Mutagenetix > Incidental Mutation

Incidental Mutation 'RF057:Eps8'

605302

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 #

RF057 (G1)

Quality Score

203.459

Status

Not validated

Chromosome

Chromosomal Location

137454242-137626262 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

CGCTC to CGCTCGCTC at 137494062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000052776 (fasta)

Gene Model

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

AlphaFold

Q08509

PDB Structure

THE SH3 DOMAIN OF EPS8 EXISTS AS A NOVEL INTERTWINED DIMER [X-RAY DIFFRACTION]
EPS8 SH3 DOMAIN INTERTWINED DIMER [X-RAY DIFFRACTION]
EPS8 SH3 CLOSED MONOMER [X-RAY DIFFRACTION]

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: 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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.3%
20x: 98.6%

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: 26 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
6030445D17Rik	GCACATGCACACACA	GCACA	4: 136,189,617 (GRCm39)	probably null	Het
Alpk3	AAGGCACCGAC	A	7: 80,742,165 (GRCm39)	probably null	Het
Ankhd1	CGGC	CGGCGGTGGC	18: 36,693,982 (GRCm39)	probably benign	Het
Calhm1	GCTGTGGC	GCTGTGGCTGTGTCTGTGGC	19: 47,129,709 (GRCm39)	probably benign	Het
Crtam	TTCTTGATCTGAA	T	9: 40,895,650 (GRCm39)	probably null	Het
Cul9	CCT	CCTACT	17: 46,811,789 (GRCm39)	probably null	Het
Dmkn	GAAGTGGTGGAAGTGGTGG	GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG	7: 30,466,613 (GRCm39)	probably benign	Het
Efhd2	CGCCG	CGCCGAAGCCG	4: 141,602,080 (GRCm39)	probably benign	Het
Garin5a	GGAGGA	GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA	7: 44,149,956 (GRCm39)	probably null	Het
Gm16519	AAGCAG	AAGCAGCAG	17: 71,236,326 (GRCm39)	probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,277,025 (GRCm39)	probably benign	Het
Lypd8	CCAACA	CCAACAGTTCCCTCGCCTCTGTTACCCCACAAATCAACAACA	11: 58,281,065 (GRCm39)	probably benign	Het
Mapk6	CCCCA	CCCCATCCCA	9: 75,295,540 (GRCm39)	probably null	Het
Med12l	GCA	GCATCA	3: 59,183,401 (GRCm39)	probably benign	Het
Morn4	GTCAGGCAGTGA	GTCAGGCAGTGACTCAGGCAGTGA	19: 42,064,545 (GRCm39)	probably null	Het
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGGTTTTGTTTT	4: 134,006,679 (GRCm39)	probably null	Het
Prp2	CACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCA	C	6: 132,577,493 (GRCm39)	probably null	Het
Rtbdn	GCAGCG	GCAGCGACAGCG	8: 85,682,795 (GRCm39)	probably benign	Het
Tcof1	TTTCCCAGAGATCCCCTTGGC	TTTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACCTTCCCAGAGATCCCCTTGGC	18: 60,966,636 (GRCm39)	probably benign	Het
Tcof1	GAGATCCCCTTGGC	GAGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCATAGATCCCCTTGGC	18: 60,966,643 (GRCm39)	probably benign	Het
Tcof1	TCCCAGAGATCCCCTTGGC	TCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTTGCCCAGAGATCCCCTTGGC	18: 60,966,638 (GRCm39)	probably benign	Het
Tcof1	TTCCCAGAGATCCCCTTGGC	TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTGTCCCAGAGATCCCCTTGGC	18: 60,966,637 (GRCm39)	probably benign	Het
Tgoln1	CAGAAT	CAGAATCACCTCCCGTGGGCTTGCGAGAAT	6: 72,593,052 (GRCm39)	probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	15: 72,673,144 (GRCm39)	probably benign	Het
Ttn	ACCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTC	2: 76,673,734 (GRCm39)	probably benign	Het
Zfp384	C	CCCAGGCCCAGGG	6: 125,013,459 (GRCm39)	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
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
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	137,467,289 (GRCm39)	missense	possibly damaging	0.91
R5197:Eps8	UTSW	6	137,467,288 (GRCm39)	missense	probably damaging	0.97
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
Z1177:Eps8	UTSW	6	137,476,579 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGAACCTTACTCACCTGCAG -3'
(R):5'- CAGCTAGAACCAAATTACTTATGCC -3'

Sequencing Primer
(F):5'- AACCTTACTCACCTGCAGTCTGAC -3'
(R):5'- CCAAATTACTTATGCCTTTGTTTCAC -3'

Posted On

2019-12-04