Mutagenetix > Incidental Mutation

Incidental Mutation 'R6568:Myo1c'

526169

Institutional Source

Beutler Lab

Gene Symbol

Myo1c

Ensembl Gene

ENSMUSG00000017774

Gene Name

myosin IC

Synonyms

myr2, mm1beta, C80397, myosin-Ibeta

MMRRC Submission

044692-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.684) question?

Stock #

R6568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75541330-75564736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75562461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 918 (P918S)

Ref Sequence

ENSEMBL: ENSMUSP00000104069 (fasta)

Gene Model

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

AlphaFold

Q9WTI7

Predicted Effect

probably benign
Transcript: ENSMUST00000069057
AA Change: P902S

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

SMART Domains

Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: P902S

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 benign
Transcript: ENSMUST00000102504
AA Change: P902S

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

SMART Domains

Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: P902S

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 benign
Transcript: ENSMUST00000102505
AA Change: P937S

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

SMART Domains

Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: P937S

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 benign
Transcript: ENSMUST00000108431
AA Change: P918S

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: P918S

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: ENSMUST00000151174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155027

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	C	1: 138,779,872 (GRCm39)	K127E	possibly damaging	Het
Ash1l	G	A	3: 88,959,344 (GRCm39)	M2240I	probably benign	Het
Bhmt1b	A	T	18: 87,775,566 (GRCm39)	Y363F	probably benign	Het
Ccr5	G	A	9: 123,925,236 (GRCm39)	A280T	probably damaging	Het
Ceacam5	C	T	7: 17,479,416 (GRCm39)	L178F	probably damaging	Het
Col2a1	T	C	15: 97,875,157 (GRCm39)	N1259S	unknown	Het
Doc2b	A	C	11: 75,667,820 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,216,859 (GRCm39)	N2144D	probably damaging	Het
Hdac1-ps	A	G	17: 78,800,017 (GRCm39)	Y336C	probably damaging	Het
Ighv1-34	A	T	12: 114,815,231 (GRCm39)	W5R	probably benign	Het
Kdr	A	G	5: 76,122,434 (GRCm39)	V497A	probably benign	Het
Miip	T	A	4: 147,950,372 (GRCm39)	M75L	probably benign	Het
Mplkip	T	C	13: 17,870,262 (GRCm39)	S65P	probably damaging	Het
Ms4a13	A	G	19: 11,168,923 (GRCm39)	L34P	probably damaging	Het
Nek1	T	C	8: 61,559,855 (GRCm39)	S896P	probably benign	Het
Or5ac17	A	T	16: 59,036,641 (GRCm39)	C112S	probably benign	Het
Polr3b	T	A	10: 84,470,767 (GRCm39)	M136K	probably damaging	Het
Rgsl1	A	C	1: 153,697,292 (GRCm39)	W508G	possibly damaging	Het
Ros1	A	T	10: 52,038,908 (GRCm39)	M354K	probably damaging	Het
Slc34a2	T	C	5: 53,226,476 (GRCm39)	L533P	probably damaging	Het
Taf2	G	A	15: 54,928,026 (GRCm39)	L126F	probably damaging	Het
Tlr12	T	C	4: 128,511,785 (GRCm39)	D155G	probably benign	Het
Trpm2	C	T	10: 77,773,660 (GRCm39)	R585Q	probably benign	Het
Zfp942	T	G	17: 22,148,043 (GRCm39)	K195N	probably benign	Het

