Incidental Mutation 'R4684:Eps8l1'
ID 353515
Institutional Source Beutler Lab
Gene Symbol Eps8l1
Ensembl Gene ENSMUSG00000006154
Gene Name EPS8-like 1
Synonyms 4632407K17Rik, 2310051G19Rik, DRC3, EPS8R1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4684 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4460674-4480487 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4473945 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 471 (P471Q)
Ref Sequence ENSEMBL: ENSMUSP00000133206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086372] [ENSMUST00000163137] [ENSMUST00000163804] [ENSMUST00000163893] [ENSMUST00000164987] [ENSMUST00000167298] [ENSMUST00000167810] [ENSMUST00000169820] [ENSMUST00000171445] [ENSMUST00000170635]
AlphaFold Q8R5F8
Predicted Effect probably benign
Transcript: ENSMUST00000086372
AA Change: P410Q

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: P410Q

DomainStartEndE-ValueType
Pfam:PTB 35 165 2.1e-46 PFAM
low complexity region 282 304 N/A INTRINSIC
SH3 480 535 2.62e-11 SMART
low complexity region 554 564 N/A INTRINSIC
PDB:1WWU|A 632 698 1e-19 PDB
low complexity region 701 715 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146199
Predicted Effect probably benign
Transcript: ENSMUST00000163137
SMART Domains Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
Pfam:PTB 35 100 1.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163804
Predicted Effect probably benign
Transcript: ENSMUST00000163893
AA Change: P410Q

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: P410Q

DomainStartEndE-ValueType
Pfam:PTB 35 165 2.1e-46 PFAM
low complexity region 282 304 N/A INTRINSIC
SH3 480 535 2.62e-11 SMART
low complexity region 554 564 N/A INTRINSIC
PDB:1WWU|A 632 698 1e-19 PDB
low complexity region 701 715 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164987
SMART Domains Protein: ENSMUSP00000130665
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
low complexity region 15 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167068
Predicted Effect probably benign
Transcript: ENSMUST00000167298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167599
Predicted Effect probably benign
Transcript: ENSMUST00000167810
SMART Domains Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
Pfam:PTB 35 152 5e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168924
Predicted Effect probably benign
Transcript: ENSMUST00000169820
SMART Domains Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
Pfam:PTB 35 93 1.1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170423
Predicted Effect probably damaging
Transcript: ENSMUST00000171445
AA Change: P471Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: P471Q

DomainStartEndE-ValueType
Pfam:PTB 96 226 5.8e-46 PFAM
low complexity region 343 365 N/A INTRINSIC
SH3 541 596 2.62e-11 SMART
low complexity region 615 625 N/A INTRINSIC
PDB:1WWU|A 693 759 1e-19 PDB
low complexity region 762 776 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171665
Predicted Effect probably benign
Transcript: ENSMUST00000170635
SMART Domains Protein: ENSMUSP00000127999
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
PDB:2CY5|A 26 52 3e-13 PDB
