Mutagenetix > Incidental Mutation

Incidental Mutation 'R7784:Eps8'

599434

Institutional Source

Beutler Lab

Gene Symbol

Eps8

Ensembl Gene

ENSMUSG00000015766

Gene Name

epidermal growth factor receptor pathway substrate 8

Synonyms

MMRRC Submission

045840-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137477245-137654876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137499587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 605 (I605L)

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

probably benign
Transcript: ENSMUST00000058210
AA Change: I605L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: I605L

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 benign
Transcript: ENSMUST00000100841
AA Change: I605L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: I605L

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 benign
Transcript: ENSMUST00000111878
AA Change: I605L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: I605L

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 benign
Transcript: ENSMUST00000147526

SMART Domains

Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	possibly damaging	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
R7336:Eps8	UTSW	6	137509213	missense	possibly damaging	0.75
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'- GCAGTAACTTATTGCTGGACAC -3'
(R):5'- GTAAAAGTTGACCAGTGCGTG -3'

Sequencing Primer
(F):5'- GCTGGACACTTTAAGAGTTTCTTCAC -3'
(R):5'- ATGGGTTTCCTTATATCGATCGAGTC -3'

Posted On

2019-11-26