Mutagenetix > Incidental Mutation

Incidental Mutation 'R5705:Eps8l1'

451920

Institutional Source

Beutler Lab

Gene Symbol

Eps8l1

Ensembl Gene

ENSMUSG00000006154

Gene Name

EPS8-like 1

Synonyms

4632407K17Rik, 2310051G19Rik, DRC3, EPS8R1

MMRRC Submission

043330-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5705 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4460674-4480487 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4470035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000131345 (fasta)

Gene Model

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

AlphaFold

Q8R5F8

Predicted Effect

probably benign
Transcript: ENSMUST00000086372
AA Change: V91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: V91A

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
AA Change: V91A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154
AA Change: V91A

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: V91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: V91A

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: ENSMUST00000167068

Predicted Effect

probably benign
Transcript: ENSMUST00000167298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167599

Predicted Effect

probably benign
Transcript: ENSMUST00000167810
AA Change: V91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154
AA Change: V91A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169820
AA Change: V91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154
AA Change: V91A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170423

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171445
AA Change: V152A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: V152A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,015,442	V2163A	probably benign	Het
Abcg3	G	A	5: 104,968,170	A266V	probably damaging	Het
Ago1	T	C	4: 126,448,794	I519V	probably benign	Het
Arhgap4	G	A	X: 73,906,817	R43W	probably damaging	Het
Aurkb	T	A	11: 69,048,815	L213I	possibly damaging	Het
Bod1l	T	A	5: 41,817,002	Q2323L	probably benign	Het
Ccdc17	C	T	4: 116,596,869	T28I	probably benign	Het
Ccdc39	T	C	3: 33,816,937	E630G	probably damaging	Het
Cnih4	A	G	1: 181,153,735	I24V	probably benign	Het
Ctse	C	A	1: 131,664,374	T146K	possibly damaging	Het
Ctsr	A	G	13: 61,161,264	F226L	probably damaging	Het
Cyp2a22	T	C	7: 26,939,215	N49D	probably benign	Het
Defb23	C	T	2: 152,459,284	A123T	probably benign	Het
Dtx2	C	A	5: 136,010,295	D69E	probably damaging	Het
Eps8l3	C	A	3: 107,891,264	Q489K	probably benign	Het
Esyt3	A	G	9: 99,318,207	S645P	probably benign	Het
Fam161a	T	A	11: 23,028,869	M472K	unknown	Het
Fam196b	A	G	11: 34,404,349	Y473C	probably damaging	Het
Fam26e	A	T	10: 34,095,993	C149S	probably damaging	Het
Glp2r	A	G	11: 67,709,739	V428A	probably benign	Het
Gnl1	G	A	17: 35,981,600	V191I	probably benign	Het
Hfm1	T	C	5: 106,911,453	I234M	probably benign	Het
Hlx	T	C	1: 184,730,865	T197A	probably benign	Het
Hs3st2	T	C	7: 121,393,082	L85P	probably damaging	Het
Igsf9	T	C	1: 172,494,771	V511A	possibly damaging	Het
Kcnma1	A	T	14: 24,003,771	C54S	possibly damaging	Het
Klhdc4	A	G	8: 121,804,993	V181A	probably benign	Het
Ldb3	T	C	14: 34,577,029	M213V	probably null	Het
Mertk	C	A	2: 128,771,401	Q446K	probably benign	Het
Ndufs1	A	G	1: 63,147,158	V46A	probably benign	Het
Neurod4	A	G	10: 130,271,402	M1T	probably null	Het
Nlrc5	T	A	8: 94,475,757	C162S	probably benign	Het
Pald1	A	G	10: 61,323,297	I785T	possibly damaging	Het
Pcmt1	T	C	10: 7,638,190	I224M	possibly damaging	Het
Pisd	C	T	5: 32,737,363	R533H	probably benign	Het
Plcxd3	C	A	15: 4,517,194	Q227K	probably benign	Het
Polr1b	A	T	2: 129,105,351	K199*	probably null	Het
Ppp1r10	T	C	17: 35,929,489	V557A	probably damaging	Het
Ralgapa2	A	G	2: 146,449,273	Y248H	probably damaging	Het
Rsrp1	T	C	4: 134,924,020	S32P	unknown	Het
Setdb2	T	G	14: 59,423,365	S110R	possibly damaging	Het
Srcin1	A	G	11: 97,548,951	C152R	probably benign	Het
Syk	A	G	13: 52,611,047	N70S	probably benign	Het
Tlr4	T	A	4: 66,833,980	D59E	probably damaging	Het
Tm9sf4	T	A	2: 153,182,458	I67N	probably benign	Het
Trim30b	T	A	7: 104,357,577	Y24F	probably damaging	Het
Tsga13	A	G	6: 30,900,016	S189P	probably damaging	Het
Tspan33	A	G	6: 29,717,233	D210G	probably benign	Het
Use1	G	T	8: 71,369,687	R278L	probably damaging	Het
Wwc1	T	C	11: 35,876,596	N403D	probably damaging	Het
Zfp263	C	T	16: 3,746,454	P203S	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
R4684:Eps8l1	UTSW	7	4473945	missense	probably damaging	0.99
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
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
R9517:Eps8l1	UTSW	7	4477637	missense	probably damaging	1.00
R9653:Eps8l1	UTSW	7	4478887	missense	unknown
X0060:Eps8l1	UTSW	7	4470851	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCAGCAACAGCTTGGCATAGC -3'
(R):5'- AGAGCAGTGTCCAGGACTTG -3'

Sequencing Primer
(F):5'- ATAGCCTGGGACTCAGCTAC -3'
(R):5'- ACTTGGGGCAAGGCAACC -3'

Posted On

2017-01-03