Mutagenetix > Incidental Mutation

Incidental Mutation 'R6715:Myo1c'

529299

Institutional Source

Beutler Lab

Gene Symbol

Myo1c

Ensembl Gene

ENSMUSG00000017774

Gene Name

myosin IC

Synonyms

myr2, mm1beta, C80397, myosin-Ibeta

MMRRC Submission

044833-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.684) question?

Stock #

R6715 (G1)

Quality Score

225.009

Status

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: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

100% (35/35)

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
Adck1	G	A	12: 88,425,850 (GRCm39)	R426H	probably damaging	Het
Arl2	G	A	19: 6,187,555 (GRCm39)	R98C	probably damaging	Het
Atm	A	G	9: 53,442,948 (GRCm39)	I105T	probably damaging	Het
Cnnm2	G	A	19: 46,842,412 (GRCm39)	G565E	probably damaging	Het
Ddx60	G	A	8: 62,436,924 (GRCm39)	G958D	probably benign	Het
Fbxo2	T	A	4: 148,250,226 (GRCm39)	M252K	probably benign	Het
Filip1	C	A	9: 79,726,040 (GRCm39)	A860S	probably benign	Het
Gm11992	C	A	11: 9,011,214 (GRCm39)	S218R	probably damaging	Het
Gnb3	A	G	6: 124,814,691 (GRCm39)	L69P	possibly damaging	Het
Gpr18	T	G	14: 122,149,389 (GRCm39)	H212P	possibly damaging	Het
Iqcb1	T	C	16: 36,655,991 (GRCm39)	F126S	probably damaging	Het
Katnip	C	T	7: 125,361,001 (GRCm39)	Q104*	probably null	Het
Kcnh1	A	G	1: 192,019,949 (GRCm39)	D425G	probably benign	Het
Kdm5b	T	A	1: 134,536,799 (GRCm39)		probably null	Het
Mcm3ap	C	T	10: 76,325,366 (GRCm39)	T989M	possibly damaging	Het
Mtor	T	C	4: 148,623,004 (GRCm39)	C1999R	probably benign	Het
Myof	A	T	19: 37,956,794 (GRCm39)	D508E	probably benign	Het
Or52b2	A	T	7: 104,986,539 (GRCm39)	I128N	probably damaging	Het
Or56b2j	G	A	7: 104,353,163 (GRCm39)	V130M	possibly damaging	Het
Or5l13	T	A	2: 87,780,335 (GRCm39)	M81L	probably benign	Het
Osbpl7	A	G	11: 96,945,425 (GRCm39)	H266R	probably damaging	Het
Pear1	T	C	3: 87,666,424 (GRCm39)	Y93C	probably damaging	Het
Pgr	A	G	9: 8,965,000 (GRCm39)	H881R	possibly damaging	Het
Rfx1	A	G	8: 84,822,444 (GRCm39)	E914G	possibly damaging	Het
Samm50	T	C	15: 84,095,259 (GRCm39)	I415T	probably benign	Het
Snx7	T	C	3: 117,575,985 (GRCm39)	D434G	possibly damaging	Het
Susd4	G	A	1: 182,719,602 (GRCm39)	V406M	probably benign	Het
Syt15	G	T	14: 33,944,819 (GRCm39)	G122V	probably damaging	Het
Tlr5	A	G	1: 182,800,224 (GRCm39)		probably benign	Het
Ttc6	T	C	12: 57,721,556 (GRCm39)		probably null	Het
Vmn1r211	C	A	13: 23,035,949 (GRCm39)	M239I	probably benign	Het
Vps37a	G	T	8: 40,993,902 (GRCm39)		probably null	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
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
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'- AAGAACCTGCTGTGACTCTCG -3'
(R):5'- ATAGGCTATCACTCAGGCTACTG -3'

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

Posted On

2018-07-24