Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Eps8'

372405

Institutional Source

Beutler Lab

Gene Symbol

Eps8

Ensembl Gene

ENSMUSG00000015766

Gene Name

epidermal growth factor receptor pathway substrate 8

Synonyms

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137477245-137654876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137514295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 362 (F362L)

Ref Sequence

ENSEMBL: ENSMUSP00000107509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058210] [ENSMUST00000100841] [ENSMUST00000111878] [ENSMUST00000132920] [ENSMUST00000147526]

AlphaFold

Q08509

Predicted Effect

probably damaging
Transcript: ENSMUST00000058210
AA Change: F362L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: F362L

Domain	Start	End	E-Value	Type
PTB	60	197	8.38e-34	SMART
low complexity region	203	221	N/A	INTRINSIC
low complexity region	229	241	N/A	INTRINSIC
low complexity region	298	309	N/A	INTRINSIC
SH3	533	588	5.48e-14	SMART
low complexity region	620	651	N/A	INTRINSIC
Blast:SH3	652	686	6e-6	BLAST
PDB:2E8M\|A	698	783	5e-50	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000100841
AA Change: F362L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: F362L

Domain	Start	End	E-Value	Type
PTB	60	197	8.38e-34	SMART
low complexity region	203	221	N/A	INTRINSIC
low complexity region	229	241	N/A	INTRINSIC
low complexity region	298	309	N/A	INTRINSIC
SH3	533	588	5.48e-14	SMART
low complexity region	620	651	N/A	INTRINSIC
Blast:SH3	652	686	6e-6	BLAST
PDB:2E8M\|A	698	783	5e-50	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000111878
AA Change: F362L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: F362L

Domain	Start	End	E-Value	Type
PTB	60	197	8.38e-34	SMART
low complexity region	203	221	N/A	INTRINSIC
low complexity region	229	241	N/A	INTRINSIC
low complexity region	298	309	N/A	INTRINSIC
SH3	533	588	5.48e-14	SMART
low complexity region	620	651	N/A	INTRINSIC
Blast:SH3	652	686	6e-6	BLAST
PDB:2E8M\|A	698	783	5e-50	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130274
AA Change: F137L

Predicted Effect

probably benign
Transcript: ENSMUST00000132920

SMART Domains

Protein: ENSMUSP00000122517
Gene: ENSMUSG00000015766

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC
PTB	77	214	8.38e-34	SMART
low complexity region	220	238	N/A	INTRINSIC
low complexity region	246	258	N/A	INTRINSIC
low complexity region	315	326	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147526
AA Change: F362L

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: F362L

Domain	Start	End	E-Value	Type
PTB	60	197	8.38e-34	SMART
low complexity region	203	221	N/A	INTRINSIC
low complexity region	229	241	N/A	INTRINSIC
low complexity region	298	309	N/A	INTRINSIC
SH3	533	587	4.56e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152046

