Incidental Mutation 'R7314:Eps8'
ID 567822
Institutional Source Beutler Lab
Gene Symbol Eps8
Ensembl Gene ENSMUSG00000015766
Gene Name epidermal growth factor receptor pathway substrate 8
Synonyms
MMRRC Submission 045412-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.370) question?
Stock # R7314 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 137454242-137626262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137504090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 171 (V171A)
Ref Sequence ENSEMBL: ENSMUSP00000052776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058210] [ENSMUST00000100841] [ENSMUST00000111878] [ENSMUST00000132920] [ENSMUST00000146442] [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 possibly damaging
Transcript: ENSMUST00000058210
AA Change: V171A

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: V171A

DomainStartEndE-ValueType
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: V171A

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: V171A

DomainStartEndE-ValueType
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: V171A

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: V171A

DomainStartEndE-ValueType
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: ENSMUST00000132920
AA Change: V188A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122517
Gene: ENSMUSG00000015766
AA Change: V188A

DomainStartEndE-ValueType
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: V171A

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119997
Gene: ENSMUSG00000015766
AA Change: V171A

DomainStartEndE-ValueType
PTB 60 188 3.18e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000147526
AA Change: V171A

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: V171A

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.6535 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik G A 7: 29,989,320 (GRCm39) V177I unknown Het
4930596D02Rik A G 14: 35,533,606 (GRCm39) V54A probably benign Het
Abcc10 C A 17: 46,626,330 (GRCm39) A704S probably damaging Het
Adss2 A G 1: 177,595,317 (GRCm39) W408R probably damaging Het
Aplp1 T C 7: 30,135,414 (GRCm39) E548G probably damaging Het
C4b C T 17: 34,959,330 (GRCm39) V415I probably benign Het
Celsr3 T C 9: 108,706,343 (GRCm39) V942A probably damaging Het
Cstf1 A G 2: 172,214,954 (GRCm39) D25G probably damaging Het
Dnah14 A T 1: 181,612,819 (GRCm39) probably null Het
Dnah9 G A 11: 65,880,677 (GRCm39) T2640I probably benign Het
Dnase2b T C 3: 146,288,151 (GRCm39) I315V probably damaging Het
Endod1 T C 9: 14,268,295 (GRCm39) S397G probably benign Het
Ghdc T C 11: 100,659,928 (GRCm39) E273G probably damaging Het
Hmgn2-ps C T 8: 73,058,839 (GRCm39) G63R probably damaging Het
Hspbap1 T A 16: 35,645,541 (GRCm39) S409T probably benign Het
Ireb2 T C 9: 54,799,794 (GRCm39) Y412H probably damaging Het
Jph4 TCCATTCTCGTATACCCCA TCCA 14: 55,347,196 (GRCm39) probably benign Het
Klhl6 A G 16: 19,775,755 (GRCm39) Y268H probably damaging Het
Krt16 T C 11: 100,138,695 (GRCm39) D197G probably damaging Het
Lca5 T C 9: 83,277,563 (GRCm39) K594E possibly damaging Het
Lgi3 T C 14: 70,769,552 (GRCm39) F84S probably damaging Het
Lingo3 T C 10: 80,670,707 (GRCm39) I408V possibly damaging Het
Map3k7 G T 4: 31,985,769 (GRCm39) E231* probably null Het
Nrip1 A G 16: 76,088,078 (GRCm39) S1160P probably benign Het
Oas1g A T 5: 121,016,526 (GRCm39) L301Q probably damaging Het
Obox3 T A 7: 15,361,079 (GRCm39) Q62L possibly damaging Het
Or5d37 A G 2: 87,923,458 (GRCm39) L274P probably benign Het
Or6b13 A T 7: 139,782,326 (GRCm39) V119D probably damaging Het
Parp8 G T 13: 117,004,996 (GRCm39) F727L probably benign Het
Pcdha1 T C 18: 37,064,553 (GRCm39) Y406H probably damaging Het
Pcdhgb8 A G 18: 37,896,052 (GRCm39) D374G probably damaging Het
Pdzd8 A T 19: 59,289,783 (GRCm39) L539* probably null Het
Phkb A G 8: 86,669,021 (GRCm39) probably null Het
Ppp1r13b T C 12: 111,812,790 (GRCm39) E143G probably damaging Het
Rpap2 T C 5: 107,768,245 (GRCm39) V361A probably damaging Het
Setd4 T C 16: 93,384,711 (GRCm39) T326A probably benign Het
Smad9 A G 3: 54,696,744 (GRCm39) N270D probably benign Het
Sntg2 A G 12: 30,317,107 (GRCm39) S172P probably benign Het
Tecpr1 A G 5: 144,154,150 (GRCm39) L101P probably damaging Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tmprss11f T C 5: 86,671,912 (GRCm39) T427A possibly damaging Het
Trhr2 A G 8: 123,085,489 (GRCm39) V165A possibly damaging Het
Ubr3 T A 2: 69,821,944 (GRCm39) L1402Q probably damaging Het
Vps13c T A 9: 67,850,622 (GRCm39) probably null Het
Zfp369 T C 13: 65,439,918 (GRCm39) S201P probably damaging Het
Other mutations in Eps8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATTGCTCTAGAGGGTTGAGC -3'
(R):5'- ACAAGTGATGGTTTGACACTGTC -3'

Sequencing Primer
(F):5'- CAGGGACCTGAGATTTGCCTAG -3'
(R):5'- CATGCAGCTATGACTCCA -3'
Posted On 2019-06-26