Mutagenetix > Incidental Mutation

Incidental Mutation 'R0361:Eps8l2'

30109

Institutional Source

Beutler Lab

Gene Symbol

Eps8l2

Ensembl Gene

ENSMUSG00000025504

Gene Name

EPS8-like 2

Synonyms

MMRRC Submission

038567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0361 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

140918824-140942933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 140936112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 222 (N222T)

Ref Sequence

ENSEMBL: ENSMUSP00000026577 (fasta)

Gene Model

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

AlphaFold

Q99K30

Predicted Effect

probably benign
Transcript: ENSMUST00000026577
AA Change: N222T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: N222T

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: ENSMUST00000146042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210158

Predicted Effect

probably benign
Transcript: ENSMUST00000143633

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

100% (1/1)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,207,283 (GRCm39)	T303P	possibly damaging	Het
1700010I14Rik	G	T	17: 9,211,378 (GRCm39)	V176L	probably benign	Het
1700034J05Rik	T	C	6: 146,853,869 (GRCm39)	T262A	possibly damaging	Het
Adgrl3	A	T	5: 81,908,544 (GRCm39)	I1165F	probably damaging	Het
Ankhd1	T	C	18: 36,780,267 (GRCm39)	I1773T	probably damaging	Het
Api5	A	T	2: 94,253,842 (GRCm39)	L287*	probably null	Het
Apol10b	A	T	15: 77,469,586 (GRCm39)	M197K	possibly damaging	Het
Bcl2	G	A	1: 106,640,424 (GRCm39)	R63W	probably damaging	Het
Cacna1h	A	G	17: 25,608,396 (GRCm39)	M731T	probably damaging	Het
Cav1	C	A	6: 17,339,352 (GRCm39)	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,881,820 (GRCm39)	I1118F	probably damaging	Het
Cdk7	A	T	13: 100,848,062 (GRCm39)	Y153*	probably null	Het
Cemip	A	G	7: 83,613,218 (GRCm39)	I660T	probably benign	Het
Cfap65	A	T	1: 74,964,599 (GRCm39)	L518Q	probably damaging	Het
Cgas	T	A	9: 78,340,534 (GRCm39)	K399N	probably damaging	Het
Cngb3	A	G	4: 19,366,467 (GRCm39)	H176R	probably benign	Het
Cstdc4	T	C	16: 36,004,648 (GRCm39)	S7P	probably damaging	Het
Cux1	T	A	5: 136,308,351 (GRCm39)	I1263F	probably damaging	Het
Dnajc13	A	G	9: 104,044,258 (GRCm39)	M1867T	probably benign	Het
Dock2	A	G	11: 34,388,327 (GRCm39)	L202P	probably damaging	Het
Dyrk3	A	G	1: 131,057,769 (GRCm39)	S100P	probably benign	Het
Efr3b	A	T	12: 4,027,923 (GRCm39)	S376T	probably benign	Het
Ermp1	A	T	19: 29,608,806 (GRCm39)	Y158N	probably damaging	Het
Fam13a	A	G	6: 58,964,159 (GRCm39)	V91A	probably benign	Het
Fat3	A	G	9: 15,909,699 (GRCm39)	V2101A	possibly damaging	Het
Fsip2	T	C	2: 82,805,849 (GRCm39)	S723P	possibly damaging	Het
Garem1	G	T	18: 21,432,801 (GRCm39)	C9*	probably null	Het
Gdpd5	A	G	7: 99,107,997 (GRCm39)	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,617,841 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,289 (GRCm39)	T478A	probably benign	Het
H2-M5	A	G	17: 37,298,328 (GRCm39)	I329T	possibly damaging	Het
Ing4	G	A	6: 125,024,857 (GRCm39)	C200Y	probably damaging	Het
