Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00833:Myo1e'

12170

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 #

IGL00833

Quality Score

Status

Chromosome

Chromosomal Location

70114632-70307048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70246060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 417 (I417T)

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: I417T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: I417T

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,108,006 (GRCm39)	E350G	probably damaging	Het
Apob	T	C	12: 8,060,101 (GRCm39)	V2861A	probably benign	Het
Bpifb9a	C	T	2: 154,106,195 (GRCm39)	Q358*	probably null	Het
Cbfa2t2	T	A	2: 154,370,795 (GRCm39)	Y423N	probably damaging	Het
Cd209e	A	C	8: 3,902,800 (GRCm39)	M102R	probably benign	Het
Ddx42	T	A	11: 106,122,004 (GRCm39)	V173D	possibly damaging	Het
Dnah11	A	G	12: 118,143,315 (GRCm39)	F443L	probably damaging	Het
Exoc4	G	A	6: 33,948,859 (GRCm39)	E901K	probably damaging	Het
Gp5	T	C	16: 30,128,284 (GRCm39)	D130G	possibly damaging	Het
H2-T3	T	G	17: 36,497,933 (GRCm39)	S327R	probably benign	Het
Nasp	A	G	4: 116,459,933 (GRCm39)	V377A	probably damaging	Het
Nbn	A	G	4: 15,964,320 (GRCm39)	I132V	probably benign	Het
Nckap5	C	A	1: 125,954,889 (GRCm39)	K622N	probably damaging	Het
Nlrp4e	G	A	7: 23,039,896 (GRCm39)	V740I	probably benign	Het
Polr3gl	T	G	3: 96,485,876 (GRCm39)	D130A	probably damaging	Het
Ptprc	T	C	1: 138,006,230 (GRCm39)	K784R	possibly damaging	Het
Sycp1	A	G	3: 102,783,617 (GRCm39)		probably null	Het
Tg	C	T	15: 66,560,650 (GRCm39)	T1004I	probably benign	Het
Tmco5b	T	A	2: 113,127,194 (GRCm39)	I255N	probably damaging	Het
Ubr4	G	A	4: 139,120,470 (GRCm39)		probably null	Het
Zeb1	A	G	18: 5,767,774 (GRCm39)	T762A	probably benign	Het
Zfp345	T	C	2: 150,314,649 (GRCm39)	E296G	probably damaging	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
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
IGL01401:Myo1e	APN	9	70,234,448 (GRCm39)	missense	probably damaging	0.97
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

2012-12-06