Mutagenetix > Incidental Mutations

Incidental Mutation 'R7853:Myo1f'

607104

Institutional Source

Beutler Lab

Gene Symbol

Myo1f

Ensembl Gene

ENSMUSG00000024300

Gene Name

myosin IF

Synonyms

C330006B10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R7853 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33555719-33607764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33576698 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 106 (V106D)

Ref Sequence

ENSEMBL: ENSMUSP00000084887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087605] [ENSMUST00000173372] [ENSMUST00000174695]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087605
AA Change: V106D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084887
Gene: ENSMUSG00000024300
AA Change: V106D

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 damaging
Transcript: ENSMUST00000173372
AA Change: V106D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134715
Gene: ENSMUSG00000024300
AA Change: V106D

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

probably damaging
Transcript: ENSMUST00000174695
AA Change: V76D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134600
Gene: ENSMUSG00000024300
AA Change: V76D

Domain	Start	End	E-Value	Type
Pfam:Myosin_head	47	98	1.3e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,680	I26T	probably damaging	Het
Aadacl4	G	T	4: 144,618,022	A123S	probably benign	Het
Adamts20	A	C	15: 94,345,990	C619G	probably damaging	Het
Ahcyl1	C	A	3: 107,668,288	V394L	probably benign	Het
Ankrd17	A	C	5: 90,238,966	L2378V	possibly damaging	Het
B3gnt3	T	C	8: 71,692,713	Y337C	probably damaging	Het
Bcl10	A	G	3: 145,924,511	K18R	possibly damaging	Het
Calcr	G	A	6: 3,707,499	A267V	probably benign	Het
Ces1d	C	T	8: 93,175,067	G425S	probably benign	Het
Col1a1	G	T	11: 94,947,679	R899L	unknown	Het
Commd1	C	T	11: 22,956,532	R168H	possibly damaging	Het
Cps1	T	C	1: 67,174,481	S791P	possibly damaging	Het
Ctsj	T	A	13: 61,004,070	I58F	probably damaging	Het
Cyp2j5	T	A	4: 96,641,419	K238N	probably benign	Het
Dlgap4	A	G	2: 156,705,882	D423G	probably benign	Het
Egln1	T	C	8: 124,948,517	N180D	probably benign	Het
Ehd1	T	C	19: 6,277,195	F74S	probably damaging	Het
Ext1	G	A	15: 53,107,485	A350V	probably damaging	Het
Fam186b	T	A	15: 99,280,747	I233F	probably damaging	Het
Fam193a	T	G	5: 34,440,129	N91K	probably benign	Het
Far1	T	A	7: 113,554,148	N329K	probably damaging	Het
Fhad1	A	G	4: 141,909,823	S1111P	probably damaging	Het
Fhl2	A	G	1: 43,141,824	S69P	probably damaging	Het
Flg2	C	A	3: 93,220,747	P2322Q	unknown	Het
Flvcr1	A	G	1: 191,025,646	Y108H	probably damaging	Het
Fos	T	A	12: 85,476,018	S235T	probably benign	Het
Foxf1	T	A	8: 121,084,699	S101T	probably damaging	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Ggps1	T	C	13: 14,054,449	I50V	probably benign	Het
Gkn2	A	G	6: 87,378,273	T155A	probably benign	Het
Gm49333	T	A	16: 20,644,260		probably null	Het
Gna12	C	T	5: 140,760,694	C332Y	probably damaging	Het
H2-Ke6	T	G	17: 34,027,437	D117A	probably benign	Het
Hc	T	A	2: 35,010,033	Y1096F	probably damaging	Het
Hoxa3	G	A	6: 52,170,287		probably benign	Het
Ifi206	A	T	1: 173,471,534	Y835*	probably null	Het
Ighv13-2	T	G	12: 114,357,924	E65A	probably damaging	Het
Kif5a	A	T	10: 127,235,668	Y770*	probably null	Het
Lfng	A	G	5: 140,607,629	S72G	probably benign	Het
Lipo2	C	T	19: 33,759,944		probably benign	Het
Lnpep	C	T	17: 17,562,847	S564N	probably benign	Het
Mfhas1	T	A	8: 35,589,871	L500*	probably null	Het
Mllt6	G	A	11: 97,670,316	V277I	probably benign	Het
Mroh5	C	T	15: 73,791,340	D192N	probably benign	Het
Mypn	T	A	10: 63,145,873	I643F	probably benign	Het
Nup188	A	G	2: 30,323,563	N669D	possibly damaging	Het
Olfr126	C	G	17: 37,850,823	T77R	probably damaging	Het
Olfr154	T	C	2: 85,664,345	T30A	probably benign	Het
Olfr281	T	C	15: 98,456,985	V225A	probably benign	Het
Olfr458	A	T	6: 42,460,639	C127S	probably damaging	Het
Osbpl10	A	G	9: 115,207,658	T241A	probably damaging	Het
Peg3	C	T	7: 6,708,840	E1128K	possibly damaging	Het
Plch1	C	A	3: 63,773,647	M186I	probably benign	Het
Pon3	A	C	6: 5,236,911	L152R	probably damaging	Het
Prr36	G	A	8: 4,213,905	P587L	unknown	Het
Psma2	T	A	13: 14,625,247	I192N	probably damaging	Het
Rbm11	T	C	16: 75,593,035	F30L	probably damaging	Het
Rpap3	G	A	15: 97,678,418	A622V	possibly damaging	Het
Scgb2b11	T	A	7: 32,209,382	N98Y	probably damaging	Het
Siglec1	A	G	2: 131,081,292	L511P	probably damaging	Het
Sirpb1c	C	T	3: 15,832,992	V228M	probably damaging	Het
Smpd4	T	A	16: 17,642,741	Y804N	probably damaging	Het
Sult6b2	T	C	6: 142,801,798	D75G	not run	Het
Sycp3	A	C	10: 88,466,506	K119N	probably damaging	Het
Syne2	T	C	12: 76,031,504	L4703P	probably damaging	Het
Tex12	C	G	9: 50,559,223	L20F	possibly damaging	Het
Them5	T	A	3: 94,343,296	Y55*	probably null	Het
Tmem43	A	T	6: 91,481,986	D213V	probably benign	Het
Tnfrsf10b	A	C	14: 69,767,790	Q44P	unknown	Het
Trbv2	A	T	6: 41,047,902	Q84L	probably benign	Het
Trim2	C	T	3: 84,305,230		probably benign	Het
Trim36	A	G	18: 46,172,491	V475A	probably benign	Het
Ttbk1	C	A	17: 46,447,343	E788D	probably benign	Het
Ttn	T	C	2: 76,713,282	D33120G	probably damaging	Het
Ttn	T	A	2: 76,745,912	N24879I	probably damaging	Het
Ube4a	T	A	9: 44,953,010	Q76L	probably benign	Het
Vmn2r27	T	A	6: 124,192,021	I717F	probably damaging	Het
Vmn2r45	T	C	7: 8,482,988	K434E	possibly damaging	Het
Vta1	T	C	10: 14,655,717	T305A	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	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
IGL02817:Myo1f	APN	17	33604558	missense	probably benign	0.06
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
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

Predicted Primers

PCR Primer
(F):5'- AATCTCTGTAAACCCCTTCAAGCAG -3'
(R):5'- GAACAAATATACTGATTCAGGAGCC -3'

Sequencing Primer
(F):5'- TGACCGAGAAATTGACCTCTATCAG -3'
(R):5'- TATACTGATTCAGGAGCCAAGAG -3'

Posted On

2019-12-20