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 46,772,946 (GRCm38) V45A probably benign Het
4921509C19Rik A G 2: 151,471,871 (GRCm38) I629T unknown Het
4933402N03Rik T C 7: 131,138,684 (GRCm38) R268G probably damaging Het
Abca13 A T 11: 9,434,193 (GRCm38) R3882* probably null Het
Adamts3 T G 5: 89,703,007 (GRCm38) T558P probably damaging Het
Ano2 A G 6: 125,790,341 (GRCm38) N214S probably benign Het
Arhgef4 A T 1: 34,811,785 (GRCm38) probably null Het
Boc C T 16: 44,500,380 (GRCm38) A306T probably benign Het
Capn10 T C 1: 92,943,781 (GRCm38) F367S probably damaging Het
Ccdc6 T C 10: 70,189,256 (GRCm38) probably benign Het
Cobll1 G T 2: 65,099,028 (GRCm38) S688R possibly damaging Het
Cpxm2 G T 7: 132,049,038 (GRCm38) P631Q possibly damaging Het
Cyp2c68 A G 19: 39,699,335 (GRCm38) V406A possibly damaging Het
Cyp4a30b T A 4: 115,455,003 (GRCm38) Y118N probably damaging Het
Dgki A T 6: 37,299,846 (GRCm38) probably benign Het
Disp2 A G 2: 118,792,756 (GRCm38) N1323S probably damaging Het
Dock1 T A 7: 134,724,409 (GRCm38) Y42* probably null Het
Fam20a A C 11: 109,721,687 (GRCm38) L10R unknown Het
Fpr-rs4 T A 17: 18,022,184 (GRCm38) I151K probably damaging Het
Gga1 C A 15: 78,885,309 (GRCm38) P161T probably damaging Het
Gm8909 A T 17: 36,165,858 (GRCm38) H241Q possibly damaging Het
Gm9923 T A 10: 72,309,476 (GRCm38) Y52* probably null Het
Gucy2g A G 19: 55,206,256 (GRCm38) F910L probably damaging Het
Helz T C 11: 107,649,145 (GRCm38) V315A probably damaging Het
Hk2 T C 6: 82,739,648 (GRCm38) Y301C probably damaging Het
Htt C T 5: 34,852,765 (GRCm38) P1521S probably damaging Het
Iah1 T C 12: 21,316,433 (GRCm38) M1T probably null Het
Ik T C 18: 36,752,414 (GRCm38) S287P probably damaging Het
Itga1 T A 13: 115,049,370 (GRCm38) D32V probably damaging Het
Itpr2 A G 6: 146,373,173 (GRCm38) F837S probably damaging Het
Klk14 A G 7: 43,691,968 (GRCm38) I15V probably benign Het
Kng2 T C 16: 22,987,641 (GRCm38) I603V possibly damaging Het
Lama1 T C 17: 67,773,778 (GRCm38) I1267T possibly damaging Het
Lrp1b A C 2: 40,922,304 (GRCm38) L2430V probably benign Het
Lrrn3 T G 12: 41,454,244 (GRCm38) K25Q possibly damaging Het
Lta4h T A 10: 93,468,816 (GRCm38) N233K probably benign Het
Mapk13 T C 17: 28,770,049 (GRCm38) I53T probably damaging Het
Mdn1 T C 4: 32,666,430 (GRCm38) F123L probably damaging Het
Myh4 G C 11: 67,245,811 (GRCm38) D472H probably damaging Het
Nipa2 A T 7: 55,935,826 (GRCm38) N121K probably benign Het
Nostrin C T 2: 69,183,924 (GRCm38) T408M probably benign Het
Oosp2 C T 19: 11,649,653 (GRCm38) R102H probably damaging Het
Or1j18 A G 2: 36,734,674 (GRCm38) M118V probably damaging Het
Or4k15b T C 14: 50,034,830 (GRCm38) D191G probably damaging Het
Osgin2 T A 4: 16,001,946 (GRCm38) I202L probably benign Het
Pbld2 C A 10: 63,057,697 (GRCm38) R271S probably damaging Het
Pex6 C T 17: 46,712,101 (GRCm38) T201I probably benign Het
Pilra T C 5: 137,835,515 (GRCm38) I96M probably damaging Het
Pllp T A 8: 94,677,278 (GRCm38) D47V possibly damaging Het
Plxna2 A G 1: 194,762,594 (GRCm38) S765G probably benign Het
Prkca A T 11: 107,961,608 (GRCm38) Y100N probably damaging Het
Prkg1 T A 19: 31,664,179 (GRCm38) K35* probably null Het
