Mutagenetix > Incidental Mutations

Incidental Mutation 'R7962:Myo1e'

650173

Institutional Source

Beutler Lab

Gene Symbol

Myo1e

Ensembl Gene

ENSMUSG00000032220

Gene Name

myosin IE

Synonyms

2310020N23Rik, 9130023P14Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7962 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70207350-70399766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70335219 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 339 (I339F)

Ref Sequence

ENSEMBL: ENSMUSP00000034745 (fasta)

Gene Model

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

PDB Structure

MYOSIN 1E SH3 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034745
AA Change: I339F

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: I339F

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	A	C	6: 41,035,453	F9C	probably benign	Het
Adgrg6	A	G	10: 14,420,684	F991L	probably damaging	Het
Ahnak	A	G	19: 9,012,800	D3816G	unknown	Het
Arhgdig	T	C	17: 26,199,634	T153A	probably damaging	Het
Ash2l	T	C	8: 25,839,764	D122G	probably damaging	Het
Bora	A	G	14: 99,072,726	K497R	probably benign	Het
Btbd9	T	C	17: 30,517,203	H312R	probably damaging	Het
Cbr2	T	C	11: 120,729,783	D225G	probably benign	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap70	G	A	14: 20,436,786	T275M	probably benign	Het
Clca4b	T	C	3: 144,916,660	D548G	possibly damaging	Het
Ctsf	T	G	19: 4,856,539	F165V	probably damaging	Het
Cyp3a44	T	A	5: 145,801,325	I57L	probably benign	Het
Dbx2	C	T	15: 95,654,318	G149S	probably benign	Het
Dennd2a	A	G	6: 39,480,273	V745A	possibly damaging	Het
Dock10	A	T	1: 80,586,368	S509R	possibly damaging	Het
Enpp3	T	C	10: 24,784,854	Y630C	probably damaging	Het
Eomes	C	T	9: 118,478,506		probably benign	Het
Fchsd1	A	T	18: 37,964,159	V385E	probably damaging	Het
Flg	A	T	3: 93,286,677	H34L	unknown	Het
Frs3	G	T	17: 47,699,538	E32D	possibly damaging	Het
Gm14443	C	T	2: 175,170,242	C137Y	probably benign	Het
Havcr1	T	A	11: 46,752,575	C107*	probably null	Het
Hectd4	C	T	5: 121,310,629	R347W	probably damaging	Het
Hist2h3b	C	A	3: 96,268,993	Y100*	probably null	Het
Hspbp1	A	G	7: 4,681,842		probably null	Het
Irs1	C	T	1: 82,288,722	R591H	possibly damaging	Het
Kif5b	A	G	18: 6,241,040	V23A	probably benign	Het
Nkx2-5	T	C	17: 26,839,176	Y268C	probably damaging	Het
Olfr834	T	C	9: 18,988,656	S223P	probably damaging	Het
Polrmt	T	C	10: 79,738,789	M857V	probably damaging	Het
Prkd3	T	A	17: 79,008,262	M1L	not run	Het
Psmc3	T	A	2: 91,056,662	V202E	possibly damaging	Het
Rab3d	G	A	9: 21,914,933	R93C	probably damaging	Het
Rasgrf2	A	C	13: 92,030,792	Y258D	probably damaging	Het
Rassf8	G	A	6: 145,815,943		probably null	Het
Rcbtb1	A	C	14: 59,221,567	S199R	probably benign	Het
Rif1	T	G	2: 52,074,276	V45G	probably damaging	Het
Riok3	G	A	18: 12,136,719	G69E	probably benign	Het
Scn1a	A	G	2: 66,328,442	L378P	probably damaging	Het
Sil1	A	T	18: 35,348,666	N113K	probably benign	Het
Slc35c2	C	T	2: 165,277,542	D293N	probably damaging	Het
Slc37a3	A	T	6: 39,347,391	S308T	possibly damaging	Het
Smarca5	A	T	8: 80,736,759	V60E	probably benign	Het
Smok3c	T	A	5: 138,065,079	V276D	probably damaging	Het
Snx29	G	A	16: 11,413,357		probably null	Het
Spata24	T	C	18: 35,662,040	E30G	probably damaging	Het
Stard13	T	A	5: 151,052,373	I777F	probably damaging	Het
Synpo2	A	G	3: 123,235,986	C8R	probably benign	Het
Tmem104	T	C	11: 115,243,481	V281A	probably damaging	Het
Tmprss11a	C	T	5: 86,420,020	G283R	probably damaging	Het
Trpc2	G	A	7: 102,089,181	V457M	probably benign	Het
Usp53	A	T	3: 122,934,351	S861T	possibly damaging	Het
Uty	G	T	Y: 1,154,210	S738*	probably null	Het
Wdr17	C	T	8: 54,660,771		probably null	Het
Wdr7	A	T	18: 63,904,086	S1194C	probably damaging	Het
Zyx	A	C	6: 42,356,571	D477A	probably damaging	Het

