Mutagenetix > Incidental Mutation

Incidental Mutation 'R8731:Myo1b'

677011

Institutional Source

Beutler Lab

Gene Symbol

Myo1b

Ensembl Gene

ENSMUSG00000018417

Gene Name

myosin IB

Synonyms

MMRRC Submission

068579-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.691) question?

Stock #

R8731 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51788917-51955143 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 51799570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110188 (fasta)

Gene Model

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

AlphaFold

P46735

Predicted Effect

probably benign
Transcript: ENSMUST00000018561

SMART Domains

Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417

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 benign
Transcript: ENSMUST00000046390

SMART Domains

Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417

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 benign
Transcript: ENSMUST00000114537

SMART Domains

Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417

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 benign
Transcript: ENSMUST00000114541

SMART Domains

Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 95.9%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,932,367 (GRCm39)	D294V	probably benign	Het
Abcc8	T	G	7: 45,803,986 (GRCm39)	Y396S	probably damaging	Het
Ace	T	A	11: 105,861,426 (GRCm39)	F192I	possibly damaging	Het
Apeh	A	G	9: 107,964,422 (GRCm39)	S494P	probably benign	Het
Bod1	A	G	11: 31,619,242 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,800,006 (GRCm39)	M404T	probably benign	Het
Cc2d2a	A	T	5: 43,892,788 (GRCm39)	D1450V	probably damaging	Het
Cdk5rap2	A	T	4: 70,163,747 (GRCm39)		probably benign	Het
Clip1	A	C	5: 123,752,756 (GRCm39)	S342A		Het
Cox10	A	G	11: 63,855,045 (GRCm39)	F412S	probably damaging	Het
Cracr2a	T	G	6: 127,602,890 (GRCm39)		probably null	Het
Dcaf7	T	A	11: 105,945,548 (GRCm39)	M299K	possibly damaging	Het
Dffb	T	C	4: 154,059,101 (GRCm39)	T59A	possibly damaging	Het
Dgkd	A	G	1: 87,844,535 (GRCm39)	M234V	possibly damaging	Het
Disp1	A	T	1: 182,869,072 (GRCm39)	V1116E	possibly damaging	Het
Dpysl3	C	T	18: 43,571,157 (GRCm39)	C39Y	probably damaging	Het
Dync1h1	T	A	12: 110,607,018 (GRCm39)	V2565D	possibly damaging	Het
Fam227b	A	T	2: 125,968,898 (GRCm39)	Y59N	possibly damaging	Het
Gm21680	A	T	5: 26,173,230 (GRCm39)	V210D	probably damaging	Het
Gm57858	A	T	3: 36,089,434 (GRCm39)	N163K	probably benign	Het
Gnas	T	C	2: 174,126,699 (GRCm39)	V78A	probably benign	Het
Gpr179	T	C	11: 97,234,555 (GRCm39)	T509A	probably damaging	Het
Igfn1	A	G	1: 135,925,574 (GRCm39)	M60T	probably benign	Het
Llgl2	A	G	11: 115,742,016 (GRCm39)	Q686R	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk3	T	G	8: 86,085,634 (GRCm39)	E300A	probably benign	Het
Myo9b	T	C	8: 71,806,486 (GRCm39)		probably null	Het
Nalcn	T	C	14: 123,837,266 (GRCm39)	I33V	probably benign	Het
Nsl1	A	G	1: 190,814,609 (GRCm39)	Y270C	probably damaging	Het
Or5af1	C	T	11: 58,722,268 (GRCm39)	A96V	probably benign	Het
Otulin	A	G	15: 27,608,928 (GRCm39)	M205T	probably benign	Het
Plch1	A	T	3: 63,605,059 (GRCm39)	V1615E	probably benign	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Scn3a	A	T	2: 65,298,507 (GRCm39)	Y1397*	probably null	Het
Scrib	A	T	15: 75,935,488 (GRCm39)	H549Q	probably benign	Het
Slc36a4	A	G	9: 15,631,048 (GRCm39)	I56V	possibly damaging	Het
Spata7	T	A	12: 98,624,541 (GRCm39)	S148T	probably damaging	Het
Stk31	T	A	6: 49,415,435 (GRCm39)	L590Q	probably benign	Het
Tanc1	T	C	2: 59,673,596 (GRCm39)	V1567A	probably benign	Het
Tspan33	T	C	6: 29,717,310 (GRCm39)	F237S	probably damaging	Het
Uhrf1	T	A	17: 56,629,363 (GRCm39)	L737Q	probably damaging	Het
Vmn2r2	A	G	3: 64,024,404 (GRCm39)	F726L	probably benign	Het
Vmn2r65	A	T	7: 84,589,447 (GRCm39)	L823*	probably null	Het
Vps11	T	C	9: 44,265,756 (GRCm39)	N508D	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAATGGCTTCGGAAATCATTC -3'
(R):5'- TCCCAGATTCTACAATGCAAATGG -3'

Sequencing Primer
(F):5'- TGGCTTCGGAAATCATTCACAAAAC -3'
(R):5'- ATTCTACAATGCAAATGGTTCATAAC -3'

Posted On

2021-07-28