Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01830:Myo1b'

154757

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 #

IGL01830

Quality Score

Status

Chromosome

Chromosomal Location

51788917-51955143 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 51836624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 279 (L279*)

Ref Sequence

ENSEMBL: ENSMUSP00000114603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018561] [ENSMUST00000046390] [ENSMUST00000114537] [ENSMUST00000114541] [ENSMUST00000144694]

AlphaFold

P46735

Predicted Effect

probably null
Transcript: ENSMUST00000018561
AA Change: L279*

SMART Domains

Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: L279*

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

probably null
Transcript: ENSMUST00000046390
AA Change: L279*

SMART Domains

Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: L279*

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

probably null
Transcript: ENSMUST00000114537
AA Change: L279*

SMART Domains

Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: L279*

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

probably null
Transcript: ENSMUST00000114541
AA Change: L285*

SMART Domains

Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: L285*

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: ENSMUST00000135125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136701

Predicted Effect

probably null
Transcript: ENSMUST00000144694
AA Change: L279*

SMART Domains

Protein: ENSMUSP00000114603
Gene: ENSMUSG00000018417
AA Change: L279*

Domain	Start	End	E-Value	Type
MYSc	9	299	4.69e-32	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsg	C	A	16: 22,717,779 (GRCm39)	P252Q	probably damaging	Het
Anks4b	T	A	7: 119,773,219 (GRCm39)	N26K	probably damaging	Het
Arrdc5	C	T	17: 56,601,652 (GRCm39)	V158I	probably damaging	Het
Catsper2	T	C	2: 121,237,843 (GRCm39)	D179G	probably damaging	Het
Cd44	T	C	2: 102,672,603 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,888,925 (GRCm39)	D231E	possibly damaging	Het
Cep57l1	C	T	10: 41,604,649 (GRCm39)	C160Y	probably benign	Het
Chek2	T	A	5: 111,021,374 (GRCm39)	L528Q	probably benign	Het
Ciita	T	C	16: 10,338,915 (GRCm39)	L973P	probably damaging	Het
Dock2	A	T	11: 34,582,744 (GRCm39)	L637*	probably null	Het
Fsip2	A	C	2: 82,815,273 (GRCm39)	I3669L	probably benign	Het
Gapvd1	A	G	2: 34,578,968 (GRCm39)	V1218A	probably benign	Het
Gip	T	C	11: 95,919,550 (GRCm39)	L91S	possibly damaging	Het
Gp2	T	C	7: 119,050,765 (GRCm39)	D322G	probably damaging	Het
Ift172	A	G	5: 31,442,636 (GRCm39)	V177A	probably damaging	Het
Kng2	T	C	16: 22,806,801 (GRCm39)	D466G	probably damaging	Het
Lpar5	G	A	6: 125,058,785 (GRCm39)	A169T	probably benign	Het
Med13	C	T	11: 86,179,754 (GRCm39)		probably benign	Het
Meiob	T	A	17: 25,054,105 (GRCm39)	C391S	probably benign	Het
Mgat5	A	G	1: 127,339,869 (GRCm39)	T417A	probably damaging	Het
Myo1g	T	A	11: 6,464,522 (GRCm39)	K513*	probably null	Het
Nxpe2	A	T	9: 48,237,794 (GRCm39)	S154T	probably damaging	Het
Ogn	C	T	13: 49,762,723 (GRCm39)	Q22*	probably null	Het
Or4c12	A	G	2: 89,773,775 (GRCm39)	L228S	probably benign	Het
Pacs2	A	T	12: 113,020,574 (GRCm39)	K316*	probably null	Het
Pelo	T	A	13: 115,225,131 (GRCm39)	I365F	probably damaging	Het
Phf3	G	A	1: 30,853,148 (GRCm39)	Q1021*	probably null	Het
Pik3r4	A	G	9: 105,522,154 (GRCm39)	D240G	probably damaging	Het
Pknox1	T	C	17: 31,814,284 (GRCm39)	M203T	probably benign	Het
Pld1	T	C	3: 28,102,153 (GRCm39)		probably benign	Het
Rabgef1	G	T	5: 130,240,907 (GRCm39)	C342F	possibly damaging	Het
Rbm19	A	C	5: 120,262,760 (GRCm39)	K307T	possibly damaging	Het
Sdcbp2	T	A	2: 151,431,494 (GRCm39)	I289N	probably damaging	Het
Slc5a12	G	A	2: 110,428,151 (GRCm39)	G69R	probably damaging	Het
Spag1	C	A	15: 36,221,705 (GRCm39)	S599R	probably benign	Het
Ubr4	A	T	4: 139,199,811 (GRCm39)	D4565V	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het
Vmn1r225	T	C	17: 20,722,717 (GRCm39)	S53P	probably damaging	Het
Xrcc1	T	A	7: 24,272,767 (GRCm39)		probably benign	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
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
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

2014-02-04