Mutagenetix > Incidental Mutation

Incidental Mutation 'R8311:Eps8l1'

641380

Institutional Source

Beutler Lab

Gene Symbol

Eps8l1

Ensembl Gene

ENSMUSG00000006154

Gene Name

EPS8-like 1

Synonyms

4632407K17Rik, 2310051G19Rik, DRC3, EPS8R1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4460674-4480487 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4471818 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 266 (D266G)

Ref Sequence

ENSEMBL: ENSMUSP00000083559 (fasta)

Gene Model

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

AlphaFold

Q8R5F8

PDB Structure

Crystal structure of phosphotyrosine binding (PTB) domain of epidermal growth factor receptor pathway substrate-8 (EPS8) related protein 1 from Mus musculus (form-1 crystal) [X-RAY DIFFRACTION]
Crystal structure of phosphotyrosine binding (PTB) domain of epidermal growth factor receptor pathway substrate-8 (EPS8) related protein 1 from Mus musculus (form-2 crystal) [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000086372
AA Change: D266G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: D266G

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: 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: D266G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: D266G

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: ENSMUST00000167298

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

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: D327G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: D327G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,973,169	V834A	probably benign	Het
2700049A03Rik	A	G	12: 71,138,041		probably benign	Het
4930407I10Rik	T	C	15: 82,063,239	W446R	possibly damaging	Het
Aldh1l2	T	A	10: 83,490,615	E912D	probably damaging	Het
Apol9a	T	C	15: 77,405,020	D49G	possibly damaging	Het
Bnc2	A	T	4: 84,276,345	D847E	possibly damaging	Het
Ccdc91	A	G	6: 147,535,616	N100S	possibly damaging	Het
Copb2	G	T	9: 98,568,019	K10N	possibly damaging	Het
Cyp4a14	A	G	4: 115,491,078	S401P	probably damaging	Het
Cyp4f15	A	T	17: 32,697,940	Q277L	probably benign	Het
Dmxl2	A	T	9: 54,446,933	S410T	probably benign	Het
Dnah9	T	C	11: 65,989,818	N2651S	probably benign	Het
Efhb	A	G	17: 53,413,461		probably null	Het
Eif4ebp1	T	A	8: 27,275,096	F113L	probably damaging	Het
Emilin2	C	G	17: 71,255,146	D954H	probably damaging	Het
Eng	A	G	2: 32,678,993	T511A	probably benign	Het
Fam120a	T	C	13: 48,933,957	H309R	possibly damaging	Het
Gga3	A	T	11: 115,587,008	S585T	probably benign	Het
Gm12117	T	C	11: 33,276,126	Q70R	probably damaging	Het
Gm15922	T	C	7: 3,736,483	D462G	probably benign	Het
Gpr158	A	G	2: 21,368,890	H212R	probably benign	Het
Hmgb1	A	G	5: 149,050,617	F41L	possibly damaging	Het
Iqcm	T	A	8: 75,753,490		probably benign	Het
Itgav	T	A	2: 83,765,777	I214N	probably damaging	Het
Kcna1	T	A	6: 126,642,292	H355L	probably benign	Het
Lrrc37a	C	T	11: 103,503,421	V393I	probably benign	Het
Mak16	T	C	8: 31,168,669	D4G	probably damaging	Het
Metap2	C	T	10: 93,861,522	R432H	possibly damaging	Het
Nlrc4	G	A	17: 74,446,545	T281M	probably damaging	Het
Ntrk1	T	A	3: 87,781,563	Q561L	probably damaging	Het
Olfr1328	A	C	4: 118,934,150	S231A	probably damaging	Het
Olfr1493-ps1	A	G	19: 13,726,671	T137A	possibly damaging	Het
Polr2a	T	C	11: 69,737,456	I1304V	probably null	Het
Ppp4r2	T	C	6: 100,866,382	S354P	probably benign	Het
Ptchd3	A	G	11: 121,836,473	H391R	possibly damaging	Het
Rchy1	T	C	5: 91,951,903	D192G	probably damaging	Het
Rmdn1	T	C	4: 19,575,329		probably null	Het
Rp1	T	A	1: 4,348,349	I847L	probably benign	Het
Rtn1	T	C	12: 72,304,064	E457G	probably damaging	Het
Serpind1	G	A	16: 17,342,866	S420N	possibly damaging	Het
Sirpa	T	C	2: 129,616,223	V253A	probably damaging	Het
Snapc4	A	T	2: 26,378,534	F38L	probably benign	Het
Srcap	T	C	7: 127,557,797	F2321S	probably damaging	Het
Stat4	A	T	1: 52,102,916	I641F	probably damaging	Het
Tmem216	A	T	19: 10,551,827	F65Y	probably benign	Het
Tmem37	C	T	1: 120,068,252	V32M	possibly damaging	Het
Tmprss11c	T	G	5: 86,235,553	Q338P	probably damaging	Het
Tonsl	C	T	15: 76,633,263	S752N	probably benign	Het
Vmn1r26	T	C	6: 58,008,533	K224E	probably benign	Het
Vps13b	T	A	15: 35,886,954	V3229D	probably benign	Het
Vwa5b2	C	T	16: 20,591,222	R21W	probably damaging	Het
Wdr37	T	C	13: 8,853,573	R165G	unknown	Het
Yars2	T	C	16: 16,307,283	F388L	probably benign	Het
Ykt6	T	A	11: 5,962,366	D106E	probably benign	Het
Zc3h12a	A	C	4: 125,126,995	S18R	possibly damaging	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
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
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'- TAGCTGACAAGATGCTGGGTC -3'
(R):5'- TAGGAAGTCAGACCTGGCTG -3'

Sequencing Primer
(F):5'- ATGGGAGTTAATTCTAGAAGTATGGC -3'
(R):5'- CTGGCTGGTGGTGGGAGAC -3'

Posted On

2020-07-28