Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02823:Eps8l2'

361079

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02823

Quality Score

Status

Chromosome

Chromosomal Location

141338880-141363020 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141342075 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 22 (D22V)

Ref Sequence

ENSEMBL: ENSMUSP00000120726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026577] [ENSMUST00000026578] [ENSMUST00000143633] [ENSMUST00000145184]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026577
AA Change: D22V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: D22V

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

probably benign
Transcript: ENSMUST00000026578

SMART Domains

Protein: ENSMUSP00000026578
Gene: ENSMUSG00000025505

Domain	Start	End	E-Value	Type
Pfam:Transmemb_17	1	108	2.4e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140025

Predicted Effect

probably damaging
Transcript: ENSMUST00000143633
AA Change: D22V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145108

Predicted Effect

probably benign
Transcript: ENSMUST00000145184

SMART Domains

Protein: ENSMUSP00000117633
Gene: ENSMUSG00000025505

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
Pfam:Transmemb_17	25	78	5.4e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210251

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,261,955	S194P	probably damaging	Het
3110043O21Rik	A	T	4: 35,213,031	C215S	probably damaging	Het
Abca7	T	A	10: 80,008,822	D1488E	probably damaging	Het
Abhd18	A	G	3: 40,933,518		probably benign	Het
Atp6ap1l	A	G	13: 90,899,525	V56A	probably benign	Het
Atrip	A	G	9: 109,061,178	Y631H	probably damaging	Het
Dst	A	T	1: 34,192,083	H3097L	possibly damaging	Het
Ear1	G	T	14: 43,819,045	S122*	probably null	Het
Eif2a	G	T	3: 58,548,671	A364S	probably benign	Het
Fam84b	T	C	15: 60,823,123	D258G	probably damaging	Het
Fndc7	A	G	3: 108,869,171	F432S	probably damaging	Het
Gemin5	T	C	11: 58,167,705		probably benign	Het
Grxcr2	T	C	18: 41,991,981	K121E	probably damaging	Het
Gucy1a2	T	C	9: 3,894,656	I713T	possibly damaging	Het
Hs3st1	A	G	5: 39,614,757	L181P	probably damaging	Het
Ksr1	C	A	11: 79,021,403	V627L	probably benign	Het
Lama2	T	C	10: 27,001,145	N2682D	probably damaging	Het
Map3k19	G	T	1: 127,822,264	H1117N	probably benign	Het
Mdc1	C	T	17: 35,852,923	A1121V	probably damaging	Het
Nlrp1a	C	T	11: 71,092,423	S1239N	probably damaging	Het
Olfr322	T	C	11: 58,665,967	M136T	possibly damaging	Het
Prkra	G	T	2: 76,630,424	A310E	probably damaging	Het
Prl2c1	T	C	13: 27,856,433		probably benign	Het
Prl7a2	T	C	13: 27,662,751	Y93C	possibly damaging	Het
Prob1	A	T	18: 35,652,747	V818E	possibly damaging	Het
Rbbp8	A	G	18: 11,732,213	S720G	possibly damaging	Het
Rexo4	T	C	2: 26,962,477	T149A	probably benign	Het
Slc39a2	T	A	14: 51,895,412	Y271N	probably damaging	Het
Sprr2d	T	A	3: 92,340,427	C58*	probably null	Het
Srebf2	G	A	15: 82,199,774	G965D	possibly damaging	Het
Tcof1	T	C	18: 60,816,048	E1265G	probably benign	Het
Terf2	T	C	8: 107,072,625	N389S	possibly damaging	Het
Vsig10l	T	C	7: 43,466,464	S410P	probably damaging	Het
Vwa3b	A	T	1: 37,186,904		probably benign	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
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
R4758:Eps8l2	UTSW	7	141360373	missense	probably damaging	0.98
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

Posted On

2015-12-18