Mutagenetix > Incidental Mutation

Incidental Mutation 'R5593:Eps8l3'

437614

Institutional Source

Beutler Lab

Gene Symbol

Eps8l3

Ensembl Gene

ENSMUSG00000040600

Gene Name

EPS8-like 3

Synonyms

MMRRC Submission

043145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5593 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107784545-107800216 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 107798504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004134] [ENSMUST00000037375] [ENSMUST00000167523] [ENSMUST00000170058] [ENSMUST00000172247] [ENSMUST00000167387]

AlphaFold

Q91WL0

Predicted Effect

probably benign
Transcript: ENSMUST00000004134

SMART Domains

Protein: ENSMUSP00000004134
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_N	6	85	4e-23	PFAM
Pfam:GST_C	107	195	1.5e-19	PFAM
Pfam:GST_C_3	113	193	2.9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000037375

SMART Domains

Protein: ENSMUSP00000042004
Gene: ENSMUSG00000040600

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: ENSMUST00000131345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145191

Predicted Effect

probably benign
Transcript: ENSMUST00000167523

SMART Domains

Protein: ENSMUSP00000127840
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_N	6	67	6.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170058

SMART Domains

Protein: ENSMUSP00000125913
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_N	6	55	3.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172247

SMART Domains

Protein: ENSMUSP00000129426
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_N	6	85	2.1e-21	PFAM
Pfam:GST_C	107	193	2.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167387

