Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01401:Myo1e'

79642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo1e

Ensembl Gene

ENSMUSG00000032220

Gene Name

myosin IE

Synonyms

2310020N23Rik, 9130023P14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01401

Quality Score

Status

Chromosome

Chromosomal Location

70114632-70307048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70234448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 267 (I267N)

Ref Sequence

ENSEMBL: ENSMUSP00000034745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034745] [ENSMUST00000214042]

AlphaFold

E9Q634

PDB Structure

MYOSIN 1E SH3 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034745
AA Change: I267N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: I267N

Domain	Start	End	E-Value	Type
MYSc	13	693	N/A	SMART
Pfam:Myosin_TH1	719	917	1e-55	PFAM
SH3	1053	1107	2.12e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000214042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214767

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects. Homozygotes for a knock-out allele show proteinuria, chronic renal injury, kidney inflammation, and defects in renal filtration and podocyte organization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,836,516 (GRCm39)	V758A	possibly damaging	Het
Arf4	T	C	14: 26,359,609 (GRCm39)	L12P	probably damaging	Het
Bltp1	A	G	3: 36,996,441 (GRCm39)	N1051S	probably benign	Het
C4bp	A	T	1: 130,575,801 (GRCm39)	V230E	possibly damaging	Het
Carm1	T	A	9: 21,480,878 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Ceacam16	T	C	7: 19,595,054 (GRCm39)	Y8C	probably benign	Het
Ckap2l	A	T	2: 129,111,136 (GRCm39)	V687E	probably damaging	Het
Dcaf4	A	G	12: 83,588,148 (GRCm39)	D449G	probably damaging	Het
Dhx38	T	C	8: 110,278,746 (GRCm39)	Y1113C	probably benign	Het
Fry	A	G	5: 150,362,253 (GRCm39)	I161V	probably benign	Het
Gm17093	A	C	14: 44,758,984 (GRCm39)	M169L	unknown	Het
Gm20721	A	G	2: 174,187,295 (GRCm39)	D999G	probably damaging	Het
Grin2b	T	C	6: 135,713,361 (GRCm39)	H840R	probably damaging	Het
Hoxc12	C	A	15: 102,845,755 (GRCm39)	H156Q	probably benign	Het
Htr3b	T	C	9: 48,858,934 (GRCm39)	D68G	probably damaging	Het
Inpp5b	T	C	4: 124,639,880 (GRCm39)	V99A	probably damaging	Het
Klhl42	C	T	6: 147,009,241 (GRCm39)	T360M	probably benign	Het
Lmo7	C	T	14: 102,031,713 (GRCm39)	R36*	probably null	Het
Lmod3	T	G	6: 97,229,513 (GRCm39)	N7T	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mthfd2l	T	A	5: 91,148,425 (GRCm39)	I284K	possibly damaging	Het
Or13c7d	T	C	4: 43,770,112 (GRCm39)	R300G	probably damaging	Het
Or2y1g	T	A	11: 49,171,314 (GRCm39)	V113E	possibly damaging	Het
Prkce	T	C	17: 86,476,268 (GRCm39)	V83A	probably damaging	Het
Pxdn	G	T	12: 30,051,983 (GRCm39)	C540F	probably damaging	Het
Resf1	A	G	6: 149,228,394 (GRCm39)	E480G	probably damaging	Het
Ryr2	T	A	13: 11,606,238 (GRCm39)	E4448V	possibly damaging	Het
Scn1a	A	T	2: 66,119,455 (GRCm39)	N1349K	probably damaging	Het
Smarcc1	T	C	9: 109,979,033 (GRCm39)	I172T	possibly damaging	Het
Syt16	T	C	12: 74,269,437 (GRCm39)	V92A	possibly damaging	Het
Tenm4	A	G	7: 96,523,474 (GRCm39)	Y1672C	probably damaging	Het
Tmem131	A	G	1: 36,838,468 (GRCm39)	Y1486H	probably damaging	Het
Tmem132a	A	G	19: 10,838,888 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,921,920 (GRCm39)	D314E	probably damaging	Het
Vmn2r79	G	A	7: 86,686,481 (GRCm39)	V621I	probably benign	Het
Wnk4	A	G	11: 101,167,509 (GRCm39)		probably benign	Het
Wwc1	C	A	11: 35,789,445 (GRCm39)		probably null	Het

