Mutagenetix > Incidental Mutations

Incidental Mutation 'R6160:Myo1c'

489820

Institutional Source

Beutler Lab

Gene Symbol

Myo1c

Ensembl Gene

ENSMUSG00000017774

Gene Name

myosin IC

Synonyms

C80397, myosin-Ibeta, myr2, mm1beta

MMRRC Submission

044307-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.584) question?

Stock #

R6160 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

75650504-75673910 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75650742 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 18 (H18L)

Ref Sequence

ENSEMBL: ENSMUSP00000099563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006286] [ENSMUST00000069057] [ENSMUST00000102504] [ENSMUST00000102505] [ENSMUST00000139856] [ENSMUST00000150857]

Predicted Effect

probably benign
Transcript: ENSMUST00000006286

SMART Domains

Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127

Domain	Start	End	E-Value	Type
IPPc	30	345	1.03e-148	SMART

Predicted Effect

probably benign
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 benign
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 benign
Transcript: ENSMUST00000102505
AA Change: H18L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: H18L

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

noncoding transcript
Transcript: ENSMUST00000130318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136605

Predicted Effect

probably benign
Transcript: ENSMUST00000139856

SMART Domains

Protein: ENSMUSP00000121060
Gene: ENSMUSG00000006127

Domain	Start	End	E-Value	Type
Blast:IPPc	18	94	4e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149134

Predicted Effect

probably benign
Transcript: ENSMUST00000150857

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

94% (62/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	G	A	6: 149,331,507		probably null	Het
4930433I11Rik	T	A	7: 40,993,526	S297R	possibly damaging	Het
5530400C23Rik	A	G	6: 133,294,326	E111G	possibly damaging	Het
8030423J24Rik	T	A	13: 70,883,910	S34T	unknown	Het
Ace3	T	A	11: 105,994,732	W20R	possibly damaging	Het
Adgrf1	A	G	17: 43,310,687	E605G	probably damaging	Het
Arhgap44	G	A	11: 65,162,549		probably benign	Het
Atm	A	C	9: 53,490,959	H1404Q	probably benign	Het
AW209491	A	G	13: 14,636,721	E53G	probably damaging	Het
Cdt1	C	T	8: 122,571,368	T366I	probably benign	Het
Cerk	A	T	15: 86,142,773	C179S	probably benign	Het
Cldn10	T	C	14: 118,861,843	V123A	possibly damaging	Het
Clip1	T	C	5: 123,613,541	K726E	possibly damaging	Het
Dcaf12	A	T	4: 41,294,043	Y365N	probably damaging	Het
Dennd6b	A	G	15: 89,188,821	L171P	probably damaging	Het
Dip2c	G	A	13: 9,533,254	V91I	probably benign	Het
Dlec1	A	G	9: 119,143,319	I1431V	probably benign	Het
Egln1	T	C	8: 124,948,492	D188G	probably damaging	Het
Enpp5	T	A	17: 44,081,368	N229K	possibly damaging	Het
Fmo1	T	G	1: 162,836,298	I221L	probably benign	Het
Fsip2	G	A	2: 82,987,945	W4674*	probably null	Het
Gm12185	G	A	11: 48,908,428	Q413*	probably null	Het
Gm5096	G	A	18: 87,757,121	C256Y	probably damaging	Het
Gm7298	A	T	6: 121,764,927	H436L	probably benign	Het
Gucy2c	G	A	6: 136,740,686	Q430*	probably null	Het
Hgd	A	G	16: 37,613,298	H134R	probably damaging	Het
Hoxd8	A	G	2: 74,705,999	E151G	probably damaging	Het
Il15ra	A	G	2: 11,720,016	D99G	probably damaging	Het
Ints4	T	A	7: 97,509,583		probably null	Het
Itgb1	T	A	8: 128,720,283	F426L	possibly damaging	Het
Itpr1	A	C	6: 108,518,755	I2534L	probably benign	Het
Kcnq4	T	A	4: 120,716,559	H235L	probably damaging	Het
Kcnt1	T	A	2: 25,892,383	I178N	probably damaging	Het
Kidins220	A	G	12: 24,997,311	D252G	probably damaging	Het
Krt23	A	G	11: 99,485,718	I204T	probably damaging	Het
Lipo4	A	G	19: 33,503,293	L225P	probably damaging	Het
Lrp3	T	C	7: 35,204,123	D245G	possibly damaging	Het
Mmp16	A	G	4: 18,051,857	D282G	probably damaging	Het
Myo1f	C	A	17: 33,604,344	P981Q	probably benign	Het
Nle1	A	T	11: 82,908,157	F33I	probably benign	Het
Nlrp4e	T	G	7: 23,321,306	M406R	probably damaging	Het
Obscn	A	T	11: 59,051,785	V4857E	probably damaging	Het
Palb2	A	T	7: 122,128,420		probably null	Het
Phospho1	A	T	11: 95,830,624	E22V	probably damaging	Het
Pom121l2	C	T	13: 21,983,668	S703L	possibly damaging	Het
Prex2	T	C	1: 10,993,851	L20P	probably damaging	Het
Psmb7	T	C	2: 38,643,381	T45A	probably damaging	Het
R3hdm2	T	C	10: 127,484,507	I532T	probably damaging	Het
Rcn1	T	C	2: 105,392,017	D208G	probably damaging	Het
Recql5	A	G	11: 115,932,787		probably null	Het
Rfc4	A	T	16: 23,114,683	I242N	probably damaging	Het
Rims1	T	C	1: 22,432,984	Y650C	probably damaging	Het
Shc2	C	T	10: 79,627,019		probably null	Het
Slc14a2	A	T	18: 78,158,975		probably null	Het
Slc6a6	A	T	6: 91,740,014		probably null	Het
Synj2	C	A	17: 6,008,061	H275N	possibly damaging	Het
T	A	T	17: 8,441,786	T410S	probably benign	Het
Tarsl2	A	G	7: 65,682,779	I543V	probably benign	Het
Tbc1d8	T	A	1: 39,372,403	K1117N	probably damaging	Het
Tm7sf3	A	T	6: 146,606,289	L425*	probably null	Het
Trav14-3	A	G	14: 53,763,521	Y63C	probably damaging	Het
Tyro3	A	C	2: 119,803,270	D133A	probably damaging	Het
Vmn1r119	T	G	7: 21,011,815	H214P	possibly damaging	Het
Vmn2r120	G	A	17: 57,509,418	P646S	probably benign	Het
Zbtb7c	A	T	18: 76,145,833	Y454F	probably benign	Het
Zmym2	T	C	14: 56,950,309	L1144P	probably damaging	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
R0257:Myo1c	UTSW	11	75665516	critical splice acceptor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AACAGGCATTTCCTCCATCC -3'
(R):5'- TAATGGTTTCTGTCCCCAGC -3'

Sequencing Primer
(F):5'- TCCAGCTGTGTCCTGAGAAG -3'
(R):5'- GTTTCTGTCCCCAGCAAAGATCAG -3'

Posted On

2017-10-10