SMART Domains

Protein: ENSMUSP00000127020
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_C	41	129	2.1e-19	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,888,027 (GRCm39)	V120I	unknown	Het
Anpep	T	G	7: 79,491,794 (GRCm39)	K69T	probably benign	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
Copb2	A	G	9: 98,469,091 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,630,848 (GRCm39)	I370T	probably benign	Het
Cpn2	T	C	16: 30,078,898 (GRCm39)	T268A	probably benign	Het
Ctbp2	C	A	7: 132,600,598 (GRCm39)	R99I	possibly damaging	Het
Cul1	G	A	6: 47,462,020 (GRCm39)	W196*	probably null	Het
Cul1	T	C	6: 47,491,925 (GRCm39)	F402L	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dyrk1a	C	A	16: 94,460,442 (GRCm39)	Q33K	possibly damaging	Het
Elapor2	T	A	5: 9,316,350 (GRCm39)	L27Q	probably benign	Het
Epg5	T	A	18: 78,000,689 (GRCm39)	S542T	probably damaging	Het
Evc2	A	G	5: 37,544,321 (GRCm39)	H690R	probably damaging	Het
Fam227a	G	A	15: 79,524,259 (GRCm39)		probably benign	Het
Gadl1	G	T	9: 115,835,718 (GRCm39)	G382V	probably damaging	Het
Gbf1	A	G	19: 46,260,963 (GRCm39)	Q1176R	possibly damaging	Het
Gdf9	A	T	11: 53,324,558 (GRCm39)	H109L	probably damaging	Het
Gsdmd	T	A	15: 75,738,856 (GRCm39)	V411D	probably damaging	Het
Hdc	T	C	2: 126,460,504 (GRCm39)		probably benign	Het
Ifrd2	A	G	9: 107,467,374 (GRCm39)	D82G	probably damaging	Het
Itpkb	T	C	1: 180,161,661 (GRCm39)	S596P	probably damaging	Het
Kcnmb3	A	G	3: 32,546,096 (GRCm39)	V8A	possibly damaging	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mcm9	G	A	10: 53,414,393 (GRCm39)	T229I	probably damaging	Het
Medag	T	A	5: 149,350,415 (GRCm39)	F21L	probably benign	Het
Mefv	A	T	16: 3,533,315 (GRCm39)	C319S	probably benign	Het
Mettl23	T	A	11: 116,734,593 (GRCm39)	V54D	probably damaging	Het
Mul1	A	G	4: 138,166,543 (GRCm39)	D199G	probably damaging	Het
Ncor1	A	T	11: 62,260,130 (GRCm39)	I266N	probably damaging	Het
Nek10	A	T	14: 14,980,544 (GRCm38)	K967*	probably null	Het
Nrcam	A	G	12: 44,606,483 (GRCm39)	T410A	probably damaging	Het
Or1p1	A	G	11: 74,179,618 (GRCm39)	I49V	possibly damaging	Het
Or2b11	T	C	11: 59,461,874 (GRCm39)	R231G	possibly damaging	Het
Or52d13	C	T	7: 103,109,592 (GRCm39)		silent	Het
Or52e4	T	C	7: 104,705,711 (GRCm39)	I86T	probably damaging	Het
Pate2	A	T	9: 35,581,778 (GRCm39)	D24V	possibly damaging	Het
Plcb3	T	C	19: 6,932,117 (GRCm39)	I1124V	possibly damaging	Het
Ptprc	A	T	1: 138,045,458 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,257,378 (GRCm39)		probably benign	Het
Rnf208	G	T	2: 25,133,345 (GRCm39)	W13L	possibly damaging	Het
Rps6kl1	G	T	12: 85,193,675 (GRCm39)	Q139K	possibly damaging	Het
Sdk1	T	A	5: 141,941,879 (GRCm39)	I509N	probably damaging	Het
Sephs1	A	G	2: 4,898,098 (GRCm39)	I170V	probably benign	Het
Slc17a8	C	T	10: 89,442,702 (GRCm39)	D44N	probably benign	Het
Slc23a1	T	A	18: 35,755,349 (GRCm39)	I489F	probably damaging	Het
Slc25a19	A	T	11: 115,507,418 (GRCm39)	Y235N	probably damaging	Het
Slc47a2	A	G	11: 61,233,486 (GRCm39)	V40A	probably benign	Het
Slurp2	C	T	15: 74,614,917 (GRCm39)	V75I	probably benign	Het
Smc1b	A	C	15: 85,005,842 (GRCm39)	M354R	probably benign	Het
Spice1	C	A	16: 44,191,115 (GRCm39)	A323E	possibly damaging	Het
Sptbn2	T	A	19: 4,798,975 (GRCm39)	V2015E	probably damaging	Het
Sptlc2	A	C	12: 87,415,857 (GRCm39)	F57V	probably benign	Het
Srsf1	A	G	11: 87,938,705 (GRCm39)	N14S	possibly damaging	Het
Ssh2	T	A	11: 77,312,192 (GRCm39)	D228E	probably damaging	Het
Synj2	A	G	17: 6,088,390 (GRCm39)	*1480W	probably null	Het
Syt14	A	T	1: 192,613,231 (GRCm39)	M523K	probably damaging	Het
Tff3	A	T	17: 31,348,516 (GRCm39)	V12E	probably benign	Het
Tgm2	C	A	2: 157,969,262 (GRCm39)	C371F	probably damaging	Het
Tmem260	A	C	14: 48,711,501 (GRCm39)	I197L	probably benign	Het
Unc5a	A	G	13: 55,152,747 (GRCm39)	D887G	possibly damaging	Het
Vstm4	G	T	14: 32,641,247 (GRCm39)	A277S	probably benign	Het
Wdtc1	A	T	4: 133,021,702 (GRCm39)		probably null	Het
Zan	A	G	5: 137,466,600 (GRCm39)	F419S	possibly damaging	Het
Zfp317	G	A	9: 19,558,584 (GRCm39)	R266Q	probably damaging	Het
Zfp931	T	A	2: 177,709,595 (GRCm39)	T264S	possibly damaging	Het
Zpld2	T	C	4: 133,920,350 (GRCm39)	K605R	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGCCCTGAAAATGCAAG -3'
(R):5'- AGTACCCTAAAGGATGGTTGTCG -3'

Sequencing Primer
(F):5'- CAAGTCCTGTACGAGTTTGAAGC -3'
(R):5'- CTAAAGGATGGTTGTCGGTGGC -3'

Posted On

2016-10-26