Other mutations in Myo1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Myo1e	APN	9	70,249,430 (GRCm39)	missense	probably benign	0.01
IGL00833:Myo1e	APN	9	70,246,060 (GRCm39)	missense	probably damaging	0.99
IGL00973:Myo1e	APN	9	70,246,069 (GRCm39)	missense	probably damaging	1.00
IGL01011:Myo1e	APN	9	70,223,871 (GRCm39)	splice site	probably benign
IGL01402:Myo1e	APN	9	70,245,048 (GRCm39)	missense	probably benign	0.02
IGL01404:Myo1e	APN	9	70,245,048 (GRCm39)	missense	probably benign	0.02
IGL01613:Myo1e	APN	9	70,248,555 (GRCm39)	splice site	probably benign
IGL01738:Myo1e	APN	9	70,266,652 (GRCm39)	missense	probably damaging	1.00
IGL01819:Myo1e	APN	9	70,250,322 (GRCm39)	splice site	probably benign
IGL02233:Myo1e	APN	9	70,291,081 (GRCm39)	splice site	probably benign
IGL02244:Myo1e	APN	9	70,274,971 (GRCm39)	missense	probably benign	0.00
IGL02440:Myo1e	APN	9	70,254,022 (GRCm39)	missense	probably damaging	1.00
IGL02806:Myo1e	APN	9	70,269,552 (GRCm39)	missense	probably benign	0.01
IGL02886:Myo1e	APN	9	70,276,055 (GRCm39)	missense	probably benign	0.00
IGL03178:Myo1e	APN	9	70,194,231 (GRCm39)	missense	possibly damaging	0.47
I2288:Myo1e	UTSW	9	70,249,379 (GRCm39)	missense	possibly damaging	0.80
R0036:Myo1e	UTSW	9	70,248,590 (GRCm39)	missense	probably damaging	1.00
R0238:Myo1e	UTSW	9	70,249,408 (GRCm39)	missense	possibly damaging	0.86
R0238:Myo1e	UTSW	9	70,249,408 (GRCm39)	missense	possibly damaging	0.86
R0399:Myo1e	UTSW	9	70,209,075 (GRCm39)	splice site	probably benign
R0526:Myo1e	UTSW	9	70,229,680 (GRCm39)	missense	probably damaging	1.00
R0599:Myo1e	UTSW	9	70,283,942 (GRCm39)	splice site	probably benign
R0656:Myo1e	UTSW	9	70,274,956 (GRCm39)	missense	probably damaging	1.00
R1078:Myo1e	UTSW	9	70,291,281 (GRCm39)	missense	probably benign
R1278:Myo1e	UTSW	9	70,306,067 (GRCm39)	missense	probably damaging	1.00
R1300:Myo1e	UTSW	9	70,209,065 (GRCm39)	missense	probably damaging	1.00
R1329:Myo1e	UTSW	9	70,246,020 (GRCm39)	missense	possibly damaging	0.96
R1349:Myo1e	UTSW	9	70,194,351 (GRCm39)	splice site	probably benign
R1463:Myo1e	UTSW	9	70,246,038 (GRCm39)	missense	possibly damaging	0.88
R1656:Myo1e	UTSW	9	70,303,216 (GRCm39)	missense	probably damaging	1.00
R1727:Myo1e	UTSW	9	70,283,806 (GRCm39)	missense	possibly damaging	0.88
R1789:Myo1e	UTSW	9	70,246,066 (GRCm39)	missense	probably damaging	1.00
R1970:Myo1e	UTSW	9	70,276,055 (GRCm39)	missense	probably benign	0.00
R2029:Myo1e	UTSW	9	70,285,997 (GRCm39)	splice site	probably benign
R2029:Myo1e	UTSW	9	70,275,969 (GRCm39)	missense	possibly damaging	0.78
R2039:Myo1e	UTSW	9	70,227,415 (GRCm39)	missense	possibly damaging	0.89
R2076:Myo1e	UTSW	9	70,291,159 (GRCm39)	missense	probably benign
R2256:Myo1e	UTSW	9	70,285,655 (GRCm39)	splice site	probably null
