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: 0.370) question?

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137454242-137626262 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 137499277 bp (GRCm39)

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
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adam4	T	C	12: 81,466,333 (GRCm39)	I763V	probably benign	Het
Aipl1	T	G	11: 71,921,325 (GRCm39)	K190T	possibly damaging	Het
Alms1	T	A	6: 85,655,485 (GRCm39)	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,027,136 (GRCm39)	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,338,444 (GRCm39)	S365R	probably benign	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Apc	T	A	18: 34,450,130 (GRCm39)	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,822,098 (GRCm39)	V501I	probably benign	Het
Baz2b	T	C	2: 59,732,163 (GRCm39)	E1994G	probably benign	Het
Bltp2	G	T	11: 78,178,576 (GRCm39)	V1993F	probably damaging	Het
Cacna1a	T	C	8: 85,307,986 (GRCm39)		probably null	Het
Cacna1h	C	A	17: 25,611,050 (GRCm39)	V583L	probably benign	Het
Cd55	T	C	1: 130,375,346 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,937,494 (GRCm39)	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,798,237 (GRCm39)	D1674V	probably benign	Het
Churc1	T	C	12: 76,820,071 (GRCm39)	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,986,604 (GRCm39)	I280T	probably benign	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Cyp2b9	A	G	7: 25,900,208 (GRCm39)	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813 (GRCm39)	R51G	probably damaging	Het
Ddb1	T	C	19: 10,603,957 (GRCm39)	V888A	probably damaging	Het
Disp1	A	G	1: 182,870,564 (GRCm39)	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,438,402 (GRCm39)	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,394,164 (GRCm39)	T143A	possibly damaging	Het
Ercc5	T	A	1: 44,220,035 (GRCm39)	S1102R	probably benign	Het
Ergic2	T	A	6: 148,091,079 (GRCm39)	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,362,560 (GRCm39)	L274M	probably damaging	Het
Fat3	G	A	9: 15,909,384 (GRCm39)	T2206I	probably damaging	Het
Fat4	A	G	3: 39,037,720 (GRCm39)	I3791V	probably benign	Het
Gemin4	A	G	11: 76,104,122 (GRCm39)	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,025,723 (GRCm39)	M119V	probably benign	Het
Heatr5b	A	T	17: 79,080,992 (GRCm39)	L1420Q	probably damaging	Het
Herc2	G	T	7: 55,856,513 (GRCm39)	G3918*	probably null	Het
Ints9	A	G	14: 65,269,705 (GRCm39)	Y465C	probably damaging	Het
Ist1	A	G	8: 110,405,515 (GRCm39)	V175A	probably damaging	Het
Kcnj12	T	C	11: 60,960,383 (GRCm39)	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,536,611 (GRCm39)	S416G	probably benign	Het
Kdm3a	T	A	6: 71,590,940 (GRCm39)	T295S	probably benign	Het
Kif1c	T	A	11: 70,599,797 (GRCm39)	M479K	probably damaging	Het
Kif20b	T	C	19: 34,933,438 (GRCm39)	L83P	probably damaging	Het
Kndc1	A	G	7: 139,507,624 (GRCm39)	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,595,556 (GRCm39)	M81V	probably benign	Het
Map4k5	C	A	12: 69,871,436 (GRCm39)	M495I	probably damaging	Het
Mest	C	T	6: 30,742,790 (GRCm39)	R146C	probably benign	Het
Mettl24	T	A	10: 40,613,812 (GRCm39)		probably null	Het
Mical1	T	C	10: 41,359,531 (GRCm39)	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,239,694 (GRCm39)	Y77*	probably null	Het
Mss51	A	T	14: 20,533,246 (GRCm39)	C408*	probably null	Het
Myh6	T	C	14: 55,194,858 (GRCm39)	T666A	probably benign	Het
Myo10	T	C	15: 25,805,673 (GRCm39)	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,359,726 (GRCm39)	Y503*	probably null	Het
Neil1	A	C	9: 57,053,888 (GRCm39)	F144C	probably damaging	Het
Nipbl	T	A	15: 8,373,001 (GRCm39)	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nt5el	C	A	13: 105,218,702 (GRCm39)	A12E	unknown	Het
