Incidental Mutation 'R5981:Eps8'
ID 481411
Institutional Source Beutler Lab
Gene Symbol Eps8
Ensembl Gene ENSMUSG00000015766
Gene Name epidermal growth factor receptor pathway substrate 8
Synonyms
MMRRC Submission 043250-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.370) question?
Stock # R5981 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 137454242-137626262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137459208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 765 (V765A)
Ref Sequence ENSEMBL: ENSMUSP00000107509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058210] [ENSMUST00000100841] [ENSMUST00000111878]
AlphaFold Q08509
Predicted Effect probably damaging
Transcript: ENSMUST00000058210
AA Change: V765A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: V765A

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 probably damaging
Transcript: ENSMUST00000100841
AA Change: V765A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: V765A

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 probably damaging
Transcript: ENSMUST00000111878
AA Change: V765A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: V765A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,659,299 (GRCm39) Y251H probably benign Het
Ccr3 G A 9: 123,828,820 (GRCm39) G52S probably damaging Het
Cep192 T C 18: 67,993,661 (GRCm39) L1992P probably damaging Het
Cnot1 T C 8: 96,515,293 (GRCm39) K23E probably damaging Het
Col12a1 G A 9: 79,585,788 (GRCm39) R1224C probably damaging Het
Cox7c A T 13: 86,194,780 (GRCm39) S5R possibly damaging Het
Frg1 T C 8: 41,863,307 (GRCm39) D104G possibly damaging Het
Gm11032 T C 11: 4,571,697 (GRCm39) V34A probably benign Het
Hid1 G A 11: 115,241,774 (GRCm39) T612I possibly damaging Het
Hivep1 C T 13: 42,313,664 (GRCm39) T1968I probably damaging Het
Mctp1 A G 13: 76,905,229 (GRCm39) D444G probably damaging Het
Ms4a1 T C 19: 11,229,180 (GRCm39) E242G probably benign Het
Mx1 T C 16: 97,255,405 (GRCm39) D216G probably damaging Het
Panx3 A G 9: 37,580,177 (GRCm39) S59P possibly damaging Het
Pcdhgb1 A G 18: 37,814,907 (GRCm39) D466G probably damaging Het
Plg T C 17: 12,597,605 (GRCm39) probably null Het
Prpf4b T C 13: 35,070,693 (GRCm39) S427P probably benign Het
Rbm44 T C 1: 91,080,411 (GRCm39) S166P possibly damaging Het
Recql A G 6: 142,318,604 (GRCm39) L213P probably damaging Het
Rwdd1 A G 10: 33,885,081 (GRCm39) Y60H probably damaging Het
Sult1b1 A C 5: 87,682,816 (GRCm39) I43R probably damaging Het
Trak2 A T 1: 58,947,849 (GRCm39) V597E probably benign Het
Usp17lb T A 7: 104,490,394 (GRCm39) I177F probably damaging Het
Zfp410 A G 12: 84,378,414 (GRCm39) E193G probably benign 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
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'- ACAGTTACTGATGGTATTTAGTGGC -3'
(R):5'- AAAGCTAGGCAGACCCAGTG -3'

Sequencing Primer
(F):5'- AGCTTTTAATTCATCTCTTCAGCGAG -3'
(R):5'- CTAGGCAGACCCAGTGAAAACTTG -3'
Posted On 2017-06-26