Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00540:Myo1b'

7487

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 #

IGL00540

Quality Score

Status

Chromosome

Chromosomal Location

51788917-51955143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51803113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 856 (E856G)

Ref Sequence

ENSEMBL: ENSMUSP00000018561 (fasta)

Gene Model

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

AlphaFold

P46735

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018561
AA Change: E856G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: E856G

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: E827G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: E827G

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: E798G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: E798G

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: E804G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: E804G

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: ENSMUST00000136273

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	G	T	13: 19,304,776 (GRCm39)	G398V	probably damaging	Het
C2cd3	T	G	7: 100,040,335 (GRCm39)	S301R	probably benign	Het
Calr	G	A	8: 85,571,373 (GRCm39)	P178S	possibly damaging	Het
Cbll1	G	T	12: 31,537,940 (GRCm39)	P271T	probably damaging	Het
Ccl7	A	T	11: 81,937,888 (GRCm39)	D89V	probably damaging	Het
Cd82	T	A	2: 93,251,004 (GRCm39)	I179F	probably null	Het
Cdh10	A	T	15: 18,964,081 (GRCm39)	D81V	probably damaging	Het
Cenpo	A	G	12: 4,266,685 (GRCm39)	V141A	probably benign	Het
Dnah11	A	G	12: 118,150,657 (GRCm39)	V367A	probably benign	Het
Fam161b	T	C	12: 84,408,525 (GRCm39)		probably benign	Het
Gemin5	G	A	11: 58,051,644 (GRCm39)	P268S	probably damaging	Het
Gm5965	T	A	16: 88,575,228 (GRCm39)	C134S	probably damaging	Het
Icam4	C	A	9: 20,941,382 (GRCm39)	R174S	possibly damaging	Het
Kdm5a	T	A	6: 120,362,680 (GRCm39)		probably null	Het
Klhl10	A	G	11: 100,336,244 (GRCm39)	K77R	probably benign	Het
Mrgprb1	A	T	7: 48,097,291 (GRCm39)	V207E	probably damaging	Het
Myh10	A	G	11: 68,681,534 (GRCm39)	N1067S	probably benign	Het
Nbea	T	C	3: 55,535,914 (GRCm39)	Y2890C	probably damaging	Het
Pcdhb16	T	C	18: 37,612,851 (GRCm39)	S604P	probably damaging	Het
Pelp1	A	T	11: 70,285,638 (GRCm39)	D743E	possibly damaging	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Rab25	A	G	3: 88,452,546 (GRCm39)	S21P	probably damaging	Het
Spata31e2	A	G	1: 26,724,058 (GRCm39)	I374T	probably benign	Het
Sspo	G	A	6: 48,475,147 (GRCm39)		probably benign	Het
Ssr1	T	C	13: 38,167,407 (GRCm39)	D252G	probably damaging	Het
Stx1b	T	C	7: 127,409,870 (GRCm39)	E19G	probably damaging	Het
Tbc1d23	T	A	16: 56,992,139 (GRCm39)	E607V	probably damaging	Het
Tchhl1	A	G	3: 93,378,230 (GRCm39)	I311M	probably benign	Het
Trpm6	C	T	19: 18,761,272 (GRCm39)		probably benign	Het

Other mutations in Myo1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL01667:Myo1b	APN	1	51,799,536 (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

2012-04-20