Mutagenetix > Incidental Mutations

Incidental Mutation 'R0238:Myo1e'

59142

Institutional Source

Beutler Lab

Gene Symbol

Myo1e

Ensembl Gene

ENSMUSG00000032220

Gene Name

myosin IE

Synonyms

2310020N23Rik, 9130023P14Rik

MMRRC Submission

038476-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0238 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

70207350-70399766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70342126 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 503 (I503F)

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: I503F

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: I503F

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

0.2543

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

98% (105/107)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	G	2: 156,550,973	V94G	probably benign	Het
Acp5	A	T	9: 22,129,922	S70T	possibly damaging	Het
Adcy1	C	G	11: 7,139,162	N525K	possibly damaging	Het
Adra1d	C	A	2: 131,546,214	V474F	probably benign	Het
AI464131	A	T	4: 41,498,912	N239K	probably benign	Het
Aknad1	A	G	3: 108,781,239	M628V	probably benign	Het
Alg8	A	T	7: 97,383,684		probably null	Het
Cacna1d	A	G	14: 30,123,496	V572A	probably benign	Het
Ccdc158	A	C	5: 92,662,118	M177R	probably benign	Het
Ccdc191	A	T	16: 43,947,496	R678*	probably null	Het
Cdkn2d	C	A	9: 21,290,992		probably benign	Het
Cdx2	G	T	5: 147,303,287	T193K	probably damaging	Het
Cfap44	T	A	16: 44,422,318	M695K	probably benign	Het
Cfap70	A	C	14: 20,448,605	S5A	probably benign	Het
Chd9	T	C	8: 90,932,828	S139P	probably damaging	Het
Chmp7	A	G	14: 69,720,997	V241A	probably damaging	Het
Cnga1	A	G	5: 72,605,031	I380T	probably damaging	Het
Col4a1	C	T	8: 11,218,780		probably benign	Het
Cts6	T	A	13: 61,201,819	E53D	probably damaging	Het
Cul2	A	G	18: 3,414,115		probably benign	Het
Dclk3	A	T	9: 111,482,628	N646I	probably damaging	Het
Dnhd1	A	G	7: 105,721,531	S4673G	probably benign	Het
Dock4	G	T	12: 40,737,540	S818I	probably damaging	Het
Dysf	C	T	6: 84,064,479	Q156*	probably null	Het
Espnl	T	C	1: 91,322,287	V52A	probably damaging	Het
Fam163b	T	C	2: 27,112,634	N117S	probably damaging	Het
Fam89a	A	G	8: 124,741,232	Y114H	probably damaging	Het
Flcn	T	C	11: 59,801,076	N249S	probably benign	Het
Gnai1	A	G	5: 18,273,550	S206P	probably damaging	Het
Hal	T	C	10: 93,503,482	S478P	possibly damaging	Het
Haus3	G	A	5: 34,166,256	P337S	possibly damaging	Het
Hectd1	T	A	12: 51,769,318	M1324L	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Hpn	G	T	7: 31,099,390		probably benign	Het
Hspa9	A	T	18: 34,946,646	Y243*	probably null	Het
Htr3a	T	C	9: 48,906,386	T96A	probably benign	Het
Ift140	C	A	17: 25,045,523	C557*	probably null	Het
Il4ra	T	C	7: 125,575,199		probably benign	Het
Ipo9	A	G	1: 135,404,336		probably benign	Het
Jph3	A	G	8: 121,753,720	Q379R	possibly damaging	Het
Kcnb1	A	G	2: 167,104,969	V653A	probably benign	Het
Kif14	A	G	1: 136,527,393	E1551G	probably damaging	Het
Krt17	G	A	11: 100,260,878	R30*	probably null	Het
Lamb3	A	T	1: 193,321,053	D100V	probably damaging	Het
Lrmp	G	A	6: 145,171,978		probably benign	Het
Map2	A	G	1: 66,416,106	D1385G	probably damaging	Het
Map3k21	A	G	8: 125,944,970	D999G	possibly damaging	Het
Marf1	T	C	16: 14,151,283	I109V	probably benign	Het
Mcam	T	G	9: 44,140,205		probably null	Het
