Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Eps8l3'

18104

Institutional Source

Beutler Lab

Gene Symbol

Eps8l3

Ensembl Gene

ENSMUSG00000040600

Gene Name

EPS8-like 3

Synonyms

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

107784545-107800216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107786857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 11 (L11S)

Ref Sequence

ENSEMBL: ENSMUSP00000042004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037375] [ENSMUST00000199990]

AlphaFold

Q91WL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037375
AA Change: L11S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042004
Gene: ENSMUSG00000040600
AA Change: L11S

Domain	Start	End	E-Value	Type
Pfam:PTB	28	155	3.7e-40	PFAM
low complexity region	204	214	N/A	INTRINSIC
low complexity region	230	247	N/A	INTRINSIC
low complexity region	273	285	N/A	INTRINSIC
SH3	460	515	5.19e-15	SMART
PDB:2E8M\|A	516	582	3e-7	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196102

Predicted Effect

probably benign
Transcript: ENSMUST00000199990

SMART Domains

Protein: ENSMUSP00000143754
Gene: ENSMUSG00000040600

Domain	Start	End	E-Value	Type
Pfam:PTB	1	88	8.2e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200198

Meta Mutation Damage Score

0.2006

Coding Region Coverage

1x: 90.4%
3x: 88.3%
10x: 83.8%
20x: 78.1%

Validation Efficiency

94% (74/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,273,595 (GRCm39)		noncoding transcript	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Adam34	A	T	8: 44,128,920 (GRCm39)		probably benign	Het
Ankrd60	A	T	2: 173,414,406 (GRCm39)	M1K	probably null	Het
Cald1	T	C	6: 34,692,394 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Cd109	G	A	9: 78,610,389 (GRCm39)	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep135	A	T	5: 76,769,197 (GRCm39)	I616F	probably benign	Het
Cep162	T	A	9: 87,119,878 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Cep85	T	C	4: 133,894,611 (GRCm39)	D65G	probably damaging	Het
Cfdp1	T	C	8: 112,566,986 (GRCm39)		probably benign	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Crxos	A	G	7: 15,632,448 (GRCm39)	T40A	possibly damaging	Het
Dnhd1	A	G	7: 105,317,721 (GRCm39)	D472G	probably damaging	Het
Dpp6	C	A	5: 27,803,817 (GRCm39)	N254K	probably damaging	Het
Flad1	G	A	3: 89,309,552 (GRCm39)	R515*	probably null	Het
Fzd5	T	C	1: 64,774,835 (GRCm39)	T309A	probably benign	Het
Gm19685	T	C	17: 61,075,418 (GRCm39)			Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
H2bc1	A	T	13: 24,117,928 (GRCm39)	I71N	possibly damaging	Het
Incenp	A	G	19: 9,862,823 (GRCm39)		probably benign	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Kat2b	T	C	17: 53,961,571 (GRCm39)	V557A	probably damaging	Het
Lamc1	A	T	1: 153,117,614 (GRCm39)		probably benign	Het
Lgi4	G	A	7: 30,762,996 (GRCm39)	G157D	probably damaging	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Nubpl	T	C	12: 52,357,470 (GRCm39)		probably benign	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Or8c20	C	T	9: 38,260,808 (GRCm39)	S143F	probably benign	Het
Peak1	A	T	9: 56,135,107 (GRCm39)	I78K	probably damaging	Het
Prune2	T	A	19: 16,981,097 (GRCm39)	F85I	probably damaging	Het
Rbm11	G	T	16: 75,395,667 (GRCm39)	D113Y	probably damaging	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Slf2	G	T	19: 44,936,443 (GRCm39)	G696V	probably damaging	Het
Suv39h2	T	C	2: 3,465,953 (GRCm39)	Y134C	probably damaging	Het
Tmem273	C	A	14: 32,528,726 (GRCm39)		probably benign	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Usp6nl	T	A	2: 6,445,701 (GRCm39)	D559E	probably benign	Het
Wdr75	A	G	1: 45,855,777 (GRCm39)	D476G	probably benign	Het
Wrap53	A	C	11: 69,454,256 (GRCm39)	L261V	possibly damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	possibly damaging	Het

Other mutations in Eps8l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01627:Eps8l3	APN	3	107,788,487 (GRCm39)	missense	probably damaging	0.97
IGL01694:Eps8l3	APN	3	107,799,624 (GRCm39)	missense	probably damaging	1.00
IGL02748:Eps8l3	APN	3	107,786,684 (GRCm39)	intron	probably benign
PIT1430001:Eps8l3	UTSW	3	107,792,183 (GRCm39)	missense	probably damaging	1.00
R0060:Eps8l3	UTSW	3	107,786,857 (GRCm39)	missense	probably damaging	0.98
R0517:Eps8l3	UTSW	3	107,790,776 (GRCm39)	missense	probably benign
R0555:Eps8l3	UTSW	3	107,799,661 (GRCm39)	missense	probably benign
R0585:Eps8l3	UTSW	3	107,788,513 (GRCm39)	missense	probably damaging	0.99
R0646:Eps8l3	UTSW	3	107,792,126 (GRCm39)	missense	probably damaging	1.00
R0741:Eps8l3	UTSW	3	107,790,141 (GRCm39)	missense	probably benign
R1682:Eps8l3	UTSW	3	107,798,622 (GRCm39)	missense	possibly damaging	0.82
R1844:Eps8l3	UTSW	3	107,786,902 (GRCm39)	missense	possibly damaging	0.95
R1900:Eps8l3	UTSW	3	107,798,268 (GRCm39)	missense	probably benign	0.16
R1937:Eps8l3	UTSW	3	107,791,708 (GRCm39)	missense	probably benign	0.02
R2010:Eps8l3	UTSW	3	107,786,688 (GRCm39)	start codon destroyed	probably null	1.00
R2973:Eps8l3	UTSW	3	107,798,644 (GRCm39)	missense	probably damaging	1.00
R4369:Eps8l3	UTSW	3	107,798,330 (GRCm39)	missense	possibly damaging	0.95
R4803:Eps8l3	UTSW	3	107,798,325 (GRCm39)	missense	probably damaging	1.00
R4926:Eps8l3	UTSW	3	107,798,004 (GRCm39)	splice site	probably benign
R5420:Eps8l3	UTSW	3	107,791,301 (GRCm39)	nonsense	probably null
R5580:Eps8l3	UTSW	3	107,788,919 (GRCm39)	missense	probably damaging	1.00
R5593:Eps8l3	UTSW	3	107,798,504 (GRCm39)	unclassified	probably benign
R5699:Eps8l3	UTSW	3	107,786,895 (GRCm39)	missense	probably benign	0.06
R5705:Eps8l3	UTSW	3	107,798,580 (GRCm39)	missense	probably benign	0.01
R5972:Eps8l3	UTSW	3	107,791,763 (GRCm39)	splice site	probably null
R6250:Eps8l3	UTSW	3	107,797,781 (GRCm39)	missense	probably benign	0.01
R7097:Eps8l3	UTSW	3	107,791,801 (GRCm39)	splice site	probably null
R7967:Eps8l3	UTSW	3	107,798,604 (GRCm39)	missense	possibly damaging	0.64
R9587:Eps8l3	UTSW	3	107,798,683 (GRCm39)	missense	probably benign	0.28
Z1177:Eps8l3	UTSW	3	107,788,982 (GRCm39)	critical splice donor site	probably null

Posted On

2013-03-25