Mutagenetix > Incidental Mutation

Incidental Mutation 'R6907:Myo1e'

538828

Institutional Source

Beutler Lab

Gene Symbol

Myo1e

Ensembl Gene

ENSMUSG00000032220

Gene Name

myosin IE

Synonyms

2310020N23Rik, 9130023P14Rik

MMRRC Submission

044999-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6907 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70114632-70307048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70234437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 263 (N263K)

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 benign
Transcript: ENSMUST00000034745
AA Change: N263K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: N263K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (38/39)

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
Adat1	T	C	8: 112,698,793 (GRCm39)	I344V	probably benign	Het
Bmper	A	T	9: 23,310,868 (GRCm39)	Q434L	probably damaging	Het
Cabyr	A	G	18: 12,883,969 (GRCm39)	Y152C	probably benign	Het
Cactin	G	A	10: 81,159,278 (GRCm39)		probably null	Het
Cadps2	T	C	6: 23,599,505 (GRCm39)	D238G	probably damaging	Het
Card10	T	C	15: 78,671,671 (GRCm39)	T598A	possibly damaging	Het
Ctr9	C	T	7: 110,629,449 (GRCm39)	P25L	probably damaging	Het
Entpd5	T	C	12: 84,424,127 (GRCm39)	T409A	probably benign	Het
Exd1	A	G	2: 119,363,957 (GRCm39)	V137A	probably damaging	Het
Fcgbp	G	A	7: 27,784,443 (GRCm39)	G168R	probably damaging	Het
Ift88	A	G	14: 57,683,067 (GRCm39)	N248S	probably benign	Het
Kntc1	T	A	5: 123,939,888 (GRCm39)	Y1561N	probably damaging	Het
Mef2c	A	G	13: 83,802,730 (GRCm39)	D227G	probably benign	Het
Myh2	C	T	11: 67,084,567 (GRCm39)	T1702M	probably damaging	Het
Nfe2l1	A	G	11: 96,710,636 (GRCm39)	L373P	probably damaging	Het
Nob1	C	T	8: 108,142,860 (GRCm39)	V274M	possibly damaging	Het
Ntng2	A	G	2: 29,118,218 (GRCm39)	C77R	probably damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or10ad1c	T	C	15: 98,085,649 (GRCm39)	N10D	probably damaging	Het
Or5p55	T	C	7: 107,567,459 (GRCm39)	L285P	probably damaging	Het
Pcdh7	T	A	5: 57,876,471 (GRCm39)	W9R	possibly damaging	Het
Pcdha1	A	G	18: 37,064,124 (GRCm39)	T263A	probably benign	Het
Per3	C	T	4: 151,128,015 (GRCm39)		probably null	Het
Pgbd5	A	G	8: 125,107,021 (GRCm39)	F265L	probably damaging	Het
Ppm1k	T	G	6: 57,487,755 (GRCm39)	E356A	probably benign	Het
Ptgfr	G	T	3: 151,540,938 (GRCm39)	T190K	possibly damaging	Het
Sec24a	A	G	11: 51,603,103 (GRCm39)	Y782H	probably damaging	Het
Setd1b	T	C	5: 123,301,295 (GRCm39)		probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,090,323 (GRCm39)	T253I	possibly damaging	Het
Tcf4	C	T	18: 69,785,484 (GRCm39)	T207M	probably damaging	Het
Thada	T	C	17: 84,700,897 (GRCm39)	N1203S	probably damaging	Het
Tln2	A	T	9: 67,304,917 (GRCm39)	S5T	probably damaging	Het
Traf4	C	T	11: 78,051,268 (GRCm39)	R296Q	probably benign	Het
Ttbk2	A	G	2: 120,655,751 (GRCm39)	S38P	probably benign	Het
Vrk1	G	T	12: 106,041,291 (GRCm39)	Q395H	possibly damaging	Het
Vwa3a	G	T	7: 120,391,804 (GRCm39)		probably benign	Het
Wdsub1	C	T	2: 59,692,028 (GRCm39)	V335I	possibly 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGAGTGACTACCCAGCTCAC -3'
(R):5'- CATGCACCTCACTAGCAATCTAGG -3'

Sequencing Primer
(F):5'- CACTGATCACCTTGTTTGATGGAGAC -3'
(R):5'- CTAGCAATCTAGGCCAATCAAAGGG -3'

Posted On

2018-11-06