Mutagenetix > Incidental Mutation

Incidental Mutation 'R4610:Myo1f'

344662

Institutional Source

Beutler Lab

Gene Symbol

Myo1f

Ensembl Gene

ENSMUSG00000024300

Gene Name

myosin IF

Synonyms

C330006B10Rik

MMRRC Submission

041821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R4610 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33555719-33607764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33582332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 333 (R333C)

Ref Sequence

ENSEMBL: ENSMUSP00000084887 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000087605
AA Change: R333C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084887
Gene: ENSMUSG00000024300
AA Change: R333C

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: R333C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134715
Gene: ENSMUSG00000024300
AA Change: R333C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174695

SMART Domains

Protein: ENSMUSP00000134600
Gene: ENSMUSG00000024300

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

Meta Mutation Damage Score

0.6418

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (121/124)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468	I69N	probably damaging	Het
Aars2	T	A	17: 45,516,921	D555E	probably damaging	Het
Adgre1	C	A	17: 57,450,073	Q777K	possibly damaging	Het
Agpat4	G	A	17: 12,210,377		probably null	Het
Ak7	G	A	12: 105,713,575	V123M	probably benign	Het
Ankle1	AT	A	8: 71,407,207		probably benign	Het
Ankrd44	T	G	1: 54,766,748		probably benign	Het
Aprt	A	T	8: 122,575,415		probably null	Het
Aptx	T	C	4: 40,702,766		probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AY358078	T	A	14: 51,826,075	C393S	possibly damaging	Het
Bbip1	T	C	19: 53,932,175	M1V	probably null	Het
Cacng7	T	A	7: 3,336,691	M36K	probably benign	Het
Camta1	A	G	4: 151,084,827	W156R	probably damaging	Het
Casd1	G	A	6: 4,631,165		probably null	Het
Casz1	T	A	4: 148,933,267	Y338N	probably damaging	Het
Ccdc66	T	C	14: 27,500,420	N122S	probably damaging	Het
Celf2	G	T	2: 6,586,020	N279K	possibly damaging	Het
Cit	A	G	5: 115,994,087	T1801A	probably benign	Het
Cnot2	A	G	10: 116,499,418	I275T	probably damaging	Het
Ddx4	T	C	13: 112,612,060	K435E	probably damaging	Het
Dnajc6	T	C	4: 101,611,264	F166L	probably damaging	Het
Dst	T	C	1: 34,169,856	L820P	probably damaging	Het
Dusp11	T	A	6: 85,950,055	N193Y	probably damaging	Het
Eif3m	A	T	2: 105,013,288	N116K	probably benign	Het
Epb41l1	A	T	2: 156,509,261	E418D	possibly damaging	Het
Esyt2	T	G	12: 116,318,890	N153K	probably damaging	Het
Exoc6b	T	G	6: 85,003,159		probably benign	Het
Ezr	C	T	17: 6,739,722	E502K	possibly damaging	Het
Fbxw11	T	A	11: 32,711,859	Y66N	possibly damaging	Het
Frem2	A	G	3: 53,547,807	L2116S	possibly damaging	Het
Fry	T	C	5: 150,386,104	L671P	probably damaging	Het
Galnt7	A	G	8: 57,545,769	I262T	probably damaging	Het
Glp1r	T	C	17: 30,931,247	F381S	probably benign	Het
Gm3867	T	C	9: 36,257,271		noncoding transcript	Het
Gm5662	T	C	12: 88,271,774	N72S	probably benign	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Golgb1	A	G	16: 36,918,625	D2442G	probably damaging	Het
Gp1bb	A	T	16: 18,621,143	L67Q	probably damaging	Het
Gstm7	G	A	3: 107,926,919	T206I	possibly damaging	Het
Hist1h2bf	A	T	13: 23,574,057	V45E	possibly damaging	Het
Hs3st5	A	T	10: 36,828,806	D35V	probably benign	Het
Hspa13	T	C	16: 75,761,302	H125R	probably benign	Het
Hspa1a	T	G	17: 34,971,180	H249P	probably damaging	Het
Igkv10-95	A	T	6: 68,680,578	Q6L	probably damaging	Het
Il1rap	T	A	16: 26,714,776	L474H	probably benign	Het
Ipo11	T	A	13: 106,879,737	Y489F	probably benign	Het
Itga5	A	G	15: 103,350,832	Y723H	probably damaging	Het
Itih2	T	C	2: 10,105,160	N594S	probably damaging	Het
Itk	T	A	11: 46,336,515	Q427L	probably benign	Het
Kif26b	A	G	1: 178,679,355	Y332C	probably damaging	Het
Kmt2c	G	A	5: 25,354,384	R1086W	probably damaging	Het
Ktn1	T	A	14: 47,726,179		probably benign	Het
Lars2	T	A	9: 123,418,693	I305N	probably damaging	Het
