Mutagenetix > Incidental Mutation

Incidental Mutation 'R7336:Eps8'

569485

Institutional Source

Beutler Lab

Gene Symbol

Eps8

Ensembl Gene

ENSMUSG00000015766

Gene Name

epidermal growth factor receptor pathway substrate 8

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

R7336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137477245-137654876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137509213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 434 (R434C)

Ref Sequence

ENSEMBL: ENSMUSP00000052776 (fasta)

Gene Model

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

AlphaFold

Q08509

PDB Structure

THE SH3 DOMAIN OF EPS8 EXISTS AS A NOVEL INTERTWINED DIMER [X-RAY DIFFRACTION]
EPS8 SH3 DOMAIN INTERTWINED DIMER [X-RAY DIFFRACTION]
EPS8 SH3 CLOSED MONOMER [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058210
AA Change: R434C

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: R434C

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

possibly damaging
Transcript: ENSMUST00000100841
AA Change: R434C

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: R434C

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

possibly damaging
Transcript: ENSMUST00000111878
AA Change: R434C

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: R434C

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

possibly damaging
Transcript: ENSMUST00000147526
AA Change: R434C

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: R434C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,388,233	Q1247H	possibly damaging	Het
Acsf2	G	C	11: 94,571,650	Q180E	probably benign	Het
Adamts8	A	G	9: 30,962,067	D856G	probably benign	Het
Agrn	A	T	4: 156,174,914	C828*	probably null	Het
Ankub1	T	C	3: 57,665,687	T205A	probably benign	Het
Atm	A	T	9: 53,462,503	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,909,843	F257L	probably benign	Het
Bcat2	T	A	7: 45,575,485	C27S	probably benign	Het
Bod1l	G	A	5: 41,821,524	R816C	probably damaging	Het
Btg3	A	G	16: 78,364,807	Y172H	probably benign	Het
C130079G13Rik	G	A	3: 59,932,753		probably null	Het
Cacna1d	T	C	14: 30,045,282	D1940G	probably benign	Het
Catsperg2	T	A	7: 29,706,601	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,303,112	V646A	probably benign	Het
Ccp110	C	T	7: 118,722,210	P363S	probably damaging	Het
Cct4	C	A	11: 23,001,564	T377K	possibly damaging	Het
Cep350	T	A	1: 155,862,276	H2607L	probably benign	Het
Cfap46	A	G	7: 139,620,104	F1954L	unknown	Het
Chat	C	T	14: 32,423,256		probably null	Het
Clasp2	A	G	9: 113,876,353		probably null	Het
Cldn9	T	C	17: 23,683,015	D212G	probably benign	Het
Cp	G	A	3: 19,964,532		probably null	Het
Cyfip1	T	A	7: 55,926,400	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,797,734	D4060G	probably damaging	Het
Dpyd	A	G	3: 119,064,921	T595A	probably damaging	Het
Fasl	A	G	1: 161,787,988	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,849,727	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,473,214	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,914,357	N102S	probably damaging	Het
Gm2381	T	C	7: 42,822,380	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,161,313	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,187,345	K269N	probably damaging	Het
Icosl	C	A	10: 78,073,873	Y217*	probably null	Het
Il17rd	G	T	14: 27,087,546	R153L	probably benign	Het
Kif17	C	A	4: 138,298,306	T973K	possibly damaging	Het
Klk1b16	A	G	7: 44,141,483	I236M	probably benign	Het
Lgmn	G	A	12: 102,423,739		probably benign	Het
Lmbr1l	T	C	15: 98,913,587	D54G	possibly damaging	Het
Lrrc49	A	T	9: 60,677,191	I196N	possibly damaging	Het
Maml1	C	T	11: 50,266,449	A300T	possibly damaging	Het
Mapkap1	A	T	2: 34,533,817	Q293L	possibly damaging	Het
Mki67	T	C	7: 135,713,839	T69A	probably benign	Het
Mlph	G	A	1: 90,921,983		probably null	Het
Myh1	A	T	11: 67,220,609	M1625L	probably benign	Het
Myh3	G	T	11: 67,091,021	R781L	probably benign	Het
Nckap5	A	T	1: 126,026,049	I922K	probably benign	Het
Nlrp5	T	A	7: 23,417,634	M261K	probably damaging	Het
Olfr1317	A	T	2: 112,142,169	S75C	possibly damaging	Het
Olfr312	T	A	11: 58,831,924	Y257N	probably damaging	Het
Olfr396-ps1	G	A	11: 73,928,837	M204I	probably benign	Het
Olfr965	A	G	9: 39,719,610	N128D	probably benign	Het
Pak1	T	A	7: 97,888,972	V262E	probably benign	Het
Pigw	A	T	11: 84,877,104	D466E	probably damaging	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,333,116		probably benign	Het
Rfx1	A	G	8: 84,073,756		probably benign	Het
Rfx7	A	G	9: 72,593,357	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,200,719	D226E	probably benign	Het
Sgk3	G	A	1: 9,884,476	A271T	possibly damaging	Het
Sh2d5	T	A	4: 138,256,839	C173S	probably benign	Het
Skint8	T	C	4: 111,939,572	V291A	probably benign	Het
Slc22a27	T	A	19: 7,926,689	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,116,435	V449I	probably benign	Het
Slc39a9	T	C	12: 80,679,542	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,036,128	H495Y	probably damaging	Het
Stab2	G	A	10: 86,969,185	Q310*	probably null	Het
Supt16	C	A	14: 52,171,491	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,236,177	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,548,859	T565M	unknown	Het
Tll1	G	A	8: 64,025,142	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,969,631	T232I	possibly damaging	Het
Tmem2	C	A	19: 21,826,145	Y847*	probably null	Het
Trim65	T	G	11: 116,128,290	D141A	probably benign	Het
Trim80	T	C	11: 115,441,216	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,873,217	I83N	probably benign	Het
Vnn3	G	A	10: 23,851,908	G72D	probably benign	Het
Wasl	G	T	6: 24,619,687	P278Q	unknown	Het
Wdr62	A	T	7: 30,243,917	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,723,833	T663I	unknown	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
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
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'- AGCATCCACTGAGAGCAGAC -3'
(R):5'- CCATGCAGAGAAACTTGGAAGC -3'

Sequencing Primer
(F):5'- AGACGTGGTGGATCCTTACCTC -3'
(R):5'- CATACTGCCGGGTAGAATTGCTC -3'

Posted On

2019-09-13