Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02817:Myo1f'

360834

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo1f

Ensembl Gene

ENSMUSG00000024300

Gene Name

myosin IF

Synonyms

C330006B10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

IGL02817

Quality Score

Status

Chromosome

Chromosomal Location

33555719-33607764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33604558 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 1020 (R1020K)

Ref Sequence

ENSEMBL: ENSMUSP00000084887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087605] [ENSMUST00000173372]

Predicted Effect

probably benign
Transcript: ENSMUST00000087605
AA Change: R1020K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000084887
Gene: ENSMUSG00000024300
AA Change: R1020K

Domain	Start	End	E-Value	Type
MYSc	11	691	N/A	SMART
IQ	692	714	7.57e0	SMART
Pfam:Myosin_TH1	717	909	1.7e-51	PFAM
low complexity region	939	952	N/A	INTRINSIC
low complexity region	973	987	N/A	INTRINSIC
low complexity region	991	1001	N/A	INTRINSIC
SH3	1044	1098	2.09e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173372

SMART Domains

Protein: ENSMUSP00000134715
Gene: ENSMUSG00000024300

Domain	Start	End	E-Value	Type
MYSc	11	691	N/A	SMART
IQ	692	714	7.57e0	SMART
Pfam:Myosin_TH1	716	780	6e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173426

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosins are molecular motors that use the energy from ATP hydrolysis to generate force on actin filaments. The protein encoded by this gene is an unconventional myosin that may be involved in the intracellular movement of membrane-enclosed compartments. There is evidence to suggest that mutations in this gene can result in hearing loss. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired neutrophil migration and adhesion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	A	G	2: 35,100,649	V12A	probably damaging	Het
Ash1l	C	A	3: 88,984,801	P1329H	probably damaging	Het
Bpifb3	T	C	2: 153,919,646	V5A	unknown	Het
Cep350	A	G	1: 155,928,842	S832P	probably damaging	Het
Chd1	A	T	17: 15,749,500	H947L	possibly damaging	Het
Clec4b1	A	T	6: 123,068,485	H88L	possibly damaging	Het
Col4a1	A	G	8: 11,220,259	L859P	probably damaging	Het
Cyp2f2	T	A	7: 27,129,315	N203K	probably damaging	Het
Dgka	G	A	10: 128,730,228	T351I	probably benign	Het
Dmc1	G	A	15: 79,588,763	T161I	probably damaging	Het
Dnah8	A	G	17: 30,668,295	N688D	probably benign	Het
Dpy19l3	A	G	7: 35,692,808	L653P	probably damaging	Het
Drc3	A	G	11: 60,384,236	E341G	probably benign	Het
Fam155a	A	T	8: 9,207,994	C385S	probably damaging	Het
Fcrl5	T	G	3: 87,435,913	V10G	probably benign	Het
Fgfr4	T	C	13: 55,156,668		probably null	Het
Gli2	T	C	1: 118,836,371	H1350R	possibly damaging	Het
Gm3248	A	G	14: 5,945,825	S30P	probably benign	Het
Grik4	T	C	9: 42,622,939	N349S	probably benign	Het
Ifnar2	G	T	16: 91,387,992	K90N	probably benign	Het
Kcp	A	T	6: 29,496,969	I547N	probably damaging	Het
L3mbtl4	A	T	17: 68,630,254	E423D	probably benign	Het
Mapkap1	T	C	2: 34,563,118	L341P	probably damaging	Het
Mdm1	A	G	10: 118,164,346	Q618R	possibly damaging	Het
Medag	A	T	5: 149,427,038	R51*	probably null	Het
Myrf	T	C	19: 10,225,452	N153D	probably benign	Het
Naf1	T	C	8: 66,883,525	I368T	probably damaging	Het
Ncapd2	A	G	6: 125,170,914		probably null	Het
Nsfl1c	T	A	2: 151,500,731	S74T	probably damaging	Het
Olfr1097	T	C	2: 86,890,593	N194S	probably benign	Het
Olfr435	A	T	6: 43,202,059	R138S	probably benign	Het
Olfr780	A	G	10: 129,321,895	T91A	probably benign	Het
Ptgfrn	T	A	3: 101,060,752	E508D	probably benign	Het
Ryr3	C	A	2: 112,844,623		probably null	Het
Snx27	A	G	3: 94,503,463	L460P	probably damaging	Het
Sp4	G	T	12: 118,299,552	T253K	probably damaging	Het
Trio	T	C	15: 27,902,881	I165V	probably benign	Het
Txnl4b	A	G	8: 109,572,846	Y146C	probably damaging	Het
Vmn1r42	A	G	6: 89,845,536	M17T	probably damaging	Het
Zer1	T	C	2: 30,103,394	I567V	probably damaging	Het

