Mutagenetix > Incidental Mutation

Incidental Mutation 'R7241:Myo1f'

563246

Institutional Source

Beutler Lab

Gene Symbol

Myo1f

Ensembl Gene

ENSMUSG00000024300

Gene Name

myosin IF

Synonyms

C330006B10Rik

MMRRC Submission

045348-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R7241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33774681-33826738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33798902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 189 (N189S)

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: N189S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084887
Gene: ENSMUSG00000024300
AA Change: N189S

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: N189S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134715
Gene: ENSMUSG00000024300
AA Change: N189S

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 benign
Transcript: ENSMUST00000174695

SMART Domains

Protein: ENSMUSP00000134600
Gene: ENSMUSG00000024300

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,184 (GRCm39)	T612A	probably damaging	Het
Acacb	G	A	5: 114,383,161 (GRCm39)	A2115T	possibly damaging	Het
Adam32	T	C	8: 25,388,510 (GRCm39)	K398R	probably benign	Het
Adam9	T	A	8: 25,441,002 (GRCm39)	I824F	possibly damaging	Het
Ahnak	A	G	19: 8,986,395 (GRCm39)	I2560V	possibly damaging	Het
Ank3	G	A	10: 69,542,644 (GRCm39)	M1I	probably null	Het
Anks1b	T	G	10: 90,348,699 (GRCm39)	I789S	probably damaging	Het
Ap2b1	T	A	11: 83,241,931 (GRCm39)	N641K	probably benign	Het
Arhgap33	A	G	7: 30,228,146 (GRCm39)	L412P	probably damaging	Het
Atp13a3	T	A	16: 30,171,095 (GRCm39)	M317L	possibly damaging	Het
B4galt5	A	G	2: 167,148,617 (GRCm39)	L167P	probably damaging	Het
Bace2	T	C	16: 97,237,998 (GRCm39)	I483T	possibly damaging	Het
C2cd3	A	C	7: 100,056,257 (GRCm39)	K177T		Het
Ccr4	T	C	9: 114,322,024 (GRCm39)	T14A	probably benign	Het
Cep250	A	T	2: 155,833,472 (GRCm39)	H1799L	probably benign	Het
Cgnl1	T	C	9: 71,632,052 (GRCm39)	Q433R	probably benign	Het
Copb1	C	T	7: 113,836,591 (GRCm39)	V384M	probably damaging	Het
Cyp2c50	T	A	19: 40,079,012 (GRCm39)	N118K	probably benign	Het
Cyp4a32	A	G	4: 115,459,499 (GRCm39)	I78V	probably benign	Het
Cyth4	A	G	15: 78,491,245 (GRCm39)	K108R	probably benign	Het
Dnah1	T	C	14: 30,986,896 (GRCm39)	H3632R	probably benign	Het
Dnah3	T	C	7: 119,542,856 (GRCm39)	I540V	probably benign	Het
Dock4	A	G	12: 40,844,859 (GRCm39)	Y1174C	probably damaging	Het
Drd5	A	G	5: 38,477,879 (GRCm39)	T291A	probably damaging	Het
Eeig1	A	G	2: 32,448,076 (GRCm39)	R62G	probably benign	Het
Fbn1	T	C	2: 125,148,415 (GRCm39)	N2611S	possibly damaging	Het
Fcsk	A	G	8: 111,622,529 (GRCm39)	I133T	probably benign	Het
Fhod3	A	G	18: 25,193,409 (GRCm39)	E640G	probably damaging	Het
Flvcr2	T	A	12: 85,852,013 (GRCm39)	D522E	probably benign	Het
Ganc	T	A	2: 120,272,010 (GRCm39)	I556K	probably damaging	Het
Gjc2	T	A	11: 59,067,960 (GRCm39)	E174V	unknown	Het
Gzmd	G	A	14: 56,368,799 (GRCm39)	R32C	probably damaging	Het
