Mutagenetix > Incidental Mutation

Incidental Mutation 'R4701:Eps8l2'

356037

Institutional Source

Beutler Lab

Gene Symbol

Eps8l2

Ensembl Gene

ENSMUSG00000025504

Gene Name

EPS8-like 2

Synonyms

MMRRC Submission

041949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140918824-140942933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140937173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 338 (I338F)

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: I338F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: I338F

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: ENSMUST00000155729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145108

Predicted Effect

probably benign
Transcript: ENSMUST00000143633

Meta Mutation Damage Score

0.1183

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	C	11: 101,301,986 (GRCm39)	I196V	probably benign	Het
Aass	T	A	6: 23,075,855 (GRCm39)	K761*	probably null	Het
Abca13	A	G	11: 9,242,306 (GRCm39)	T1390A	possibly damaging	Het
Abhd16a	T	C	17: 35,315,582 (GRCm39)		probably null	Het
Acad11	C	T	9: 103,972,764 (GRCm39)	Q486*	probably null	Het
Actl9	T	C	17: 33,652,909 (GRCm39)	L323P	probably benign	Het
Adam12	T	A	7: 133,518,191 (GRCm39)	I650F	possibly damaging	Het
Adgre4	A	T	17: 56,091,971 (GRCm39)	D77V	probably damaging	Het
Ankrd26	A	G	6: 118,483,446 (GRCm39)	F1586S	possibly damaging	Het
Anpep	T	C	7: 79,489,213 (GRCm39)	T320A	probably benign	Het
Arl15	T	A	13: 114,104,261 (GRCm39)	C133S	probably benign	Het
Ascc3	A	G	10: 50,596,760 (GRCm39)	N1230S	possibly damaging	Het
Atf4	T	A	15: 80,141,618 (GRCm39)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,490,137 (GRCm39)	S1044T	probably benign	Het
Atp8b4	A	G	2: 126,256,213 (GRCm39)	F249L	probably damaging	Het
AU021092	G	T	16: 5,030,057 (GRCm39)	N319K	probably benign	Het
Bbs4	A	G	9: 59,230,802 (GRCm39)	V440A	probably benign	Het
Bpifb4	G	T	2: 153,792,305 (GRCm39)	G450C	probably damaging	Het
Cadm1	G	A	9: 47,730,120 (GRCm39)		probably benign	Het
Ccser2	G	A	14: 36,660,654 (GRCm39)	L500F	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Cdkl4	A	T	17: 80,851,081 (GRCm39)	V207E	probably damaging	Het
Cfap251	A	G	5: 123,460,676 (GRCm39)	K1213E	probably benign	Het
Cfap65	T	C	1: 74,958,067 (GRCm39)	D947G	probably damaging	Het
Cntn6	T	C	6: 104,781,321 (GRCm39)	V397A	probably benign	Het
Cpox	T	A	16: 58,498,332 (GRCm39)	Y388*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dda1	T	A	8: 71,926,454 (GRCm39)	Y58N	probably damaging	Het
Dennd4a	C	T	9: 64,804,639 (GRCm39)	T1326I	possibly damaging	Het
Fbxo42	A	G	4: 140,927,120 (GRCm39)	T467A	probably benign	Het
Flt4	T	C	11: 49,517,635 (GRCm39)	F319S	possibly damaging	Het
Fmn1	A	T	2: 113,414,416 (GRCm39)	Y895F	possibly damaging	Het
Gm6887	C	A	7: 42,114,517 (GRCm39)		noncoding transcript	Het
Grid2	A	G	6: 64,642,899 (GRCm39)	D887G	probably benign	Het
Grm6	C	T	11: 50,753,837 (GRCm39)	P714S	probably damaging	Het
Gsto2	A	G	19: 47,873,095 (GRCm39)	I157V	probably benign	Het
Il15ra	A	G	2: 11,723,156 (GRCm39)		probably null	Het
Impg1	A	G	9: 80,221,682 (GRCm39)	F713L	probably benign	Het
Jag1	T	A	2: 136,936,376 (GRCm39)	T373S	probably benign	Het
Kcnh3	T	A	15: 99,139,826 (GRCm39)	L904Q	probably benign	Het
Kctd19	C	A	8: 106,117,061 (GRCm39)	G356V	possibly damaging	Het
Kdm5b	T	A	1: 134,533,750 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 93,006,557 (GRCm39)	I37V	probably damaging	Het
Lama5	G	A	2: 179,833,489 (GRCm39)	R1508C	probably damaging	Het