Lgmn	G	T	12: 102,400,124		probably benign	Het
Ltbp4	C	T	7: 27,306,700	E1453K	probably damaging	Het
Lypd8	G	A	11: 58,386,849	M152I	probably benign	Het
Man2a1	T	A	17: 64,712,459	S773T	probably benign	Het
Map2k6	T	G	11: 110,499,474	L278R	probably damaging	Het
Mbtps1	A	T	8: 119,535,347	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,028,592	V60M	probably damaging	Het
Mical3	C	A	6: 120,934,838	E1083*	probably null	Het
Mms19	A	G	19: 41,945,496	V811A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtcl1	T	A	17: 66,377,887	H520L	probably benign	Het
Mymk	A	T	2: 27,062,707	F130I	probably damaging	Het
Myo9a	T	A	9: 59,871,882	H1640Q	probably benign	Het
Nav1	A	G	1: 135,592,448		probably benign	Het
Ncbp3	G	T	11: 73,079,018	G564C	probably damaging	Het
Ncoa4	A	T	14: 32,176,725	I501L	probably benign	Het
Ngp	T	A	9: 110,420,815	N60K	possibly damaging	Het
Npc1l1	G	T	11: 6,228,215	D398E	probably damaging	Het
Nphs2	T	A	1: 156,326,131	M264K	probably damaging	Het
Olfr1193	G	A	2: 88,677,896	V14I	probably benign	Het
Olfr1193	T	G	2: 88,678,179	V101G	probably benign	Het
Olfr145	T	A	9: 37,898,326	S307R	probably benign	Het
Olfr58	T	A	9: 19,783,146	Y4*	probably null	Het
Patz1	A	G	11: 3,306,241	Y509C	probably damaging	Het
Pax8	G	A	2: 24,421,583	P447S	probably damaging	Het
Pde11a	A	G	2: 76,158,333	V488A	probably benign	Het
Pex11g	C	T	8: 3,465,899	V45M	probably benign	Het
Pik3ip1	T	A	11: 3,333,327	S142R	probably damaging	Het
Pitpnm2	C	G	5: 124,125,371	A819P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plin4	T	A	17: 56,105,418	M538L	probably benign	Het
Ppp3cb	T	C	14: 20,520,646	N339S	possibly damaging	Het
Rev1	T	C	1: 38,053,649	E1202G	probably damaging	Het
Rngtt	T	A	4: 33,339,133		probably benign	Het
Serpinb12	T	A	1: 106,949,153	D66E	probably benign	Het
Sgsm1	A	T	5: 113,255,307	F958Y	probably damaging	Het
Slc35e2	T	C	4: 155,617,649	F290S	probably benign	Het
Sorl1	C	T	9: 42,031,914	V889M	possibly damaging	Het
Sptlc3	G	A	2: 139,636,680	V520I	probably benign	Het
Stam	A	T	2: 14,115,858	H53L	probably damaging	Het
Stox2	A	G	8: 47,192,935	S497P	probably damaging	Het
Tarbp1	A	G	8: 126,474,330	Y246H	probably damaging	Het
Tbx15	A	G	3: 99,352,367	Y518C	probably damaging	Het
Tdrd5	T	A	1: 156,284,374	T479S	probably benign	Het
Tescl	T	C	7: 24,333,258	E214G	probably damaging	Het
Tex10	T	C	4: 48,452,946	D671G	probably benign	Het
Tmem132d	A	G	5: 127,984,296	V414A	probably benign	Het
Tmem41b	T	A	7: 109,974,734		probably benign	Het
Tnfrsf18	A	G	4: 156,021,880		probably benign	Het
Tulp4	T	A	17: 6,198,833	D42E	probably damaging	Het
Ubtd1	A	G	19: 42,033,664	N125S	probably damaging	Het
Ubxn4	T	A	1: 128,255,449	F68I	probably benign	Het
Urb1	A	G	16: 90,776,271	S958P	probably benign	Het
Vash2	T	C	1: 190,960,301	S226G	probably benign	Het
Vmn2r120	C	T	17: 57,509,120	G745E	probably damaging	Het
Vmn2r58	T	A	7: 41,837,693	I593F	probably benign	Het
Zfp398	T	C	6: 47,840,427	L67P	probably damaging	Het
Zfp607b	T	A	7: 27,703,695	H525Q	probably damaging	Het
Zfp629	T	C	7: 127,612,320	T106A	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	probably benign	Het
Zic5	T	A	14: 122,464,800	D173V	probably damaging	Het
Zranb2	G	A	3: 157,541,884		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
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
R8807:Myo1f	UTSW	17	33575905	missense	probably damaging	1.00
R9009:Myo1f	UTSW	17	33604688	missense	probably benign	0.12
R9083:Myo1f	UTSW	17	33594062	missense	probably damaging	0.99
R9227:Myo1f	UTSW	17	33576450	missense	probably damaging	1.00
R9230:Myo1f	UTSW	17	33576450	missense	probably damaging	1.00
R9528:Myo1f	UTSW	17	33578182	critical splice donor site	probably null
X0028:Myo1f	UTSW	17	33576438	missense	possibly damaging	0.67
X0065:Myo1f	UTSW	17	33601983	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCAAGAGAACCATGTTGG -3'
(R):5'- ATGTGAGTGTGTATCCTCAGGAAC -3'

Sequencing Primer
(F):5'- GTGTCACTGGGGAAGCTCCTATG -3'
(R):5'- AATAAAGCCTACCTTCCCATTTGTGG -3'

Posted On

2015-09-25