Ntng2	G	A	2: 29,087,069 (GRCm39)	Q384*	probably null	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or10j27	A	G	1: 172,958,382 (GRCm39)	V134A	probably benign	Het
Or13a22	A	G	7: 140,072,622 (GRCm39)	S24G	probably benign	Het
Or14j8	C	T	17: 38,263,276 (GRCm39)	G213E	possibly damaging	Het
Or1e22	A	C	11: 73,377,200 (GRCm39)	V150G	probably benign	Het
Or2j3	A	T	17: 38,616,203 (GRCm39)	S50T	probably benign	Het
Or2y1	A	T	11: 49,385,497 (GRCm39)	I46F	probably damaging	Het
Patj	A	G	4: 98,379,827 (GRCm39)	D151G	probably benign	Het
Plpbp	T	C	8: 27,539,259 (GRCm39)	V126A	probably damaging	Het
Pold2	A	G	11: 5,823,454 (GRCm39)	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,486,650 (GRCm39)	S480A	probably damaging	Het
Pum1	T	C	4: 130,428,359 (GRCm39)	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,014,925 (GRCm39)	G353A	probably damaging	Het
Reln	C	A	5: 22,184,000 (GRCm39)	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,266,071 (GRCm39)	I9V	probably benign	Het
Ryr2	T	C	13: 11,784,764 (GRCm39)	H1063R	probably benign	Het
Samd14	C	G	11: 94,914,426 (GRCm39)	D361E	probably damaging	Het
Samd15	A	T	12: 87,248,617 (GRCm39)	N365I	probably damaging	Het
Sec16b	A	G	1: 157,358,882 (GRCm39)	H105R	probably benign	Het
Sez6	T	C	11: 77,844,329 (GRCm39)	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,789,350 (GRCm39)	L236Q	probably damaging	Het
Sspo	C	T	6: 48,434,274 (GRCm39)	T991I	probably damaging	Het
Suco	A	T	1: 161,687,069 (GRCm39)	L97*	probably null	Het
Tab1	C	A	15: 80,032,497 (GRCm39)	R35S	probably benign	Het
Tet3	C	A	6: 83,381,145 (GRCm39)	S341I	possibly damaging	Het
Tlr1	A	T	5: 65,083,043 (GRCm39)	D511E	probably benign	Het
Tmem132b	A	C	5: 125,862,963 (GRCm39)	D656A	probably damaging	Het
Tmtc4	T	A	14: 123,179,400 (GRCm39)		probably null	Het
Trmo	T	C	4: 46,380,158 (GRCm39)	T404A	probably damaging	Het
Trpm1	A	G	7: 63,880,016 (GRCm39)	K790E	probably damaging	Het
Ulk4	C	A	9: 120,997,250 (GRCm39)	R774M	probably null	Het
Ush2a	C	T	1: 188,184,015 (GRCm39)	L1440F	probably benign	Het
Usp16	A	G	16: 87,277,795 (GRCm39)	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511 (GRCm39)	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,565,111 (GRCm39)	I255N	probably damaging	Het
Vmn2r61	A	T	7: 41,916,076 (GRCm39)	R230*	probably null	Het
Vps13c	T	A	9: 67,900,295 (GRCm39)	F3671L	probably benign	Het
Washc5	T	C	15: 59,231,189 (GRCm39)	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,058,899 (GRCm39)	K331E	probably damaging	Het
Zfp986	A	T	4: 145,625,805 (GRCm39)	K155I	probably benign	Het

Other mutations in Eps8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Eps8	APN	6	137,482,477 (GRCm39)	missense	probably benign	0.00
IGL00499:Eps8	APN	6	137,499,886 (GRCm39)	nonsense	probably null
IGL01587:Eps8	APN	6	137,491,711 (GRCm39)	missense	probably damaging	1.00
IGL01789:Eps8	APN	6	137,516,364 (GRCm39)	missense	probably benign	0.01
IGL01836:Eps8	APN	6	137,460,539 (GRCm39)	critical splice donor site	probably null
IGL01951:Eps8	APN	6	137,514,669 (GRCm39)	missense	possibly damaging	0.66
IGL02478:Eps8	APN	6	137,499,840 (GRCm39)	missense	probably benign	0.05
IGL02546:Eps8	APN	6	137,456,064 (GRCm39)	missense	probably benign	0.30
IGL02861:Eps8	APN	6	137,476,597 (GRCm39)	missense	probably damaging	1.00
IGL03115:Eps8	APN	6	137,504,379 (GRCm39)	missense	probably damaging	1.00
IGL03355:Eps8	APN	6	137,489,143 (GRCm39)	splice site	probably benign
FR4589:Eps8	UTSW	6	137,494,067 (GRCm39)	frame shift	probably null
R0113:Eps8	UTSW	6	137,514,682 (GRCm39)	missense	possibly damaging	0.87
R0245:Eps8	UTSW	6	137,456,126 (GRCm39)	missense	probably benign	0.01
R0462:Eps8	UTSW	6	137,491,309 (GRCm39)	missense	probably benign	0.00
R0905:Eps8	UTSW	6	137,491,305 (GRCm39)	missense	probably benign	0.23
