Mutagenetix > Incidental Mutations

Incidental Mutation 'R4308:Myo1b'

324079

Institutional Source

Beutler Lab

Gene Symbol

Myo1b

Ensembl Gene

ENSMUSG00000018417

Gene Name

myosin IB

Synonyms

MMRRC Submission

041659-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

R4308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51749765-51916071 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51883109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 37 (K37E)

Ref Sequence

ENSEMBL: ENSMUSP00000018561 (fasta)

Gene Model

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

AlphaFold

P46735

Predicted Effect

probably benign
Transcript: ENSMUST00000018561
AA Change: K37E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: K37E

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
AA Change: K37E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: K37E

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
AA Change: K37E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: K37E

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
AA Change: K43E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: K43E

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: ENSMUST00000126657

Predicted Effect

probably benign
Transcript: ENSMUST00000144694
AA Change: K37E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114603
Gene: ENSMUSG00000018417
AA Change: K37E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186817

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,440,192	T4425M	probably damaging	Het
Arhgef5	C	T	6: 43,279,498	A1180V	probably damaging	Het
Asap2	T	C	12: 21,229,481	I426T	probably damaging	Het
Ascc1	T	G	10: 60,013,612	H108Q	probably benign	Het
Bod1l	A	T	5: 41,791,813	S2989T	possibly damaging	Het
Cfap157	G	A	2: 32,779,042	R350W	probably damaging	Het
Cyp39a1	T	A	17: 43,730,964		probably null	Het
Dars2	A	G	1: 161,041,721	S653P	probably damaging	Het
Fam208b	A	C	13: 3,569,498	S2244R	probably damaging	Het
Fancm	A	T	12: 65,126,531	K1872N	probably benign	Het
Fktn	C	T	4: 53,724,617		probably benign	Het
Gpr33	A	T	12: 52,023,640	C205*	probably null	Het
Gsdmc2	A	G	15: 63,848,705		probably benign	Het
Il31	A	G	5: 123,480,706	S6P	probably damaging	Het
Iqca	T	C	1: 90,144,897	K87R	probably damaging	Het
Kif15	T	G	9: 123,013,982	H47Q	probably benign	Het
L3mbtl3	C	T	10: 26,282,792	A653T	unknown	Het
Lamb1	T	C	12: 31,329,255	L1737P	probably damaging	Het
Map2k5	C	G	9: 63,235,304	R353S	probably benign	Het
Mical2	C	A	7: 112,331,992	L721I	probably benign	Het
Myo5b	A	G	18: 74,731,740	D1369G	possibly damaging	Het
Npc1	C	T	18: 12,210,527	A470T	possibly damaging	Het
Olfr1148	T	C	2: 87,833,270	I77T	probably damaging	Het
Olfr116	C	T	17: 37,623,736	V300I	possibly damaging	Het
Pcdhb1	A	T	18: 37,266,661	D555V	probably benign	Het
Prr27	A	G	5: 87,842,907	H126R	probably benign	Het
Rbm20	A	G	19: 53,843,260	S642G	probably damaging	Het
Rnf144b	A	G	13: 47,242,942	N252D	probably damaging	Het
Rnf219	T	A	14: 104,479,593	N448I	probably damaging	Het
Rwdd2b	A	T	16: 87,436,727	W162R	probably damaging	Het
Scaf11	A	G	15: 96,446,515	M19T	probably benign	Het
Sft2d2	A	G	1: 165,188,264	I45T	probably benign	Het
Skint5	A	T	4: 113,483,967	H1371Q	unknown	Het
Tas2r124	A	G	6: 132,754,991	I88V	probably benign	Het
Ubr4	T	C	4: 139,472,509	V4568A	possibly damaging	Het
Vmn2r12	A	G	5: 109,086,006	L780P	probably damaging	Het
Vmn2r18	A	T	5: 151,584,803	Y285*	probably null	Het
Wnk2	C	T	13: 49,090,837	D508N	probably damaging	Het
Zfp983	A	G	17: 21,662,208	I351V	probably benign	Het