Kcnip1	A	T	11: 33,793,177 (GRCm39)	M5K	probably benign	Het
Kdsr	T	C	1: 106,675,517 (GRCm39)	E102G	probably damaging	Het
Krt15	C	T	11: 100,024,007 (GRCm39)	V346M	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc55	A	T	2: 85,026,589 (GRCm39)	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,345,985 (GRCm39)	I439T	probably benign	Het
Map2k6	T	C	11: 110,390,335 (GRCm39)	F290L	probably damaging	Het
Me1	T	A	9: 86,533,055 (GRCm39)	I136F	probably damaging	Het
Mfap2	A	G	4: 140,742,294 (GRCm39)	D98G	probably damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mst1	T	C	9: 107,962,096 (GRCm39)	F696L	probably damaging	Het
Mta1	A	G	12: 113,096,961 (GRCm39)		probably null	Het
Myh15	A	T	16: 48,934,368 (GRCm39)	N645I	probably benign	Het
Myo7b	T	A	18: 32,147,262 (GRCm39)	I94F	probably damaging	Het
Nefh	A	T	11: 4,890,799 (GRCm39)	S607T	probably benign	Het
Noa1	G	A	5: 77,445,020 (GRCm39)	Q600*	probably null	Het
Nr2f2	A	G	7: 70,007,810 (GRCm39)	V71A	possibly damaging	Het
Oas2	A	T	5: 120,876,466 (GRCm39)	F492L	probably damaging	Het
Olfm3	T	A	3: 114,914,622 (GRCm39)	D211E	probably damaging	Het
Or2y17	A	T	11: 49,231,641 (GRCm39)	Y94F	probably benign	Het
Osmr	A	G	15: 6,871,432 (GRCm39)		probably null	Het
Plagl2	A	T	2: 153,073,523 (GRCm39)	D459E	probably benign	Het
Plch2	T	C	4: 155,091,168 (GRCm39)	D148G	possibly damaging	Het
Plxnc1	C	A	10: 94,700,869 (GRCm39)	C605F	probably damaging	Het
Ppm1m	T	C	9: 106,075,325 (GRCm39)	E108G	probably damaging	Het
Prr14l	A	C	5: 32,950,985 (GRCm39)	L1936R	probably damaging	Het
Ralgapa1	A	G	12: 55,723,354 (GRCm39)	I1771T	possibly damaging	Het
Rhobtb2	T	C	14: 70,033,357 (GRCm39)	T538A	probably benign	Het
Rictor	A	G	15: 6,813,588 (GRCm39)	N1025D	possibly damaging	Het
Sec23a	T	G	12: 59,037,804 (GRCm39)	D324A	probably damaging	Het
Srgap1	A	T	10: 121,883,097 (GRCm39)	M1K	probably null	Het
Syne2	T	A	12: 75,965,384 (GRCm39)	F801I	probably benign	Het
Synrg	T	A	11: 83,915,163 (GRCm39)		probably null	Het
Tas2r140	T	G	6: 40,468,232 (GRCm39)	F21V	probably benign	Het
Tmem260	A	T	14: 48,689,504 (GRCm39)	T108S	possibly damaging	Het
Trim2	T	C	3: 84,098,083 (GRCm39)	Y406C	probably damaging	Het
Ttn	T	C	2: 76,673,746 (GRCm39)		probably benign	Het
Vmn1r53	A	T	6: 90,201,064 (GRCm39)	S87T	possibly damaging	Het
Vmn2r115	T	A	17: 23,564,196 (GRCm39)	Y123N	probably benign	Het
Vmn2r28	T	A	7: 5,496,715 (GRCm39)	I46F	probably benign	Het
Zan	T	C	5: 137,395,028 (GRCm39)	T4381A	unknown	Het
Zfp457	A	G	13: 67,440,710 (GRCm39)	F622L	probably damaging	Het
Zfp994	A	T	17: 22,419,091 (GRCm39)	N619K	probably benign	Het
Zfy1	T	C	Y: 726,121 (GRCm39)	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,804,938 (GRCm39)	S441T	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
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
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'- GGTGTAGAAAGTGAGGGATCTTGCC -3'
(R):5'- TCTATTCTCTGAGCCAGCACAGCC -3'

Sequencing Primer
(F):5'- GCACAGTAGCCTGGGATG -3'
(R):5'- GCTGCTGAAGGGTTCTCCATTA -3'

Posted On

2013-04-24