Mutagenetix > Incidental Mutations

Incidental Mutation 'R4758:Eps8l2'

358327

Institutional Source

Beutler Lab

Gene Symbol

Eps8l2

Ensembl Gene

ENSMUSG00000025504

Gene Name

EPS8-like 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141338880-141363020 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141360373 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 505 (D505E)

Ref Sequence

ENSEMBL: ENSMUSP00000026577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026577]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026577
AA Change: D505E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: D505E

Domain	Start	End	E-Value	Type
Pfam:PTB	51	181	6.6e-50	PFAM
Pfam:PID	52	175	5.9e-9	PFAM
low complexity region	196	209	N/A	INTRINSIC
low complexity region	284	299	N/A	INTRINSIC
SH3	498	553	2.11e-15	SMART
PDB:1WWU\|A	614	700	2e-46	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210158

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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 EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null mutation display late onset progressive hearing loss and gradual deterioration of cochlear hair cell stereocilliary bundles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,073,605	Y119N	probably damaging	Het
Actn2	T	A	13: 12,288,586	K443*	probably null	Het
Adgrb2	A	G	4: 130,009,350	N581S	probably damaging	Het
Alb	A	T	5: 90,468,593	H319L	probably benign	Het
Aox2	A	G	1: 58,332,582	I802V	probably benign	Het
Arhgap45	G	A	10: 80,030,293	G995E	probably benign	Het
BC005561	A	C	5: 104,520,399	E929A	possibly damaging	Het
Capn12	A	C	7: 28,892,723	T689P	possibly damaging	Het
Cars	T	C	7: 143,571,567	S312G	probably benign	Het
Cast	T	A	13: 74,739,880	D216V	possibly damaging	Het
Ccdc13	C	T	9: 121,833,734	E72K	possibly damaging	Het
Cd300lg	G	T	11: 102,053,591		probably null	Het
Cep41	A	G	6: 30,671,369		probably benign	Het
Chrna3	A	G	9: 55,022,276	Y93H	probably damaging	Het
Cic	A	G	7: 25,292,211	R1309G	possibly damaging	Het
Clcnkb	A	G	4: 141,407,849	V526A	probably benign	Het
Clec4a1	G	T	6: 122,933,866	V227F	probably damaging	Het
Cpa5	C	A	6: 30,615,160	H99N	possibly damaging	Het
Crem	C	A	18: 3,327,527	C4F	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Decr2	C	A	17: 26,088,940	E46D	probably damaging	Het
Dlg1	G	A	16: 31,791,752	V284I	possibly damaging	Het
Dnah3	T	C	7: 120,079,406	E360G	probably benign	Het
Dnajc1	A	T	2: 18,308,946	Y121*	probably null	Het
Dnajc13	A	G	9: 104,172,574	F1783L	probably damaging	Het
Eral1	G	A	11: 78,075,599	T251I	probably benign	Het
Eya3	T	C	4: 132,694,885		probably null	Het
Fam120a	G	A	13: 48,880,857	T1093I	probably benign	Het
Fbn2	C	T	18: 58,026,386	A2424T	probably benign	Het
Git2	G	A	5: 114,730,351	T256M	probably damaging	Het
Gm884	A	G	11: 103,614,464	V2226A	possibly damaging	Het
Gm9805	A	T	17: 22,689,871	Y34F	probably benign	Het
Itgb7	T	G	15: 102,216,207	T792P	probably benign	Het
Jakmip1	T	A	5: 37,128,622	I665N	probably damaging	Het
Kcnt2	T	C	1: 140,518,897	Y677H	probably damaging	Het
Klhdc4	G	A	8: 121,798,044	P382S	probably benign	Het
Knl1	TCC	TC	2: 119,071,732		probably null	Het
Lamb3	T	A	1: 193,339,961	M1039K	possibly damaging	Het
Lipm	A	T	19: 34,101,170	M1L	possibly damaging	Het
Magi3	T	A	3: 104,015,321	D1360V	probably benign	Het
Mier2	C	A	10: 79,550,348	C23F	probably damaging	Het
Myo1h	C	T	5: 114,349,582	R616C	probably damaging	Het
Nars2	A	G	7: 96,973,528	D187G	probably damaging	Het
Nbea	T	C	3: 56,005,403	M988V	probably benign	Het
Nlrc5	C	A	8: 94,512,328	Q1465K	possibly damaging	Het
Nlrp4e	T	C	7: 23,320,618	F177L	probably benign	Het
Oas1a	A	G	5: 120,907,338	F47L	probably damaging	Het
Oas1f	A	G	5: 120,847,480	E30G	probably damaging	Het
Obscn	A	T	11: 59,003,363	M6689K	unknown	Het
Obscn	A	T	11: 59,135,917	D153E	probably damaging	Het
Olfr605	A	C	7: 103,442,869	C85G	probably damaging	Het
Osmr	A	T	15: 6,852,555	I36K	probably benign	Het
Pcf11	A	T	7: 92,661,175	F535Y	probably damaging	Het
Pde2a	C	T	7: 101,511,499	R886C	probably damaging	Het
Pik3ca	T	A	3: 32,437,978	C242S	probably benign	Het
Pikfyve	T	A	1: 65,272,515	D1925E	possibly damaging	Het
Plekhm2	A	T	4: 141,642,005	Y123N	possibly damaging	Het
Pomt2	A	T	12: 87,122,878	V406D	probably damaging	Het
Ppfia2	G	C	10: 106,762,117	L180F	probably damaging	Het
Prdm10	A	T	9: 31,362,412	T985S	probably benign	Het
Proc	T	A	18: 32,123,810	Y268F	probably damaging	Het
Prrc1	C	T	18: 57,384,248	T365M	probably damaging	Het
Rasa1	A	T	13: 85,234,448	D446E	probably benign	Het
Ribc2	T	A	15: 85,141,666	L281Q	probably damaging	Het
Runx1t1	A	G	4: 13,865,907	D385G	probably damaging	Het
Sdk2	A	G	11: 113,827,054	S1495P	possibly damaging	Het
Slc15a3	G	T	19: 10,854,362		probably null	Het
Slc43a3	A	G	2: 84,944,525	N149S	probably damaging	Het
Spata5	T	A	3: 37,433,236	S416T	probably benign	Het
Specc1l	A	G	10: 75,246,348	Q543R	probably damaging	Het
Spef1	T	C	2: 131,172,741		probably null	Het
Spns1	A	T	7: 126,370,794	F478Y	probably damaging	Het
Srebf2	T	C	15: 82,196,169	V821A	probably benign	Het
Stac3	A	G	10: 127,503,345	M108V	possibly damaging	Het
Stradb	A	G	1: 58,988,571	T87A	probably benign	Het
Stxbp5l	A	T	16: 37,134,230	M906K	probably benign	Het
Tex14	T	C	11: 87,514,485	V741A	probably benign	Het
Tpo	C	A	12: 30,075,871	G830C	probably damaging	Het
Unc79	T	A	12: 103,161,821	C2308*	probably null	Het
Vmn1r205	T	C	13: 22,592,846	T29A	possibly damaging	Het
Vmn1r69	G	A	7: 10,580,546	T7I	probably benign	Het
Vmn2r27	T	G	6: 124,231,637	T50P	possibly damaging	Het
Wdr83	A	G	8: 85,075,238	Y302H	probably benign	Het
Xirp2	A	T	2: 67,516,535	E3040V	probably damaging	Het
Zfp629	C	A	7: 127,610,586	G684W	probably damaging	Het

