Mutagenetix > Incidental Mutation

Incidental Mutation 'R6687:Myo1c'

527835

Institutional Source

Beutler Lab

Gene Symbol

Myo1c

Ensembl Gene

ENSMUSG00000017774

Gene Name

myosin IC

Synonyms

myr2, mm1beta, C80397, myosin-Ibeta

MMRRC Submission

044805-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

R6687 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75541330-75564736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75563027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1020 (S1020P)

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: S1004P

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

SMART Domains

Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: S1004P

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: S1004P

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

SMART Domains

Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: S1004P

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: S1039P

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

SMART Domains

Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: S1039P

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: S1020P

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

SMART Domains

Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: S1020P

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (33/33)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,248,392 (GRCm39)	V688A	probably benign	Het
AI661453	A	G	17: 47,777,927 (GRCm39)		probably benign	Het
Atp6ap1l	A	G	13: 91,034,842 (GRCm39)	F180S	probably benign	Het
Cfd	G	A	10: 79,727,553 (GRCm39)	V77M	probably damaging	Het
Col5a2	A	T	1: 45,422,764 (GRCm39)	L1151H	probably damaging	Het
Dennd3	G	A	15: 73,428,215 (GRCm39)	V854M	possibly damaging	Het
Dlg5	C	T	14: 24,240,441 (GRCm39)	R247Q	probably damaging	Het
Fam3c	G	C	6: 22,328,669 (GRCm39)	P53A	probably benign	Het
Gpbp1	T	C	13: 111,574,619 (GRCm39)	N302D	possibly damaging	Het
Hmcn1	A	G	1: 150,620,784 (GRCm39)	V1142A	probably benign	Het
Ighv9-3	G	A	12: 114,104,544 (GRCm39)	S40F	probably damaging	Het
Insr	C	T	8: 3,248,111 (GRCm39)	R478H	probably benign	Het
Kcna2	C	A	3: 107,012,343 (GRCm39)	S308Y	probably damaging	Het
Larp1	A	G	11: 57,948,156 (GRCm39)	D985G	probably damaging	Het
Loxl3	A	T	6: 83,027,645 (GRCm39)	H729L	probably damaging	Het
Lrrc14b	T	C	13: 74,508,881 (GRCm39)	M509V	probably benign	Het
Lrrc8e	A	G	8: 4,284,798 (GRCm39)	Y341C	probably damaging	Het
Mettl18	A	G	1: 163,824,369 (GRCm39)	D230G	possibly damaging	Het
Mup12	T	C	4: 60,697,308 (GRCm39)		probably benign	Het
Or3a4	C	A	11: 73,945,210 (GRCm39)	R125L	probably damaging	Het
Phkb	T	C	8: 86,756,175 (GRCm39)	I823T	probably damaging	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Rpap2	T	C	5: 107,751,496 (GRCm39)		probably null	Het
Rpl38	T	C	11: 114,559,594 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,872,508 (GRCm39)	F516L	probably benign	Het
Slc51a	A	T	16: 32,298,543 (GRCm39)	D71E	probably damaging	Het
Slco1a6	T	C	6: 142,045,076 (GRCm39)	E470G	possibly damaging	Het
Spag17	C	A	3: 100,000,266 (GRCm39)	H1811N	probably benign	Het
Sycp2	C	T	2: 177,996,753 (GRCm39)	C1150Y	probably damaging	Het
Ttc12	A	G	9: 49,349,718 (GRCm39)	V693A	probably benign	Het
Wdr83	C	T	8: 85,806,778 (GRCm39)	V101I	probably benign	Het
Wnt3	G	T	11: 103,703,411 (GRCm39)	R298L	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
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
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'- TGTGATCGAGACACTAACCAAG -3'
(R):5'- CATAGGGGTCCAAGCAACTC -3'

Sequencing Primer
(F):5'- GTGCTGACCGCGTGAACAATATC -3'
(R):5'- AAGCAACTCCCCTTTCTGAC -3'

Posted On

2018-07-23