Mutagenetix > Incidental Mutations

Incidental Mutation 'R4684:Eps8l1'

353515

Institutional Source

Beutler Lab

Gene Symbol

Eps8l1

Ensembl Gene

ENSMUSG00000006154

Gene Name

EPS8-like 1

Synonyms

4632407K17Rik, 2310051G19Rik, DRC3, EPS8R1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4460674-4480487 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4473945 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 471 (P471Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086372] [ENSMUST00000163137] [ENSMUST00000163804] [ENSMUST00000163893] [ENSMUST00000164987] [ENSMUST00000167298] [ENSMUST00000167810] [ENSMUST00000169820] [ENSMUST00000171445] [ENSMUST00000170635]

AlphaFold

Q8R5F8

Predicted Effect

probably benign
Transcript: ENSMUST00000086372
AA Change: P410Q

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: P410Q

Domain	Start	End	E-Value	Type
Pfam:PTB	35	165	2.1e-46	PFAM
low complexity region	282	304	N/A	INTRINSIC
SH3	480	535	2.62e-11	SMART
low complexity region	554	564	N/A	INTRINSIC
PDB:1WWU\|A	632	698	1e-19	PDB
low complexity region	701	715	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146199

Predicted Effect

probably benign
Transcript: ENSMUST00000163137

SMART Domains

Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
Pfam:PTB	35	100	1.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163804

Predicted Effect

probably benign
Transcript: ENSMUST00000163893
AA Change: P410Q

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: P410Q

Domain	Start	End	E-Value	Type
Pfam:PTB	35	165	2.1e-46	PFAM
low complexity region	282	304	N/A	INTRINSIC
SH3	480	535	2.62e-11	SMART
low complexity region	554	564	N/A	INTRINSIC
PDB:1WWU\|A	632	698	1e-19	PDB
low complexity region	701	715	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164987

SMART Domains

Protein: ENSMUSP00000130665
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
low complexity region	15	25	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167068

Predicted Effect

probably benign
Transcript: ENSMUST00000167298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167599

Predicted Effect

probably benign
Transcript: ENSMUST00000167810

SMART Domains

Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
Pfam:PTB	35	152	5e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168924

Predicted Effect

probably benign
Transcript: ENSMUST00000169820

SMART Domains

Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
Pfam:PTB	35	93	1.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170423

Predicted Effect

probably damaging
Transcript: ENSMUST00000171445
AA Change: P471Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: P471Q

Domain	Start	End	E-Value	Type
Pfam:PTB	96	226	5.8e-46	PFAM
low complexity region	343	365	N/A	INTRINSIC
SH3	541	596	2.62e-11	SMART
low complexity region	615	625	N/A	INTRINSIC
PDB:1WWU\|A	693	759	1e-19	PDB
low complexity region	762	776	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171665

Predicted Effect

probably benign
Transcript: ENSMUST00000170635

SMART Domains

Protein: ENSMUSP00000127999
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
PDB:2CY5\|A	26	52	3e-13	PDB

