Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Myo1f'

16298

Institutional Source

Beutler Lab

Gene Symbol

Myo1f

Ensembl Gene

ENSMUSG00000024300

Gene Name

myosin IF

Synonyms

C330006B10Rik

MMRRC Submission

038357-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R0066 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

33774681-33826738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33820677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 840 (D840G)

Ref Sequence

ENSEMBL: ENSMUSP00000084887 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000087605
AA Change: D840G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084887
Gene: ENSMUSG00000024300
AA Change: D840G

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

Meta Mutation Damage Score

0.7718

Coding Region Coverage

1x: 89.0%
3x: 85.6%
10x: 75.4%
20x: 57.8%

Validation Efficiency

94% (112/119)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,119,177 (GRCm39)		noncoding transcript	Het
Aco2	T	C	15: 81,787,666 (GRCm39)		probably benign	Het
Arsa	T	A	15: 89,358,539 (GRCm39)	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,614,708 (GRCm39)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,221,372 (GRCm39)	I174N	probably damaging	Het
Bptf	A	G	11: 106,952,962 (GRCm39)	V199A	possibly damaging	Het
Btn2a2	T	A	13: 23,662,655 (GRCm39)	I432L	probably benign	Het
Ccdc150	A	G	1: 54,395,850 (GRCm39)	I778V	probably benign	Het
Cd200r2	G	A	16: 44,730,037 (GRCm39)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,786,964 (GRCm39)	L1421R	probably damaging	Het
Col6a6	A	T	9: 105,579,412 (GRCm39)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,795,418 (GRCm39)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,214,976 (GRCm39)	N32K	probably benign	Het
Ctrb1	G	A	8: 112,413,269 (GRCm39)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,275,958 (GRCm39)	M208L	probably benign	Het
Dbt	A	G	3: 116,337,478 (GRCm39)	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm39)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,226,447 (GRCm39)	N361I	probably benign	Het
Dnm3	A	G	1: 162,234,930 (GRCm39)	V70A	probably damaging	Het
Dpy19l2	G	A	9: 24,557,679 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,228,634 (GRCm39)	H2254N	possibly damaging	Het
Eif2b1	T	G	5: 124,711,858 (GRCm39)		probably null	Het
Epm2aip1	A	G	9: 111,101,531 (GRCm39)	N168S	probably benign	Het
Fchsd2	A	G	7: 100,927,631 (GRCm39)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,788,398 (GRCm39)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,477,963 (GRCm39)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,679,404 (GRCm39)	I211F	probably damaging	Het
Gm15130	A	G	2: 110,969,284 (GRCm39)		probably benign	Het
Gm19618	A	T	6: 87,691,227 (GRCm39)			Het
Gpatch1	G	A	7: 34,986,652 (GRCm39)	S768L	probably damaging	Het
Grb14	T	G	2: 64,768,836 (GRCm39)		probably null	Het
Hnrnpd	T	C	5: 100,112,560 (GRCm39)	E222G	probably damaging	Het
Ighv1-4	A	G	12: 114,450,989 (GRCm39)	S40P	possibly damaging	Het
Kcnh4	T	C	11: 100,648,626 (GRCm39)	H26R	probably benign	Het
Kctd2	T	G	11: 115,320,343 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,325,943 (GRCm39)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,969,902 (GRCm39)		probably benign	Het
Mmab	T	C	5: 114,574,526 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,266,011 (GRCm39)	S310P	probably benign	Het
Mrps21	T	C	3: 95,770,197 (GRCm39)	Y44C	probably null	Het
Myh10	T	A	11: 68,590,317 (GRCm39)	F121Y	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm39)		probably benign	Het
Ntsr2	T	C	12: 16,704,120 (GRCm39)	I207T	probably benign	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Or11j4	T	A	14: 50,630,659 (GRCm39)	F149I	probably benign	Het
Pkd1l3	G	T	8: 110,347,103 (GRCm39)	G159C	unknown	Het
Plcb4	T	C	2: 135,803,689 (GRCm39)	S521P	probably benign	Het
Plcl1	A	T	1: 55,752,634 (GRCm39)	I993F	probably damaging	Het
Plekha7	T	C	7: 115,756,743 (GRCm39)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,240,222 (GRCm39)	N993T	probably benign	Het
Reck	A	G	4: 43,930,936 (GRCm39)	N646D	probably damaging	Het
Rfx2	A	T	17: 57,093,736 (GRCm39)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm39)	Q436*	probably null	Het
Ryr1	C	T	7: 28,704,992 (GRCm39)		probably benign	Het
Sema6b	A	G	17: 56,435,271 (GRCm39)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,909,833 (GRCm39)	M73I	probably benign	Het
Slc39a6	T	C	18: 24,732,326 (GRCm39)	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,391,875 (GRCm39)	V520F	probably benign	Het
Sptan1	C	A	2: 29,893,679 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,879,027 (GRCm39)		probably benign	Het
Tbc1d17	C	T	7: 44,493,495 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,394,590 (GRCm39)	L49*	probably null	Het
Tulp4	A	T	17: 6,252,008 (GRCm39)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 103,798,145 (GRCm39)	W451R	probably damaging	Het
Usp53	G	T	3: 122,746,956 (GRCm39)	C363*	probably null	Het
Utp4	A	G	8: 107,649,530 (GRCm39)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,428,641 (GRCm39)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,463,409 (GRCm39)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 21,109,998 (GRCm39)	R306G	probably benign	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het
Vps8	A	G	16: 21,296,273 (GRCm39)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,796,937 (GRCm39)	Y104*	probably null	Het
Xab2	A	T	8: 3,663,880 (GRCm39)	N346K	probably damaging	Het
Zdhhc12	C	T	2: 29,982,547 (GRCm39)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,043,064 (GRCm39)	S379P	probably benign	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
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
R7241:Myo1f	UTSW	17	33,798,902 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2013-01-20