Mutagenetix > Incidental Mutation

Incidental Mutation 'R6250:Eps8l3'

505900

Institutional Source

Beutler Lab

Gene Symbol

Eps8l3

Ensembl Gene

ENSMUSG00000040600

Gene Name

EPS8-like 3

Synonyms

MMRRC Submission

044367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107784545-107800216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107797781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 403 (I403F)

Ref Sequence

ENSEMBL: ENSMUSP00000042004 (fasta)

Gene Model

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

AlphaFold

Q91WL0

Predicted Effect

probably benign
Transcript: ENSMUST00000037375
AA Change: I403F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000042004
Gene: ENSMUSG00000040600
AA Change: I403F

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: ENSMUST00000138472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163675

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	C	2: 150,681,667 (GRCm39)	Y241C	probably damaging	Het
Ak9	T	C	10: 41,265,030 (GRCm39)	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,887,514 (GRCm39)	F49S	probably damaging	Het
Atp9b	T	C	18: 80,799,736 (GRCm39)	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,523,944 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,908,487 (GRCm39)	L186*	probably null	Het
Cnbd1	T	A	4: 19,098,255 (GRCm39)	Q55L	probably benign	Het
Commd10	A	G	18: 47,096,755 (GRCm39)	E54G	probably damaging	Het
Cplx3	A	G	9: 57,522,907 (GRCm39)	V151A	probably benign	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Disp2	A	T	2: 118,621,247 (GRCm39)	I660F	probably damaging	Het
Eef1a2	A	G	2: 180,792,853 (GRCm39)	F211L	possibly damaging	Het
Epb41	A	T	4: 131,717,184 (GRCm39)	F323L	probably damaging	Het
Ercc5	T	A	1: 44,203,209 (GRCm39)	V282D	probably damaging	Het
Faim	A	T	9: 98,874,176 (GRCm39)	M1L	probably benign	Het
Fbxo24	A	G	5: 137,619,543 (GRCm39)	F111L	probably damaging	Het
Fcgbpl1	G	A	7: 27,850,139 (GRCm39)	G1195D	probably damaging	Het
Glrx	A	T	13: 75,988,229 (GRCm39)	I48F	probably damaging	Het
Gucy2g	A	T	19: 55,205,856 (GRCm39)	L668Q	probably damaging	Het
Hectd4	A	G	5: 121,477,561 (GRCm39)	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,007,503 (GRCm39)	V1367A	probably benign	Het
Hrob	A	G	11: 102,145,888 (GRCm39)	T55A	probably benign	Het
Ipo13	A	G	4: 117,769,351 (GRCm39)	V147A	possibly damaging	Het
Jchain	T	C	5: 88,674,034 (GRCm39)	T37A	probably benign	Het
Kif1b	A	G	4: 149,298,100 (GRCm39)	V1034A	probably benign	Het
Krt25	T	A	11: 99,211,989 (GRCm39)	N216I	probably damaging	Het
Mfsd4b1	T	C	10: 39,879,106 (GRCm39)	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,925,546 (GRCm39)	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,625 (GRCm39)	I406N	probably benign	Het
Or13c7	T	C	4: 43,854,363 (GRCm39)	L18P	possibly damaging	Het
Or2y11	A	T	11: 49,442,711 (GRCm39)	I46F	probably damaging	Het
Or5h23	G	A	16: 58,906,195 (GRCm39)	S217F	probably damaging	Het
Pak5	T	C	2: 136,016,189 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,426 (GRCm39)	R222G	probably benign	Het
Pik3cb	A	C	9: 98,976,651 (GRCm39)	F149V	probably benign	Het
Plscr4	G	A	9: 92,366,881 (GRCm39)	R165Q	possibly damaging	Het
Ppp2r2a	A	T	14: 67,276,403 (GRCm39)	V34E	probably damaging	Het
Prpf8	T	G	11: 75,384,334 (GRCm39)	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,047,232 (GRCm39)	S342P	probably damaging	Het
Pum2	T	C	12: 8,794,755 (GRCm39)		probably null	Het
Ranbp3	T	G	17: 56,984,208 (GRCm39)		probably null	Het
Rassf7	A	G	7: 140,797,156 (GRCm39)	E123G	probably damaging	Het
Rcor1	G	T	12: 111,078,311 (GRCm39)	A469S	probably benign	Het
Rcor3	G	T	1: 191,785,196 (GRCm39)	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,829,920 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,505,658 (GRCm39)	V37A	unknown	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Setbp1	T	C	18: 78,901,217 (GRCm39)	T817A	probably benign	Het
Setd1a	A	G	7: 127,390,471 (GRCm39)	E506G	unknown	Het
Slc30a8	G	A	15: 52,198,545 (GRCm39)	R330Q	probably benign	Het
Snx22	C	A	9: 65,976,923 (GRCm39)	E14*	probably null	Het
Spata31d1a	A	G	13: 59,849,615 (GRCm39)	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,407,770 (GRCm39)	Q11K	unknown	Het
Trpm3	A	G	19: 22,887,418 (GRCm39)	N839S	probably benign	Het
Vps9d1	T	C	8: 123,974,947 (GRCm39)		probably null	Het
Vwa3b	T	C	1: 37,090,966 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,552,893 (GRCm39)	T414A	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	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
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
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'- AACCATTTGCTCCTTTGTGGG -3'
(R):5'- CGGAGGGAAATCGAATCCTG -3'

Sequencing Primer
(F):5'- GTAGCTTTTCATCTGTATACACACG -3'
(R):5'- AGGGAAATCGAATCCTGGTTTG -3'

Posted On

2018-02-28