Incidental Mutation 'R5214:Eps8'
ID 403338
Institutional Source Beutler Lab
Gene Symbol Eps8
Ensembl Gene ENSMUSG00000015766
Gene Name epidermal growth factor receptor pathway substrate 8
Synonyms
MMRRC Submission 042787-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R5214 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 137454242-137626262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137504490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 81 (M81K)
Ref Sequence ENSEMBL: ENSMUSP00000119997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058210] [ENSMUST00000100841] [ENSMUST00000111878] [ENSMUST00000132920] [ENSMUST00000146442] [ENSMUST00000147526]
AlphaFold Q08509
Predicted Effect probably damaging
Transcript: ENSMUST00000058210
AA Change: M81K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: M81K

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: M81K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: M81K

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: M81K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: M81K

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: M98K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122517
Gene: ENSMUSG00000015766
AA Change: M98K

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 probably damaging
Transcript: ENSMUST00000146442
AA Change: M81K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119997
Gene: ENSMUSG00000015766
AA Change: M81K

DomainStartEndE-ValueType
PTB 60 188 3.18e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000147526
AA Change: M81K

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: M81K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153933
Meta Mutation Damage Score 0.5502 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (77/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik A G 3: 116,861,424 (GRCm39) noncoding transcript Het
4930449A18Rik A T 3: 59,733,305 (GRCm39) noncoding transcript Het
Acsbg3 T C 17: 57,193,493 (GRCm39) V613A probably benign Het
Adgrl1 G A 8: 84,642,202 (GRCm39) probably null Het
Aldh1l1 A G 6: 90,540,399 (GRCm39) D228G probably damaging Het
Ankrd17 T C 5: 90,431,319 (GRCm39) I822V possibly damaging Het
Atm C A 9: 53,402,327 (GRCm39) A1382S probably benign Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Cacna1e T A 1: 154,577,110 (GRCm39) I96F possibly damaging Het
Calhm5 A G 10: 33,968,487 (GRCm39) S189P probably damaging Het
Ccar1 G A 10: 62,606,740 (GRCm39) R335C probably damaging Het
Ccdc113 T C 8: 96,272,601 (GRCm39) I236T possibly damaging Het
Ccdc14 T A 16: 34,525,225 (GRCm39) S125T probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdon T C 9: 35,394,504 (GRCm39) C917R probably damaging Het
Ckap2l T C 2: 129,127,389 (GRCm39) D263G probably benign Het
Cntnap3 G T 13: 64,909,824 (GRCm39) H760Q probably damaging Het
Dennd2d G A 3: 106,393,637 (GRCm39) probably null Het
Dock4 A G 12: 40,754,465 (GRCm39) I485V probably benign Het
Dspp A G 5: 104,326,364 (GRCm39) D909G unknown Het
Fras1 T C 5: 96,917,452 (GRCm39) S3491P probably damaging Het
Gm17669 C T 18: 67,695,479 (GRCm39) T8I possibly damaging Het
Gm5114 G T 7: 39,057,792 (GRCm39) T609K probably benign Het
Gm973 A G 1: 59,565,880 (GRCm39) N32S probably damaging Het
Herpud1 G T 8: 95,117,479 (GRCm39) probably null Het
Jcad T A 18: 4,674,134 (GRCm39) L632Q probably damaging Het
Kcnh8 T C 17: 53,205,486 (GRCm39) L527S probably damaging Het
Klk1b11 C A 7: 43,647,266 (GRCm39) H67N probably benign Het
Ldhb T A 6: 142,441,321 (GRCm39) I190F probably damaging Het
Lrrc34 A T 3: 30,690,397 (GRCm39) C168* probably null Het
Lrtm1 C T 14: 28,743,651 (GRCm39) H40Y possibly damaging Het
Mageb3 T C 2: 121,785,319 (GRCm39) M128V possibly damaging Het
Miga2 A G 2: 30,261,208 (GRCm39) T90A probably benign Het
Msantd5 C A 11: 51,125,675 (GRCm39) H199Q possibly damaging Het
Ndrg1 G A 15: 66,831,239 (GRCm39) T24I probably damaging Het
Nos2 T C 11: 78,846,267 (GRCm39) L878P probably damaging Het
Or11g27 T G 14: 50,771,804 (GRCm39) *312E probably null Het
Pcdhgb1 T A 18: 37,814,478 (GRCm39) I323N probably damaging Het
Plec A G 15: 76,061,921 (GRCm39) I2537T probably damaging Het
Pnpo C A 11: 96,833,295 (GRCm39) E68D probably benign Het
Ppp6r1 C T 7: 4,646,176 (GRCm39) R175Q probably benign Het
Prnp C T 2: 131,778,924 (GRCm39) T192I probably damaging Het
Ptprb T C 10: 116,205,229 (GRCm39) I2148T possibly damaging Het
Raf1 G T 6: 115,614,583 (GRCm39) F99L possibly damaging Het
Rbks A G 5: 31,807,736 (GRCm39) probably benign Het
Rlf T C 4: 121,007,897 (GRCm39) D361G probably damaging Het
Rnpepl1 G T 1: 92,847,001 (GRCm39) D608Y probably benign Het
Scaf1 G A 7: 44,652,662 (GRCm39) probably benign Het
Sh3rf1 A T 8: 61,825,765 (GRCm39) M587L probably damaging Het
Slc22a21 A T 11: 53,843,869 (GRCm39) S473T probably damaging Het
Syt15 A G 14: 33,943,703 (GRCm39) D84G possibly damaging Het
Tbc1d19 T C 5: 54,007,183 (GRCm39) L236P probably benign Het
Tbx2 G T 11: 85,729,263 (GRCm39) A549S probably benign Het
Tc2n A T 12: 101,659,461 (GRCm39) C157* probably null Het
Tecta C T 9: 42,256,964 (GRCm39) V1571I probably benign Het
Them4 A G 3: 94,224,818 (GRCm39) K65R probably benign Het
Tmc5 C T 7: 118,247,155 (GRCm39) T553M probably damaging Het
Tmem200c C T 17: 69,148,122 (GRCm39) A235V probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Tmf1 G C 6: 97,144,253 (GRCm39) A701G possibly damaging Het
Tomm70a G A 16: 56,942,300 (GRCm39) G26S unknown Het
Treh T C 9: 44,594,173 (GRCm39) Y140H probably damaging Het
Ttc28 A G 5: 111,325,489 (GRCm39) probably benign Het
Uba7 T C 9: 107,854,713 (GRCm39) probably benign Het
Ube4a T C 9: 44,860,166 (GRCm39) I299V probably benign Het
Zfhx4 A C 3: 5,468,701 (GRCm39) K2953T probably damaging Het
Zfp280d T A 9: 72,215,395 (GRCm39) probably benign Het
Zscan20 G A 4: 128,482,109 (GRCm39) R518C probably benign Het
Zw10 T C 9: 48,975,463 (GRCm39) I296T possibly 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
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'- GTATCGGTGGTGAACTCTTAAGAC -3'
(R):5'- TCAACTCCACCCTGTCAGTG -3'

Sequencing Primer
(F):5'- TCGGTGGTGAACTCTTAAGACTAAAG -3'
(R):5'- ATACCTATGGAGAGGGTTTT -3'
Posted On 2016-07-22