Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140918824-140942933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140937537 bp (GRCm39)

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]

AlphaFold

Q99K30

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

noncoding transcript
Transcript: ENSMUST00000210158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145108

Predicted Effect

probably benign
Transcript: ENSMUST00000143633

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
AAdacl4fm3	C	T	4: 144,429,766 (GRCm39)	V408I	probably benign	Het
Ablim1	T	A	19: 57,204,285 (GRCm39)	R35S	probably benign	Het
Acacb	A	T	5: 114,367,912 (GRCm39)	I1637F	probably benign	Het
Adamts18	A	T	8: 114,499,709 (GRCm39)	C402S	probably damaging	Het
Adra2b	T	A	2: 127,206,402 (GRCm39)	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,911,973 (GRCm39)	T263I	probably damaging	Het
Antxr1	T	C	6: 87,114,241 (GRCm39)	I509V	probably benign	Het
Bahcc1	A	G	11: 120,176,256 (GRCm39)	E1967G	probably damaging	Het
Brap	T	A	5: 121,817,405 (GRCm39)	Y337*	probably null	Het
Brca2	T	C	5: 150,492,603 (GRCm39)	V3206A	probably benign	Het
Cacna1e	A	T	1: 154,313,069 (GRCm39)	F1486I	probably damaging	Het
Cbx4	A	G	11: 118,973,016 (GRCm39)	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,388,800 (GRCm39)	Q137L	probably benign	Het
Ceacam12	A	G	7: 17,803,299 (GRCm39)	D235G	probably damaging	Het
Celsr1	A	G	15: 85,788,215 (GRCm39)	V2679A	probably benign	Het
Champ1	C	T	8: 13,928,777 (GRCm39)	P312S	probably benign	Het
Chst5	A	G	8: 112,616,828 (GRCm39)	L264S	probably damaging	Het
Cip2a	A	G	16: 48,817,863 (GRCm39)	S78G	probably benign	Het
Colec10	T	A	15: 54,274,185 (GRCm39)	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,008,353 (GRCm39)	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,318,833 (GRCm39)	A438P	possibly damaging	Het
Dlat	A	G	9: 50,555,439 (GRCm39)		probably benign	Het
Dmxl2	A	G	9: 54,294,704 (GRCm39)	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,496,944 (GRCm39)	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,099,811 (GRCm39)	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,459 (GRCm39)	E948G	probably benign	Het
Fam174a	A	T	1: 95,252,884 (GRCm39)	N162I	probably damaging	Het
Fbp2	T	A	13: 62,984,916 (GRCm39)	N335I	probably benign	Het
Foxred2	C	A	15: 77,831,344 (GRCm39)	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,719,283 (GRCm39)	D200E	probably damaging	Het
Gdf15	A	T	8: 71,082,473 (GRCm39)	V211E	possibly damaging	Het
Gm6214	A	G	3: 140,545,107 (GRCm39)		noncoding transcript	Het
Havcr2	A	G	11: 46,347,143 (GRCm39)	Y40C	probably damaging	Het
Htra1	T	G	7: 130,563,321 (GRCm39)	V184G	probably damaging	Het
Hydin	A	T	8: 111,217,308 (GRCm39)	I1399F	probably benign	Het
Igtp	T	C	11: 58,097,474 (GRCm39)	L215P	probably damaging	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Lap3	T	C	5: 45,668,621 (GRCm39)		probably benign	Het
Lgalsl2	A	T	7: 5,362,623 (GRCm39)	T85S	probably benign	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,540 (GRCm39)	V173E	probably damaging	Het
Nat10	A	C	2: 103,552,184 (GRCm39)		probably benign	Het
Ndfip2	T	A	14: 105,532,291 (GRCm39)	V229E	probably damaging	Het
Nefh	G	A	11: 4,891,323 (GRCm39)	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,434,832 (GRCm39)	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,090,841 (GRCm39)	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,490,042 (GRCm39)	S221G	probably benign	Het
Orc4	G	T	2: 48,795,559 (GRCm39)	S389*	probably null	Het
P4hb	A	G	11: 120,462,476 (GRCm39)	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,508,623 (GRCm39)		probably null	Het
Plagl1	T	C	10: 13,003,938 (GRCm39)		probably benign	Het
Poglut1	C	T	16: 38,349,957 (GRCm39)	R272Q	probably damaging	Het
Pramel26	T	A	4: 143,537,038 (GRCm39)	Y431F	probably damaging	Het
Rdh5	T	C	10: 128,750,090 (GRCm39)		probably null	Het
Rogdi	A	T	16: 4,831,258 (GRCm39)	L3*	probably null	Het
Skap1	T	C	11: 96,472,224 (GRCm39)	*166Q	probably null	Het
Slc38a4	A	G	15: 96,897,432 (GRCm39)	I461T	probably benign	Het
Snx31	A	C	15: 36,523,601 (GRCm39)	I360M	probably damaging	Het
Spata22	A	T	11: 73,227,073 (GRCm39)	K96*	probably null	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Trip12	A	C	1: 84,736,884 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,266,709 (GRCm39)		probably null	Het
Upk3a	A	C	15: 84,903,538 (GRCm39)	D79A	probably damaging	Het
Uts2r	A	T	11: 121,052,105 (GRCm39)	Y323F	probably benign	Het
Vmn2r1	A	T	3: 63,993,974 (GRCm39)	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,810,121 (GRCm39)		probably null	Het
Wnt7b	A	G	15: 85,465,575 (GRCm39)		probably benign	Het
Zfp410	T	A	12: 84,384,385 (GRCm39)		probably null	Het