Hltf	T	A	3: 20,119,556 (GRCm39)	H200Q	probably benign	Het
Ift88	A	G	14: 57,717,454 (GRCm39)	I559M	probably damaging	Het
Ighv1-62-1	C	A	12: 115,350,322 (GRCm39)	C115F	probably damaging	Het
Impdh2	A	G	9: 108,440,636 (GRCm39)	N279S	possibly damaging	Het
Itpr1	T	C	6: 108,494,581 (GRCm39)		probably null	Het
Kansl1l	T	C	1: 66,840,787 (GRCm39)	N171S	possibly damaging	Het
Kif14	T	A	1: 136,396,491 (GRCm39)	C266S	probably benign	Het
Kif19b	A	G	5: 140,447,943 (GRCm39)	T137A	probably damaging	Het
Lrriq1	A	C	10: 103,051,834 (GRCm39)	V306G	probably damaging	Het
Mast4	G	A	13: 103,470,508 (GRCm39)	R65W	possibly damaging	Het
Mex3d	T	C	10: 80,223,091 (GRCm39)	D55G		Het
Mrps27	A	T	13: 99,547,788 (GRCm39)	K233*	probably null	Het
Nbn	A	T	4: 15,991,190 (GRCm39)	K729N	probably benign	Het
Or1e35	T	C	11: 73,798,058 (GRCm39)	S87G	probably benign	Het
Or8k35	C	A	2: 86,424,498 (GRCm39)	V225F	possibly damaging	Het
Pgghg	T	C	7: 140,525,633 (GRCm39)	S479P		Het
Plaat5	A	G	19: 7,591,946 (GRCm39)	T121A	probably benign	Het
Polr1e	A	C	4: 45,029,340 (GRCm39)	H315P	probably damaging	Het
Pou6f2	A	G	13: 18,299,874 (GRCm39)	V595A		Het
Prdm15	T	C	16: 97,596,941 (GRCm39)	D960G	possibly damaging	Het
Prkcz	A	T	4: 155,353,516 (GRCm39)	M460K	probably benign	Het
Prkd2	G	T	7: 16,591,730 (GRCm39)	R587L	probably benign	Het
Prkn	C	A	17: 12,073,748 (GRCm39)	N355K	possibly damaging	Het
Rabep1	C	A	11: 70,830,815 (GRCm39)	T829N	probably damaging	Het
Rptn	A	G	3: 93,303,261 (GRCm39)	E198G	probably benign	Het
Ryr2	A	T	13: 11,680,799 (GRCm39)	I3182N	possibly damaging	Het
Sectm1a	T	A	11: 120,960,708 (GRCm39)	I36F	possibly damaging	Het
Sez6l	T	C	5: 112,621,346 (GRCm39)	S243G	probably benign	Het
Spata31h1	T	C	10: 82,122,876 (GRCm39)	E3378G	probably benign	Het
Taf2	T	A	15: 54,925,537 (GRCm39)	H235L	probably benign	Het
Tbc1d7	T	C	13: 43,306,493 (GRCm39)	Q161R	probably benign	Het
Tfcp2	T	C	15: 100,416,468 (GRCm39)	T271A	possibly damaging	Het
Thrsp	G	T	7: 97,066,295 (GRCm39)	T139K	probably damaging	Het
Timm10	T	A	2: 84,660,333 (GRCm39)	*91R	probably null	Het
Tlr11	T	A	14: 50,599,598 (GRCm39)	I528N	possibly damaging	Het
Tnnt2	T	A	1: 135,779,444 (GRCm39)	L278Q	probably damaging	Het
Toe1	A	T	4: 116,664,715 (GRCm39)	M1K	probably null	Het
Trpv5	G	A	6: 41,652,242 (GRCm39)	R148*	probably null	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Ttn	A	G	2: 76,783,550 (GRCm39)	V860A	unknown	Het
Txnip	T	C	3: 96,466,991 (GRCm39)	Y222H	probably damaging	Het
Ubr4	G	A	4: 139,170,725 (GRCm39)	S1600N	probably damaging	Het
Uhrf1	T	C	17: 56,622,193 (GRCm39)	Y364H	probably damaging	Het
Unc5a	A	T	13: 55,138,833 (GRCm39)	T71S	probably damaging	Het
Vmn1r123	A	T	7: 20,896,537 (GRCm39)	Y143F	possibly damaging	Het
Vmn1r180	T	A	7: 23,651,891 (GRCm39)	I18N	probably damaging	Het
Washc2	A	G	6: 116,185,168 (GRCm39)	M1V	probably null	Het
Zfp174	C	A	16: 3,666,111 (GRCm39)	H125Q	probably benign	Het
Zfpl1	T	C	19: 6,131,943 (GRCm39)	H227R	possibly damaging	Het

