Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Myo1c'

345457

Institutional Source

Beutler Lab

Gene Symbol

Myo1c

Ensembl Gene

ENSMUSG00000017774

Gene Name

myosin IC

Synonyms

C80397, myosin-Ibeta, myr2, mm1beta

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.595) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75650504-75673910 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75668193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 604 (F604L)

Ref Sequence

ENSEMBL: ENSMUSP00000099563 (fasta)

Gene Model

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

AlphaFold

Q9WTI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000069057
AA Change: F569L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: F569L

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 damaging
Transcript: ENSMUST00000102504
AA Change: F569L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: F569L

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 damaging
Transcript: ENSMUST00000102505
AA Change: F604L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: F604L

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 damaging
Transcript: ENSMUST00000108431
AA Change: F585L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: F585L

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: ENSMUST00000148659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155027

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Lin7a	T	C	10: 107,412,166	S111P	unknown	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151		probably null	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	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
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
R6160:Myo1c	UTSW	11	75650742	missense	probably benign	0.00
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
R8466:Myo1c	UTSW	11	75658387	missense	probably damaging	1.00
R8771:Myo1c	UTSW	11	75665883	missense	probably benign
R8829:Myo1c	UTSW	11	75670246	missense	probably benign	0.03
R8832:Myo1c	UTSW	11	75670246	missense	probably benign	0.03
R9243:Myo1c	UTSW	11	75650611	unclassified	probably benign
R9489:Myo1c	UTSW	11	75669073	missense	probably benign	0.00
R9605:Myo1c	UTSW	11	75669073	missense	probably benign	0.00
R9744:Myo1c	UTSW	11	75671971	missense	probably damaging	1.00
R9782:Myo1c	UTSW	11	75658447	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCTGAGGTCTCTAACGGG -3'
(R):5'- CTCATCAAAGCGACCTGAGAG -3'

Sequencing Primer
(F):5'- CTGAGGTCTCTAACGGGCTGAAAG -3'
(R):5'- CCGGAGAGTAACAAAGGTGGTCC -3'

Posted On

2015-09-25