Other mutations in Myo1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Myo1e	APN	9	70342148	missense	probably benign	0.01
IGL00833:Myo1e	APN	9	70338778	missense	probably damaging	0.99
IGL00973:Myo1e	APN	9	70338787	missense	probably damaging	1.00
IGL01011:Myo1e	APN	9	70316589	splice site	probably benign
IGL01401:Myo1e	APN	9	70327166	missense	probably damaging	0.97
IGL01402:Myo1e	APN	9	70337766	missense	probably benign	0.02
IGL01404:Myo1e	APN	9	70337766	missense	probably benign	0.02
IGL01613:Myo1e	APN	9	70341273	splice site	probably benign
IGL01738:Myo1e	APN	9	70359370	missense	probably damaging	1.00
IGL01819:Myo1e	APN	9	70343040	splice site	probably benign
IGL02233:Myo1e	APN	9	70383799	splice site	probably benign
IGL02244:Myo1e	APN	9	70367689	missense	probably benign	0.00
IGL02440:Myo1e	APN	9	70346740	missense	probably damaging	1.00
IGL02806:Myo1e	APN	9	70362270	missense	probably benign	0.01
IGL02886:Myo1e	APN	9	70368773	missense	probably benign	0.00
IGL03178:Myo1e	APN	9	70286949	missense	possibly damaging	0.47
I2288:Myo1e	UTSW	9	70342097	missense	possibly damaging	0.80
R0036:Myo1e	UTSW	9	70341308	missense	probably damaging	1.00
R0238:Myo1e	UTSW	9	70342126	missense	possibly damaging	0.86
R0238:Myo1e	UTSW	9	70342126	missense	possibly damaging	0.86
R0399:Myo1e	UTSW	9	70301793	splice site	probably benign
R0526:Myo1e	UTSW	9	70322398	missense	probably damaging	1.00
R0599:Myo1e	UTSW	9	70376660	splice site	probably benign
R0656:Myo1e	UTSW	9	70367674	missense	probably damaging	1.00
R1078:Myo1e	UTSW	9	70383999	missense	probably benign
R1278:Myo1e	UTSW	9	70398785	missense	probably damaging	1.00
R1300:Myo1e	UTSW	9	70301783	missense	probably damaging	1.00
R1329:Myo1e	UTSW	9	70338738	missense	possibly damaging	0.96
R1349:Myo1e	UTSW	9	70287069	splice site	probably benign
R1463:Myo1e	UTSW	9	70338756	missense	possibly damaging	0.88
R1656:Myo1e	UTSW	9	70395934	missense	probably damaging	1.00
R1727:Myo1e	UTSW	9	70376524	missense	possibly damaging	0.88
R1789:Myo1e	UTSW	9	70338784	missense	probably damaging	1.00
R1970:Myo1e	UTSW	9	70368773	missense	probably benign	0.00
R2029:Myo1e	UTSW	9	70368687	missense	possibly damaging	0.78
R2029:Myo1e	UTSW	9	70378715	splice site	probably benign
R2039:Myo1e	UTSW	9	70320133	missense	possibly damaging	0.89
R2076:Myo1e	UTSW	9	70383877	missense	probably benign
R2256:Myo1e	UTSW	9	70378373	splice site	probably null
R2257:Myo1e	UTSW	9	70378373	splice site	probably null
R2323:Myo1e	UTSW	9	70378758	nonsense	probably null
R2443:Myo1e	UTSW	9	70327172	missense	probably benign
R4023:Myo1e	UTSW	9	70324875	missense	probably benign
R4024:Myo1e	UTSW	9	70324875	missense	probably benign
R4025:Myo1e	UTSW	9	70324875	missense	probably benign
R4026:Myo1e	UTSW	9	70324875	missense	probably benign
R4151:Myo1e	UTSW	9	70297351	nonsense	probably null
R4764:Myo1e	UTSW	9	70343135	splice site	probably null
R4768:Myo1e	UTSW	9	70370469	missense	possibly damaging	0.63
R4911:Myo1e	UTSW	9	70343096	missense	probably benign
R4995:Myo1e	UTSW	9	70353272	missense	probably benign	0.01
R4999:Myo1e	UTSW	9	70353312	missense	probably damaging	1.00
R5228:Myo1e	UTSW	9	70322358	splice site	probably null
R5414:Myo1e	UTSW	9	70322358	splice site	probably null
R5577:Myo1e	UTSW	9	70370471	missense	probably benign	0.31
R5851:Myo1e	UTSW	9	70383804	missense	probably benign	0.17
R6208:Myo1e	UTSW	9	70376605	missense	probably damaging	0.99
R6907:Myo1e	UTSW	9	70327155	missense	probably benign
R7084:Myo1e	UTSW	9	70337801	missense	probably damaging	0.96
R7313:Myo1e	UTSW	9	70359385	critical splice donor site	probably null
R7383:Myo1e	UTSW	9	70297295	missense	probably damaging	1.00
R7811:Myo1e	UTSW	9	70327262	missense	probably damaging	0.96
R8309:Myo1e	UTSW	9	70346763	missense	possibly damaging	0.90
R8510:Myo1e	UTSW	9	70335265	missense	probably damaging	1.00
R8513:Myo1e	UTSW	9	70320088	missense	probably damaging	1.00
X0021:Myo1e	UTSW	9	70378273	missense	probably damaging	0.99
X0065:Myo1e	UTSW	9	70378294	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTTCCGTGTGCTCGGTAGATAG -3'
(R):5'- GTTGGGTTCAAGATTCACCAG -3'

Sequencing Primer
(F):5'- GCTCGGTAGATAGTGGTTACAATTC -3'
(R):5'- TTGGGTTCAAGATTCACCAGAAACAG -3'

Posted On

2020-09-15