Mutagenetix > Incidental Mutations

Incidental Mutation 'R1490:Eps8l1'

163646

Institutional Source

Beutler Lab

Gene Symbol

Eps8l1

Ensembl Gene

ENSMUSG00000006154

Gene Name

EPS8-like 1

Synonyms

4632407K17Rik, 2310051G19Rik, DRC3, EPS8R1

MMRRC Submission

039542-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1490 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4460674-4480487 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4470889 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 232 (R232G)

Ref Sequence

ENSEMBL: ENSMUSP00000133206 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000086372
AA Change: R171G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: R171G

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 damaging
Transcript: ENSMUST00000163893
AA Change: R171G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: R171G

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

SMART Domains

Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154

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

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 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 damaging
Transcript: ENSMUST00000171445
AA Change: R232G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: R232G

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	A	G	19: 11,141,538	I69T	probably benign	Het
Aldh1l2	G	A	10: 83,520,370	T52I	probably damaging	Het
Arhgef28	G	A	13: 97,978,444	R633W	probably damaging	Het
Atg9a	T	C	1: 75,185,745	N507S	possibly damaging	Het
Bsn	A	G	9: 108,113,994	S1520P	probably benign	Het
Cacul1	G	T	19: 60,580,399	A107E	probably damaging	Het
Cd74	A	G	18: 60,811,366	D216G	probably damaging	Het
Cdh16	A	T	8: 104,622,070	W109R	probably damaging	Het
Cdip1	C	T	16: 4,768,911	V100I	probably damaging	Het
Ceacam3	A	G	7: 17,163,146	D679G	probably damaging	Het
Comp	A	G	8: 70,373,913	D46G	possibly damaging	Het
Dlx3	T	C	11: 95,120,604	Y95H	probably benign	Het
Dmrta2	T	C	4: 109,979,875	S5P	unknown	Het
E130308A19Rik	A	G	4: 59,719,746	Y426C	probably damaging	Het
Entpd3	A	G	9: 120,554,159	S87G	probably benign	Het
Gart	A	T	16: 91,624,344	V812D	probably damaging	Het
Gm10153	C	T	7: 142,190,142	C83Y	unknown	Het
Gpd2	T	C	2: 57,355,475	V394A	probably damaging	Het
Hpcal1	A	T	12: 17,786,224	E18D	probably benign	Het
Mdga2	T	C	12: 66,797,756	D156G	probably benign	Het
Mks1	A	G	11: 87,862,769	K510E	probably benign	Het
Mtmr4	G	A	11: 87,612,225	R1035Q	probably damaging	Het
Myh6	T	A	14: 54,962,718	K235*	probably null	Het
Nedd1	A	G	10: 92,700,798	F214S	probably damaging	Het
Olfr166	T	C	16: 19,486,922	M28T	probably benign	Het
Olfr392	A	G	11: 73,814,371	V237A	possibly damaging	Het
Olfr672	A	G	7: 104,996,493	I137T	possibly damaging	Het
Olfr98	A	G	17: 37,262,842	M274T	probably benign	Het
Pfkfb2	A	C	1: 130,697,889		probably null	Het
Pfkfb4	T	C	9: 109,027,620	L398P	probably damaging	Het
Pfn3	T	G	13: 55,414,919	D83A	probably damaging	Het
Pi4ka	C	A	16: 17,386,268	W54L	probably damaging	Het
Ppp3r1	A	G	11: 17,198,275	D161G	probably benign	Het
Prrc2a	A	G	17: 35,153,254	S1757P	probably benign	Het
Samd7	A	G	3: 30,758,353	E314G	probably benign	Het
Slc17a4	A	G	13: 23,904,753	I217T	probably benign	Het
Slc22a1	A	T	17: 12,662,893		probably null	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Sos1	A	T	17: 80,413,675	H905Q	probably benign	Het
Thada	G	A	17: 84,446,601	T314I	possibly damaging	Het
Tirap	ACTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTG	9: 35,189,066		probably benign	Het
Tlr11	A	C	14: 50,363,176	H873P	probably benign	Het
Tlr4	A	T	4: 66,839,374	T135S	possibly damaging	Het
Tmem116	T	C	5: 121,495,111	S183P	probably damaging	Het
Tubgcp3	A	T	8: 12,639,550	I572K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	T	1: 188,359,841	T523I	probably benign	Het
Usp40	G	A	1: 87,988,965	Q364*	probably null	Het
Vmn1r61	T	C	7: 5,611,243	Q24R	probably benign	Het
Wdfy4	C	A	14: 33,152,538		probably null	Het
Zfp458	G	A	13: 67,257,509	P286S	probably damaging	Het
Zfp68	A	T	5: 138,606,829	C373S	probably benign	Het
Zfp768	T	A	7: 127,343,631	I442F	probably damaging	Het
Zfp990	A	G	4: 145,537,283	R284G	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
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
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
X0060:Eps8l1	UTSW	7	4470851	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GACCATGACTGAATGTGACGATGGG -3'
(R):5'- TTGTCTGGGAGGTACAGGTAAGACC -3'

Sequencing Primer
(F):5'- aggcaggcaggcagAAC -3'
(R):5'- CAACACTCTAGGCTGTTCGT -3'

Posted On

2014-03-28