Mutagenetix > Incidental Mutation

Incidental Mutation 'R8705:Myo1b'

669214

Institutional Source

Beutler Lab

Gene Symbol

Myo1b

Ensembl Gene

ENSMUSG00000018417

Gene Name

myosin IB

Synonyms

MMRRC Submission

068559-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.691) question?

Stock #

R8705 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51788917-51955143 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 51902495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 78 (Y78*)

Ref Sequence

ENSEMBL: ENSMUSP00000018561 (fasta)

Gene Model

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

AlphaFold

P46735

Predicted Effect

probably null
Transcript: ENSMUST00000018561
AA Change: Y78*

SMART Domains

Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: Y78*

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: Y78*

SMART Domains

Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: Y78*

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: Y78*

SMART Domains

Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: Y78*

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: Y84*

SMART Domains

Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: Y84*

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

probably null
Transcript: ENSMUST00000144694
AA Change: Y78*

SMART Domains

Protein: ENSMUSP00000114603
Gene: ENSMUSG00000018417
AA Change: Y78*

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

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	G	T	13: 4,484,447 (GRCm39)	G20W	probably damaging	Het
Ces1c	A	G	8: 93,857,518 (GRCm39)	L21P	probably benign	Het
Col11a2	G	T	17: 34,268,769 (GRCm39)	G394V	unknown	Het
Cyp2c70	A	G	19: 40,168,948 (GRCm39)	V113A	probably benign	Het
Foxp1	C	G	6: 98,993,507 (GRCm39)	Q132H	unknown	Het
Fras1	A	T	5: 96,839,260 (GRCm39)	D1593V	probably benign	Het
Frzb	G	A	2: 80,277,241 (GRCm39)		probably benign	Het
Gas6	T	C	8: 13,525,156 (GRCm39)	D276G	probably damaging	Het
Gdf7	C	T	12: 8,348,167 (GRCm39)	E377K	probably damaging	Het
Ggnbp2	A	G	11: 84,753,132 (GRCm39)	F36L	possibly damaging	Het
Gm40460	A	T	7: 141,794,734 (GRCm39)	C28S	unknown	Het
Hnrnpd	A	G	5: 100,111,588 (GRCm39)		probably benign	Het
Hsd17b11	G	A	5: 104,140,703 (GRCm39)	L265F	probably benign	Het
Hyal6	G	A	6: 24,734,673 (GRCm39)	R202H	probably benign	Het
Igkv5-43	A	G	6: 69,800,592 (GRCm39)	S32P	probably benign	Het
Kank1	A	G	19: 25,388,907 (GRCm39)	Y860C	probably damaging	Het
Krt79	G	A	15: 101,846,441 (GRCm39)	T169M	probably damaging	Het
Lama5	C	T	2: 179,820,354 (GRCm39)	C3296Y	probably damaging	Het
Ly75	A	T	2: 60,148,729 (GRCm39)	I1200K	probably damaging	Het
Napb	A	G	2: 148,542,396 (GRCm39)	V188A	probably benign	Het
Neb	T	C	2: 52,148,795 (GRCm39)	Y2584C	probably damaging	Het
Or52e8	T	C	7: 104,624,446 (GRCm39)	I253V	possibly damaging	Het
P4htm	G	A	9: 108,457,240 (GRCm39)	A381V	probably damaging	Het
Pcdha8	T	A	18: 37,126,906 (GRCm39)	F463I	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,775,612 (GRCm39)	T1030A	probably damaging	Het
Phrf1	T	A	7: 140,838,651 (GRCm39)	F615L	unknown	Het
Prrc2a	A	G	17: 35,372,542 (GRCm39)	S1700P	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Sf3b5	G	T	10: 12,884,554 (GRCm39)	R63L	probably damaging	Het
Sh3rf1	T	C	8: 61,802,591 (GRCm39)	L308P	probably damaging	Het
Slc7a2	A	T	8: 41,368,032 (GRCm39)	T599S	probably damaging	Het
Sox5	T	C	6: 143,987,012 (GRCm39)	N184S	possibly damaging	Het
Traf3	A	G	12: 111,208,938 (GRCm39)	E119G	possibly damaging	Het
Trim24	T	C	6: 37,880,588 (GRCm39)		probably benign	Het
Ubxn11	A	T	4: 133,853,551 (GRCm39)	I368F	probably damaging	Het
Vmn2r27	C	T	6: 124,207,188 (GRCm39)	G151D	probably damaging	Het
Wfdc16	T	A	2: 164,480,395 (GRCm39)	R33S	possibly damaging	Het
Zfp654	A	G	16: 64,605,433 (GRCm39)	V382A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGACTCTGCAGCAGAAATACTTTAC -3'
(R):5'- GAGAGGGTCAAATGCATCCC -3'

Sequencing Primer
(F):5'- ACCAGTATTTGCCTTAGTTTTTACGG -3'
(R):5'- GGTCAAATGCATCCCGTGTAC -3'

Posted On

2021-04-30