Lamb1	T	A	12: 31,316,847 (GRCm39)	C65*	probably null	Het
Lingo1	A	G	9: 56,527,542 (GRCm39)	F349S	probably damaging	Het
Loxl4	G	A	19: 42,596,052 (GRCm39)	H147Y	probably benign	Het
Lrrn4cl	T	A	19: 8,829,419 (GRCm39)	N132K	probably damaging	Het
Med17	A	T	9: 15,181,656 (GRCm39)	H31Q	probably damaging	Het
Med23	A	T	10: 24,769,546 (GRCm39)	L476F	probably damaging	Het
Mgst1	A	T	6: 138,127,836 (GRCm39)	D66V	probably damaging	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Muc4	A	T	16: 32,576,220 (GRCm39)		probably benign	Het
Myo18a	C	T	11: 77,708,491 (GRCm39)	T30M	probably damaging	Het
Ncapg2	G	T	12: 116,404,238 (GRCm39)	R903L	probably benign	Het
Nme1	A	G	11: 93,856,734 (GRCm39)	I9T	probably damaging	Het
Nmt2	T	A	2: 3,323,678 (GRCm39)	I357N	probably benign	Het
Nphp4	T	C	4: 152,581,116 (GRCm39)	F100S	probably damaging	Het
Oca2	C	A	7: 55,904,750 (GRCm39)	T72K	probably benign	Het
Or52e4	A	T	7: 104,706,086 (GRCm39)	D211V	probably damaging	Het
Or52e7	A	T	7: 104,684,798 (GRCm39)	D131V	probably damaging	Het
Or52z15	G	A	7: 103,332,269 (GRCm39)	V105M	probably damaging	Het
Or7h8	T	C	9: 20,123,921 (GRCm39)	I92T	probably damaging	Het
Or9s15	C	A	1: 92,525,160 (GRCm39)	D306E	probably benign	Het
Plce1	A	T	19: 38,713,451 (GRCm39)	T1240S	probably benign	Het
Plch1	A	T	3: 63,606,917 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,493,623 (GRCm39)	D331G	probably damaging	Het
Ppp1r3a	T	C	6: 14,718,992 (GRCm39)	T641A	probably benign	Het
Rab32	A	G	10: 10,426,598 (GRCm39)	L116P	probably benign	Het
Recql4	C	T	15: 76,592,785 (GRCm39)	C302Y	probably damaging	Het
Rorc	G	C	3: 94,299,017 (GRCm39)	E391Q	probably null	Het
Saa4	A	T	7: 46,381,051 (GRCm39)	F24I	possibly damaging	Het
Sall1	T	A	8: 89,757,788 (GRCm39)	K772M	probably damaging	Het
Sdk1	T	G	5: 142,170,986 (GRCm39)	L1950V	probably damaging	Het
Sil1	T	C	18: 35,399,949 (GRCm39)	E352G	probably benign	Het
Slc26a3	C	T	12: 31,497,773 (GRCm39)	P59L	probably damaging	Het
Smco2	T	C	6: 146,763,440 (GRCm39)		probably benign	Het
Sppl3	A	G	5: 115,241,372 (GRCm39)		probably null	Het
St6gal2	T	A	17: 55,803,345 (GRCm39)	V360D	probably damaging	Het
Stard9	G	A	2: 120,536,194 (GRCm39)	R345Q	possibly damaging	Het
Susd4	T	A	1: 182,719,626 (GRCm39)	Y414N	probably damaging	Het
Tenm4	T	C	7: 96,544,556 (GRCm39)	Y2191H	probably damaging	Het
Tln2	A	G	9: 67,253,809 (GRCm39)	V754A	probably benign	Het
Tmem132c	T	A	5: 127,641,560 (GRCm39)		probably benign	Het
Tnn	A	T	1: 159,975,338 (GRCm39)	S30T	possibly damaging	Het
Trpd52l3	G	T	19: 29,981,895 (GRCm39)	V217F	probably damaging	Het
Trpm1	G	T	7: 63,893,248 (GRCm39)	L1033F	probably damaging	Het
Tulp2	A	G	7: 45,167,348 (GRCm39)	E182G	probably damaging	Het
Ubr4	A	G	4: 139,198,647 (GRCm39)	K4490R	possibly damaging	Het
Usp17la	A	T	7: 104,509,856 (GRCm39)	R154*	probably null	Het
Vmn2r17	T	G	5: 109,575,849 (GRCm39)	M240R	probably damaging	Het
Vmn2r22	T	A	6: 123,627,428 (GRCm39)	N56I	probably benign	Het
Zdhhc21	A	T	4: 82,738,571 (GRCm39)	I206N	possibly damaging	Het
Zfp148	T	A	16: 33,277,278 (GRCm39)	D122E	probably benign	Het
Zfp804a	A	T	2: 82,086,926 (GRCm39)	S252C	probably damaging	Het
Zgrf1	C	T	3: 127,392,353 (GRCm39)	T1291I	probably benign	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
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
R5893:Eps8l2	UTSW	7	140,937,537 (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'- AACTTTCCACGTTTTGCCAGAG -3'
(R):5'- GAACCCAGACAGAGCTTGAG -3'

Sequencing Primer
(F):5'- TGCCAGAGGGTGTCCTTAC -3'
(R):5'- CCCAGACAGAGCTTGAGTATGC -3'

Posted On

2015-10-21