R1106:Eps8	UTSW	6	137,491,322 (GRCm39)	missense	probably damaging	1.00
R1178:Eps8	UTSW	6	137,499,852 (GRCm39)	missense	possibly damaging	0.46
R1181:Eps8	UTSW	6	137,499,852 (GRCm39)	missense	possibly damaging	0.46
R1448:Eps8	UTSW	6	137,499,852 (GRCm39)	missense	possibly damaging	0.46
R1612:Eps8	UTSW	6	137,477,616 (GRCm39)	missense	probably benign	0.00
R2068:Eps8	UTSW	6	137,499,172 (GRCm39)	missense	probably benign	0.13
R2113:Eps8	UTSW	6	137,514,633 (GRCm39)	splice site	probably null
R2943:Eps8	UTSW	6	137,499,870 (GRCm39)	missense	probably damaging	1.00
R3032:Eps8	UTSW	6	137,489,175 (GRCm39)	missense	probably damaging	0.96
R3879:Eps8	UTSW	6	137,504,360 (GRCm39)	splice site	probably benign
R3973:Eps8	UTSW	6	137,486,153 (GRCm39)	missense	probably benign	0.00
R4199:Eps8	UTSW	6	137,491,325 (GRCm39)	missense	probably damaging	0.96
R4384:Eps8	UTSW	6	137,476,590 (GRCm39)	missense	probably benign	0.30
R4728:Eps8	UTSW	6	137,486,160 (GRCm39)	nonsense	probably null
R4840:Eps8	UTSW	6	137,504,128 (GRCm39)	missense	probably damaging	1.00
R4860:Eps8	UTSW	6	137,491,293 (GRCm39)	missense	probably damaging	0.97
R4860:Eps8	UTSW	6	137,491,293 (GRCm39)	missense	probably damaging	0.97
R4864:Eps8	UTSW	6	137,455,967 (GRCm39)	utr 3 prime	probably benign
R5197:Eps8	UTSW	6	137,467,288 (GRCm39)	missense	probably damaging	0.97
R5197:Eps8	UTSW	6	137,467,289 (GRCm39)	missense	possibly damaging	0.91
R5214:Eps8	UTSW	6	137,504,490 (GRCm39)	missense	probably damaging	0.99
R5457:Eps8	UTSW	6	137,489,175 (GRCm39)	missense	probably damaging	0.96
R5464:Eps8	UTSW	6	137,504,473 (GRCm39)	missense	probably damaging	1.00
R5557:Eps8	UTSW	6	137,456,094 (GRCm39)	missense	possibly damaging	0.90
R5981:Eps8	UTSW	6	137,459,208 (GRCm39)	missense	probably damaging	0.98
R6150:Eps8	UTSW	6	137,494,172 (GRCm39)	missense	probably damaging	1.00
R6473:Eps8	UTSW	6	137,456,096 (GRCm39)	missense	probably damaging	1.00
R6529:Eps8	UTSW	6	137,491,335 (GRCm39)	missense	possibly damaging	0.92
R6574:Eps8	UTSW	6	137,460,596 (GRCm39)	nonsense	probably null
R6890:Eps8	UTSW	6	137,489,255 (GRCm39)	missense	probably damaging	0.99
R7180:Eps8	UTSW	6	137,456,072 (GRCm39)	missense	possibly damaging	0.78
R7229:Eps8	UTSW	6	137,516,354 (GRCm39)	missense	probably benign
R7314:Eps8	UTSW	6	137,504,090 (GRCm39)	missense	possibly damaging	0.51
R7336:Eps8	UTSW	6	137,486,211 (GRCm39)	missense	possibly damaging	0.75
R7784:Eps8	UTSW	6	137,476,585 (GRCm39)	missense	probably benign	0.01
R7942:Eps8	UTSW	6	137,507,575 (GRCm39)	missense	possibly damaging	0.53
R7988:Eps8	UTSW	6	137,505,569 (GRCm39)	missense	possibly damaging	0.95
R7989:Eps8	UTSW	6	137,505,569 (GRCm39)	missense	possibly damaging	0.95
R7991:Eps8	UTSW	6	137,505,569 (GRCm39)	missense	possibly damaging	0.95
R8235:Eps8	UTSW	6	137,460,576 (GRCm39)	missense	possibly damaging	0.62
R8262:Eps8	UTSW	6	137,459,252 (GRCm39)	missense	probably benign	0.10
R8834:Eps8	UTSW	6	137,504,306 (GRCm39)	intron	probably benign
R8902:Eps8	UTSW	6	137,489,175 (GRCm39)	missense	probably damaging	1.00
R9081:Eps8	UTSW	6	137,504,415 (GRCm39)	missense	probably benign	0.02
R9225:Eps8	UTSW	6	137,507,561 (GRCm39)	missense	probably benign	0.18
RF025:Eps8	UTSW	6	137,494,064 (GRCm39)	critical splice donor site	probably benign
RF028:Eps8	UTSW	6	137,494,061 (GRCm39)	critical splice donor site	probably benign
RF035:Eps8	UTSW	6	137,494,068 (GRCm39)	frame shift	probably null
RF039:Eps8	UTSW	6	137,494,068 (GRCm39)	frame shift	probably null
RF046:Eps8	UTSW	6	137,494,061 (GRCm39)	critical splice donor site	probably benign
RF057:Eps8	UTSW	6	137,494,062 (GRCm39)	critical splice donor site	probably benign
Z1177:Eps8	UTSW	6	137,476,579 (GRCm39)	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