Mutagenetix > Incidental Mutation

Incidental Mutation 'R6583:Myo1c'

524245

Institutional Source

Beutler Lab

Gene Symbol

Myo1c

Ensembl Gene

ENSMUSG00000017774

Gene Name

myosin IC

Synonyms

myr2, mm1beta, C80397, myosin-Ibeta

MMRRC Submission

044707-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.684) question?

Stock #

R6583 (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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	A	C	3: 126,810,613 (GRCm39)	I491S	probably damaging	Het
Armc12	A	T	17: 28,757,588 (GRCm39)	Q240L	probably null	Het
Cntnap5c	C	T	17: 58,637,272 (GRCm39)	P1050S	probably damaging	Het
Col4a3	C	A	1: 82,619,197 (GRCm39)	A42E	unknown	Het
D630003M21Rik	A	G	2: 158,062,436 (GRCm39)	V28A	probably damaging	Het
Dbf4	A	G	5: 8,448,143 (GRCm39)	S355P	probably damaging	Het
Dnah6	A	G	6: 73,150,516 (GRCm39)	V749A	probably benign	Het
Exoc4	T	C	6: 33,792,688 (GRCm39)	L606P	probably damaging	Het
Fggy	T	C	4: 95,489,210 (GRCm39)	S109P	probably benign	Het
Gdf7	T	A	12: 8,351,758 (GRCm39)	Q59L	unknown	Het
M6pr	T	C	6: 122,290,349 (GRCm39)	V104A	probably damaging	Het
Macf1	A	T	4: 123,364,739 (GRCm39)		probably null	Het
Micu2	T	C	14: 58,181,127 (GRCm39)	K169R	probably damaging	Het
Mthfd1l	A	G	10: 3,997,937 (GRCm39)	D636G	probably damaging	Het
Nfib	T	G	4: 82,416,708 (GRCm39)	D125A	probably damaging	Het
Nuf2	T	C	1: 169,332,117 (GRCm39)	T393A	probably benign	Het
Or8b49	G	A	9: 38,506,260 (GRCm39)	V248I	possibly damaging	Het
Paox	T	A	7: 139,706,291 (GRCm39)	N70K	probably damaging	Het
Pnma8b	A	G	7: 16,679,844 (GRCm39)	N276S	probably damaging	Het
Ralgds	G	A	2: 28,423,656 (GRCm39)	A32T	probably damaging	Het
Samd11	T	A	4: 156,332,591 (GRCm39)	N446I	possibly damaging	Het
Soat1	T	C	1: 156,294,062 (GRCm39)		probably null	Het
Tmem87a	A	T	2: 120,205,958 (GRCm39)	V339E	possibly damaging	Het
Tmprss13	G	T	9: 45,256,603 (GRCm39)	C516F	probably damaging	Het
Vmn2r69	T	C	7: 85,059,017 (GRCm39)	T515A	probably benign	Het
Xrcc5	T	C	1: 72,351,752 (GRCm39)		probably null	Het
Ywhaz	T	C	15: 36,791,166 (GRCm39)	Y19C	probably damaging	Het
Zfp964	G	T	8: 70,115,633 (GRCm39)	D78Y	probably damaging	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
R6568: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
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'- AGAACCTGCTGTGACTCTCG -3'
(R):5'- ACAAATAGGCTATCACTCAGGC -3'

Sequencing Primer
(F):5'- TGTGACTCTCGCTGGCAC -3'
(R):5'- ATAGGCTATCACTCAGGCTACTG -3'

Posted On

2018-06-22