Mutagenetix > Incidental Mutation

Incidental Mutation 'R5567:Eps8l2'

436924

Institutional Source

Beutler Lab

Gene Symbol

Eps8l2

Ensembl Gene

ENSMUSG00000025504

Gene Name

EPS8-like 2

Synonyms

MMRRC Submission

043124-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140918824-140942933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140934920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 76 (R76Q)

Ref Sequence

ENSEMBL: ENSMUSP00000120726 (fasta)

Gene Model

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

AlphaFold

Q99K30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026577
AA Change: R76Q

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: R76Q

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: 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: ENSMUST00000145108

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143633
AA Change: R76Q

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	T	6: 86,932,150 (GRCm39)	Q374*	probably null	Het
Adam19	A	G	11: 46,027,077 (GRCm39)	D570G	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Bltp3b	T	A	10: 89,644,383 (GRCm39)	M29K	probably benign	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cdh9	A	G	15: 16,855,930 (GRCm39)	T657A	probably damaging	Het
Cep104	T	C	4: 154,086,734 (GRCm39)	S794P	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Csmd3	A	T	15: 47,508,864 (GRCm39)	M2907K	possibly damaging	Het
Cspg4	A	C	9: 56,793,932 (GRCm39)	I556L	probably benign	Het
Cwf19l2	T	A	9: 3,456,831 (GRCm39)	D721E	probably damaging	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dna2	G	T	10: 62,802,452 (GRCm39)	A857S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,444,044 (GRCm39)	C619*	probably null	Het
Ftcd	A	G	10: 76,423,967 (GRCm39)	K503E	probably benign	Het
Gbp2b	C	T	3: 142,317,126 (GRCm39)	A494V	possibly damaging	Het
Gfral	C	T	9: 76,115,900 (GRCm39)	A25T	probably benign	Het
Gins2	T	A	8: 121,315,684 (GRCm39)	D24V	possibly damaging	Het
Gm10985	T	C	3: 53,752,683 (GRCm39)	I22T	probably damaging	Het
Golga4	T	A	9: 118,387,251 (GRCm39)	S1458T	probably damaging	Het
Gpatch1	T	C	7: 35,006,640 (GRCm39)	K176R	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Itpr3	C	T	17: 27,322,880 (GRCm39)	T1119M	possibly damaging	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Klk1b1	T	A	7: 43,620,593 (GRCm39)	S228T	probably damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Large1	A	G	8: 73,564,081 (GRCm39)	S562P	possibly damaging	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Lrriq1	G	A	10: 103,006,457 (GRCm39)	P1223S	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Morn2	A	G	17: 80,604,709 (GRCm39)	D128G	probably damaging	Het
Msl2	A	G	9: 100,978,936 (GRCm39)	K437E	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Mxra8	T	C	4: 155,925,465 (GRCm39)	M58T	probably damaging	Het
Myo16	A	G	8: 10,372,676 (GRCm39)	D125G	probably damaging	Het
Myom2	A	G	8: 15,152,546 (GRCm39)	Q631R	probably benign	Het
Nlrp1b	T	A	11: 71,072,229 (GRCm39)	H538L	probably benign	Het
Nme3	T	A	17: 25,115,823 (GRCm39)		probably null	Het
Nop2	T	C	6: 125,110,726 (GRCm39)	S68P	probably benign	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nub1	A	G	5: 24,913,814 (GRCm39)	E565G	possibly damaging	Het
Or1e19	C	T	11: 73,316,272 (GRCm39)	C179Y	probably damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or7e168	A	G	9: 19,719,674 (GRCm39)	D20G	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parl	A	G	16: 20,101,762 (GRCm39)	M90T	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Plb1	A	G	5: 32,521,543 (GRCm39)	T1465A	unknown	Het
Plxna4	T	C	6: 32,134,915 (GRCm39)	N1763D	possibly damaging	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Ralb	C	T	1: 119,411,265 (GRCm39)	V25I	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rnf43	A	G	11: 87,618,271 (GRCm39)	E187G	probably damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scap	A	G	9: 110,206,712 (GRCm39)	S386G	probably damaging	Het
Skint10	T	C	4: 112,573,067 (GRCm39)	Y243C	probably damaging	Het
Stpg2	A	G	3: 139,125,547 (GRCm39)	T447A	probably benign	Het
Tas1r1	G	A	4: 152,122,782 (GRCm39)	A21V	probably damaging	Het
Tas2r122	C	T	6: 132,688,335 (GRCm39)	G186E	probably benign	Het
Tenm4	C	A	7: 96,545,416 (GRCm39)	Y2477*	probably null	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmcc2	A	C	1: 132,285,543 (GRCm39)	S608A	probably benign	Het
Ttc41	T	C	10: 86,596,784 (GRCm39)		probably null	Het
Ttk	T	A	9: 83,744,588 (GRCm39)	N593K	possibly damaging	Het
Tulp1	A	G	17: 28,578,172 (GRCm39)	V289A	possibly damaging	Het
Unc93a2	T	C	17: 7,631,202 (GRCm39)	T456A	probably benign	Het
Usp34	A	C	11: 23,438,336 (GRCm39)	Q278P	probably damaging	Het
Vmn2r78	T	A	7: 86,570,737 (GRCm39)	D418E	probably benign	Het
Vmn2r90	C	T	17: 17,932,336 (GRCm39)	A81V	probably damaging	Het
Xpc	T	A	6: 91,475,117 (GRCm39)	N636I	probably damaging	Het
Zfp563	A	T	17: 33,308,431 (GRCm39)		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
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
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'- ACTAAGGTGTAGCTGTGGCC -3'
(R):5'- TCGGCTCAATTCCCTTACACAG -3'

Sequencing Primer
(F):5'- TAGCTGTGGCCCTTCAGGATC -3'
(R):5'- TGCCACACACATCTGGATG -3'

Posted On

2016-10-24