Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly essential (E-score: 0.691) question?

Stock #

IGL01667

Quality Score

Status

Chromosome

Chromosomal Location

51788917-51955143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51799536 bp (GRCm39)

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]

AlphaFold

P46735

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: 75,219,767 (GRCm39)	T57A	probably damaging	Het
Akna	G	T	4: 63,297,396 (GRCm39)	T886N	probably benign	Het
Aqp9	A	G	9: 71,045,495 (GRCm39)	V38A	probably benign	Het
Awat2	C	T	X: 99,447,860 (GRCm39)	G124D	probably damaging	Het
Camsap1	A	G	2: 25,835,293 (GRCm39)		probably benign	Het
Catsperg2	T	C	7: 29,409,558 (GRCm39)	Y545C	probably damaging	Het
Cldn23	A	G	8: 36,293,074 (GRCm39)	F138S	possibly damaging	Het
Clec4a3	A	C	6: 122,929,819 (GRCm39)		probably benign	Het
Dlgap3	C	A	4: 127,127,690 (GRCm39)	T786K	probably benign	Het
Dnah2	A	C	11: 69,435,221 (GRCm39)	S50A	probably benign	Het
Dnah2	A	T	11: 69,411,767 (GRCm39)	I285N	probably damaging	Het
Dnah7a	A	G	1: 53,586,451 (GRCm39)	Y1467H	probably damaging	Het
Fgf22	C	T	10: 79,592,588 (GRCm39)	P115L	probably damaging	Het
Fzd2	G	T	11: 102,496,608 (GRCm39)	V351L	possibly damaging	Het
Gapdhs	T	A	7: 30,436,062 (GRCm39)	E174V	possibly damaging	Het
Gjc2	A	C	11: 59,068,344 (GRCm39)	I46S	probably damaging	Het
Gm5581	T	C	6: 131,144,735 (GRCm39)		noncoding transcript	Het
Krt1c	C	A	15: 101,724,765 (GRCm39)	V282L	possibly damaging	Het
Myh15	G	A	16: 49,015,942 (GRCm39)	V1873M	probably benign	Het
Myo6	A	T	9: 80,197,175 (GRCm39)	K965N	unknown	Het
Or5a3	T	C	19: 12,400,120 (GRCm39)	V149A	probably benign	Het
Pcnx3	T	C	19: 5,736,658 (GRCm39)	R160G	probably benign	Het
Slc22a16	T	C	10: 40,461,014 (GRCm39)	I272T	probably damaging	Het
Slc35b4	A	G	6: 34,144,610 (GRCm39)	Y82H	possibly damaging	Het
Spdya	T	C	17: 71,863,254 (GRCm39)	M1T	probably null	Het
St6gal1	A	G	16: 23,140,174 (GRCm39)	N115S	probably benign	Het
Tbc1d12	A	T	19: 38,902,744 (GRCm39)		probably benign	Het
Tfrc	A	G	16: 32,443,261 (GRCm39)		probably benign	Het
Trip11	A	C	12: 101,845,121 (GRCm39)	F1539C	probably damaging	Het
Ttn	A	T	2: 76,611,422 (GRCm39)	I15624N	possibly damaging	Het
Vmn1r169	A	T	7: 23,277,225 (GRCm39)	M206L	probably benign	Het
Zfp362	A	G	4: 128,680,902 (GRCm39)	L141P	probably damaging	Het
Zfp692	A	G	11: 58,202,379 (GRCm39)	H378R	probably damaging	Het
Zfp799	T	C	17: 33,040,794 (GRCm39)	Q52R	possibly damaging	Het

