Mutagenetix > Incidental Mutation

Incidental Mutation 'R0015:Eps8l1'

64896

Institutional Source

Beutler Lab

Gene Symbol

Eps8l1

Ensembl Gene

ENSMUSG00000006154

Gene Name

EPS8-like 1

Synonyms

4632407K17Rik, 2310051G19Rik, DRC3, EPS8R1

MMRRC Submission

038310-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0015 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

4460674-4480487 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 4477557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013886] [ENSMUST00000086372] [ENSMUST00000124248] [ENSMUST00000163137] [ENSMUST00000163893] [ENSMUST00000164987] [ENSMUST00000171445]

AlphaFold

Q8R5F8

Predicted Effect

probably benign
Transcript: ENSMUST00000013886

SMART Domains

Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	74	97	N/A	INTRINSIC
ANK	104	133	3.71e-4	SMART
ANK	137	166	3.43e-8	SMART
low complexity region	205	210	N/A	INTRINSIC
ANK	230	259	7.95e-4	SMART
ANK	263	292	2.41e-3	SMART
low complexity region	369	385	N/A	INTRINSIC
low complexity region	401	413	N/A	INTRINSIC
internal_repeat_2	450	508	2.86e-5	PROSPERO
internal_repeat_2	545	599	2.86e-5	PROSPERO
low complexity region	631	649	N/A	INTRINSIC
Pfam:PRKG1_interact	682	782	9.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086372

SMART Domains

Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154

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: ENSMUST00000124248

SMART Domains

Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254

Domain	Start	End	E-Value	Type
ANK	25	54	3.71e-4	SMART
ANK	58	87	3.43e-8	SMART
low complexity region	126	131	N/A	INTRINSIC
ANK	151	180	7.95e-4	SMART
ANK	184	213	2.41e-3	SMART
low complexity region	290	306	N/A	INTRINSIC
low complexity region	322	334	N/A	INTRINSIC
PDB:2KJY\|A	445	498	3e-11	PDB
low complexity region	553	571	N/A	INTRINSIC
coiled coil region	604	704	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153101

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: ENSMUST00000163893

SMART Domains

Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154

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

noncoding transcript
Transcript: ENSMUST00000168924

Predicted Effect

probably benign
Transcript: ENSMUST00000171445

SMART Domains

Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

97% (71/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,186,184	R408H	probably damaging	Het
A130050O07Rik	A	G	1: 137,928,656	Y23C	unknown	Het
Adcy3	G	A	12: 4,195,260		probably null	Het
Aldh6a1	G	A	12: 84,441,780	L86F	probably damaging	Het
Arl10	G	T	13: 54,575,957		probably benign	Het
Armc3	A	G	2: 19,296,321		probably null	Het
Astn2	T	G	4: 66,266,382		probably null	Het
Cacna1d	G	A	14: 30,114,971	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682		probably benign	Het
Cdh5	C	T	8: 104,140,927	T612I	probably benign	Het
Cfap58	A	G	19: 48,029,100	M800V	probably benign	Het
Clrn1	A	T	3: 58,846,427	I171K	probably damaging	Het
Cnp	T	A	11: 100,578,908		probably null	Het
Col12a1	T	C	9: 79,651,385	T1933A	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666	S660G	probably benign	Het
Dync1i2	C	A	2: 71,214,484	R13S	probably damaging	Het
Espn	T	C	4: 152,139,152	T188A	possibly damaging	Het
F2	T	C	2: 91,630,607	E260G	probably benign	Het
Fat4	T	A	3: 38,982,503	S3435T	probably damaging	Het
Fchsd1	A	G	18: 37,962,959	C533R	probably benign	Het
Fstl5	G	A	3: 76,322,191	V100M	probably damaging	Het
Gls2	T	G	10: 128,209,350	L572R	probably damaging	Het
Gm20939	A	T	17: 94,876,768	E281D	probably benign	Het
Gpr35	T	G	1: 92,983,232	L222W	probably damaging	Het
Hsf5	C	A	11: 87,657,335	H615N	probably benign	Het
Id2	C	T	12: 25,095,803	D70N	probably damaging	Het
Ints2	T	C	11: 86,249,287	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,662,773	D631A	probably damaging	Het
Klhdc8a	A	G	1: 132,303,005	T203A	probably damaging	Het
Lama4	C	T	10: 39,075,436	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,447,298	L226P	probably damaging	Het
Lifr	T	A	15: 7,188,186		probably null	Het
Lonp1	T	A	17: 56,618,406	Q462L	probably benign	Het
Lypd1	A	G	1: 125,910,438	V48A	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,326	I67T	possibly damaging	Het
Mbd3l1	A	T	9: 18,484,858	D93V	probably benign	Het
Mdh1b	T	C	1: 63,721,800		probably benign	Het
Myh7b	C	T	2: 155,622,286	P569L	probably damaging	Het
Ncapd3	C	A	9: 27,051,809	A470E	probably damaging	Het
Ndrg2	A	G	14: 51,910,445		probably benign	Het
Nprl2	A	T	9: 107,544,419	I209F	probably damaging	Het
Ntrk1	A	G	3: 87,791,750		probably benign	Het
Olfm2	T	C	9: 20,668,741	E268G	probably damaging	Het
Olfr884	T	A	9: 38,047,667	Y148*	probably null	Het
Pcf11	T	A	7: 92,658,317	H881L	probably benign	Het
Pde10a	A	G	17: 8,977,197	D640G	probably damaging	Het
Pde9a	G	A	17: 31,386,356		probably null	Het
Pianp	G	T	6: 125,001,540	G236V	probably damaging	Het
Polr2g	A	G	19: 8,793,652	I160T	probably damaging	Het
Ppp1r3a	A	G	6: 14,717,661	S1085P	possibly damaging	Het
Pter	G	A	2: 13,001,000	G328D	probably damaging	Het
Rad51	T	A	2: 119,116,327	M5K	probably benign	Het
Rbm43	T	A	2: 51,925,667	I181F	probably benign	Het
Rgs12	T	C	5: 35,022,776		probably benign	Het
Rnf213	A	C	11: 119,441,606	D2547A	possibly damaging	Het
Slc20a2	C	A	8: 22,535,345	A21E	probably damaging	Het
Stab2	A	G	10: 86,843,617	S2503P	probably benign	Het
Sv2b	A	T	7: 75,125,641	F479L	probably damaging	Het
Sybu	T	C	15: 44,673,500	R349G	probably damaging	Het
Tead3	T	C	17: 28,341,351	Y2C	probably damaging	Het
Tnrc6c	T	A	11: 117,721,458	N307K	probably damaging	Het
Ubxn11	C	G	4: 134,116,025		probably null	Het
Ust	T	C	10: 8,330,065		probably benign	Het
Vmn2r116	T	A	17: 23,401,849	N852K	probably benign	Het
Zgrf1	T	C	3: 127,555,397		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
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
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
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'- TGAGTCCCAGCTAGAAGAGAAAGCC -3'
(R):5'- TTTAGACTGTCGCAACTGTCCCAC -3'

Sequencing Primer
(F):5'- GCCAGAAAATGGGTTCTGTG -3'
(R):5'- TGCTAGTCTCCTAGAAGGGAATG -3'

Posted On

2013-08-06