Meta Mutation Damage Score

0.4981

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in resistance to some of the intoxicating effects of ethanol and increased ethanol consumption. NMDA receptor currents and their sensitivity to inhibition by ethanol are abnormal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,423	S466P	possibly damaging	Het
1700061G19Rik	A	G	17: 56,888,655	N684S	probably benign	Het
4930435E12Rik	A	G	16: 38,828,145	S201P	probably damaging	Het
Ablim1	T	C	19: 57,079,866	T267A	probably damaging	Het
Acap2	A	T	16: 31,103,499	L724Q	possibly damaging	Het
Adcy4	T	C	14: 55,781,927	T89A	possibly damaging	Het
Agrp	T	C	8: 105,567,368	E41G	probably benign	Het
Akr1d1	G	A	6: 37,564,491	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,309,674	R54Q	probably benign	Het
Arhgap45	T	A	10: 80,027,066	V692E	probably damaging	Het
Arid5b	G	T	10: 68,243,095	N137K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
BC048679	T	C	7: 81,495,720	N27D	probably benign	Het
Ccdc78	A	G	17: 25,788,700	N237S	probably benign	Het
Cd46	G	A	1: 195,062,396	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,167	E731G	probably damaging	Het
Ctsh	A	G	9: 90,054,548	E26G	probably benign	Het
Cul1	G	T	6: 47,517,146	K464N	probably benign	Het
Cul1	T	A	6: 47,517,191	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,340,232	D373E	probably benign	Het
Ddx58	G	T	4: 40,210,000	S644R	probably damaging	Het
Dhcr7	A	G	7: 143,840,500	Q126R	probably benign	Het
Dok2	T	C	14: 70,777,516	F228L	probably damaging	Het
Dpep3	T	G	8: 105,976,189	I314L	probably benign	Het
Espn	G	T	4: 152,138,846	R250S	probably damaging	Het
Faf1	A	C	4: 109,742,896	N163H	probably damaging	Het
Fam198b	C	A	3: 79,936,674	S36*	probably null	Het
Fam71e2	C	T	7: 4,757,469		probably null	Het
Fcho1	C	T	8: 71,710,481	V635I	probably benign	Het
Gm7579	G	A	7: 142,211,908	C17Y	unknown	Het
Gm996	T	C	2: 25,578,753	Y382C	probably damaging	Het
Gpx8	G	T	13: 113,045,508	Y130*	probably null	Het
Gvin1	A	T	7: 106,163,436	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,305,818	M30K	probably benign	Het
Iqub	T	C	6: 24,450,842	D586G	probably damaging	Het
Klhl25	T	C	7: 75,867,050	I568T	probably benign	Het
Larp6	A	G	9: 60,737,810	E411G	probably damaging	Het
Lepr	A	C	4: 101,789,337	I822L	probably benign	Het
Lrig3	C	A	10: 126,011,052	D896E	probably benign	Het
Lrp1	C	T	10: 127,553,824	G3114D	probably damaging	Het
Macf1	A	T	4: 123,486,750	Y1263N	probably damaging	Het
Mapk10	T	C	5: 102,990,619	D180G	probably damaging	Het
Matr3	T	A	18: 35,581,640	V113E	probably damaging	Het
Mbd4	A	T	6: 115,848,926	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,082,280	R238W	probably benign	Het
Mcrip2	G	T	17: 25,864,647	T86N	possibly damaging	Het
Mink1	A	G	11: 70,611,592	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,635,194	T1128I	probably benign	Het
Nrg2	T	A	18: 36,196,547	Y205F	probably damaging	Het
Nubp2	A	G	17: 24,884,456	M149T	probably benign	Het
Olfr1062	T	C	2: 86,422,957	T240A	probably damaging	Het
Olfr462	T	A	11: 87,889,225	M224L	probably damaging	Het
Olfr974	G	T	9: 39,942,504	M81I	probably benign	Het
Pax3	A	G	1: 78,192,456	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,643,710	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 116,340,156	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,537,378	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,988,993	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,990,514	T91A	probably benign	Het
Ptger4	G	T	15: 5,242,606	N177K	probably benign	Het
Reln	A	G	5: 21,901,751	F3207S	probably benign	Het
Ripk4	C	T	16: 97,751,536	R194H	probably damaging	Het
Rnf112	A	T	11: 61,452,744	C112S	possibly damaging	Het
Rprd1b	T	G	2: 158,074,935	Y278*	probably null	Het
Sel1l	A	G	12: 91,831,602	L140P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,655,064	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Slmap	A	T	14: 26,460,209	V323E	probably benign	Het
Smim6	T	C	11: 115,913,504	V39A	probably benign	Het
Sorbs1	T	C	19: 40,337,005	T382A	probably benign	Het
Sparc	G	A	11: 55,399,211	T218I	possibly damaging	Het
Steap1	A	T	5: 5,736,589	F283I	probably damaging	Het
Stil	A	G	4: 115,038,474	T586A	probably benign	Het
Tbce	T	A	13: 14,019,795	D93V	probably damaging	Het
Tcf12	C	T	9: 71,858,840	G504S	probably null	Het
Tle4	A	T	19: 14,464,345	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164	F254S	probably damaging	Het
Tmem251	A	T	12: 102,744,055		probably benign	Het
Tubgcp3	T	C	8: 12,649,722	K377R	probably benign	Het
Ush2a	A	T	1: 188,553,275	T2003S	probably benign	Het
Usp53	A	G	3: 122,961,363	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 12,152,756	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,401,803	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,275,601	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,385,843	D836V	probably damaging	Het
Vps13d	A	G	4: 145,087,161	F165L	probably benign	Het
Vstm4	A	G	14: 32,863,785	E103G	possibly damaging	Het
Zfp870	A	T	17: 32,883,340	C339*	probably null	Het