Other mutations in Myo1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Myo1b	APN	1	51,803,113 (GRCm39)	missense	possibly damaging	0.94
IGL00943:Myo1b	APN	1	51,823,646 (GRCm39)	missense	probably damaging	0.97
IGL01537:Myo1b	APN	1	51,815,510 (GRCm39)	missense	possibly damaging	0.93
IGL01550:Myo1b	APN	1	51,823,690 (GRCm39)	missense	probably damaging	1.00
IGL01610:Myo1b	APN	1	51,815,405 (GRCm39)	missense	probably damaging	1.00
IGL01743:Myo1b	APN	1	51,821,179 (GRCm39)	missense	probably damaging	0.96
IGL01830:Myo1b	APN	1	51,836,624 (GRCm39)	nonsense	probably null
IGL02070:Myo1b	APN	1	51,833,496 (GRCm39)	missense	probably damaging	1.00
IGL02398:Myo1b	APN	1	51,797,050 (GRCm39)	missense	probably damaging	1.00
IGL02582:Myo1b	APN	1	51,821,133 (GRCm39)	missense	possibly damaging	0.88
IGL02685:Myo1b	APN	1	51,817,658 (GRCm39)	missense	probably damaging	1.00
IGL02938:Myo1b	APN	1	51,840,337 (GRCm39)	splice site	probably null
IGL02981:Myo1b	APN	1	51,817,532 (GRCm39)	missense	probably damaging	1.00
Philemon	UTSW	1	51,812,406 (GRCm39)	missense	possibly damaging	0.83
Phyllo	UTSW	1	51,815,413 (GRCm39)	missense	probably damaging	1.00
R7347_myo1b_243	UTSW	1	51,790,413 (GRCm39)	missense	probably damaging	1.00
R0007:Myo1b	UTSW	1	51,815,413 (GRCm39)	missense	probably damaging	1.00
R0007:Myo1b	UTSW	1	51,815,413 (GRCm39)	missense	probably damaging	1.00
R0035:Myo1b	UTSW	1	51,817,541 (GRCm39)	missense	probably damaging	1.00
R0040:Myo1b	UTSW	1	51,821,148 (GRCm39)	missense	probably damaging	1.00
R0040:Myo1b	UTSW	1	51,821,148 (GRCm39)	missense	probably damaging	1.00
R0491:Myo1b	UTSW	1	51,794,857 (GRCm39)	missense	probably benign	0.05
R0959:Myo1b	UTSW	1	51,836,246 (GRCm39)	missense	probably damaging	1.00
R1171:Myo1b	UTSW	1	51,817,684 (GRCm39)	missense	probably damaging	1.00
R1440:Myo1b	UTSW	1	51,817,717 (GRCm39)	splice site	probably benign
R1539:Myo1b	UTSW	1	51,838,722 (GRCm39)	missense	probably damaging	0.97
R1616:Myo1b	UTSW	1	51,815,474 (GRCm39)	missense	probably damaging	1.00
R1888:Myo1b	UTSW	1	51,799,562 (GRCm39)	critical splice acceptor site	probably null
R1888:Myo1b	UTSW	1	51,799,562 (GRCm39)	critical splice acceptor site	probably null
R2697:Myo1b	UTSW	1	51,902,517 (GRCm39)	missense	probably benign	0.04
R3034:Myo1b	UTSW	1	51,812,406 (GRCm39)	missense	possibly damaging	0.83
R3720:Myo1b	UTSW	1	51,815,505 (GRCm39)	missense	possibly damaging	0.79
R3896:Myo1b	UTSW	1	51,812,420 (GRCm39)	missense	probably damaging	0.97
R4003:Myo1b	UTSW	1	51,838,689 (GRCm39)	critical splice donor site	probably null
R4179:Myo1b	UTSW	1	51,817,685 (GRCm39)	missense	probably damaging	1.00
R4308:Myo1b	UTSW	1	51,922,268 (GRCm39)	missense	probably benign	0.01
R4444:Myo1b	UTSW	1	51,797,078 (GRCm39)	missense	probably damaging	0.99
R4679:Myo1b	UTSW	1	51,797,132 (GRCm39)	missense	possibly damaging	0.94
R4914:Myo1b	UTSW	1	51,863,367 (GRCm39)	splice site	probably null
R5343:Myo1b	UTSW	1	51,817,696 (GRCm39)	missense	probably benign	0.00
R5530:Myo1b	UTSW	1	51,836,582 (GRCm39)	missense	probably damaging	1.00
R5636:Myo1b	UTSW	1	51,836,687 (GRCm39)	missense	probably damaging	1.00
R5956:Myo1b	UTSW	1	51,815,391 (GRCm39)	missense	probably damaging	1.00
R5974:Myo1b	UTSW	1	51,817,532 (GRCm39)	missense	probably damaging	1.00
R6334:Myo1b	UTSW	1	51,807,810 (GRCm39)	missense	probably null	0.36
R6346:Myo1b	UTSW	1	51,823,666 (GRCm39)	missense	probably damaging	1.00
R6382:Myo1b	UTSW	1	51,813,466 (GRCm39)	splice site	probably null
R6757:Myo1b	UTSW	1	51,852,207 (GRCm39)	missense	probably damaging	1.00
R6952:Myo1b	UTSW	1	51,801,668 (GRCm39)	missense	probably damaging	0.99
R7101:Myo1b	UTSW	1	51,797,160 (GRCm39)	missense	probably benign	0.19
R7192:Myo1b	UTSW	1	51,796,376 (GRCm39)	missense	probably damaging	0.99
R7347:Myo1b	UTSW	1	51,790,413 (GRCm39)	missense	probably damaging	1.00
R7446:Myo1b	UTSW	1	51,803,065 (GRCm39)	missense	possibly damaging	0.87
R7468:Myo1b	UTSW	1	51,836,639 (GRCm39)	missense	possibly damaging	0.78
R7503:Myo1b	UTSW	1	51,815,761 (GRCm39)	splice site	probably null
R7586:Myo1b	UTSW	1	51,817,483 (GRCm39)	missense	probably damaging	0.99
R7712:Myo1b	UTSW	1	51,832,836 (GRCm39)	missense	probably damaging	1.00
R7871:Myo1b	UTSW	1	51,818,739 (GRCm39)	missense	possibly damaging	0.89
R7905:Myo1b	UTSW	1	51,803,043 (GRCm39)	splice site	probably null
R8093:Myo1b	UTSW	1	51,797,034 (GRCm39)	critical splice donor site	probably null
R8485:Myo1b	UTSW	1	51,818,760 (GRCm39)	missense	probably damaging	1.00
R8705:Myo1b	UTSW	1	51,902,495 (GRCm39)	nonsense	probably null
R8731:Myo1b	UTSW	1	51,799,570 (GRCm39)	splice site	probably benign
R8735:Myo1b	UTSW	1	51,794,896 (GRCm39)	missense	probably benign	0.27
R8859:Myo1b	UTSW	1	51,836,198 (GRCm39)	missense	probably damaging	1.00
R9021:Myo1b	UTSW	1	51,821,142 (GRCm39)	missense	possibly damaging	0.89
R9416:Myo1b	UTSW	1	51,902,577 (GRCm39)	missense	probably damaging	0.99
R9583:Myo1b	UTSW	1	51,796,404 (GRCm39)	missense	possibly damaging	0.79
R9713:Myo1b	UTSW	1	51,818,766 (GRCm39)	missense	possibly damaging	0.50
X0065:Myo1b	UTSW	1	51,836,554 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-01-21