Other mutations in Myo1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00851:Myo1f	APN	17	33,800,938 (GRCm39)	missense	probably benign	0.01
IGL01019:Myo1f	APN	17	33,811,977 (GRCm39)	missense	possibly damaging	0.93
IGL01524:Myo1f	APN	17	33,798,857 (GRCm39)	missense	probably damaging	1.00
IGL01744:Myo1f	APN	17	33,802,654 (GRCm39)	splice site	probably benign
IGL01951:Myo1f	APN	17	33,816,991 (GRCm39)	missense	possibly damaging	0.64
IGL02132:Myo1f	APN	17	33,798,945 (GRCm39)	missense	probably benign	0.10
IGL02170:Myo1f	APN	17	33,797,246 (GRCm39)	missense	probably benign	0.14
IGL02173:Myo1f	APN	17	33,826,318 (GRCm39)	missense	probably damaging	1.00
IGL02277:Myo1f	APN	17	33,798,835 (GRCm39)	splice site	probably null
IGL02550:Myo1f	APN	17	33,799,124 (GRCm39)	unclassified	probably benign
IGL02550:Myo1f	APN	17	33,807,116 (GRCm39)	missense	probably damaging	1.00
IGL02615:Myo1f	APN	17	33,823,630 (GRCm39)	missense	probably benign
IGL02801:Myo1f	APN	17	33,797,111 (GRCm39)	missense	probably damaging	1.00
IGL02817:Myo1f	APN	17	33,823,532 (GRCm39)	missense	probably benign	0.06
IGL02904:Myo1f	APN	17	33,804,632 (GRCm39)	nonsense	probably null
IGL03056:Myo1f	APN	17	33,804,574 (GRCm39)	missense	probably damaging	1.00
IGL03334:Myo1f	APN	17	33,817,168 (GRCm39)	missense	probably damaging	1.00
R0066:Myo1f	UTSW	17	33,820,677 (GRCm39)	missense	probably damaging	0.98
R0066:Myo1f	UTSW	17	33,820,677 (GRCm39)	missense	probably damaging	0.98
R0321:Myo1f	UTSW	17	33,811,986 (GRCm39)	missense	probably benign	0.31
R0375:Myo1f	UTSW	17	33,820,930 (GRCm39)	missense	probably benign	0.27
R0487:Myo1f	UTSW	17	33,797,258 (GRCm39)	missense	probably damaging	1.00
R0925:Myo1f	UTSW	17	33,797,107 (GRCm39)	missense	probably damaging	0.96
R1394:Myo1f	UTSW	17	33,802,714 (GRCm39)	missense	probably damaging	0.96
R1395:Myo1f	UTSW	17	33,802,714 (GRCm39)	missense	probably damaging	0.96
R1474:Myo1f	UTSW	17	33,813,001 (GRCm39)	missense	possibly damaging	0.77
R1760:Myo1f	UTSW	17	33,805,172 (GRCm39)	missense	probably benign	0.03
R1965:Myo1f	UTSW	17	33,817,146 (GRCm39)	nonsense	probably null
R2409:Myo1f	UTSW	17	33,795,641 (GRCm39)	missense	probably damaging	1.00
R2432:Myo1f	UTSW	17	33,794,823 (GRCm39)	missense	probably damaging	1.00
R4610:Myo1f	UTSW	17	33,801,306 (GRCm39)	missense	probably damaging	1.00
R4785:Myo1f	UTSW	17	33,817,165 (GRCm39)	missense	possibly damaging	0.95
R5239:Myo1f	UTSW	17	33,820,709 (GRCm39)	missense	probably benign	0.00
R5881:Myo1f	UTSW	17	33,799,259 (GRCm39)	missense	possibly damaging	0.46
R5881:Myo1f	UTSW	17	33,795,627 (GRCm39)	missense	probably damaging	1.00
R6160:Myo1f	UTSW	17	33,823,318 (GRCm39)	missense	probably benign
R6210:Myo1f	UTSW	17	33,820,044 (GRCm39)	missense	probably damaging	1.00
R6365:Myo1f	UTSW	17	33,805,090 (GRCm39)	missense	probably benign
R6464:Myo1f	UTSW	17	33,795,621 (GRCm39)	missense	probably damaging	1.00
R6532:Myo1f	UTSW	17	33,794,820 (GRCm39)	missense	probably damaging	1.00
R6678:Myo1f	UTSW	17	33,794,819 (GRCm39)	missense	probably damaging	1.00
R7266:Myo1f	UTSW	17	33,820,668 (GRCm39)	missense	probably benign
R7513:Myo1f	UTSW	17	33,794,788 (GRCm39)	missense	probably damaging	1.00
R7606:Myo1f	UTSW	17	33,795,424 (GRCm39)	missense	probably damaging	1.00
R7779:Myo1f	UTSW	17	33,797,247 (GRCm39)	missense	probably benign	0.27
R7853:Myo1f	UTSW	17	33,795,672 (GRCm39)	missense	probably damaging	1.00
R7884:Myo1f	UTSW	17	33,817,270 (GRCm39)	missense	probably damaging	1.00
R8507:Myo1f	UTSW	17	33,816,992 (GRCm39)	missense	probably benign	0.09
R8807:Myo1f	UTSW	17	33,794,879 (GRCm39)	missense	probably damaging	1.00
R9009:Myo1f	UTSW	17	33,823,662 (GRCm39)	missense	probably benign	0.12
R9083:Myo1f	UTSW	17	33,813,036 (GRCm39)	missense	probably damaging	0.99
R9227:Myo1f	UTSW	17	33,795,424 (GRCm39)	missense	probably damaging	1.00
R9230:Myo1f	UTSW	17	33,795,424 (GRCm39)	missense	probably damaging	1.00
R9528:Myo1f	UTSW	17	33,797,156 (GRCm39)	critical splice donor site	probably null
X0028:Myo1f	UTSW	17	33,795,412 (GRCm39)	missense	possibly damaging	0.67
X0065:Myo1f	UTSW	17	33,820,957 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAAGAGAGACAAGTCCAGATCA -3'
(R):5'- AGAAAGTCATGCATCTGACCCA -3'

Sequencing Primer
(F):5'- CAAGTCCAGATCATAAGAGGAAGTG -3'
(R):5'- ATGCATCTGACCCAGCCTG -3'

Posted On

2019-06-26