Psmc2 A G 5: 21,803,265 (GRCm38) D389G possibly damaging Het
Rnf213 A G 11: 119,441,125 (GRCm38) T2387A probably damaging Het
Ros1 T C 10: 52,129,096 (GRCm38) N914S probably damaging Het
Ruvbl1 C A 6: 88,491,599 (GRCm38) T367K probably benign Het
Scube2 C T 7: 109,810,713 (GRCm38) R525H probably damaging Het
Sec14l4 T C 11: 4,035,200 (GRCm38) probably null Het
Secisbp2l T C 2: 125,745,942 (GRCm38) D751G probably damaging Het
Setd3 T C 12: 108,108,690 (GRCm38) D402G probably benign Het
Slc15a2 T A 16: 36,757,849 (GRCm38) K359N probably damaging Het
Slc25a21 A G 12: 57,196,936 (GRCm38) S2P probably benign Het
Slfn8 A T 11: 83,017,506 (GRCm38) H70Q probably benign Het
Spef2 T C 15: 9,647,490 (GRCm38) I944V probably benign Het
Spg11 A G 2: 122,065,076 (GRCm38) F1887S probably damaging Het
Sptbn4 T C 7: 27,364,419 (GRCm38) E879G probably damaging Het
Sptbn4 A T 7: 27,366,735 (GRCm38) D649E possibly damaging Het
Stx5a C A 19: 8,743,361 (GRCm38) R121S probably damaging Het
Tbcd T C 11: 121,493,771 (GRCm38) L26P probably damaging Het
Tecpr1 T C 5: 144,207,437 (GRCm38) D649G probably benign Het
Tfam A G 10: 71,237,847 (GRCm38) S32P probably benign Het
Tmt1b G T 10: 128,960,702 (GRCm38) C79* probably null Het
Trmt44 C T 5: 35,558,043 (GRCm38) R642H probably benign Het
Trpm3 G A 19: 22,987,781 (GRCm38) A1547T probably benign Het
Ttll6 T C 11: 96,153,177 (GRCm38) V519A probably benign Het
Umodl1 T C 17: 30,998,114 (GRCm38) F1107L probably benign Het
Usp5 A T 6: 124,817,956 (GRCm38) V677E probably damaging Het
Utp20 A T 10: 88,807,445 (GRCm38) L605* probably null Het
Utrn T C 10: 12,745,240 (GRCm38) D229G probably damaging Het
Uty A T Y: 1,176,502 (GRCm38) L178* probably null Het
Vmn2r88 A T 14: 51,413,334 (GRCm38) D168V possibly damaging Het
Vps13b T C 15: 35,646,178 (GRCm38) V1476A probably damaging Het
Vps13b C T 15: 35,841,341 (GRCm38) H2506Y probably benign Het
Vps13b C A 15: 35,879,821 (GRCm38) T3014K probably benign Het
Vps37c T C 19: 10,712,768 (GRCm38) V198A probably benign Het
Zfc3h1 T C 10: 115,423,385 (GRCm38) Y1621H probably benign Het
Zfp251 T C 15: 76,854,407 (GRCm38) D162G possibly damaging Het
Zfp292 T C 4: 34,807,078 (GRCm38) T1994A probably benign Het
Zfp791 A G 8: 85,110,930 (GRCm38) Y102H probably benign Het
Other mutations in Eps8l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Eps8l1 APN 7 4,478,920 (GRCm38) utr 3 prime probably benign
IGL01455:Eps8l1 APN 7 4,478,923 (GRCm38) utr 3 prime probably benign
IGL01872:Eps8l1 APN 7 4,472,296 (GRCm38) splice site probably benign
IGL02343:Eps8l1 APN 7 4,472,124 (GRCm38) missense probably benign 0.04
IGL02585:Eps8l1 APN 7 4,469,213 (GRCm38) missense probably damaging 1.00
IGL02596:Eps8l1 APN 7 4,470,872 (GRCm38) missense probably damaging 0.99
IGL02673:Eps8l1 APN 7 4,478,732 (GRCm38) missense probably damaging 1.00
IGL03117:Eps8l1 APN 7 4,470,887 (GRCm38) missense probably damaging 1.00
Anamnestic UTSW 7 4,470,874 (GRCm38) missense probably damaging 0.98
souvenir UTSW 7 4,477,896 (GRCm38) missense possibly damaging 0.56
PIT4142001:Eps8l1 UTSW 7 4,471,415 (GRCm38) missense probably benign 0.00
PIT4151001:Eps8l1 UTSW 7 4,471,415 (GRCm38) missense probably benign 0.00
