Incidental Mutation 'R4684:Eps8l1'
ID 353515
Institutional Source Beutler Lab
Gene Symbol Eps8l1
Ensembl Gene ENSMUSG00000006154
Gene Name EPS8-like 1
Synonyms DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4684 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4463673-4483486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4476944 bp (GRCm39)
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] [ENSMUST00000171445] [ENSMUST00000169820] [ENSMUST00000167810] [ENSMUST00000167298] [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 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 noncoding transcript
Transcript: ENSMUST00000170423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167599
Predicted Effect probably benign
Transcript: ENSMUST00000169820
SMART Domains Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
Pfam:PTB 35 93 1.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167810
SMART Domains Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
Pfam:PTB 35 152 5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167298
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: 47,083,872 (GRCm39) V45A probably benign Het
4921509C19Rik A G 2: 151,313,791 (GRCm39) I629T unknown Het
4933402N03Rik T C 7: 130,740,413 (GRCm39) R268G probably damaging Het
Abca13 A T 11: 9,384,193 (GRCm39) R3882* probably null Het
Adamts3 T G 5: 89,850,866 (GRCm39) T558P probably damaging Het
Ano2 A G 6: 125,767,304 (GRCm39) N214S probably benign Het
Arhgef4 A T 1: 34,850,866 (GRCm39) probably null Het
Boc C T 16: 44,320,743 (GRCm39) A306T probably benign Het
Capn10 T C 1: 92,871,503 (GRCm39) F367S probably damaging Het
Ccdc6 T C 10: 70,025,086 (GRCm39) probably benign Het
Cobll1 G T 2: 64,929,372 (GRCm39) S688R possibly damaging Het
Cpxm2 G T 7: 131,650,767 (GRCm39) P631Q possibly damaging Het
Cyp2c68 A G 19: 39,687,779 (GRCm39) V406A possibly damaging Het
Cyp4a30b T A 4: 115,312,200 (GRCm39) Y118N probably damaging Het
Dgki A T 6: 37,276,781 (GRCm39) probably benign Het
Disp2 A G 2: 118,623,237 (GRCm39) N1323S probably damaging Het
Dock1 T A 7: 134,326,138 (GRCm39) Y42* probably null Het
Fam20a A C 11: 109,612,513 (GRCm39) L10R unknown Het
Fpr-rs4 T A 17: 18,242,446 (GRCm39) I151K probably damaging Het
Gga1 C A 15: 78,769,509 (GRCm39) P161T probably damaging Het
Gm9923 T A 10: 72,145,306 (GRCm39) Y52* probably null Het
Gucy2g A G 19: 55,194,688 (GRCm39) F910L probably damaging Het
H2-T5 A T 17: 36,476,750 (GRCm39) H241Q possibly damaging Het
Helz T C 11: 107,539,971 (GRCm39) V315A probably damaging Het
Hk2 T C 6: 82,716,629 (GRCm39) Y301C probably damaging Het
Htt C T 5: 35,010,109 (GRCm39) P1521S probably damaging Het
Iah1 T C 12: 21,366,434 (GRCm39) M1T probably null Het
Ik T C 18: 36,885,467 (GRCm39) S287P probably damaging Het
Itga1 T A 13: 115,185,906 (GRCm39) D32V probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Klk14 A G 7: 43,341,392 (GRCm39) I15V probably benign Het
Kng2 T C 16: 22,806,391 (GRCm39) I603V possibly damaging Het
Lama1 T C 17: 68,080,773 (GRCm39) I1267T possibly damaging Het
Lrp1b A C 2: 40,812,316 (GRCm39) L2430V probably benign Het
Lrrn3 T G 12: 41,504,243 (GRCm39) K25Q possibly damaging Het
Lta4h T A 10: 93,304,678 (GRCm39) N233K probably benign Het
Mapk13 T C 17: 28,989,023 (GRCm39) I53T probably damaging Het
Mdn1 T C 4: 32,666,430 (GRCm39) F123L probably damaging Het
Myh4 G C 11: 67,136,637 (GRCm39) D472H probably damaging Het
Nipa2 A T 7: 55,585,574 (GRCm39) N121K probably benign Het
