Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Myo1c'

177943

Institutional Source

Beutler Lab

Gene Symbol

Myo1c

Ensembl Gene

ENSMUSG00000017774

Gene Name

myosin IC

Synonyms

C80397, myosin-Ibeta, myr2, mm1beta

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R0257 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75650504-75673910 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 75665516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069057] [ENSMUST00000102504] [ENSMUST00000102505] [ENSMUST00000102505] [ENSMUST00000108431]

AlphaFold

Q9WTI7

Predicted Effect

probably null
Transcript: ENSMUST00000069057

SMART Domains

Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774

Domain	Start	End	E-Value	Type
MYSc	5	697	N/A	SMART
IQ	698	720	3.85e-3	SMART
IQ	721	743	2.09e-4	SMART
Blast:MYSc	751	780	5e-9	BLAST
low complexity region	804	815	N/A	INTRINSIC
Pfam:Myosin_TH1	838	1024	1.9e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102504

SMART Domains

Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774

Domain	Start	End	E-Value	Type
MYSc	5	697	N/A	SMART
IQ	698	720	3.85e-3	SMART
IQ	721	743	2.09e-4	SMART
Blast:MYSc	751	780	5e-9	BLAST
low complexity region	804	815	N/A	INTRINSIC
Pfam:Myosin_TH1	838	1024	1.9e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102505

SMART Domains

Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774

Domain	Start	End	E-Value	Type
MYSc	40	732	N/A	SMART
IQ	733	755	3.85e-3	SMART
IQ	756	778	2.09e-4	SMART
Blast:MYSc	786	815	6e-9	BLAST
low complexity region	839	850	N/A	INTRINSIC
Pfam:Myosin_TH1	874	1052	2.9e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102505

SMART Domains

Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774

Domain	Start	End	E-Value	Type
MYSc	40	732	N/A	SMART
IQ	733	755	3.85e-3	SMART
IQ	756	778	2.09e-4	SMART
Blast:MYSc	786	815	6e-9	BLAST
low complexity region	839	850	N/A	INTRINSIC
Pfam:Myosin_TH1	874	1052	2.9e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108431

SMART Domains

Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774

Domain	Start	End	E-Value	Type
MYSc	21	713	N/A	SMART
IQ	714	736	3.85e-3	SMART
IQ	737	759	2.09e-4	SMART
Blast:MYSc	767	796	5e-9	BLAST
low complexity region	820	831	N/A	INTRINSIC
Pfam:Myosin_TH1	854	1040	3.3e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155027

