Mutagenetix > Incidental Mutation

Incidental Mutation 'R3879:Eps8'

308678

Institutional Source

Beutler Lab

Gene Symbol

Eps8

Ensembl Gene

ENSMUSG00000015766

Gene Name

epidermal growth factor receptor pathway substrate 8

Synonyms

MMRRC Submission

040793-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R3879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137454242-137626262 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 137504360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120044 (fasta)

Gene Model

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

AlphaFold

Q08509

Predicted Effect

probably benign
Transcript: ENSMUST00000058210

SMART Domains

Protein: ENSMUSP00000052776
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	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

SMART Domains

Protein: ENSMUSP00000098402
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	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

SMART Domains

Protein: ENSMUSP00000107509
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	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: 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

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 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153933

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (38/40)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,970,561 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,122,520 (GRCm39)	H68Y	probably damaging	Het
Abcc8	T	A	7: 45,754,051 (GRCm39)	K1588N	possibly damaging	Het
Calcoco1	T	C	15: 102,615,823 (GRCm39)	D601G	probably damaging	Het
Ccdc175	C	A	12: 72,182,792 (GRCm39)	R409I	probably damaging	Het
Ccnl1	A	G	3: 65,856,179 (GRCm39)	V242A	possibly damaging	Het
Clasp2	T	C	9: 113,719,029 (GRCm39)	F705L	probably damaging	Het
Cyp46a1	A	G	12: 108,324,389 (GRCm39)	T389A	probably benign	Het
Gm9894	T	C	13: 67,912,916 (GRCm39)		noncoding transcript	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Nup153	A	T	13: 46,837,436 (GRCm39)	V1262E	probably damaging	Het
Nup210l	A	G	3: 90,092,780 (GRCm39)	T1245A	probably damaging	Het
Or10ad1b	C	T	15: 98,125,085 (GRCm39)	C147Y	probably damaging	Het
Or5b121	A	G	19: 13,507,613 (GRCm39)	Y236C	probably damaging	Het
Pcif1	G	A	2: 164,727,878 (GRCm39)	G189D	probably benign	Het
Pdzd2	A	G	15: 12,375,594 (GRCm39)	S1514P	probably damaging	Het
Pigu	A	T	2: 155,141,063 (GRCm39)	F276I	probably damaging	Het
Pramex1	T	C	X: 134,514,194 (GRCm39)	H365R	probably benign	Het
Psmd9	C	T	5: 123,372,653 (GRCm39)		probably benign	Het
Rasgrp2	A	T	19: 6,463,920 (GRCm39)	Q539H	probably benign	Het
Rgs22	T	G	15: 36,107,051 (GRCm39)	I112L	possibly damaging	Het
Slc26a9	A	T	1: 131,696,969 (GRCm39)	T786S	probably benign	Het
Sned1	A	G	1: 93,192,752 (GRCm39)		probably benign	Het
St7l	G	A	3: 104,833,763 (GRCm39)	V475I	probably damaging	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Top3a	A	G	11: 60,634,765 (GRCm39)	V713A	possibly damaging	Het
Trim16	G	A	11: 62,731,433 (GRCm39)	G348S	probably damaging	Het
Tshz3	C	T	7: 36,470,962 (GRCm39)	Q984*	probably null	Het
Ttn	A	G	2: 76,566,406 (GRCm39)		probably null	Het
Ubfd1	T	A	7: 121,667,999 (GRCm39)		probably benign	Het
Zfp37	A	T	4: 62,109,572 (GRCm39)	Y497*	probably null	Het
Zfp462	G	A	4: 55,060,095 (GRCm39)	C1207Y	probably damaging	Het
Zfp607b	A	G	7: 27,403,476 (GRCm39)	E644G	possibly damaging	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
R1835:Eps8	UTSW	6	137,499,277 (GRCm39)	nonsense	probably null
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
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'- GTTGGCTCTTTGCATACCAAG -3'
(R):5'- TAAGCACTTGACCACCTTCG -3'

Sequencing Primer
(F):5'- TCTTTGCATACCAAGGCGAG -3'
(R):5'- ACCTTCGTGCTGGATCGGAAAG -3'

Posted On

2015-04-17