Mutagenetix > Incidental Mutation

Incidental Mutation 'R4026:Myo1e'

312990

Institutional Source

Beutler Lab

Gene Symbol

Myo1e

Ensembl Gene

ENSMUSG00000032220

Gene Name

myosin IE

Synonyms

2310020N23Rik, 9130023P14Rik

MMRRC Submission

040849-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4026 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70114632-70307048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70232157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 229 (I229V)

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: I229V

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

SMART Domains

Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: I229V

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

Meta Mutation Damage Score

0.2529

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.1%

Validation Efficiency

97% (36/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	T	16: 56,550,661 (GRCm39)	Y684N	probably damaging	Het
Ahnak	G	T	19: 8,988,663 (GRCm39)	V3316F	probably damaging	Het
Cacna1a	C	T	8: 85,307,962 (GRCm39)	T1409I	probably damaging	Het
Ccdc158	A	G	5: 92,791,666 (GRCm39)	M698T	probably benign	Het
Ces2g	T	A	8: 105,691,377 (GRCm39)	V171E	probably damaging	Het
Ctnna2	A	T	6: 77,613,827 (GRCm39)	D254E	possibly damaging	Het
Dlec1	T	C	9: 118,966,408 (GRCm39)	Y1126H	probably damaging	Het
Dspp	G	A	5: 104,325,563 (GRCm39)	S642N	unknown	Het
Fezf2	A	T	14: 12,343,986 (GRCm38)	C302S	probably damaging	Het
Gm10754	A	G	10: 97,517,978 (GRCm39)		probably benign	Het
Gm5581	G	A	6: 131,144,031 (GRCm39)		noncoding transcript	Het
Gm7929	T	C	14: 41,472,509 (GRCm39)	K21E	probably damaging	Het
Hmcn1	A	T	1: 150,598,120 (GRCm39)	D1727E	probably benign	Het
Lrriq4	T	C	3: 30,704,422 (GRCm39)	V150A	possibly damaging	Het
Micu3	A	G	8: 40,812,496 (GRCm39)		probably benign	Het
Mrpl3	T	C	9: 104,948,685 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,476,295 (GRCm39)	I265V	probably benign	Het
Ncoa7	T	C	10: 30,598,720 (GRCm39)	T68A	probably benign	Het
Oprk1	T	C	1: 5,668,908 (GRCm39)	V118A	probably benign	Het
Ppp3r1	T	C	11: 17,144,786 (GRCm39)	V133A	probably damaging	Het
Sidt1	A	G	16: 44,102,249 (GRCm39)	S304P	possibly damaging	Het
Srsf6	T	A	2: 162,776,211 (GRCm39)		probably benign	Het
Tas2r105	A	G	6: 131,663,789 (GRCm39)	V213A	probably benign	Het
Tlr12	C	T	4: 128,510,301 (GRCm39)	E650K	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trav4-2	T	A	14: 53,656,287 (GRCm39)	D96E	possibly damaging	Het
Vmn1r34	T	A	6: 66,614,688 (GRCm39)	M17L	probably benign	Het
Vmn2r6	A	T	3: 64,445,671 (GRCm39)	S685T	possibly damaging	Het
Vmn2r89	T	C	14: 51,689,500 (GRCm39)	M1T	probably null	Het
Wdr20	A	G	12: 110,759,950 (GRCm39)	T279A	probably benign	Het
Zfp407	A	G	18: 84,577,721 (GRCm39)	S1131P	possibly damaging	Het
Zfyve1	A	G	12: 83,641,296 (GRCm39)	V120A	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTGGAGGCTAGGATCACG -3'
(R):5'- CAGAAATGTTTACAGTAGCTGAGGG -3'

Sequencing Primer
(F):5'- GTGGCTTGTAGACCATGT -3'
(R):5'- AGGTTACACTGCTATCTGCTTTG -3'

Posted On

2015-04-30