Other mutations in Eps8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Eps8	APN	6	137505479	missense	probably benign	0.00
IGL00499:Eps8	APN	6	137522888	nonsense	probably null
IGL01587:Eps8	APN	6	137514713	missense	probably damaging	1.00
IGL01789:Eps8	APN	6	137539366	missense	probably benign	0.01
IGL01836:Eps8	APN	6	137483541	critical splice donor site	probably null
IGL01951:Eps8	APN	6	137537671	missense	possibly damaging	0.66
IGL02478:Eps8	APN	6	137522842	missense	probably benign	0.05
IGL02546:Eps8	APN	6	137479066	missense	probably benign	0.30
IGL02861:Eps8	APN	6	137499599	missense	probably damaging	1.00
IGL03115:Eps8	APN	6	137527381	missense	probably damaging	1.00
IGL03355:Eps8	APN	6	137512145	splice site	probably benign
FR4589:Eps8	UTSW	6	137517069	frame shift	probably null
R0113:Eps8	UTSW	6	137537684	missense	possibly damaging	0.87
R0245:Eps8	UTSW	6	137479128	missense	probably benign	0.01
R0462:Eps8	UTSW	6	137514311	missense	probably benign	0.00
R0905:Eps8	UTSW	6	137514307	missense	probably benign	0.23
R1106:Eps8	UTSW	6	137514324	missense	probably damaging	1.00
R1178:Eps8	UTSW	6	137522854	missense	possibly damaging	0.46
R1181:Eps8	UTSW	6	137522854	missense	possibly damaging	0.46
R1448:Eps8	UTSW	6	137522854	missense	possibly damaging	0.46
R1612:Eps8	UTSW	6	137500618	missense	probably benign	0.00
R1835:Eps8	UTSW	6	137522279	nonsense	probably null
R2068:Eps8	UTSW	6	137522174	missense	probably benign	0.13
R2113:Eps8	UTSW	6	137537635	splice site	probably null
R2943:Eps8	UTSW	6	137522872	missense	probably damaging	1.00
R3032:Eps8	UTSW	6	137512177	missense	probably damaging	0.96
R3879:Eps8	UTSW	6	137527362	splice site	probably benign
R3973:Eps8	UTSW	6	137509155	missense	probably benign	0.00
R4199:Eps8	UTSW	6	137514327	missense	probably damaging	0.96
R4384:Eps8	UTSW	6	137499592	missense	probably benign	0.30
R4728:Eps8	UTSW	6	137509162	nonsense	probably null
R4840:Eps8	UTSW	6	137527130	missense	probably damaging	1.00
R4860:Eps8	UTSW	6	137514295	missense	probably damaging	0.97
R4864:Eps8	UTSW	6	137478969	utr 3 prime	probably benign
R5197:Eps8	UTSW	6	137490290	missense	probably damaging	0.97
R5197:Eps8	UTSW	6	137490291	missense	possibly damaging	0.91
R5214:Eps8	UTSW	6	137527492	missense	probably damaging	0.99
R5457:Eps8	UTSW	6	137512177	missense	probably damaging	0.96
R5464:Eps8	UTSW	6	137527475	missense	probably damaging	1.00
R5557:Eps8	UTSW	6	137479096	missense	possibly damaging	0.90
R5981:Eps8	UTSW	6	137482210	missense	probably damaging	0.98
R6150:Eps8	UTSW	6	137517174	missense	probably damaging	1.00
R6473:Eps8	UTSW	6	137479098	missense	probably damaging	1.00
R6529:Eps8	UTSW	6	137514337	missense	possibly damaging	0.92
R6574:Eps8	UTSW	6	137483598	nonsense	probably null
R6890:Eps8	UTSW	6	137512257	missense	probably damaging	0.99
R7180:Eps8	UTSW	6	137479074	missense	possibly damaging	0.78
R7229:Eps8	UTSW	6	137539356	missense	probably benign
R7314:Eps8	UTSW	6	137527092	missense	possibly damaging	0.51
R7336:Eps8	UTSW	6	137509213	missense	possibly damaging	0.75
R7784:Eps8	UTSW	6	137499587	missense	probably benign	0.01
R7942:Eps8	UTSW	6	137530577	missense	possibly damaging	0.53
R7988:Eps8	UTSW	6	137528571	missense	possibly damaging	0.95
R7989:Eps8	UTSW	6	137528571	missense	possibly damaging	0.95
R7991:Eps8	UTSW	6	137528571	missense	possibly damaging	0.95
R8235:Eps8	UTSW	6	137483578	missense	possibly damaging	0.62
R8262:Eps8	UTSW	6	137482254	missense	probably benign	0.10
R8834:Eps8	UTSW	6	137527308	intron	probably benign
R8902:Eps8	UTSW	6	137512177	missense	probably damaging	1.00
R9081:Eps8	UTSW	6	137527417	missense	probably benign	0.02
R9225:Eps8	UTSW	6	137530563	missense	probably benign	0.18
RF025:Eps8	UTSW	6	137517066	critical splice donor site	probably benign
RF028:Eps8	UTSW	6	137517063	critical splice donor site	probably benign
RF035:Eps8	UTSW	6	137517070	frame shift	probably null
RF039:Eps8	UTSW	6	137517070	frame shift	probably null
RF046:Eps8	UTSW	6	137517063	critical splice donor site	probably benign
RF057:Eps8	UTSW	6	137517064	critical splice donor site	probably benign
Z1177:Eps8	UTSW	6	137499581	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGAGGTGTGCGTCAAACTTC -3'
(R):5'- GCGTGCATGACAAAGAGTTG -3'

Sequencing Primer
(F):5'- GAGGTGTGCGTCAAACTTCACATTC -3'
(R):5'- ATGGAGCCTCTCTCTAAGGAG -3'

Posted On

2016-03-01