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The protein functions in intracellular vesicle transport to the plasma membrane. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in (Y61G) mutation that sensitizes to N6-modified ADP analogs display altered fast adaption in vestibular hair cells. Mice homozygous for a nuclear isoform-specifc knock-out allele exhibit minor changes in bone marrow density and red blood cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Myo1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Myo1c	APN	11	75672250	missense	probably damaging	1.00
IGL02054:Myo1c	APN	11	75661136	missense	probably benign	0.30
IGL02115:Myo1c	APN	11	75661591	missense	probably damaging	0.99
IGL02375:Myo1c	APN	11	75661574	missense	probably benign	0.00
IGL02878:Myo1c	APN	11	75669033	missense	possibly damaging	0.93
IGL03008:Myo1c	APN	11	75658414	missense	probably benign	0.13
Sweeper	UTSW	11	75670030	nonsense	probably null
R0070:Myo1c	UTSW	11	75660250	missense	probably benign	0.39
R0070:Myo1c	UTSW	11	75660250	missense	probably benign	0.39
R0138:Myo1c	UTSW	11	75661001	missense	possibly damaging	0.92
R0200:Myo1c	UTSW	11	75672182	missense	probably benign	0.00
R0227:Myo1c	UTSW	11	75658694	missense	probably benign	0.34
R0513:Myo1c	UTSW	11	75665831	splice site	probably null
R0587:Myo1c	UTSW	11	75657790	missense	probably damaging	1.00
R0667:Myo1c	UTSW	11	75668512	missense	probably damaging	1.00
R1469:Myo1c	UTSW	11	75669961	missense	probably damaging	1.00
R1469:Myo1c	UTSW	11	75669961	missense	probably damaging	1.00
R1793:Myo1c	UTSW	11	75657589	missense	probably damaging	0.98
R1922:Myo1c	UTSW	11	75668229	missense	probably benign
R2000:Myo1c	UTSW	11	75670579	missense	probably damaging	1.00
R3983:Myo1c	UTSW	11	75661499	missense	probably benign	0.05
R4583:Myo1c	UTSW	11	75671862	missense	possibly damaging	0.72
R4599:Myo1c	UTSW	11	75668193	missense	probably damaging	0.99
R4671:Myo1c	UTSW	11	75670030	nonsense	probably null
R4682:Myo1c	UTSW	11	75670030	nonsense	probably null
R4708:Myo1c	UTSW	11	75670030	nonsense	probably null
R4709:Myo1c	UTSW	11	75670030	nonsense	probably null
R4742:Myo1c	UTSW	11	75670030	nonsense	probably null
R4770:Myo1c	UTSW	11	75660313	nonsense	probably null
R4888:Myo1c	UTSW	11	75669227	missense	probably damaging	1.00
R4915:Myo1c	UTSW	11	75656309	start codon destroyed	probably null
R4934:Myo1c	UTSW	11	75671850	missense	probably damaging	1.00
R4971:Myo1c	UTSW	11	75671588	missense	probably damaging	1.00
R5319:Myo1c	UTSW	11	75662026	missense	possibly damaging	0.95
R5589:Myo1c	UTSW	11	75657588	missense	possibly damaging	0.74
R5624:Myo1c	UTSW	11	75662635	missense	probably damaging	0.99
R5756:Myo1c	UTSW	11	75658414	missense	probably benign	0.42
R5959:Myo1c	UTSW	11	75657519	missense	probably benign	0.37
R6160:Myo1c	UTSW	11	75650742	missense	probably benign	0.00
R6559:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6568:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6569:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6574:Myo1c	UTSW	11	75656298	start gained	probably benign
R6579:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6580:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6583:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6640:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6642:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6643:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6679:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6680:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6687:Myo1c	UTSW	11	75672201	missense	probably benign
R6695:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6696:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6700:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6712:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6713:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R6715:Myo1c	UTSW	11	75671635	missense	probably benign	0.42
R7081:Myo1c	UTSW	11	75660963	missense	probably benign
R7265:Myo1c	UTSW	11	75669790	missense	possibly damaging	0.89
R7397:Myo1c	UTSW	11	75671242	missense	probably benign	0.17
R7586:Myo1c	UTSW	11	75657519	missense	possibly damaging	0.77
R7714:Myo1c	UTSW	11	75658693	missense	probably damaging	1.00
R8260:Myo1c	UTSW	11	75656116	unclassified	probably benign
R8341:Myo1c	UTSW	11	75671427	missense	probably benign	0.42
R8466:Myo1c	UTSW	11	75658387	missense	probably damaging	1.00
R8771:Myo1c	UTSW	11	75665883	missense	probably benign
R8829:Myo1c	UTSW	11	75670246	missense	probably benign	0.03
R8832:Myo1c	UTSW	11	75670246	missense	probably benign	0.03
R9243:Myo1c	UTSW	11	75650611	unclassified	probably benign
R9489:Myo1c	UTSW	11	75669073	missense	probably benign	0.00
R9605:Myo1c	UTSW	11	75669073	missense	probably benign	0.00
R9744:Myo1c	UTSW	11	75671971	missense	probably damaging	1.00
R9782:Myo1c	UTSW	11	75658447	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTGAGCCCAAGTTCCTATTCC -3'
(R):5'- TGCACATGGTCTGTGAGGCAGAAG -3'

Sequencing Primer
(F):5'- AGTTGTGCATCCCTGGAC -3'
(R):5'- TTTATCCAGAAACCCTGGAAAGG -3'

Posted On

2014-05-06