Mutagenetix > Incidental Mutations

Incidental Mutation 'R2256:Myo1e'

243392

Institutional Source

Beutler Lab

Gene Symbol

Myo1e

Ensembl Gene

ENSMUSG00000032220

Gene Name

myosin IE

Synonyms

2310020N23Rik, 9130023P14Rik

MMRRC Submission

040256-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70207350-70399766 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 70378373 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034745 (fasta)

Gene Model

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (97/99)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
4931409K22Rik	C	T	5: 24,552,040		probably benign	Het
6720489N17Rik	A	T	13: 62,607,396	I36N	probably benign	Het
Abcb4	T	C	5: 8,958,431	S1200P	probably damaging	Het
Acadsb	A	G	7: 131,443,653	Y438C	probably benign	Het
Acp7	A	C	7: 28,614,413	W399G	probably damaging	Het
Actr3b	A	G	5: 25,822,405	T113A	possibly damaging	Het
Adgrv1	T	C	13: 81,506,140	D2204G	probably benign	Het
Ago1	A	G	4: 126,441,911	V669A	possibly damaging	Het
Ang5	T	A	14: 43,962,521	L14Q	probably null	Het
Aoc1	T	C	6: 48,906,440	Y417H	possibly damaging	Het
Arhgap32	T	C	9: 32,247,497	I186T	probably damaging	Het
Atf2	A	T	2: 73,845,511		probably null	Het
Atg4a	A	G	X: 140,990,235	I91V	probably benign	Het
Atp7b	T	G	8: 21,998,266	T1102P	probably damaging	Het
Bend5	A	C	4: 111,431,010		probably benign	Het
Camkk2	T	C	5: 122,746,335	D341G	probably damaging	Het
Cast	T	A	13: 74,739,905	I208L	probably damaging	Het
Ccdc141	A	T	2: 77,132,262	W113R	probably damaging	Het
Cdk14	T	A	5: 4,888,924	M433L	probably benign	Het
Cel	A	G	2: 28,561,192	F51S	probably damaging	Het
Cenpc1	A	G	5: 86,016,203	L853S	probably damaging	Het
Cep162	C	A	9: 87,206,914	D972Y	probably damaging	Het
Clasrp	A	G	7: 19,586,585		probably benign	Het
Cntnap5c	T	A	17: 58,330,315	N1062K	probably benign	Het
Col3a1	A	G	1: 45,321,632	D74G	unknown	Het
Copb1	T	A	7: 114,253,875	D29V	possibly damaging	Het
Cox6a1	C	T	5: 115,348,848	E35K	possibly damaging	Het
Cyp2b9	G	A	7: 26,173,605		probably null	Het
Ddx46	A	G	13: 55,647,708	K177E	possibly damaging	Het
Dmbt1	T	C	7: 131,090,494	F823L	probably benign	Het
Drc7	A	T	8: 95,075,009	H666L	probably benign	Het
Fam228a	T	C	12: 4,737,775		probably benign	Het
Fam71e2	T	A	7: 4,771,021	M31L	probably benign	Het
Fam83e	A	T	7: 45,728,769	K406*	probably null	Het
Fam83e	A	T	7: 45,728,770	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 21,963,517	L296Q	possibly damaging	Het
Fat1	A	G	8: 44,950,371	Y53C	probably damaging	Het
Fhdc1	T	C	3: 84,446,046	E624G	probably benign	Het
Fryl	T	A	5: 73,072,844	N1657Y	possibly damaging	Het
Fsip2	T	A	2: 82,962,751	D417E	probably benign	Het
Greb1l	A	G	18: 10,503,307	M453V	possibly damaging	Het
Gtf2b	A	G	3: 142,781,424	D207G	probably benign	Het
Has3	C	A	8: 106,874,256	L117I	probably damaging	Het
Jmjd1c	T	A	10: 67,225,294	I1142N	probably damaging	Het
Lipt2	C	T	7: 100,159,394	T38I	probably benign	Het
Magea2	A	T	X: 155,027,859	L243Q	probably damaging	Het
