Mutagenetix > Incidental Mutation

Incidental Mutation 'R5735:Eps8l2'

451653

Institutional Source

Beutler Lab

Gene Symbol

Eps8l2

Ensembl Gene

ENSMUSG00000025504

Gene Name

EPS8-like 2

Synonyms

MMRRC Submission

043349-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5735 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

140918824-140942933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140940290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 507 (T507A)

Ref Sequence

ENSEMBL: ENSMUSP00000026577 (fasta)

Gene Model

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

AlphaFold

Q99K30

Predicted Effect

probably damaging
Transcript: ENSMUST00000026577
AA Change: T507A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: T507A

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: ENSMUST00000146042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155729

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.4%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	C	A	13: 70,984,337 (GRCm39)	D109Y	possibly damaging	Het
Armc8	T	A	9: 99,379,447 (GRCm39)		probably null	Het
Atg4b	G	T	1: 93,701,519 (GRCm39)	G71V	probably damaging	Het
Atp10b	A	T	11: 43,042,601 (GRCm39)	M54L	probably benign	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Bnc2	A	C	4: 84,210,908 (GRCm39)	L487R	probably damaging	Het
Cacng7	T	C	7: 3,387,539 (GRCm39)	S141P	probably benign	Het
Carmil2	G	A	8: 106,424,663 (GRCm39)	G1361D	probably damaging	Het
Cenpf	T	C	1: 189,386,560 (GRCm39)	I1907V	probably benign	Het
Cep192	T	C	18: 68,013,866 (GRCm39)	V2422A	probably benign	Het
Cfap73	T	A	5: 120,770,671 (GRCm39)	Q33L	probably benign	Het
Cip2a	T	A	16: 48,837,856 (GRCm39)		probably null	Het
Cmtm2a	A	T	8: 105,019,418 (GRCm39)	I57N	probably damaging	Het
Col6a2	T	A	10: 76,435,727 (GRCm39)	D836V	probably benign	Het
Dnah2	A	G	11: 69,321,643 (GRCm39)	V3839A	possibly damaging	Het
Enpp1	A	T	10: 24,530,817 (GRCm39)	F546L	possibly damaging	Het
Erg28	C	T	12: 85,862,926 (GRCm39)	E129K	probably benign	Het
Erlec1	A	T	11: 30,900,591 (GRCm39)	N153K	probably benign	Het
Fam234a	T	C	17: 26,432,679 (GRCm39)	E490G	probably damaging	Het
Fat4	C	T	3: 39,003,725 (GRCm39)	R1815C	probably damaging	Het
Galnt1	T	G	18: 24,397,577 (GRCm39)	I226S	possibly damaging	Het
Ifnl2	T	A	7: 28,209,614 (GRCm39)	I58F	possibly damaging	Het
Itih5	A	G	2: 10,245,572 (GRCm39)	N554D	probably benign	Het
Kcna10	A	G	3: 107,102,394 (GRCm39)	I342V	probably benign	Het
Kif6	G	A	17: 50,139,210 (GRCm39)	E561K	probably damaging	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lpar2	G	T	8: 70,276,385 (GRCm39)	R58L	probably damaging	Het
Macrod2	A	G	2: 140,260,809 (GRCm39)	T27A	possibly damaging	Het
Mfsd2a	A	T	4: 122,843,120 (GRCm39)	V387D	probably damaging	Het
Npas3	A	T	12: 54,050,262 (GRCm39)	T231S	probably benign	Het
Or4a70	A	T	2: 89,323,812 (GRCm39)	N281K	probably damaging	Het
Or52n5	A	T	7: 104,587,966 (GRCm39)	T78S	probably benign	Het
Or5aq1b	A	T	2: 86,901,756 (GRCm39)	C241S	probably damaging	Het
Or8h10	A	G	2: 86,809,044 (GRCm39)	V32A	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pde10a	A	T	17: 9,160,024 (GRCm39)	I432F	probably damaging	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Pomt1	G	A	2: 32,133,517 (GRCm39)	G218R	probably damaging	Het
Potefam1	A	T	2: 111,055,837 (GRCm39)	L183*	probably null	Het
Pramel22	A	T	4: 143,381,205 (GRCm39)	C273S	probably damaging	Het
Prdm5	C	T	6: 65,904,974 (GRCm39)	T157I	possibly damaging	Het
Psen2	T	A	1: 180,068,491 (GRCm39)	E54V	probably benign	Het
Ptpn13	C	A	5: 103,702,686 (GRCm39)	H1217Q	probably benign	Het
Ptprt	A	G	2: 161,376,484 (GRCm39)	S1306P	probably damaging	Het
Ptpru	G	T	4: 131,565,401 (GRCm39)	P23T	probably benign	Het
Rtn3	T	C	19: 7,434,057 (GRCm39)	E626G	probably damaging	Het
Scn3a	A	T	2: 65,312,622 (GRCm39)	M1191K	probably damaging	Het
Scn3a	T	A	2: 65,314,803 (GRCm39)	N1086I	probably benign	Het
Sgms2	A	T	3: 131,129,866 (GRCm39)	M174K	probably damaging	Het
Skor1	T	A	9: 63,053,346 (GRCm39)	I180F	probably damaging	Het
Slit2	T	G	5: 48,416,958 (GRCm39)	C1003W	probably damaging	Het
Tbc1d2b	T	A	9: 90,104,462 (GRCm39)	Q560L	possibly damaging	Het
Themis	A	G	10: 28,598,530 (GRCm39)	I51V	probably benign	Het
Tmem203	T	C	2: 25,146,085 (GRCm39)	V135A	probably benign	Het
Tns1	T	C	1: 73,967,138 (GRCm39)	T1212A	probably benign	Het
Trgv5	T	G	13: 19,376,695 (GRCm39)	H47Q	probably benign	Het
Trim2	G	A	3: 84,075,029 (GRCm39)	A697V	probably damaging	Het
Ubxn4	T	C	1: 128,186,677 (GRCm39)	S37P	possibly damaging	Het
Vmn2r17	A	G	5: 109,600,716 (GRCm39)	I671M	possibly damaging	Het
Vmn2r94	G	T	17: 18,464,066 (GRCm39)	S741R	probably damaging	Het
Vwce	C	A	19: 10,624,431 (GRCm39)	D414E	probably benign	Het
Zfp397	T	C	18: 24,093,249 (GRCm39)	S245P	possibly damaging	Het
Zfp747l1	G	T	7: 126,984,579 (GRCm39)	H174Q	possibly damaging	Het
Zfp809	T	A	9: 22,150,227 (GRCm39)	Y241*	probably null	Het
Zfp995	C	T	17: 22,101,010 (GRCm39)	C29Y	probably benign	Het
Zfta	A	G	19: 7,400,161 (GRCm39)	E209G	probably benign	Het
Zfyve26	T	C	12: 79,320,147 (GRCm39)	D1066G	probably damaging	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
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'- GAGTGTCACAGTTTCCACTCC -3'
(R):5'- ATCAGAAGGCAGCTCAGTGG -3'

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

Posted On

2017-01-03