Other mutations in Eps8l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Eps8l2	APN	7	141357663	missense	probably benign	0.06
IGL01444:Eps8l2	APN	7	141361375	splice site	probably benign
IGL01467:Eps8l2	APN	7	141361601	missense	probably damaging	1.00
IGL01803:Eps8l2	APN	7	141358230	missense	probably benign
IGL02598:Eps8l2	APN	7	141354936	splice site	probably benign
IGL02823:Eps8l2	APN	7	141342075	missense	probably damaging	1.00
IGL03061:Eps8l2	APN	7	141357235	unclassified	probably benign
IGL03112:Eps8l2	APN	7	141361736	missense	probably damaging	1.00
IGL03251:Eps8l2	APN	7	141342962	missense	probably damaging	1.00
R0057:Eps8l2	UTSW	7	141342971	missense	probably benign	0.08
R0133:Eps8l2	UTSW	7	141362207	missense	unknown
R0361:Eps8l2	UTSW	7	141356199	missense	probably benign	0.05
R0409:Eps8l2	UTSW	7	141342980	missense	probably damaging	1.00
R0611:Eps8l2	UTSW	7	141355733	missense	probably damaging	1.00
R1487:Eps8l2	UTSW	7	141361618	missense	probably benign
R1679:Eps8l2	UTSW	7	141361057	missense	probably damaging	1.00
R1914:Eps8l2	UTSW	7	141361852	missense	probably damaging	1.00
R1915:Eps8l2	UTSW	7	141361852	missense	probably damaging	1.00
R1918:Eps8l2	UTSW	7	141361724	missense	probably damaging	0.99
R2098:Eps8l2	UTSW	7	141355792	splice site	probably null
R2170:Eps8l2	UTSW	7	141342071	missense	probably benign	0.02
R3429:Eps8l2	UTSW	7	141357919	critical splice donor site	probably null
R3734:Eps8l2	UTSW	7	141357821	missense	probably damaging	1.00
R4296:Eps8l2	UTSW	7	141358262	nonsense	probably null
R4701:Eps8l2	UTSW	7	141357260	missense	probably damaging	1.00
R5564:Eps8l2	UTSW	7	141356621	missense	possibly damaging	0.94
R5567:Eps8l2	UTSW	7	141355007	missense	possibly damaging	0.95
R5570:Eps8l2	UTSW	7	141355007	missense	possibly damaging	0.95
R5735:Eps8l2	UTSW	7	141360377	missense	probably damaging	1.00
R5893:Eps8l2	UTSW	7	141357624	missense	probably damaging	1.00
R5905:Eps8l2	UTSW	7	141357833	missense	possibly damaging	0.89
R5927:Eps8l2	UTSW	7	141356346	missense	probably benign
R6028:Eps8l2	UTSW	7	141357833	missense	possibly damaging	0.89
R6248:Eps8l2	UTSW	7	141342102	missense	probably damaging	0.99
R6631:Eps8l2	UTSW	7	141356202	missense	probably damaging	1.00
R7152:Eps8l2	UTSW	7	141355765	missense	possibly damaging	0.95
R7231:Eps8l2	UTSW	7	141360392	missense	probably damaging	1.00
R8071:Eps8l2	UTSW	7	141342947	missense	probably damaging	1.00
Z1177:Eps8l2	UTSW	7	141342095	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGTGTCACAGTTTCCACTCC -3'
(R):5'- CATCAGAAGGCAGCTCAGTG -3'

Sequencing Primer
(F):5'- TTTCCACTCCCGGCTGAGAAG -3'
(R):5'- AAGGCAGCTCAGTGGCTCAG -3'

Posted On

2015-11-11