Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Eps8'

380171

Institutional Source

Beutler Lab

Gene Symbol

Eps8

Ensembl Gene

ENSMUSG00000015766

Gene Name

epidermal growth factor receptor pathway substrate 8

Synonyms

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

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

Stock #

R4860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137454242-137626262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137491293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 362 (F362L)

Ref Sequence

ENSEMBL: ENSMUSP00000107509 (fasta)

Gene Model

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

AlphaFold

Q08509

Predicted Effect

probably damaging
Transcript: ENSMUST00000058210
AA Change: F362L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: F362L

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 damaging
Transcript: ENSMUST00000100841
AA Change: F362L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: F362L

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 damaging
Transcript: ENSMUST00000111878
AA Change: F362L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: F362L

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

noncoding transcript
Transcript: ENSMUST00000130274
AA Change: F137L

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

possibly damaging
Transcript: ENSMUST00000147526
AA Change: F362L

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: F362L

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

Meta Mutation Damage Score

0.4981

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

94% (98/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akap9	G	A	5: 4,084,916 (GRCm39)		probably benign	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dnd1	C	T	18: 36,899,016 (GRCm39)		probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Grm6	C	T	11: 50,755,439 (GRCm39)	T857M	probably benign	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Ilkap	A	G	1: 91,315,105 (GRCm39)		probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl22	G	A	16: 17,594,880 (GRCm39)		silent	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Krr1	C	T	10: 111,821,596 (GRCm39)		probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nsmce4a	A	T	7: 130,135,321 (GRCm39)		probably benign	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pik3r6	T	A	11: 68,434,879 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Snapc3	C	T	4: 83,383,134 (GRCm39)		probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tango2	A	G	16: 18,128,765 (GRCm39)		silent	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ulk4	G	A	9: 121,079,968 (GRCm39)	T497M	possibly damaging	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp384	G	A	6: 125,007,893 (GRCm39)		silent	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	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
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
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'- GTGAGGTGTGCGTCAAACTTC -3'
(R):5'- GCGTGCATGACAAAGAGTTG -3'

Sequencing Primer
(F):5'- GAGGTGTGCGTCAAACTTCACATTC -3'
(R):5'- ATGGAGCCTCTCTCTAAGGAG -3'

Posted On

2016-04-15