Mutagenetix > Incidental Mutations

Incidental Mutation 'R4764:Myo1e'

357106

Institutional Source

Beutler Lab

Gene Symbol

Myo1e

Ensembl Gene

ENSMUSG00000032220

Gene Name

myosin IE

Synonyms

2310020N23Rik, 9130023P14Rik

MMRRC Submission

042405-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4764 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

70207350-70399766 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 70343135 bp

Zygosity

Heterozygous

Amino Acid Change

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

probably null
Transcript: ENSMUST00000034745

SMART Domains

Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	G	5: 146,185,219	S18R	probably benign	Het
2010315B03Rik	A	C	9: 124,293,766	V176G	probably benign	Het
Abcb1a	T	A	5: 8,715,732		probably null	Het
Acad11	C	A	9: 104,075,877	P102T	probably damaging	Het
Aggf1	T	A	13: 95,364,713	D387V	probably damaging	Het
Akr1c13	G	A	13: 4,198,497	V234I	probably benign	Het
Alg5	A	G	3: 54,746,473	Y210C	possibly damaging	Het
Arl8a	C	A	1: 135,147,099	A41E	probably benign	Het
Axin1	C	A	17: 26,173,756	T337K	possibly damaging	Het
Bdp1	A	G	13: 100,056,267	L1353P	probably damaging	Het
Bptf	A	T	11: 107,043,694	V2851E	probably damaging	Het
C9	A	T	15: 6,459,643	E160D	probably damaging	Het
Cbx6	T	C	15: 79,828,680	D182G	probably damaging	Het
Ccdc144b	T	G	3: 36,010,660	*521C	probably null	Het
Cep57l1	T	C	10: 41,721,682	R242G	possibly damaging	Het
Chst8	T	C	7: 34,675,724	D230G	probably damaging	Het
Col3a1	A	C	1: 45,346,110	D129A	probably damaging	Het
Cst12	A	G	2: 148,789,473	E38G	possibly damaging	Het
Disp1	G	T	1: 183,088,096	A920E	probably damaging	Het
Dtna	T	G	18: 23,535,149		probably null	Het
Elp3	T	A	14: 65,582,929	H97L	probably damaging	Het
Exoc8	A	G	8: 124,897,575	F18L	possibly damaging	Het
Extl3	T	C	14: 65,077,320	T138A	probably benign	Het
Foxi2	G	T	7: 135,410,667	G95C	probably damaging	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Frem1	A	T	4: 82,989,189	D811E	probably damaging	Het
Frmd4a	A	T	2: 4,603,448	E709V	probably damaging	Het
Fscn3	T	A	6: 28,436,201	*499K	probably null	Het
Galc	C	T	12: 98,242,744	G217D	possibly damaging	Het
Gm5592	G	T	7: 41,216,118		probably benign	Het
Hnrnpul1	A	G	7: 25,743,011	S269P	probably benign	Het
Hrh1	T	C	6: 114,480,535	V259A	probably benign	Het
Lef1	T	C	3: 131,184,733	S167P	probably benign	Het
Mtf2	T	C	5: 108,093,352	I248T	probably benign	Het
Muc2	C	T	7: 141,745,608	T130M	possibly damaging	Het
Myo16	T	C	8: 10,435,880	F653S	probably damaging	Het
Myo5a	G	T	9: 75,116,336		probably benign	Het
Nlrp1b	T	A	11: 71,182,663	D118V	probably damaging	Het
Npat	T	C	9: 53,572,620	F1412S	probably damaging	Het
Olfr1377	G	A	11: 50,984,775	E25K	probably benign	Het
Olfr884	T	G	9: 38,048,140	L306R	probably benign	Het
Onecut3	G	T	10: 80,495,707	A234S	unknown	Het
Osbpl6	T	A	2: 76,546,000	I73K	probably damaging	Het
Otog	C	T	7: 46,288,519	T1884I	probably benign	Het
Pax6	C	A	2: 105,696,502	P251Q	probably benign	Het
Pias4	A	G	10: 81,164,034	Y62H	possibly damaging	Het
Pknox1	T	A	17: 31,590,713	V97D	possibly damaging	Het
Plekhf1	A	G	7: 38,221,598	V182A	probably damaging	Het
Plscr4	T	C	9: 92,484,780	V149A	probably damaging	Het
Polr2l	A	T	7: 141,473,396	L35Q	probably damaging	Het
Ppp3ca	T	C	3: 136,890,489	I305T	probably damaging	Het
Ptprg	G	A	14: 12,122,068	A311T	probably benign	Het
Raet1e	T	G	10: 22,181,332	I185R	probably damaging	Het
Rims1	A	C	1: 22,479,462	V520G	probably damaging	Het
Rp1	A	T	1: 4,345,878	D1670E	probably damaging	Het
Rps6ka1	A	T	4: 133,860,557	I352N	probably damaging	Het
Rtp3	T	C	9: 110,987,350		probably benign	Het
Ryr3	T	A	2: 112,733,031		probably null	Het
Sall3	A	G	18: 80,974,476	V79A	probably damaging	Het
Sdsl	C	T	5: 120,462,054	V93M	probably damaging	Het
Slc7a13	A	G	4: 19,819,390	N197D	probably benign	Het
Slit1	T	A	19: 41,721,044	R137*	probably null	Het
Stxbp5	C	A	10: 9,770,623	R115L	probably damaging	Het
Tcea1	G	A	1: 4,894,944	R290H	probably damaging	Het
Tmem132e	A	T	11: 82,434,512	T113S	probably damaging	Het
Tpp1	A	T	7: 105,749,251	I286N	probably damaging	Het
Trio	G	A	15: 27,732,538	R3086*	probably null	Het
Usp22	T	A	11: 61,160,636	N294Y	probably damaging	Het
Usp44	T	A	10: 93,846,071	S128T	probably benign	Het
Zc3h7b	T	C	15: 81,769,183		probably null	Het
Zfhx2	T	C	14: 55,066,915	Y1204C	possibly 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
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
R7962:Myo1e	UTSW	9	70335219	missense	possibly damaging	0.64
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'- GGACCACCATGCTCACTTAAGG -3'
(R):5'- GTTGAAACAACACCATCACTGG -3'

Sequencing Primer
(F):5'- ATGACATGGACGGCTTCT -3'
(R):5'- TCTAGAGGACCTGGGTTCAACTC -3'

Posted On

2015-11-11