Other mutations in Myo1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Myo1c	APN	11	75,563,076 (GRCm39)	missense	probably damaging	1.00
IGL02054:Myo1c	APN	11	75,551,962 (GRCm39)	missense	probably benign	0.30
IGL02115:Myo1c	APN	11	75,552,417 (GRCm39)	missense	probably damaging	0.99
IGL02375:Myo1c	APN	11	75,552,400 (GRCm39)	missense	probably benign	0.00
IGL02878:Myo1c	APN	11	75,559,859 (GRCm39)	missense	possibly damaging	0.93
IGL03008:Myo1c	APN	11	75,549,240 (GRCm39)	missense	probably benign	0.13
Sweeper	UTSW	11	75,560,856 (GRCm39)	nonsense	probably null
R0070:Myo1c	UTSW	11	75,551,076 (GRCm39)	missense	probably benign	0.39
R0070:Myo1c	UTSW	11	75,551,076 (GRCm39)	missense	probably benign	0.39
R0138:Myo1c	UTSW	11	75,551,827 (GRCm39)	missense	possibly damaging	0.92
R0200:Myo1c	UTSW	11	75,563,008 (GRCm39)	missense	probably benign	0.00
R0227:Myo1c	UTSW	11	75,549,520 (GRCm39)	missense	probably benign	0.34
R0257:Myo1c	UTSW	11	75,556,342 (GRCm39)	critical splice acceptor site	probably null
R0513:Myo1c	UTSW	11	75,556,657 (GRCm39)	splice site	probably null
R0587:Myo1c	UTSW	11	75,548,616 (GRCm39)	missense	probably damaging	1.00
R0667:Myo1c	UTSW	11	75,559,338 (GRCm39)	missense	probably damaging	1.00
R1469:Myo1c	UTSW	11	75,560,787 (GRCm39)	missense	probably damaging	1.00
R1469:Myo1c	UTSW	11	75,560,787 (GRCm39)	missense	probably damaging	1.00
R1793:Myo1c	UTSW	11	75,548,415 (GRCm39)	missense	probably damaging	0.98
R1922:Myo1c	UTSW	11	75,559,055 (GRCm39)	missense	probably benign
R2000:Myo1c	UTSW	11	75,561,405 (GRCm39)	missense	probably damaging	1.00
R3983:Myo1c	UTSW	11	75,552,325 (GRCm39)	missense	probably benign	0.05
R4583:Myo1c	UTSW	11	75,562,688 (GRCm39)	missense	possibly damaging	0.72
R4599:Myo1c	UTSW	11	75,559,019 (GRCm39)	missense	probably damaging	0.99
R4671:Myo1c	UTSW	11	75,560,856 (GRCm39)	nonsense	probably null
R4682:Myo1c	UTSW	11	75,560,856 (GRCm39)	nonsense	probably null
R4708:Myo1c	UTSW	11	75,560,856 (GRCm39)	nonsense	probably null
R4709:Myo1c	UTSW	11	75,560,856 (GRCm39)	nonsense	probably null
R4742:Myo1c	UTSW	11	75,560,856 (GRCm39)	nonsense	probably null
R4770:Myo1c	UTSW	11	75,551,139 (GRCm39)	nonsense	probably null
R4888:Myo1c	UTSW	11	75,560,053 (GRCm39)	missense	probably damaging	1.00
R4915:Myo1c	UTSW	11	75,547,135 (GRCm39)	start codon destroyed	probably null
R4934:Myo1c	UTSW	11	75,562,676 (GRCm39)	missense	probably damaging	1.00
R4971:Myo1c	UTSW	11	75,562,414 (GRCm39)	missense	probably damaging	1.00
R5319:Myo1c	UTSW	11	75,552,852 (GRCm39)	missense	possibly damaging	0.95
R5589:Myo1c	UTSW	11	75,548,414 (GRCm39)	missense	possibly damaging	0.74
R5624:Myo1c	UTSW	11	75,553,461 (GRCm39)	missense	probably damaging	0.99
R5756:Myo1c	UTSW	11	75,549,240 (GRCm39)	missense	probably benign	0.42
R5959:Myo1c	UTSW	11	75,548,345 (GRCm39)	missense	probably benign	0.37
R6160:Myo1c	UTSW	11	75,541,568 (GRCm39)	missense	probably benign	0.00
R6559:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6569:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6574:Myo1c	UTSW	11	75,547,124 (GRCm39)	start gained	probably benign
R6579:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6580:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6583:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6640:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6642:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6643:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6679:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6680:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6687:Myo1c	UTSW	11	75,563,027 (GRCm39)	missense	probably benign
R6695:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6696:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6700:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6712:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6713:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R6715:Myo1c	UTSW	11	75,562,461 (GRCm39)	missense	probably benign	0.42
R7081:Myo1c	UTSW	11	75,551,789 (GRCm39)	missense	probably benign
R7265:Myo1c	UTSW	11	75,560,616 (GRCm39)	missense	possibly damaging	0.89
R7397:Myo1c	UTSW	11	75,562,068 (GRCm39)	missense	probably benign	0.17
R7586:Myo1c	UTSW	11	75,548,345 (GRCm39)	missense	possibly damaging	0.77
R7714:Myo1c	UTSW	11	75,549,519 (GRCm39)	missense	probably damaging	1.00
R8260:Myo1c	UTSW	11	75,546,942 (GRCm39)	unclassified	probably benign
R8341:Myo1c	UTSW	11	75,562,253 (GRCm39)	missense	probably benign	0.42
R8466:Myo1c	UTSW	11	75,549,213 (GRCm39)	missense	probably damaging	1.00
R8771:Myo1c	UTSW	11	75,556,709 (GRCm39)	missense	probably benign
R8829:Myo1c	UTSW	11	75,561,072 (GRCm39)	missense	probably benign	0.03
R8832:Myo1c	UTSW	11	75,561,072 (GRCm39)	missense	probably benign	0.03
R9243:Myo1c	UTSW	11	75,541,437 (GRCm39)	unclassified	probably benign
R9489:Myo1c	UTSW	11	75,559,899 (GRCm39)	missense	probably benign	0.00
R9605:Myo1c	UTSW	11	75,559,899 (GRCm39)	missense	probably benign	0.00
R9744:Myo1c	UTSW	11	75,562,797 (GRCm39)	missense	probably damaging	1.00
R9782:Myo1c	UTSW	11	75,549,273 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTGAACCCATCCAGGTAAG -3'
(R):5'- ACTGACAGAGATTCCTGAGAGG -3'

Sequencing Primer
(F):5'- GGTAAGAACCTGCTGTGACTCTC -3'
(R):5'- TTCCTGAGAGGGGAGAACAG -3'

Posted On

2018-06-22