Nostrin C T 2: 69,014,268 (GRCm39) T408M probably benign Het
Oosp2 C T 19: 11,627,017 (GRCm39) R102H probably damaging Het
Or1j18 A G 2: 36,624,686 (GRCm39) M118V probably damaging Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Osgin2 T A 4: 16,001,946 (GRCm39) I202L probably benign Het
Pbld2 C A 10: 62,893,476 (GRCm39) R271S probably damaging Het
Pex6 C T 17: 47,023,027 (GRCm39) T201I probably benign Het
Pilra T C 5: 137,833,777 (GRCm39) I96M probably damaging Het
Pllp T A 8: 95,403,906 (GRCm39) D47V possibly damaging Het
Plxna2 A G 1: 194,444,902 (GRCm39) S765G probably benign Het
Prkca A T 11: 107,852,434 (GRCm39) Y100N probably damaging Het
Prkg1 T A 19: 31,641,579 (GRCm39) K35* probably null Het
Psmc2 A G 5: 22,008,263 (GRCm39) D389G possibly damaging Het
Rnf213 A G 11: 119,331,951 (GRCm39) T2387A probably damaging Het
Ros1 T C 10: 52,005,192 (GRCm39) N914S probably damaging Het
Ruvbl1 C A 6: 88,468,581 (GRCm39) T367K probably benign Het
Scube2 C T 7: 109,409,920 (GRCm39) R525H probably damaging Het
Sec14l4 T C 11: 3,985,200 (GRCm39) probably null Het
Secisbp2l T C 2: 125,587,862 (GRCm39) D751G probably damaging Het
Setd3 T C 12: 108,074,949 (GRCm39) D402G probably benign Het
Slc15a2 T A 16: 36,578,211 (GRCm39) K359N probably damaging Het
Slc25a21 A G 12: 57,243,721 (GRCm39) S2P probably benign Het
Slfn8 A T 11: 82,908,332 (GRCm39) H70Q probably benign Het
Spef2 T C 15: 9,647,576 (GRCm39) I944V probably benign Het
Spg11 A G 2: 121,895,557 (GRCm39) F1887S probably damaging Het
Sptbn4 A T 7: 27,066,160 (GRCm39) D649E possibly damaging Het
Sptbn4 T C 7: 27,063,844 (GRCm39) E879G probably damaging Het
Stx5a C A 19: 8,720,725 (GRCm39) R121S probably damaging Het
Tbcd T C 11: 121,384,597 (GRCm39) L26P probably damaging Het
Tecpr1 T C 5: 144,144,255 (GRCm39) D649G probably benign Het
Tfam A G 10: 71,073,677 (GRCm39) S32P probably benign Het
Tmt1b G T 10: 128,796,571 (GRCm39) C79* probably null Het
Trmt44 C T 5: 35,715,387 (GRCm39) R642H probably benign Het
Trpm3 G A 19: 22,965,145 (GRCm39) A1547T probably benign Het
Ttll6 T C 11: 96,044,003 (GRCm39) V519A probably benign Het
Umodl1 T C 17: 31,217,088 (GRCm39) F1107L probably benign Het
Usp5 A T 6: 124,794,919 (GRCm39) V677E probably damaging Het
Utp20 A T 10: 88,643,307 (GRCm39) L605* probably null Het
Utrn T C 10: 12,620,984 (GRCm39) D229G probably damaging Het
Uty A T Y: 1,176,502 (GRCm39) L178* probably null Het
Vmn2r88 A T 14: 51,650,791 (GRCm39) D168V possibly damaging Het
Vps13b T C 15: 35,646,324 (GRCm39) V1476A probably damaging Het
Vps13b C A 15: 35,879,967 (GRCm39) T3014K probably benign Het
Vps13b C T 15: 35,841,487 (GRCm39) H2506Y probably benign Het
Vps37c T C 19: 10,690,132 (GRCm39) V198A probably benign Het
Zfc3h1 T C 10: 115,259,290 (GRCm39) Y1621H probably benign Het
Zfp251 T C 15: 76,738,607 (GRCm39) D162G possibly damaging Het
Zfp292 T C 4: 34,807,078 (GRCm39) T1994A probably benign Het
Zfp791 A G 8: 85,837,559 (GRCm39) Y102H probably benign Het
Other mutations in Eps8l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Eps8l1 APN 7 4,481,919 (GRCm39) utr 3 prime probably benign
IGL01455:Eps8l1 APN 7 4,481,922 (GRCm39) utr 3 prime probably benign
IGL01872:Eps8l1 APN 7 4,475,295 (GRCm39) splice site probably benign
IGL02343:Eps8l1 APN 7 4,475,123 (GRCm39) missense probably benign 0.04
IGL02585:Eps8l1 APN 7 4,472,212 (GRCm39) missense probably damaging 1.00
IGL02596:Eps8l1 APN 7 4,473,871 (GRCm39) missense probably damaging 0.99
