Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02550:Myo1f'

298005

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 #

IGL02550

Quality Score

Status

Chromosome

Chromosomal Location

33555719-33607764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33588142 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 522 (D522N)

Ref Sequence

ENSEMBL: ENSMUSP00000134715 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000087605
AA Change: D522N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084887
Gene: ENSMUSG00000024300
AA Change: D522N

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: D522N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134715
Gene: ENSMUSG00000024300
AA Change: D522N

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109I03Rik	T	G	15: 74,880,755	H24P	probably damaging	Het
Acadl	A	G	1: 66,845,166		probably null	Het
Acer3	G	A	7: 98,223,978	T171I	probably benign	Het
Acsm2	C	T	7: 119,573,284	P117S	probably damaging	Het
Anxa2	A	G	9: 69,467,306	S22G	probably benign	Het
Arrb2	T	C	11: 70,436,870	I120T	probably damaging	Het
Atp11a	G	T	8: 12,816,997	K141N	possibly damaging	Het
Casd1	T	C	6: 4,642,009	V762A	probably benign	Het
Ccdc61	A	T	7: 18,893,302	S48T	probably benign	Het
Cntn2	T	C	1: 132,529,063	M82V	probably null	Het
Cobll1	A	G	2: 65,107,863	S359P	probably damaging	Het
Ctnnbl1	C	A	2: 157,884,135	D465E	probably benign	Het
Def6	A	T	17: 28,228,261	E622V	probably benign	Het
Dmgdh	T	C	13: 93,717,575	Y678H	probably damaging	Het
Dock9	A	T	14: 121,698,312	M1K	probably null	Het
Esyt1	T	C	10: 128,522,093	K216E	probably damaging	Het
Fhod3	A	G	18: 25,022,960	D545G	probably benign	Het
Galnt12	A	T	4: 47,104,126	D128V	possibly damaging	Het
Gm1110	C	T	9: 26,881,834	V549I	probably benign	Het
Gm1966	A	T	7: 106,601,639		noncoding transcript	Het
Gm7361	A	G	5: 26,261,122	I161V	possibly damaging	Het
Gsn	T	C	2: 35,282,607		probably benign	Het
Il16	T	A	7: 83,674,496	Q282L	possibly damaging	Het
Il3ra	A	G	14: 14,348,055	D67G	probably benign	Het
Insrr	T	C	3: 87,804,498	L515P	probably damaging	Het
Jhy	A	G	9: 40,917,170	F480S	probably benign	Het
Klc4	C	A	17: 46,636,910		probably null	Het
Klhl12	G	T	1: 134,467,705	C135F	possibly damaging	Het
Mboat7	G	T	7: 3,683,906		probably null	Het
Nbea	C	A	3: 56,019,414	M789I	probably damaging	Het
Ncapd2	T	C	6: 125,177,447	D602G	probably benign	Het
Ncaph2	A	T	15: 89,369,861	K344*	probably null	Het
Nek2	A	G	1: 191,822,259	Y70C	probably damaging	Het
Olfr1277	T	A	2: 111,270,004	D121V	probably damaging	Het
Olfr1281	T	C	2: 111,328,500	L27P	probably damaging	Het
Olfr31	T	C	14: 14,328,423	L104P	possibly damaging	Het
Olfr857	C	A	9: 19,713,047	F73L	possibly damaging	Het
Olfr955	T	A	9: 39,470,546	Y60F	probably benign	Het
Olfr992	G	A	2: 85,399,822	A237V	probably damaging	Het
Plcb3	T	A	19: 6,960,176	K625*	probably null	Het
Plrg1	T	C	3: 83,061,123		probably null	Het
Ptpn12	A	G	5: 20,998,139	V547A	probably benign	Het
Ralgapb	A	G	2: 158,448,411	D748G	probably damaging	Het
Rcbtb2	A	G	14: 73,162,019	E41G	probably damaging	Het
Rela	G	T	19: 5,641,506	R236L	possibly damaging	Het
Rps6kc1	A	G	1: 190,871,862	S188P	probably damaging	Het
Sipa1l1	A	T	12: 82,440,949	K1666*	probably null	Het
Slco1a1	C	T	6: 141,943,465	M40I	probably benign	Het
Smarca4	C	A	9: 21,686,122	P1391Q	probably benign	Het
Stra6	A	G	9: 58,150,083	N392S	possibly damaging	Het
Syt4	A	G	18: 31,444,193	I36T	probably damaging	Het
Tgfbr2	A	T	9: 116,110,129	M235K	probably benign	Het
Tmem87a	T	A	2: 120,374,485		probably null	Het
Tmf1	T	C	6: 97,158,561	D918G	probably benign	Het
Tnfaip2	A	G	12: 111,446,101	Y312C	probably damaging	Het
Usp47	C	T	7: 112,104,354	R1178C	probably damaging	Het
Vmn2r95	T	A	17: 18,451,732	I577N	probably damaging	Het
Vps13b	T	C	15: 35,572,096	V953A	probably benign	Het
Wasl	A	G	6: 24,633,884	F127S	probably damaging	Het
Wdr1	C	T	5: 38,540,863	V192I	probably damaging	Het
Wnt9a	C	T	11: 59,330,918	T214I	probably damaging	Het
Xpo5	A	G	17: 46,229,329	D693G	probably benign	Het
Zan	A	G	5: 137,387,039	L5044P	unknown	Het
Zhx3	T	C	2: 160,781,296	N317S	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	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
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

2015-04-16