Mast4	A	T	13: 102,735,751	C2178S	possibly damaging	Het
Mctp2	A	G	7: 72,185,820	L543P	probably damaging	Het
Mphosph9	C	T	5: 124,283,659	V740I	probably benign	Het
Mut	A	T	17: 40,956,319	I595F	probably benign	Het
Nlrc4	A	G	17: 74,445,630	I586T	probably damaging	Het
Nom1	T	A	5: 29,437,752	V417D	probably damaging	Het
Nphs1	A	T	7: 30,467,992	I782F	possibly damaging	Het
Numa1	A	G	7: 102,000,791	E1243G	probably damaging	Het
Olfr1000	T	A	2: 85,608,463	Y149F	possibly damaging	Het
Olfr1254	T	C	2: 89,788,470	H294R	probably benign	Het
Olfr1290	T	C	2: 111,489,978	Y60C	probably damaging	Het
Olfr474	A	T	7: 107,955,037	Y132F	probably damaging	Het
Olfr676	A	G	7: 105,035,819	Y207C	probably benign	Het
Orai2	C	T	5: 136,161,600	V52I	probably damaging	Het
Osbpl5	A	G	7: 143,709,094	C186R	probably damaging	Het
Osbpl6	A	G	2: 76,584,474	E403G	probably damaging	Het
Padi4	G	A	4: 140,759,940	T217I	possibly damaging	Het
Parm1	C	T	5: 91,594,121	T116I	possibly damaging	Het
Pde4dip	T	A	3: 97,718,184	Q1366L	probably damaging	Het
Phgdh	T	C	3: 98,328,291	K108E	probably benign	Het
Pold1	T	C	7: 44,533,799		probably null	Het
Ppp1r37	G	T	7: 19,562,018		probably benign	Het
Sdk2	T	C	11: 113,830,794	N1332S	probably benign	Het
Sema6d	A	G	2: 124,664,150	D626G	probably damaging	Het
Skiv2l2	A	T	13: 112,876,512	M890K	probably damaging	Het
Slc18b1	A	G	10: 23,810,922	N212S	probably benign	Het
Slc2a9	T	C	5: 38,453,199	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,091,016	M555K	probably benign	Het
Sntg2	C	T	12: 30,236,688	W302*	probably null	Het
Spata22	T	A	11: 73,340,475	M185K	possibly damaging	Het
Stk35	T	A	2: 129,810,507	Y309*	probably null	Het
Taar8c	A	G	10: 24,101,071	V281A	probably benign	Het
Thoc1	C	A	18: 9,993,466	D608E	possibly damaging	Het
Tmem121b	A	T	6: 120,492,069	Y562*	probably null	Het
Tmem121b	A	G	6: 120,492,071	Y562H	probably damaging	Het
Tmtc4	A	T	14: 122,941,408	I449N	probably benign	Het
Tmub1	C	A	5: 24,446,924	G14V	possibly damaging	Het
Tmub1	G	A	5: 24,447,177		probably benign	Het
Tshz2	A	G	2: 169,886,477	T529A	probably damaging	Het
Ugdh	A	T	5: 65,417,115		probably benign	Het
Usp25	A	G	16: 77,113,794	K913E	probably benign	Het
Vgf	A	G	5: 137,031,547		probably benign	Het
Vmn2r19	T	A	6: 123,329,886	F451Y	probably benign	Het
Vmn2r59	A	T	7: 42,012,245	C715*	probably null	Het
Vps9d1	C	A	8: 123,245,121	A582S	probably benign	Het
Xbp1	T	G	11: 5,524,841	H247Q	probably damaging	Het
Zfp319	A	T	8: 95,328,501	M358K	possibly damaging	Het
Zfp438	A	T	18: 5,213,508	N483K	probably damaging	Het
Zfp518b	T	C	5: 38,671,636	N1009D	possibly damaging	Het
Zfp644	A	T	5: 106,635,845	H945Q	probably damaging	Het
Zgrf1	T	A	3: 127,561,997	S291T	probably benign	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
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'- ATTTCAATCAATGTGCTCGCAG -3'
(R):5'- ACAGCTCAGACATGAATGCCG -3'

Sequencing Primer
(F):5'- CTCGCAGCCTTGAACTGAAGTTG -3'
(R):5'- ATGCCGGGTATATCATGCAC -3'

Posted On

2014-10-16