Mutagenetix > Incidental Mutation

Incidental Mutation 'R5420:Eps8l3'

427973

Institutional Source

Beutler Lab

Gene Symbol

Eps8l3

Ensembl Gene

ENSMUSG00000040600

Gene Name

EPS8-like 3

Synonyms

MMRRC Submission

042988-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107784545-107800216 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 107791301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 280 (K280*)

Ref Sequence

ENSEMBL: ENSMUSP00000042004 (fasta)

Gene Model

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

AlphaFold

Q91WL0

Predicted Effect

probably null
Transcript: ENSMUST00000037375
AA Change: K280*

SMART Domains

Protein: ENSMUSP00000042004
Gene: ENSMUSG00000040600
AA Change: K280*

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: ENSMUST00000198085

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

0.9651

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

97% (66/68)

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
Actn3	TGCGCAGC	T	19: 4,915,372 (GRCm39)		probably null	Het
Adamts1	A	T	16: 85,596,497 (GRCm39)	C117*	probably null	Het
Adgrg6	A	T	10: 14,302,730 (GRCm39)	Y894*	probably null	Het
Alas1	G	T	9: 106,111,358 (GRCm39)	L603I	probably benign	Het
Arhgap21	G	T	2: 20,885,897 (GRCm39)	R427S	probably damaging	Het
Arhgef25	A	T	10: 127,023,143 (GRCm39)	V88D	probably benign	Het
Bdp1	T	C	13: 100,202,551 (GRCm39)	Q691R	possibly damaging	Het
Bpifa6	T	A	2: 153,831,250 (GRCm39)	I272N	probably damaging	Het
Cacybp	T	C	1: 160,035,914 (GRCm39)		probably benign	Het
Capn3	T	C	2: 120,325,777 (GRCm39)		probably benign	Het
Ccdc47	C	T	11: 106,101,176 (GRCm39)	R162Q	probably benign	Het
Cideb	A	C	14: 55,995,748 (GRCm39)	M1R	probably null	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Crebbp	C	T	16: 3,925,322 (GRCm39)	R760H	probably damaging	Het
Cyp2c23	A	C	19: 44,004,103 (GRCm39)		probably null	Het
Cyp3a13	T	G	5: 137,897,243 (GRCm39)	D357A	probably damaging	Het
Dip2b	C	T	15: 100,103,054 (GRCm39)		probably benign	Het
Ecm2	A	T	13: 49,681,210 (GRCm39)	R448S	possibly damaging	Het
Edil3	T	C	13: 89,279,891 (GRCm39)	Y190H	probably damaging	Het
Eps8l1	T	G	7: 4,473,160 (GRCm39)		probably null	Het
Fam184a	A	G	10: 53,509,753 (GRCm39)	F1137L	probably damaging	Het
Fmn2	A	T	1: 174,526,344 (GRCm39)	R1388*	probably null	Het
Glt8d2	T	C	10: 82,488,516 (GRCm39)	K318R	probably benign	Het
Herc2	A	T	7: 55,853,578 (GRCm39)	K3690I	probably damaging	Het
Ifi206	T	A	1: 173,308,599 (GRCm39)	I466F	possibly damaging	Het
Jade2	T	C	11: 51,709,434 (GRCm39)	K525R	probably benign	Het
Kmt2a	A	T	9: 44,759,633 (GRCm39)	F772I	probably damaging	Het
Lipi	A	G	16: 75,352,757 (GRCm39)	V360A	possibly damaging	Het
Mbl1	C	T	14: 40,879,153 (GRCm39)	S108L	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Mrpl23	A	G	7: 142,089,874 (GRCm39)	T25A	probably damaging	Het
Mto1	T	A	9: 78,360,109 (GRCm39)	M199K	probably benign	Het
Nes	A	T	3: 87,884,309 (GRCm39)	N812I	probably damaging	Het
Nfkbie	T	A	17: 45,871,132 (GRCm39)	D261E	probably benign	Het
Or7e173	T	C	9: 19,938,355 (GRCm39)	Y293C	probably damaging	Het
Pakap	G	A	4: 57,856,062 (GRCm39)	V505I	probably benign	Het
Pakap	T	A	4: 57,856,434 (GRCm39)	Y588N	probably damaging	Het
Papola	A	G	12: 105,772,754 (GRCm39)	I114V	possibly damaging	Het
Pappa	T	G	4: 65,254,017 (GRCm39)		probably null	Het
Pcdh7	T	A	5: 57,877,529 (GRCm39)	D361E	probably damaging	Het
Pick1	A	G	15: 79,133,040 (GRCm39)	T367A	probably benign	Het
Plbd2	A	G	5: 120,632,547 (GRCm39)	Y152H	probably damaging	Het
Ppfia2	A	T	10: 106,671,562 (GRCm39)	E424D	possibly damaging	Het
Rab7b	C	T	1: 131,626,164 (GRCm39)	T64I	probably damaging	Het
Rarb	T	A	14: 16,434,249 (GRCm38)	I310F	possibly damaging	Het
Rdh16f2	C	T	10: 127,712,943 (GRCm39)	P314S	possibly damaging	Het
Rpain	A	T	11: 70,868,516 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,788,518 (GRCm39)	*488Q	probably null	Het
Sash1	G	A	10: 8,621,950 (GRCm39)	T398I	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scrn1	T	A	6: 54,489,048 (GRCm39)	I358F	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Thbs1	G	T	2: 117,943,636 (GRCm39)	D85Y	possibly damaging	Het
Thoc2l	T	A	5: 104,666,225 (GRCm39)	I249N	probably damaging	Het
Trp53	T	C	11: 69,479,146 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r223	A	G	13: 23,433,675 (GRCm39)	R90G	probably benign	Het
Zfp521	A	T	18: 13,977,144 (GRCm39)	Y1090N	probably damaging	Het
Zfp677	T	C	17: 21,618,175 (GRCm39)	C411R	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
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

Predicted Primers

PCR Primer
(F):5'- ACTCCTAAGGTAGACAGGGC -3'
(R):5'- GGCCAGAGCTACTAACCAAG -3'

Sequencing Primer
(F):5'- ACATACGGTGGGATTGTAGC -3'
(R):5'- GGAAGCAGTCAATGTACTC -3'

Posted On

2016-09-01