Other mutations in Myo1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00851:Myo1f	APN	17	33581964	missense	probably benign	0.01
IGL01019:Myo1f	APN	17	33593003	missense	possibly damaging	0.93
IGL01524:Myo1f	APN	17	33579883	missense	probably damaging	1.00
IGL01744:Myo1f	APN	17	33583680	splice site	probably benign
IGL01951:Myo1f	APN	17	33598017	missense	possibly damaging	0.64
IGL02132:Myo1f	APN	17	33579971	missense	probably benign	0.10
IGL02170:Myo1f	APN	17	33578272	missense	probably benign	0.14
IGL02173:Myo1f	APN	17	33607344	missense	probably damaging	1.00
IGL02277:Myo1f	APN	17	33579861	splice site	probably null
IGL02550:Myo1f	APN	17	33588142	missense	probably damaging	1.00
IGL02550:Myo1f	APN	17	33580150	unclassified	probably benign
IGL02615:Myo1f	APN	17	33604656	missense	probably benign
IGL02801:Myo1f	APN	17	33578137	missense	probably damaging	1.00
IGL02904:Myo1f	APN	17	33585658	nonsense	probably null
IGL03056:Myo1f	APN	17	33585600	missense	probably damaging	1.00
IGL03334:Myo1f	APN	17	33598194	missense	probably damaging	1.00
R0066:Myo1f	UTSW	17	33601703	missense	probably damaging	0.98
R0066:Myo1f	UTSW	17	33601703	missense	probably damaging	0.98
R0321:Myo1f	UTSW	17	33593012	missense	probably benign	0.31
R0375:Myo1f	UTSW	17	33601956	missense	probably benign	0.27
R0487:Myo1f	UTSW	17	33578284	missense	probably damaging	1.00
R0925:Myo1f	UTSW	17	33578133	missense	probably damaging	0.96
R1394:Myo1f	UTSW	17	33583740	missense	probably damaging	0.96
R1395:Myo1f	UTSW	17	33583740	missense	probably damaging	0.96
R1474:Myo1f	UTSW	17	33594027	missense	possibly damaging	0.77
R1760:Myo1f	UTSW	17	33586198	missense	probably benign	0.03
R1965:Myo1f	UTSW	17	33598172	nonsense	probably null
R2409:Myo1f	UTSW	17	33576667	missense	probably damaging	1.00
R2432:Myo1f	UTSW	17	33575849	missense	probably damaging	1.00
R4610:Myo1f	UTSW	17	33582332	missense	probably damaging	1.00
R4785:Myo1f	UTSW	17	33598191	missense	possibly damaging	0.95
R5239:Myo1f	UTSW	17	33601735	missense	probably benign	0.00
R5881:Myo1f	UTSW	17	33576653	missense	probably damaging	1.00
R5881:Myo1f	UTSW	17	33580285	missense	possibly damaging	0.46
R6160:Myo1f	UTSW	17	33604344	missense	probably benign
R6210:Myo1f	UTSW	17	33601070	missense	probably damaging	1.00
R6365:Myo1f	UTSW	17	33586116	missense	probably benign
R6464:Myo1f	UTSW	17	33576647	missense	probably damaging	1.00
R6532:Myo1f	UTSW	17	33575846	missense	probably damaging	1.00
R6678:Myo1f	UTSW	17	33575845	missense	probably damaging	1.00
R7241:Myo1f	UTSW	17	33579928	missense	probably damaging	0.99
R7266:Myo1f	UTSW	17	33601694	missense	probably benign
R7513:Myo1f	UTSW	17	33575814	missense	probably damaging	1.00
R7606:Myo1f	UTSW	17	33576450	missense	probably damaging	1.00
R7779:Myo1f	UTSW	17	33578273	missense	probably benign	0.27
R7853:Myo1f	UTSW	17	33576698	missense	probably damaging	1.00
R7884:Myo1f	UTSW	17	33598296	missense	probably damaging	1.00
R8507:Myo1f	UTSW	17	33598018	missense	probably benign	0.09
X0028:Myo1f	UTSW	17	33576438	missense	possibly damaging	0.67
X0065:Myo1f	UTSW	17	33601983	missense	probably benign

Posted On

2015-12-18