PIT4480001:Eps8l1 UTSW 7 4,471,415 (GRCm38) missense probably benign 0.00
R0015:Eps8l1 UTSW 7 4,477,557 (GRCm38) splice site probably benign
R0599:Eps8l1 UTSW 7 4,477,957 (GRCm38) missense possibly damaging 0.90
R0686:Eps8l1 UTSW 7 4,477,450 (GRCm38) missense probably benign 0.36
R0827:Eps8l1 UTSW 7 4,477,389 (GRCm38) missense possibly damaging 0.86
R1015:Eps8l1 UTSW 7 4,469,933 (GRCm38) missense probably damaging 1.00
R1447:Eps8l1 UTSW 7 4,474,056 (GRCm38) missense probably damaging 1.00
R1490:Eps8l1 UTSW 7 4,470,889 (GRCm38) missense probably damaging 1.00
R1527:Eps8l1 UTSW 7 4,471,394 (GRCm38) missense probably benign
R1553:Eps8l1 UTSW 7 4,477,449 (GRCm38) missense probably damaging 0.98
R1763:Eps8l1 UTSW 7 4,471,823 (GRCm38) missense probably benign 0.43
R1863:Eps8l1 UTSW 7 4,465,360 (GRCm38) utr 5 prime probably benign
R2357:Eps8l1 UTSW 7 4,470,355 (GRCm38) missense probably benign 0.06
R3153:Eps8l1 UTSW 7 4,471,799 (GRCm38) missense probably damaging 1.00
R4082:Eps8l1 UTSW 7 4,470,798 (GRCm38) splice site probably null
R4539:Eps8l1 UTSW 7 4,478,624 (GRCm38) missense probably damaging 1.00
R4930:Eps8l1 UTSW 7 4,460,916 (GRCm38) missense possibly damaging 0.66
R4931:Eps8l1 UTSW 7 4,471,241 (GRCm38) missense possibly damaging 0.95
R5245:Eps8l1 UTSW 7 4,470,874 (GRCm38) missense probably damaging 0.98
R5247:Eps8l1 UTSW 7 4,470,402 (GRCm38) missense probably damaging 1.00
R5305:Eps8l1 UTSW 7 4,477,896 (GRCm38) missense possibly damaging 0.56
R5420:Eps8l1 UTSW 7 4,470,161 (GRCm38) splice site probably null
R5620:Eps8l1 UTSW 7 4,460,946 (GRCm38) missense possibly damaging 0.83
R5705:Eps8l1 UTSW 7 4,470,035 (GRCm38) missense probably benign 0.00
R6063:Eps8l1 UTSW 7 4,471,297 (GRCm38) missense possibly damaging 0.56
R6909:Eps8l1 UTSW 7 4,469,900 (GRCm38) nonsense probably null
R7096:Eps8l1 UTSW 7 4,474,191 (GRCm38) missense probably benign 0.01
R7136:Eps8l1 UTSW 7 4,477,404 (GRCm38) missense probably damaging 1.00
R7144:Eps8l1 UTSW 7 4,472,185 (GRCm38) missense probably damaging 1.00
R7381:Eps8l1 UTSW 7 4,470,438 (GRCm38) splice site probably null
R7539:Eps8l1 UTSW 7 4,470,037 (GRCm38) missense probably damaging 1.00
R7784:Eps8l1 UTSW 7 4,472,122 (GRCm38) missense probably damaging 1.00
R7833:Eps8l1 UTSW 7 4,468,867 (GRCm38) missense possibly damaging 0.76
R8190:Eps8l1 UTSW 7 4,471,298 (GRCm38) missense probably benign 0.05
R8311:Eps8l1 UTSW 7 4,471,818 (GRCm38) missense probably damaging 1.00
R8549:Eps8l1 UTSW 7 4,470,854 (GRCm38) missense probably damaging 1.00
R8960:Eps8l1 UTSW 7 4,478,215 (GRCm38) missense probably damaging 1.00
R8974:Eps8l1 UTSW 7 4,471,818 (GRCm38) missense probably damaging 1.00
R9003:Eps8l1 UTSW 7 4,461,017 (GRCm38) missense possibly damaging 0.92
R9023:Eps8l1 UTSW 7 4,474,043 (GRCm38) nonsense probably null
R9131:Eps8l1 UTSW 7 4,477,574 (GRCm38) missense
R9517:Eps8l1 UTSW 7 4,477,637 (GRCm38) missense probably damaging 1.00
R9653:Eps8l1 UTSW 7 4,478,887 (GRCm38) missense unknown
X0060:Eps8l1 UTSW 7 4,470,851 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGTGGACCCAGTGTGTTTAG -3'
(R):5'- CACCCCTGTGATGCAGTTAG -3'

Sequencing Primer
(F):5'- ACTGGCCTTGAACTCAGAGATCTG -3'
(R):5'- AGCTGTTTTTCCACTGGG -3'
Posted On 2015-10-21