Other mutations in Eps8l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Eps8l2	APN	7	140,937,576 (GRCm39)	missense	probably benign	0.06
IGL01444:Eps8l2	APN	7	140,941,288 (GRCm39)	splice site	probably benign
IGL01467:Eps8l2	APN	7	140,941,514 (GRCm39)	missense	probably damaging	1.00
IGL01803:Eps8l2	APN	7	140,938,143 (GRCm39)	missense	probably benign
IGL02598:Eps8l2	APN	7	140,934,849 (GRCm39)	splice site	probably benign
IGL02823:Eps8l2	APN	7	140,921,988 (GRCm39)	missense	probably damaging	1.00
IGL03061:Eps8l2	APN	7	140,937,148 (GRCm39)	unclassified	probably benign
IGL03112:Eps8l2	APN	7	140,941,649 (GRCm39)	missense	probably damaging	1.00
IGL03251:Eps8l2	APN	7	140,922,875 (GRCm39)	missense	probably damaging	1.00
R0057:Eps8l2	UTSW	7	140,922,884 (GRCm39)	missense	probably benign	0.08
R0133:Eps8l2	UTSW	7	140,942,120 (GRCm39)	missense	unknown
R0361:Eps8l2	UTSW	7	140,936,112 (GRCm39)	missense	probably benign	0.05
R0409:Eps8l2	UTSW	7	140,922,893 (GRCm39)	missense	probably damaging	1.00
R0611:Eps8l2	UTSW	7	140,935,646 (GRCm39)	missense	probably damaging	1.00
R1487:Eps8l2	UTSW	7	140,941,531 (GRCm39)	missense	probably benign
R1679:Eps8l2	UTSW	7	140,940,970 (GRCm39)	missense	probably damaging	1.00
R1914:Eps8l2	UTSW	7	140,941,765 (GRCm39)	missense	probably damaging	1.00
R1915:Eps8l2	UTSW	7	140,941,765 (GRCm39)	missense	probably damaging	1.00
R1918:Eps8l2	UTSW	7	140,941,637 (GRCm39)	missense	probably damaging	0.99
R2098:Eps8l2	UTSW	7	140,935,705 (GRCm39)	splice site	probably null
R2170:Eps8l2	UTSW	7	140,921,984 (GRCm39)	missense	probably benign	0.02
R3429:Eps8l2	UTSW	7	140,937,832 (GRCm39)	critical splice donor site	probably null
R3734:Eps8l2	UTSW	7	140,937,734 (GRCm39)	missense	probably damaging	1.00
R4296:Eps8l2	UTSW	7	140,938,175 (GRCm39)	nonsense	probably null
R4701:Eps8l2	UTSW	7	140,937,173 (GRCm39)	missense	probably damaging	1.00
R4758:Eps8l2	UTSW	7	140,940,286 (GRCm39)	missense	probably damaging	0.98
R5564:Eps8l2	UTSW	7	140,936,534 (GRCm39)	missense	possibly damaging	0.94
R5567:Eps8l2	UTSW	7	140,934,920 (GRCm39)	missense	possibly damaging	0.95
R5570:Eps8l2	UTSW	7	140,934,920 (GRCm39)	missense	possibly damaging	0.95
R5735:Eps8l2	UTSW	7	140,940,290 (GRCm39)	missense	probably damaging	1.00
R5905:Eps8l2	UTSW	7	140,937,746 (GRCm39)	missense	possibly damaging	0.89
R5927:Eps8l2	UTSW	7	140,936,259 (GRCm39)	missense	probably benign
R6028:Eps8l2	UTSW	7	140,937,746 (GRCm39)	missense	possibly damaging	0.89
R6248:Eps8l2	UTSW	7	140,922,015 (GRCm39)	missense	probably damaging	0.99
R6631:Eps8l2	UTSW	7	140,936,115 (GRCm39)	missense	probably damaging	1.00
R7152:Eps8l2	UTSW	7	140,935,678 (GRCm39)	missense	possibly damaging	0.95
R7231:Eps8l2	UTSW	7	140,940,305 (GRCm39)	missense	probably damaging	1.00
R8071:Eps8l2	UTSW	7	140,922,860 (GRCm39)	missense	probably damaging	1.00
R9021:Eps8l2	UTSW	7	140,936,117 (GRCm39)	missense	possibly damaging	0.94
Z1177:Eps8l2	UTSW	7	140,922,008 (GRCm39)	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