Mutagenetix > Incidental Mutation

Incidental Mutation 'R2943:Eps8'

255824

Institutional Source

Beutler Lab

Gene Symbol

Eps8

Ensembl Gene

ENSMUSG00000015766

Gene Name

epidermal growth factor receptor pathway substrate 8

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R2943 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137454242-137626262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137499870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 203 (D203G)

Ref Sequence

ENSEMBL: ENSMUSP00000122517 (fasta)

Gene Model

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

AlphaFold

Q08509

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058210
AA Change: D186G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: D186G

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

possibly damaging
Transcript: ENSMUST00000100841
AA Change: D186G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: D186G

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

possibly damaging
Transcript: ENSMUST00000111878
AA Change: D186G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: D186G

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 damaging
Transcript: ENSMUST00000132920
AA Change: D203G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122517
Gene: ENSMUSG00000015766
AA Change: D203G

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: ENSMUST00000146442
AA Change: D186G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119997
Gene: ENSMUSG00000015766
AA Change: D186G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000147526
AA Change: D186G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: D186G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153933

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anln	A	G	9: 22,267,342 (GRCm39)		probably null	Het
Aqp12	A	T	1: 92,934,387 (GRCm39)	D88V	probably damaging	Het
Armc5	A	C	7: 127,839,752 (GRCm39)	N357H	probably damaging	Het
Atad2b	C	A	12: 4,992,067 (GRCm39)	T222K	probably damaging	Het
Carmil2	C	T	8: 106,419,564 (GRCm39)	H815Y	probably benign	Het
Chrna9	T	C	5: 66,134,438 (GRCm39)	Y430H	probably damaging	Het
Eif1ad15	T	C	12: 88,288,004 (GRCm39)	D83G	probably benign	Het
Galnt6	G	T	15: 100,612,160 (GRCm39)		probably null	Het
Gsdmc	C	T	15: 63,675,501 (GRCm39)	V105I	possibly damaging	Het
Kntc1	A	G	5: 123,935,847 (GRCm39)	D1509G	possibly damaging	Het
Lrp10	C	T	14: 54,707,302 (GRCm39)		probably benign	Het
Mcmbp	A	T	7: 128,325,697 (GRCm39)	L97H	probably damaging	Het
Mfsd2a	A	G	4: 122,842,382 (GRCm39)	L495P	possibly damaging	Het
Or52s19	A	G	7: 103,007,658 (GRCm39)	C248R	probably damaging	Het
Pank4	G	A	4: 155,055,931 (GRCm39)	V319I	probably benign	Het
Pde7a	T	C	3: 19,284,489 (GRCm39)	N365D	probably damaging	Het
Pot1b	A	T	17: 55,981,058 (GRCm39)	S319T	probably benign	Het
Rbm25	T	C	12: 83,707,415 (GRCm39)	I276T	probably damaging	Het
Reg1	T	A	6: 78,405,128 (GRCm39)	L117Q	possibly damaging	Het
Ripor3	T	C	2: 167,825,681 (GRCm39)	H759R	possibly damaging	Het
Rph3al	A	T	11: 75,725,714 (GRCm39)		probably null	Het
S1pr4	A	C	10: 81,334,706 (GRCm39)	L256R	probably damaging	Het
Sstr4	T	C	2: 148,238,085 (GRCm39)	V232A	probably damaging	Het
Tor3a	G	A	1: 156,501,665 (GRCm39)	P71S	probably benign	Het
Zfp804a	C	A	2: 82,066,223 (GRCm39)	Q65K	probably 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
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'- CAACCAGAGCTTAAGTTGTGG -3'
(R):5'- AAATCAGCATGTGAGTTCCATC -3'

Sequencing Primer
(F):5'- CCAGAGCTTAAGTTGTGGTTAAAG -3'
(R):5'- ACGGTAGATGCTAAAAAGTCTTTC -3'

Posted On

2014-12-29