R2257:Myo1e	UTSW	9	70,285,655 (GRCm39)	splice site	probably null
R2323:Myo1e	UTSW	9	70,286,040 (GRCm39)	nonsense	probably null
R2443:Myo1e	UTSW	9	70,234,454 (GRCm39)	missense	probably benign
R4023:Myo1e	UTSW	9	70,232,157 (GRCm39)	missense	probably benign
R4024:Myo1e	UTSW	9	70,232,157 (GRCm39)	missense	probably benign
R4025:Myo1e	UTSW	9	70,232,157 (GRCm39)	missense	probably benign
R4026:Myo1e	UTSW	9	70,232,157 (GRCm39)	missense	probably benign
R4151:Myo1e	UTSW	9	70,204,633 (GRCm39)	nonsense	probably null
R4764:Myo1e	UTSW	9	70,250,417 (GRCm39)	splice site	probably null
R4768:Myo1e	UTSW	9	70,277,751 (GRCm39)	missense	possibly damaging	0.63
R4911:Myo1e	UTSW	9	70,250,378 (GRCm39)	missense	probably benign
R4995:Myo1e	UTSW	9	70,260,554 (GRCm39)	missense	probably benign	0.01
R4999:Myo1e	UTSW	9	70,260,594 (GRCm39)	missense	probably damaging	1.00
R5228:Myo1e	UTSW	9	70,229,640 (GRCm39)	splice site	probably null
R5414:Myo1e	UTSW	9	70,229,640 (GRCm39)	splice site	probably null
R5577:Myo1e	UTSW	9	70,277,753 (GRCm39)	missense	probably benign	0.31
R5851:Myo1e	UTSW	9	70,291,086 (GRCm39)	missense	probably benign	0.17
R6208:Myo1e	UTSW	9	70,283,887 (GRCm39)	missense	probably damaging	0.99
R6907:Myo1e	UTSW	9	70,234,437 (GRCm39)	missense	probably benign
R7084:Myo1e	UTSW	9	70,245,083 (GRCm39)	missense	probably damaging	0.96
R7313:Myo1e	UTSW	9	70,266,667 (GRCm39)	critical splice donor site	probably null
R7383:Myo1e	UTSW	9	70,204,577 (GRCm39)	missense	probably damaging	1.00
R7811:Myo1e	UTSW	9	70,234,544 (GRCm39)	missense	probably damaging	0.96
R7962:Myo1e	UTSW	9	70,242,501 (GRCm39)	missense	possibly damaging	0.64
R8309:Myo1e	UTSW	9	70,254,045 (GRCm39)	missense	possibly damaging	0.90
R8510:Myo1e	UTSW	9	70,242,547 (GRCm39)	missense	probably damaging	1.00
R8513:Myo1e	UTSW	9	70,227,370 (GRCm39)	missense	probably damaging	1.00
R8694:Myo1e	UTSW	9	70,291,172 (GRCm39)	missense	probably benign
R8720:Myo1e	UTSW	9	70,204,570 (GRCm39)	missense	possibly damaging	0.89
R9112:Myo1e	UTSW	9	70,274,983 (GRCm39)	missense	probably benign	0.25
R9148:Myo1e	UTSW	9	70,283,830 (GRCm39)	missense	probably damaging	0.98
R9156:Myo1e	UTSW	9	70,266,605 (GRCm39)	missense	probably damaging	1.00
R9251:Myo1e	UTSW	9	70,276,076 (GRCm39)	missense	probably benign	0.00
R9541:Myo1e	UTSW	9	70,204,628 (GRCm39)	missense	probably damaging	1.00
R9624:Myo1e	UTSW	9	70,303,156 (GRCm39)	missense	probably damaging	1.00
R9660:Myo1e	UTSW	9	70,223,924 (GRCm39)	missense	probably damaging	1.00
R9728:Myo1e	UTSW	9	70,223,924 (GRCm39)	missense	probably damaging	1.00
X0021:Myo1e	UTSW	9	70,285,555 (GRCm39)	missense	probably damaging	0.99
X0065:Myo1e	UTSW	9	70,285,576 (GRCm39)	missense	possibly damaging	0.94

Posted On

2013-11-05