Coding Region Coverage

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

Validation Efficiency

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. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 46,772,946	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,471,871	I629T	unknown	Het
4933402N03Rik	T	C	7: 131,138,684	R268G	probably damaging	Het
Abca13	A	T	11: 9,434,193	R3882*	probably null	Het
Adamts3	T	G	5: 89,703,007	T558P	probably damaging	Het
Ano2	A	G	6: 125,790,341	N214S	probably benign	Het
Arhgef4	A	T	1: 34,811,785		probably null	Het
Boc	C	T	16: 44,500,380	A306T	probably benign	Het
Capn10	T	C	1: 92,943,781	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,189,256		probably benign	Het
Cobll1	G	T	2: 65,099,028	S688R	possibly damaging	Het
Cpxm2	G	T	7: 132,049,038	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,699,335	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,455,003	Y118N	probably damaging	Het
Dgki	A	T	6: 37,299,846		probably benign	Het
Disp2	A	G	2: 118,792,756	N1323S	probably damaging	Het
Dock1	T	A	7: 134,724,409	Y42*	probably null	Het
Fam20a	A	C	11: 109,721,687	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,022,184	I151K	probably damaging	Het
Gga1	C	A	15: 78,885,309	P161T	probably damaging	Het
Gm8909	A	T	17: 36,165,858	H241Q	possibly damaging	Het
Gm9923	T	A	10: 72,309,476	Y52*	probably null	Het
Gucy2g	A	G	19: 55,206,256	F910L	probably damaging	Het
Helz	T	C	11: 107,649,145	V315A	probably damaging	Het
Hk2	T	C	6: 82,739,648	Y301C	probably damaging	Het
Htt	C	T	5: 34,852,765	P1521S	probably damaging	Het
Iah1	T	C	12: 21,316,433	M1T	probably null	Het
Ik	T	C	18: 36,752,414	S287P	probably damaging	Het
Itga1	T	A	13: 115,049,370	D32V	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Klk14	A	G	7: 43,691,968	I15V	probably benign	Het
Kng2	T	C	16: 22,987,641	I603V	possibly damaging	Het
Lama1	T	C	17: 67,773,778	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,922,304	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,454,244	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,468,816	N233K	probably benign	Het
Mapk13	T	C	17: 28,770,049	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430	F123L	probably damaging	Het
Mettl7b	G	T	10: 128,960,702	C79*	probably null	Het
Myh4	G	C	11: 67,245,811	D472H	probably damaging	Het
Nipa2	A	T	7: 55,935,826	N121K	probably benign	Het
Nostrin	C	T	2: 69,183,924	T408M	probably benign	Het
Olfr347	A	G	2: 36,734,674	M118V	probably damaging	Het
Olfr725	T	C	14: 50,034,830	D191G	probably damaging	Het
Oosp2	C	T	19: 11,649,653	R102H	probably damaging	Het
Osgin2	T	A	4: 16,001,946	I202L	probably benign	Het
Pbld2	C	A	10: 63,057,697	R271S	probably damaging	Het
Pex6	C	T	17: 46,712,101	T201I	probably benign	Het
Pilra	T	C	5: 137,835,515	I96M	probably damaging	Het
Pllp	T	A	8: 94,677,278	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,762,594	S765G	probably benign	Het
Prkca	A	T	11: 107,961,608	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,664,179	K35*	probably null	Het
Psmc2	A	G	5: 21,803,265	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,441,125	T2387A	probably damaging	Het
Ros1	T	C	10: 52,129,096	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,491,599	T367K	probably benign	Het
Scube2	C	T	7: 109,810,713	R525H	probably damaging	Het
Sec14l4	T	C	11: 4,035,200		probably null	Het
Secisbp2l	T	C	2: 125,745,942	D751G	probably damaging	Het
Setd3	T	C	12: 108,108,690	D402G	probably benign	Het
Slc15a2	T	A	16: 36,757,849	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,196,936	S2P	probably benign	Het
Slfn8	A	T	11: 83,017,506	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,490	I944V	probably benign	Het
Spg11	A	G	2: 122,065,076	F1887S	probably damaging	Het
Sptbn4	T	C	7: 27,364,419	E879G	probably damaging	Het
Sptbn4	A	T	7: 27,366,735	D649E	possibly damaging	Het
Stx5a	C	A	19: 8,743,361	R121S	probably damaging	Het
Tbcd	T	C	11: 121,493,771	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,207,437	D649G	probably benign	Het
Tfam	A	G	10: 71,237,847	S32P	probably benign	Het
Trmt44	C	T	5: 35,558,043	R642H	probably benign	Het
Trpm3	G	A	19: 22,987,781	A1547T	probably benign	Het
Ttll6	T	C	11: 96,153,177	V519A	probably benign	Het
Umodl1	T	C	17: 30,998,114	F1107L	probably benign	Het
Usp5	A	T	6: 124,817,956	V677E	probably damaging	Het
Utp20	A	T	10: 88,807,445	L605*	probably null	Het
Utrn	T	C	10: 12,745,240	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502	L178*	probably null	Het
Vmn2r88	A	T	14: 51,413,334	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,178	V1476A	probably damaging	Het
Vps13b	C	T	15: 35,841,341	H2506Y	probably benign	Het
Vps13b	C	A	15: 35,879,821	T3014K	probably benign	Het
Vps37c	T	C	19: 10,712,768	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,423,385	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,854,407	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078	T1994A	probably benign	Het
Zfp791	A	G	8: 85,110,930	Y102H	probably benign	Het

