Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01667:Myo1b'

103347

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: 0.386) question?

Stock #

IGL01667

Quality Score

Status

Chromosome

Chromosomal Location

51749765-51916071 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51760377 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 931 (T931A)

Ref Sequence

ENSEMBL: ENSMUSP00000018561 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000018561
AA Change: T931A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: T931A

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: T902A

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: T902A

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: T873A

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: T873A

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: T879A

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: T879A

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: ENSMUST00000140731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145367

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,570,019	T57A	probably damaging	Het
Akna	G	T	4: 63,379,159	T886N	probably benign	Het
Aqp9	A	G	9: 71,138,213	V38A	probably benign	Het
Awat2	C	T	X: 100,404,254	G124D	probably damaging	Het
Camsap1	A	G	2: 25,945,281		probably benign	Het
Catsperg2	T	C	7: 29,710,133	Y545C	probably damaging	Het
Cldn23	A	G	8: 35,825,920	F138S	possibly damaging	Het
Clec4a3	A	C	6: 122,952,860		probably benign	Het
Dlgap3	C	A	4: 127,233,897	T786K	probably benign	Het
Dnah2	A	C	11: 69,544,395	S50A	probably benign	Het
Dnah2	A	T	11: 69,520,941	I285N	probably damaging	Het
Dnah7a	A	G	1: 53,547,292	Y1467H	probably damaging	Het
Fgf22	C	T	10: 79,756,754	P115L	probably damaging	Het
Fzd2	G	T	11: 102,605,782	V351L	possibly damaging	Het
Gapdhs	T	A	7: 30,736,637	E174V	possibly damaging	Het
Gjc2	A	C	11: 59,177,518	I46S	probably damaging	Het
Gm5581	T	C	6: 131,167,772		noncoding transcript	Het
Krt2	C	A	15: 101,816,330	V282L	possibly damaging	Het
Myh15	G	A	16: 49,195,579	V1873M	probably benign	Het
Myo6	A	T	9: 80,289,893	K965N	unknown	Het
Olfr1441	T	C	19: 12,422,756	V149A	probably benign	Het
Pcnx3	T	C	19: 5,686,630	R160G	probably benign	Het
Slc22a16	T	C	10: 40,585,018	I272T	probably damaging	Het
Slc35b4	A	G	6: 34,167,675	Y82H	possibly damaging	Het
Spdya	T	C	17: 71,556,259	M1T	probably null	Het
St6gal1	A	G	16: 23,321,424	N115S	probably benign	Het
Tbc1d12	A	T	19: 38,914,300		probably benign	Het
Tfrc	A	G	16: 32,624,443		probably benign	Het
Trip11	A	C	12: 101,878,862	F1539C	probably damaging	Het
Ttn	A	T	2: 76,781,078	I15624N	possibly damaging	Het
Vmn1r169	A	T	7: 23,577,800	M206L	probably benign	Het
Zfp362	A	G	4: 128,787,109	L141P	probably damaging	Het
Zfp692	A	G	11: 58,311,553	H378R	probably damaging	Het
Zfp799	T	C	17: 32,821,820	Q52R	possibly damaging	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
IGL01537:Myo1b	APN	1	51776351	missense	possibly damaging	0.93
IGL01550:Myo1b	APN	1	51784531	missense	probably damaging	1.00
IGL01610:Myo1b	APN	1	51776246	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
R8485:Myo1b	UTSW	1	51779601	missense	probably damaging	1.00
R8735:Myo1b	UTSW	1	51755737	missense	probably benign	0.27
X0065:Myo1b	UTSW	1	51797395	missense	probably damaging	0.99

Posted On

2014-01-21