Med18	T	C	4: 132,460,026	H99R	probably damaging	Het
Mettl25	C	T	10: 105,826,525	V195I	probably damaging	Het
Micu2	G	A	14: 57,917,378		probably benign	Het
Mpl	A	G	4: 118,456,863		probably benign	Het
Myh8	A	G	11: 67,301,692	T1466A	probably benign	Het
Myo3b	T	A	2: 70,105,425	C61S	probably benign	Het
Nbn	T	C	4: 15,986,672		probably benign	Het
Ndufa4	C	T	6: 11,906,024	V10I	probably benign	Het
Nf1	A	T	11: 79,418,574	K438M	possibly damaging	Het
Nlrp9c	A	G	7: 26,378,012	S727P	possibly damaging	Het
Nmbr	C	T	10: 14,770,395	Q338*	probably null	Het
Nt5e	A	G	9: 88,367,332	S440G	possibly damaging	Het
Nubp2	T	C	17: 24,884,471	E144G	probably damaging	Het
Olfr1126	T	C	2: 87,458,037	F291L	probably benign	Het
Olfr593	G	A	7: 103,212,726	V289M	possibly damaging	Het
Olfr694	A	G	7: 106,689,255	Y159H	probably benign	Het
Otogl	T	A	10: 107,806,696	N1291I	probably damaging	Het
Pa2g4	T	C	10: 128,563,642	K51R	probably benign	Het
Pah	C	T	10: 87,567,281	P173S	possibly damaging	Het
Pcdhb12	A	G	18: 37,436,727	I309V	probably benign	Het
Pck1	T	G	2: 173,157,068	I373S	possibly damaging	Het
Pga5	A	G	19: 10,669,453	Y305H	probably damaging	Het
Plxnd1	G	T	6: 115,968,793	D906E	probably benign	Het
Ppfia4	T	C	1: 134,329,189	E98G	possibly damaging	Het
Pzp	C	T	6: 128,489,156		probably benign	Het
Rab39	G	A	9: 53,706,030	T29I	probably damaging	Het
Raet1e	C	A	10: 22,180,862	H112Q	possibly damaging	Het
Rars2	T	C	4: 34,645,838	Y252H	probably damaging	Het
Rars2	A	C	4: 34,656,030	Q421P	probably benign	Het
Rasa2	A	T	9: 96,568,407	D479E	probably damaging	Het
Rbl2	A	T	8: 91,106,507	T689S	probably damaging	Het
Rims4	C	T	2: 163,864,025	V230M	probably benign	Het
Scgb1b27	G	A	7: 34,021,952		probably benign	Het
Sec31b	G	A	19: 44,525,469		probably benign	Het
Six3	G	A	17: 85,621,390	G51R	probably damaging	Het
Skp2	A	C	15: 9,127,884		probably null	Het
Slc35f4	A	T	14: 49,304,256	I347N	possibly damaging	Het
Slc4a2	A	T	5: 24,436,274		probably null	Het
Slc52a3	T	C	2: 152,008,156	*461Q	probably null	Het
Slc6a1	G	A	6: 114,302,800	V142I	probably benign	Het
Susd5	A	G	9: 114,096,909	*620W	probably null	Het
Timm21	T	C	18: 84,947,666	N239S	probably damaging	Het
Tmem131	T	C	1: 36,828,050		probably benign	Het
Tmem63c	T	C	12: 87,075,639	W404R	probably damaging	Het
Tnrc6b	A	G	15: 80,887,864	D1118G	probably damaging	Het
Traf2	G	C	2: 25,537,126	A71G	possibly damaging	Het
Trim54	A	G	5: 31,134,119	M195V	probably benign	Het
Trip11	C	T	12: 101,884,728	E741K	probably damaging	Het
Trp73	AGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	4: 154,062,524		probably benign	Het
Trpm5	G	T	7: 143,082,958	T414N	probably damaging	Het
Vps51	G	T	19: 6,071,437	S185*	probably null	Het
Zfp329	G	T	7: 12,810,829	T256K	probably damaging	Het
Zfp729b	A	G	13: 67,591,903	Y748H	probably damaging	Het
Zfp777	T	C	6: 48,024,969	E773G	probably damaging	Het
Zfp866	T	C	8: 69,766,715	Y53C	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
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	intron	probably null
R5414:Myo1e	UTSW	9	70322358	intron	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
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'- TCAGTGACCAGGTTCTTACCTTCCG -3'
(R):5'- AATGCCCTGTAAGCACCTAGCATC -3'

Sequencing Primer
(F):5'- TTACCTTCCGTCACACTAGAAC -3'
(R):5'- CAGCATTTTCGATATACACCAGGG -3'

Posted On

2013-07-11