Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Eps8'

205162

Institutional Source

Beutler Lab

Gene Symbol

Eps8

Ensembl Gene

ENSMUSG00000015766

Gene Name

epidermal growth factor receptor pathway substrate 8

Synonyms

MMRRC Submission

039862-MU

Accession Numbers

Essential gene?

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

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137477245-137654876 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 137522279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 204 (K204*)

Ref Sequence

ENSEMBL: ENSMUSP00000120044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058210] [ENSMUST00000100841] [ENSMUST00000111878] [ENSMUST00000132920] [ENSMUST00000146442] [ENSMUST00000147526]

AlphaFold

Q08509

Predicted Effect

probably null
Transcript: ENSMUST00000058210
AA Change: K204*

SMART Domains

Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: K204*

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 null
Transcript: ENSMUST00000100841
AA Change: K204*

SMART Domains

Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: K204*

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 null
Transcript: ENSMUST00000111878
AA Change: K204*

SMART Domains

Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: K204*

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

probably null
Transcript: ENSMUST00000132920
AA Change: K221*

SMART Domains

Protein: ENSMUSP00000122517
Gene: ENSMUSG00000015766
AA Change: K221*

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

probably benign
Transcript: ENSMUST00000146442

SMART Domains

Protein: ENSMUSP00000119997
Gene: ENSMUSG00000015766

Domain	Start	End	E-Value	Type
PTB	60	188	3.18e-25	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000147526
AA Change: K204*

SMART Domains

Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: K204*

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	T	11: 78,287,750	V1993F	probably damaging	Het
4933425L06Rik	C	A	13: 105,082,194	A12E	unknown	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adam4	T	C	12: 81,419,559	I763V	probably benign	Het
Aipl1	T	G	11: 72,030,499	K190T	possibly damaging	Het
Alms1	T	A	6: 85,678,503	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,099,414	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,447,618	S365R	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Apc	T	A	18: 34,317,077	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,778,883	V501I	probably benign	Het
Baz2b	T	C	2: 59,901,819	E1994G	probably benign	Het
Cacna1a	T	C	8: 84,581,357		probably null	Het
Cacna1h	C	A	17: 25,392,076	V583L	probably benign	Het
Cd55	T	C	1: 130,447,609		probably benign	Het
Cep192	T	A	18: 67,804,424	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,962,375	D1674V	probably benign	Het
Churc1	T	C	12: 76,773,297	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,848,543	I280T	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cyp2b9	A	G	7: 26,200,783	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813	R51G	probably damaging	Het
Ddb1	T	C	19: 10,626,593	V888A	probably damaging	Het
Disp1	A	G	1: 183,089,000	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,388,334	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,482,868	T143A	possibly damaging	Het
Ercc5	T	A	1: 44,180,875	S1102R	probably benign	Het
Ergic2	T	A	6: 148,189,581	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,490,711	L274M	probably damaging	Het
Fat3	G	A	9: 15,998,088	T2206I	probably damaging	Het
Fat4	A	G	3: 38,983,571	I3791V	probably benign	Het
Gemin4	A	G	11: 76,213,296	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,118,407	M119V	probably benign	Het
Heatr5b	A	T	17: 78,773,563	L1420Q	probably damaging	Het
Herc2	G	T	7: 56,206,765	G3918*	probably null	Het
Ints9	A	G	14: 65,032,256	Y465C	probably damaging	Het
Ist1	A	G	8: 109,678,883	V175A	probably damaging	Het
Kcnj12	T	C	11: 61,069,557	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,466,387	S416G	probably benign	Het
Kdm3a	T	A	6: 71,613,956	T295S	probably benign	Het
Kif1c	T	A	11: 70,708,971	M479K	probably damaging	Het
Kif20b	T	C	19: 34,956,038	L83P	probably damaging	Het
Kndc1	A	G	7: 139,927,711	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,704,730	M81V	probably benign	Het
Map4k5	C	A	12: 69,824,662	M495I	probably damaging	Het
Mest	C	T	6: 30,742,791	R146C	probably benign	Het
Mettl24	T	A	10: 40,737,816		probably null	Het
Mical1	T	C	10: 41,483,535	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,589,946	Y77*	probably null	Het
Mss51	A	T	14: 20,483,178	C408*	probably null	Het
Myh6	T	C	14: 54,957,401	T666A	probably benign	Het
Myo10	T	C	15: 25,805,587	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,223,218	Y503*	probably null	Het
Neil1	A	C	9: 57,146,604	F144C	probably damaging	Het
Nipbl	T	A	15: 8,343,517	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732	V7A	probably damaging	Het
Ntng2	G	A	2: 29,197,057	Q384*	probably null	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr137	A	T	17: 38,305,312	S50T	probably benign	Het
Olfr1385	A	T	11: 49,494,670	I46F	probably damaging	Het
Olfr1408	A	G	1: 173,130,815	V134A	probably benign	Het
Olfr381	A	C	11: 73,486,374	V150G	probably benign	Het
Olfr535	A	G	7: 140,492,709	S24G	probably benign	Het
Olfr761	C	T	17: 37,952,385	G213E	possibly damaging	Het
Patj	A	G	4: 98,491,590	D151G	probably benign	Het
Plpbp	T	C	8: 27,049,231	V126A	probably damaging	Het
Pold2	A	G	11: 5,873,454	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,483,651	S480A	probably damaging	Het
Pum1	T	C	4: 130,701,048	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,179,091	G353A	probably damaging	Het
Reln	C	A	5: 21,979,002	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,265,925	I9V	probably benign	Het
Ryr2	T	C	13: 11,769,878	H1063R	probably benign	Het
Samd14	C	G	11: 95,023,600	D361E	probably damaging	Het
Samd15	A	T	12: 87,201,843	N365I	probably damaging	Het
Sec16b	A	G	1: 157,531,312	H105R	probably benign	Het
Sez6	T	C	11: 77,953,503	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,905,150	L236Q	probably damaging	Het
Sspo	C	T	6: 48,457,340	T991I	probably damaging	Het
Suco	A	T	1: 161,859,500	L97*	probably null	Het
Tab1	C	A	15: 80,148,296	R35S	probably benign	Het
Tet3	C	A	6: 83,404,163	S341I	possibly damaging	Het
Tlr1	A	T	5: 64,925,700	D511E	probably benign	Het
Tmem132b	A	C	5: 125,785,899	D656A	probably damaging	Het
Tmtc4	T	A	14: 122,941,988		probably null	Het
Trmo	T	C	4: 46,380,158	T404A	probably damaging	Het
Trpm1	A	G	7: 64,230,268	K790E	probably damaging	Het
Ulk4	C	A	9: 121,168,184	R774M	probably null	Het
Ush2a	C	T	1: 188,451,818	L1440F	probably benign	Het
Usp16	A	G	16: 87,480,907	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,865,686	I255N	probably damaging	Het
Vmn2r61	A	T	7: 42,266,652	R230*	probably null	Het
Vps13c	T	A	9: 67,993,013	F3671L	probably benign	Het
Washc5	T	C	15: 59,359,340	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,151,617	K331E	probably damaging	Het
Zfp986	A	T	4: 145,899,235	K155I	probably benign	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
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
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'- CTTGAAAGGAGGACTGACACC -3'
(R):5'- AAATCAATGTTGCTTCCCAGG -3'

Sequencing Primer
(F):5'- CATAGCTCTCGTGGATGCTCAGAAG -3'
(R):5'- TTCTGTGTCTCAGGAACTTACCAG -3'

Posted On

2014-06-23