Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00973:Myo1e'

28253

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 #

IGL00973

Quality Score

Status

Chromosome

Chromosomal Location

70114632-70307048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70246069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 420 (T420M)

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: T420M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: T420M

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10a	G	T	7: 58,457,218 (GRCm39)	D906Y	probably damaging	Het
Cdh18	A	G	15: 23,173,882 (GRCm39)	K32R	probably damaging	Het
Chtf18	G	A	17: 25,941,090 (GRCm39)	A636V	probably benign	Het
Clcn6	A	G	4: 148,098,245 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,758 (GRCm39)	K374Q	possibly damaging	Het
Ehmt2	C	T	17: 35,129,791 (GRCm39)	R962C	probably damaging	Het
Frrs1l	T	C	4: 56,972,369 (GRCm39)	K111E	probably damaging	Het
Galnt5	A	G	2: 57,888,951 (GRCm39)	T184A	probably benign	Het
Glud1	C	T	14: 34,041,899 (GRCm39)	T169I	probably damaging	Het
Hinfp	T	G	9: 44,209,436 (GRCm39)	D283A	probably benign	Het
Hmcn2	C	T	2: 31,273,833 (GRCm39)		probably benign	Het
Hs6st3	A	T	14: 120,106,819 (GRCm39)	Y409F	possibly damaging	Het
Ighv15-2	A	T	12: 114,528,490 (GRCm39)	V20D	possibly damaging	Het
Kif17	A	G	4: 138,002,368 (GRCm39)	T91A	probably benign	Het
Mical3	T	C	6: 120,911,885 (GRCm39)		probably benign	Het
Or8b12c	C	A	9: 37,716,078 (GRCm39)	S290R	probably damaging	Het
Ovgp1	T	A	3: 105,888,593 (GRCm39)	Y316*	probably null	Het
Plekha1	T	A	7: 130,512,743 (GRCm39)	V313D	probably damaging	Het
Polr1e	C	A	4: 45,031,364 (GRCm39)		probably benign	Het
Prdm15	A	T	16: 97,607,367 (GRCm39)		probably benign	Het
Ptpn4	T	A	1: 119,669,101 (GRCm39)	M250L	probably benign	Het
Rtn1	A	T	12: 72,455,285 (GRCm39)	L14Q	probably benign	Het
Sec24a	T	C	11: 51,620,404 (GRCm39)		probably null	Het
Sox7	A	G	14: 64,185,636 (GRCm39)	H224R	probably benign	Het
Styxl2	T	C	1: 165,927,027 (GRCm39)	S862G	probably benign	Het
Sucla2	T	C	14: 73,828,347 (GRCm39)	I318T	possibly damaging	Het
Tubb4b-ps1	A	G	5: 7,229,408 (GRCm39)		probably benign	Het
Ube2o	T	A	11: 116,432,031 (GRCm39)	K940M	probably damaging	Het
Usp20	A	C	2: 30,894,962 (GRCm39)	N149T	probably damaging	Het
Utp6	C	T	11: 79,846,531 (GRCm39)	W150*	probably null	Het
Wdr27	A	C	17: 15,134,140 (GRCm39)	H475Q	probably benign	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
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

2013-04-17