	G	5: 135,392,535		probably benign	Het
Ptcd2	A	T	13: 99,330,013	I224N	possibly damaging	Het
Rsrp1	C	T	4: 134,923,979	P18L	unknown	Het
Sash1	A	T	10: 8,729,658	N989K	probably damaging	Het
Scn2a	T	A	2: 65,715,875	H927Q	probably benign	Het
Selenoi	G	T	5: 30,256,224	V128F	probably damaging	Het
Slc25a42	T	C	8: 70,189,442	I117V	probably benign	Het
Spata1	A	G	3: 146,489,803		probably benign	Het
Sptlc3	A	T	2: 139,589,695	Y379F	possibly damaging	Het
Tinag	C	T	9: 77,045,603	R33K	probably benign	Het
Trappc8	T	C	18: 20,835,004	D1092G	probably benign	Het
Xntrpc	A	G	7: 102,073,194	E22G	probably damaging	Het
Zbtb7b	A	G	3: 89,379,971	M397T	possibly damaging	Het
Zgpat	A	G	2: 181,378,889	D285G	probably benign	Het

Other mutations in Myo1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Myo1b	APN	1	51763954	missense	possibly damaging	0.94
IGL00943:Myo1b	APN	1	51784487	missense	probably damaging	0.97
IGL01550:Myo1b	APN	1	51784531	missense	probably damaging	1.00
IGL01610:Myo1b	APN	1	51776246	missense	probably damaging	1.00
IGL01667:Myo1b	APN	1	51760377	missense	probably damaging	1.00
IGL01743:Myo1b	APN	1	51782020	missense	probably damaging	0.96
IGL01830:Myo1b	APN	1	51797465	nonsense	probably null
IGL02070:Myo1b	APN	1	51794337	missense	probably damaging	1.00
IGL02398:Myo1b	APN	1	51757891	missense	probably damaging	1.00
IGL02582:Myo1b	APN	1	51781974	missense	possibly damaging	0.88
IGL02685:Myo1b	APN	1	51778499	missense	probably damaging	1.00
IGL02938:Myo1b	APN	1	51801178	splice site	probably null
IGL02981:Myo1b	APN	1	51778373	missense	probably damaging	1.00
R0007:Myo1b	UTSW	1	51776254	missense	probably damaging	1.00
R0007:Myo1b	UTSW	1	51776254	missense	probably damaging	1.00
R0035:Myo1b	UTSW	1	51778382	missense	probably damaging	1.00
R0040:Myo1b	UTSW	1	51781989	missense	probably damaging	1.00
R0040:Myo1b	UTSW	1	51781989	missense	probably damaging	1.00
R0491:Myo1b	UTSW	1	51755698	missense	probably benign	0.05
R0959:Myo1b	UTSW	1	51797087	missense	probably damaging	1.00
R1171:Myo1b	UTSW	1	51778525	missense	probably damaging	1.00
R1440:Myo1b	UTSW	1	51778558	splice site	probably benign
R1539:Myo1b	UTSW	1	51799563	missense	probably damaging	0.97
R1616:Myo1b	UTSW	1	51776315	missense	probably damaging	1.00
R1888:Myo1b	UTSW	1	51760403	critical splice acceptor site	probably null
R1888:Myo1b	UTSW	1	51760403	critical splice acceptor site	probably null
R2697:Myo1b	UTSW	1	51863358	missense	probably benign	0.04
R3034:Myo1b	UTSW	1	51773247	missense	possibly damaging	0.83
R3720:Myo1b	UTSW	1	51776346	missense	possibly damaging	0.79
R3896:Myo1b	UTSW	1	51773261	missense	probably damaging	0.97
R4003:Myo1b	UTSW	1	51799530	critical splice donor site	probably null
R4179:Myo1b	UTSW	1	51778526	missense	probably damaging	1.00
R4308:Myo1b	UTSW	1	51883109	missense	probably benign	0.01
R4444:Myo1b	UTSW	1	51757919	missense	probably damaging	0.99
R4679:Myo1b	UTSW	1	51757973	missense	possibly damaging	0.94
R4914:Myo1b	UTSW	1	51824208	splice site	probably null
R5343:Myo1b	UTSW	1	51778537	missense	probably benign	0.00
R5530:Myo1b	UTSW	1	51797423	missense	probably damaging	1.00
R5636:Myo1b	UTSW	1	51797528	missense	probably damaging	1.00
R5956:Myo1b	UTSW	1	51776232	missense	probably damaging	1.00
R5974:Myo1b	UTSW	1	51778373	missense	probably damaging	1.00
R6334:Myo1b	UTSW	1	51768651	missense	probably null	0.36
R6346:Myo1b	UTSW	1	51784507	missense	probably damaging	1.00
R6382:Myo1b	UTSW	1	51774307	splice site	probably null
R6757:Myo1b	UTSW	1	51813048	missense	probably damaging	1.00
R6952:Myo1b	UTSW	1	51762509	missense	probably damaging	0.99
R7101:Myo1b	UTSW	1	51758001	missense	probably benign	0.19
R7192:Myo1b	UTSW	1	51757217	missense	probably damaging	0.99
R7347:Myo1b	UTSW	1	51751254	missense	probably damaging	1.00
R7446:Myo1b	UTSW	1	51763906	missense	possibly damaging	0.87
R7468:Myo1b	UTSW	1	51797480	missense	possibly damaging	0.78
R7503:Myo1b	UTSW	1	51776602	splice site	probably null
R7586:Myo1b	UTSW	1	51778324	missense	probably damaging	0.99
R7712:Myo1b	UTSW	1	51793677	missense	probably damaging	1.00
R7871:Myo1b	UTSW	1	51779580	missense	possibly damaging	0.89
R7905:Myo1b	UTSW	1	51763884	splice site	probably null
R8093:Myo1b	UTSW	1	51757875	critical splice donor site	probably null
X0065:Myo1b	UTSW	1	51797395	missense	probably damaging	0.99

Posted On

2013-12-03