Mutagenetix > Incidental Mutations

Incidental Mutation 'R5893:Eps8l2'

457299

Institutional Source

Beutler Lab

Gene Symbol

Eps8l2

Ensembl Gene

ENSMUSG00000025504

Gene Name

EPS8-like 2

Synonyms

MMRRC Submission

044094-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141338880-141363020 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141357624 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 384 (R384C)

Ref Sequence

ENSEMBL: ENSMUSP00000026577 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000026577
AA Change: R384C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: R384C

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

probably benign
Transcript: ENSMUST00000143633

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	A	19: 57,215,853	R35S	probably benign	Het
Acacb	A	T	5: 114,229,851	I1637F	probably benign	Het
Adamts18	A	T	8: 113,773,077	C402S	probably damaging	Het
Adra2b	T	A	2: 127,364,482	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,778,920	T263I	probably damaging	Het
Antxr1	T	C	6: 87,137,259	I509V	probably benign	Het
Bahcc1	A	G	11: 120,285,430	E1967G	probably damaging	Het
Brap	T	A	5: 121,679,342	Y337*	probably null	Het
Brca2	T	C	5: 150,569,138	V3206A	probably benign	Het
C330027C09Rik	A	G	16: 48,997,500	S78G	probably benign	Het
Cacna1e	A	T	1: 154,437,323	F1486I	probably damaging	Het
Cbx4	A	G	11: 119,082,190	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,151,351	Q137L	probably benign	Het
Ceacam12	A	G	7: 18,069,374	D235G	probably damaging	Het
Celsr1	A	G	15: 85,904,014	V2679A	probably benign	Het
Champ1	C	T	8: 13,878,777	P312S	probably benign	Het
Chst5	A	G	8: 111,890,196	L264S	probably damaging	Het
Colec10	T	A	15: 54,410,789	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,308,928	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,330,389	A438P	possibly damaging	Het
Dlat	A	G	9: 50,644,139		probably benign	Het
Dmxl2	A	G	9: 54,387,420	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,457,785	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,122,447	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,431	E948G	probably benign	Het
Fam174a	A	T	1: 95,325,159	N162I	probably damaging	Het
Fbp2	T	A	13: 62,837,102	N335I	probably benign	Het
Foxred2	C	A	15: 77,947,144	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,898,913	D200E	probably damaging	Het
Gdf15	A	T	8: 70,629,823	V211E	possibly damaging	Het
Gm13084	T	A	4: 143,810,468	Y431F	probably damaging	Het
Gm13178	C	T	4: 144,703,196	V408I	probably benign	Het
Gm5065	A	T	7: 5,359,624	T85S	probably benign	Het
Gm6214	A	G	3: 140,839,346		noncoding transcript	Het
Havcr2	A	G	11: 46,456,316	Y40C	probably damaging	Het
Htra1	T	G	7: 130,961,591	V184G	probably damaging	Het
Hydin	A	T	8: 110,490,676	I1399F	probably benign	Het
Igtp	T	C	11: 58,206,648	L215P	probably damaging	Het
Kctd1	T	C	18: 14,969,688	E812G	possibly damaging	Het
Lap3	T	C	5: 45,511,279		probably benign	Het
Lrp1b	C	A	2: 40,601,587	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,863,244	V173E	probably damaging	Het
Nat10	A	C	2: 103,721,839		probably benign	Het
Ndfip2	T	A	14: 105,294,857	V229E	probably damaging	Het
Nefh	G	A	11: 4,941,323	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,457,852	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,293,953	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,662,473	S221G	probably benign	Het
Orc4	G	T	2: 48,905,547	S389*	probably null	Het
P4hb	A	G	11: 120,571,650	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,617,797		probably null	Het
Plagl1	T	C	10: 13,128,194		probably benign	Het
Poglut1	C	T	16: 38,529,595	R272Q	probably damaging	Het
Rdh5	T	C	10: 128,914,221		probably null	Het
Rogdi	A	T	16: 5,013,394	L3*	probably null	Het
Skap1	T	C	11: 96,581,398	*166Q	probably null	Het
Slc38a4	A	G	15: 96,999,551	I461T	probably benign	Het
Snx31	A	C	15: 36,523,455	I360M	probably damaging	Het
Spata22	A	T	11: 73,336,247	K96*	probably null	Het
Strn3	A	T	12: 51,643,223		probably null	Het
Trip12	A	C	1: 84,759,163		probably benign	Het
Uggt1	A	T	1: 36,227,628		probably null	Het
Upk3a	A	C	15: 85,019,337	D79A	probably damaging	Het
Uts2r	A	T	11: 121,161,279	Y323F	probably benign	Het
Vmn2r1	A	T	3: 64,086,553	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,902,839		probably null	Het
Wnt7b	A	G	15: 85,581,374		probably benign	Het
Zfp410	T	A	12: 84,337,611		probably null	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
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
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'- GTGCCCACCTTAGCATACTCAAG -3'
(R):5'- CCATTCAGAGCTGTGGTCAG -3'

Sequencing Primer
(F):5'- AGCATACTCAAGCTCTGTCTGGG -3'
(R):5'- TCAGCAGCCAGAAGGTCAGTC -3'

Posted On

2017-02-15