IGL02673:Eps8l1 APN 7 4,481,731 (GRCm39) missense probably damaging 1.00
IGL03117:Eps8l1 APN 7 4,473,886 (GRCm39) missense probably damaging 1.00
Anamnestic UTSW 7 4,473,873 (GRCm39) missense probably damaging 0.98
souvenir UTSW 7 4,480,895 (GRCm39) missense possibly damaging 0.56
PIT4142001:Eps8l1 UTSW 7 4,474,414 (GRCm39) missense probably benign 0.00
PIT4151001:Eps8l1 UTSW 7 4,474,414 (GRCm39) missense probably benign 0.00
PIT4480001:Eps8l1 UTSW 7 4,474,414 (GRCm39) missense probably benign 0.00
R0015:Eps8l1 UTSW 7 4,480,556 (GRCm39) splice site probably benign
R0599:Eps8l1 UTSW 7 4,480,956 (GRCm39) missense possibly damaging 0.90
R0686:Eps8l1 UTSW 7 4,480,449 (GRCm39) missense probably benign 0.36
R0827:Eps8l1 UTSW 7 4,480,388 (GRCm39) missense possibly damaging 0.86
R1015:Eps8l1 UTSW 7 4,472,932 (GRCm39) missense probably damaging 1.00
R1447:Eps8l1 UTSW 7 4,477,055 (GRCm39) missense probably damaging 1.00
R1490:Eps8l1 UTSW 7 4,473,888 (GRCm39) missense probably damaging 1.00
R1527:Eps8l1 UTSW 7 4,474,393 (GRCm39) missense probably benign
R1553:Eps8l1 UTSW 7 4,480,448 (GRCm39) missense probably damaging 0.98
R1763:Eps8l1 UTSW 7 4,474,822 (GRCm39) missense probably benign 0.43
R1863:Eps8l1 UTSW 7 4,468,359 (GRCm39) utr 5 prime probably benign
R2357:Eps8l1 UTSW 7 4,473,354 (GRCm39) missense probably benign 0.06
R3153:Eps8l1 UTSW 7 4,474,798 (GRCm39) missense probably damaging 1.00
R4082:Eps8l1 UTSW 7 4,473,797 (GRCm39) splice site probably null
R4539:Eps8l1 UTSW 7 4,481,623 (GRCm39) missense probably damaging 1.00
R4930:Eps8l1 UTSW 7 4,463,915 (GRCm39) missense possibly damaging 0.66
R4931:Eps8l1 UTSW 7 4,474,240 (GRCm39) missense possibly damaging 0.95
R5245:Eps8l1 UTSW 7 4,473,873 (GRCm39) missense probably damaging 0.98
R5247:Eps8l1 UTSW 7 4,473,401 (GRCm39) missense probably damaging 1.00
R5305:Eps8l1 UTSW 7 4,480,895 (GRCm39) missense possibly damaging 0.56
R5420:Eps8l1 UTSW 7 4,473,160 (GRCm39) splice site probably null
R5620:Eps8l1 UTSW 7 4,463,945 (GRCm39) missense possibly damaging 0.83
R5705:Eps8l1 UTSW 7 4,473,034 (GRCm39) missense probably benign 0.00
R6063:Eps8l1 UTSW 7 4,474,296 (GRCm39) missense possibly damaging 0.56
R6909:Eps8l1 UTSW 7 4,472,899 (GRCm39) nonsense probably null
R7096:Eps8l1 UTSW 7 4,477,190 (GRCm39) missense probably benign 0.01
R7136:Eps8l1 UTSW 7 4,480,403 (GRCm39) missense probably damaging 1.00
R7144:Eps8l1 UTSW 7 4,475,184 (GRCm39) missense probably damaging 1.00
R7381:Eps8l1 UTSW 7 4,473,437 (GRCm39) splice site probably null
R7539:Eps8l1 UTSW 7 4,473,036 (GRCm39) missense probably damaging 1.00
R7784:Eps8l1 UTSW 7 4,475,121 (GRCm39) missense probably damaging 1.00
R7833:Eps8l1 UTSW 7 4,471,866 (GRCm39) missense possibly damaging 0.76
R8190:Eps8l1 UTSW 7 4,474,297 (GRCm39) missense probably benign 0.05
R8311:Eps8l1 UTSW 7 4,474,817 (GRCm39) missense probably damaging 1.00
R8549:Eps8l1 UTSW 7 4,473,853 (GRCm39) missense probably damaging 1.00
R8960:Eps8l1 UTSW 7 4,481,214 (GRCm39) missense probably damaging 1.00
R8974:Eps8l1 UTSW 7 4,474,817 (GRCm39) missense probably damaging 1.00
R9003:Eps8l1 UTSW 7 4,464,016 (GRCm39) missense possibly damaging 0.92
R9023:Eps8l1 UTSW 7 4,477,042 (GRCm39) nonsense probably null
R9131:Eps8l1 UTSW 7 4,480,573 (GRCm39) missense
R9517:Eps8l1 UTSW 7 4,480,636 (GRCm39) missense probably damaging 1.00
R9653:Eps8l1 UTSW 7 4,481,886 (GRCm39) missense unknown
X0060:Eps8l1 UTSW 7 4,473,850 (GRCm39) 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