Other mutations in Eps8l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Eps8l1	APN	7	4478920	utr 3 prime	probably benign
IGL01455:Eps8l1	APN	7	4478923	utr 3 prime	probably benign
IGL01872:Eps8l1	APN	7	4472296	splice site	probably benign
IGL02343:Eps8l1	APN	7	4472124	missense	probably benign	0.04
IGL02585:Eps8l1	APN	7	4469213	missense	probably damaging	1.00
IGL02596:Eps8l1	APN	7	4470872	missense	probably damaging	0.99
IGL02673:Eps8l1	APN	7	4478732	missense	probably damaging	1.00
IGL03117:Eps8l1	APN	7	4470887	missense	probably damaging	1.00
Anamnestic	UTSW	7	4470874	missense	probably damaging	0.98
souvenir	UTSW	7	4477896	missense	possibly damaging	0.56
PIT4142001:Eps8l1	UTSW	7	4471415	missense	probably benign	0.00
PIT4151001:Eps8l1	UTSW	7	4471415	missense	probably benign	0.00
PIT4480001:Eps8l1	UTSW	7	4471415	missense	probably benign	0.00
R0015:Eps8l1	UTSW	7	4477557	splice site	probably benign
R0599:Eps8l1	UTSW	7	4477957	missense	possibly damaging	0.90
R0686:Eps8l1	UTSW	7	4477450	missense	probably benign	0.36
R0827:Eps8l1	UTSW	7	4477389	missense	possibly damaging	0.86
R1015:Eps8l1	UTSW	7	4469933	missense	probably damaging	1.00
R1447:Eps8l1	UTSW	7	4474056	missense	probably damaging	1.00
R1490:Eps8l1	UTSW	7	4470889	missense	probably damaging	1.00
R1527:Eps8l1	UTSW	7	4471394	missense	probably benign
R1553:Eps8l1	UTSW	7	4477449	missense	probably damaging	0.98
R1763:Eps8l1	UTSW	7	4471823	missense	probably benign	0.43
R1863:Eps8l1	UTSW	7	4465360	utr 5 prime	probably benign
R2357:Eps8l1	UTSW	7	4470355	missense	probably benign	0.06
R3153:Eps8l1	UTSW	7	4471799	missense	probably damaging	1.00
R4082:Eps8l1	UTSW	7	4470798	splice site	probably null
R4539:Eps8l1	UTSW	7	4478624	missense	probably damaging	1.00
R4930:Eps8l1	UTSW	7	4460916	missense	possibly damaging	0.66
R4931:Eps8l1	UTSW	7	4471241	missense	possibly damaging	0.95
R5245:Eps8l1	UTSW	7	4470874	missense	probably damaging	0.98
R5247:Eps8l1	UTSW	7	4470402	missense	probably damaging	1.00
R5305:Eps8l1	UTSW	7	4477896	missense	possibly damaging	0.56
R5420:Eps8l1	UTSW	7	4470161	splice site	probably null
R5620:Eps8l1	UTSW	7	4460946	missense	possibly damaging	0.83
R5705:Eps8l1	UTSW	7	4470035	missense	probably benign	0.00
R6063:Eps8l1	UTSW	7	4471297	missense	possibly damaging	0.56
R6909:Eps8l1	UTSW	7	4469900	nonsense	probably null
R7096:Eps8l1	UTSW	7	4474191	missense	probably benign	0.01
R7136:Eps8l1	UTSW	7	4477404	missense	probably damaging	1.00
R7144:Eps8l1	UTSW	7	4472185	missense	probably damaging	1.00
R7381:Eps8l1	UTSW	7	4470438	splice site	probably null
R7539:Eps8l1	UTSW	7	4470037	missense	probably damaging	1.00
R7784:Eps8l1	UTSW	7	4472122	missense	probably damaging	1.00
R7833:Eps8l1	UTSW	7	4468867	missense	possibly damaging	0.76
R8190:Eps8l1	UTSW	7	4471298	missense	probably benign	0.05
R8311:Eps8l1	UTSW	7	4471818	missense	probably damaging	1.00
R8549:Eps8l1	UTSW	7	4470854	missense	probably damaging	1.00
R8960:Eps8l1	UTSW	7	4478215	missense	probably damaging	1.00
R8974:Eps8l1	UTSW	7	4471818	missense	probably damaging	1.00
R9003:Eps8l1	UTSW	7	4461017	missense	possibly damaging	0.92
R9023:Eps8l1	UTSW	7	4474043	nonsense	probably null
R9131:Eps8l1	UTSW	7	4477574	missense
X0060:Eps8l1	UTSW	7	4470851	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGTGGACCCAGTGTGTTTAG -3'
(R):5'- CACCCCTGTGATGCAGTTAG -3'

Sequencing Primer
(F):5'- ACTGGCCTTGAACTCAGAGATCTG -3'
(R):5'- AGCTGTTTTTCCACTGGG -3'

Posted On

2015-10-21