Other mutations in Myo1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Myo1b	APN	1	51763954	missense	possibly damaging	0.94
IGL00943:Myo1b	APN	1	51784487	missense	probably damaging	0.97
IGL01537:Myo1b	APN	1	51776351	missense	possibly damaging	0.93
IGL01550:Myo1b	APN	1	51784531	missense	probably damaging	1.00
IGL01610:Myo1b	APN	1	51776246	missense	probably damaging	1.00
IGL01667:Myo1b	APN	1	51760377	missense	probably damaging	1.00
IGL01743:Myo1b	APN	1	51782020	missense	probably damaging	0.96
IGL01830:Myo1b	APN	1	51797465	nonsense	probably null
IGL02070:Myo1b	APN	1	51794337	missense	probably damaging	1.00
IGL02398:Myo1b	APN	1	51757891	missense	probably damaging	1.00
IGL02582:Myo1b	APN	1	51781974	missense	possibly damaging	0.88
IGL02685:Myo1b	APN	1	51778499	missense	probably damaging	1.00
IGL02938:Myo1b	APN	1	51801178	splice site	probably null
IGL02981:Myo1b	APN	1	51778373	missense	probably damaging	1.00
R0007_myo1b_457	UTSW	1	51776254	missense	probably damaging	1.00
R3034_myo1b_762	UTSW	1	51773247	missense	possibly damaging	0.83
R7347_myo1b_243	UTSW	1	51751254	missense	probably damaging	1.00
R0007:Myo1b	UTSW	1	51776254	missense	probably damaging	1.00
R0007:Myo1b	UTSW	1	51776254	missense	probably damaging	1.00
R0035:Myo1b	UTSW	1	51778382	missense	probably damaging	1.00
R0040:Myo1b	UTSW	1	51781989	missense	probably damaging	1.00
R0040:Myo1b	UTSW	1	51781989	missense	probably damaging	1.00
R0491:Myo1b	UTSW	1	51755698	missense	probably benign	0.05
R0959:Myo1b	UTSW	1	51797087	missense	probably damaging	1.00
R1171:Myo1b	UTSW	1	51778525	missense	probably damaging	1.00
R1440:Myo1b	UTSW	1	51778558	splice site	probably benign
R1539:Myo1b	UTSW	1	51799563	missense	probably damaging	0.97
R1616:Myo1b	UTSW	1	51776315	missense	probably damaging	1.00
R1888:Myo1b	UTSW	1	51760403	critical splice acceptor site	probably null
R1888:Myo1b	UTSW	1	51760403	critical splice acceptor site	probably null
R2697:Myo1b	UTSW	1	51863358	missense	probably benign	0.04
R3034:Myo1b	UTSW	1	51773247	missense	possibly damaging	0.83
R3720:Myo1b	UTSW	1	51776346	missense	possibly damaging	0.79
R3896:Myo1b	UTSW	1	51773261	missense	probably damaging	0.97
R4003:Myo1b	UTSW	1	51799530	critical splice donor site	probably null
R4179:Myo1b	UTSW	1	51778526	missense	probably damaging	1.00
R4444:Myo1b	UTSW	1	51757919	missense	probably damaging	0.99
R4679:Myo1b	UTSW	1	51757973	missense	possibly damaging	0.94
R4914:Myo1b	UTSW	1	51824208	splice site	probably null
R5343:Myo1b	UTSW	1	51778537	missense	probably benign	0.00
R5530:Myo1b	UTSW	1	51797423	missense	probably damaging	1.00
R5636:Myo1b	UTSW	1	51797528	missense	probably damaging	1.00
R5956:Myo1b	UTSW	1	51776232	missense	probably damaging	1.00
R5974:Myo1b	UTSW	1	51778373	missense	probably damaging	1.00
R6334:Myo1b	UTSW	1	51768651	missense	probably null	0.36
R6346:Myo1b	UTSW	1	51784507	missense	probably damaging	1.00
R6382:Myo1b	UTSW	1	51774307	splice site	probably null
R6757:Myo1b	UTSW	1	51813048	missense	probably damaging	1.00
R6952:Myo1b	UTSW	1	51762509	missense	probably damaging	0.99
R7101:Myo1b	UTSW	1	51758001	missense	probably benign	0.19
R7192:Myo1b	UTSW	1	51757217	missense	probably damaging	0.99
R7347:Myo1b	UTSW	1	51751254	missense	probably damaging	1.00
R7446:Myo1b	UTSW	1	51763906	missense	possibly damaging	0.87
R7468:Myo1b	UTSW	1	51797480	missense	possibly damaging	0.78
R7503:Myo1b	UTSW	1	51776602	splice site	probably null
R7586:Myo1b	UTSW	1	51778324	missense	probably damaging	0.99
R7712:Myo1b	UTSW	1	51793677	missense	probably damaging	1.00
R7871:Myo1b	UTSW	1	51779580	missense	possibly damaging	0.89
R7905:Myo1b	UTSW	1	51763884	splice site	probably null
R8093:Myo1b	UTSW	1	51757875	critical splice donor site	probably null
R8485:Myo1b	UTSW	1	51779601	missense	probably damaging	1.00
R8705:Myo1b	UTSW	1	51863336	nonsense	probably null
R8731:Myo1b	UTSW	1	51760411	splice site	probably benign
R8735:Myo1b	UTSW	1	51755737	missense	probably benign	0.27
R8859:Myo1b	UTSW	1	51797039	missense	probably damaging	1.00
R9021:Myo1b	UTSW	1	51781983	missense	possibly damaging	0.89
R9416:Myo1b	UTSW	1	51863418	missense	probably damaging	0.99
X0065:Myo1b	UTSW	1	51797395	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAACACCGCCCTTGTGCTAG -3'
(R):5'- AGAACTCACCTGAAAGTTTTGCTC -3'

Sequencing Primer
(F):5'- AGTGTGACCTCAACCCATGTG -3'
(R):5'- CCTGAAAGTTTTGCTCATAGACCTG -3'

Posted On

2015-06-24