Incidental Mutation 'R5705:Eps8l1'
ID 451920
Institutional Source Beutler Lab
Gene Symbol Eps8l1
Ensembl Gene ENSMUSG00000006154
Gene Name EPS8-like 1
Synonyms DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik
MMRRC Submission 043330-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5705 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4463673-4483486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4473034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 91 (V91A)
Ref Sequence ENSEMBL: ENSMUSP00000131345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086372] [ENSMUST00000163137] [ENSMUST00000163804] [ENSMUST00000163893] [ENSMUST00000167810] [ENSMUST00000169820] [ENSMUST00000171445] [ENSMUST00000167298] [ENSMUST00000170635]
AlphaFold Q8R5F8
Predicted Effect probably benign
Transcript: ENSMUST00000086372
AA Change: V91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: V91A

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
AA Change: V91A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154
AA Change: V91A

DomainStartEndE-ValueType
Pfam:PTB 35 100 1.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163804
Predicted Effect probably benign
Transcript: ENSMUST00000163893
AA Change: V91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: V91A

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: ENSMUST00000167068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167599
Predicted Effect probably benign
Transcript: ENSMUST00000167810
AA Change: V91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154
AA Change: V91A

DomainStartEndE-ValueType
Pfam:PTB 35 152 5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169820
AA Change: V91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154
AA Change: V91A

DomainStartEndE-ValueType
Pfam:PTB 35 93 1.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171445
AA Change: V152A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: V152A

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 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: 97.3%
  • 20x: 95.3%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,851,276 (GRCm39) V2163A probably benign Het
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Ago1 T C 4: 126,342,587 (GRCm39) I519V probably benign Het
Arhgap4 G A X: 72,950,423 (GRCm39) R43W probably damaging Het
Aurkb T A 11: 68,939,641 (GRCm39) L213I possibly damaging Het
Bod1l T A 5: 41,974,345 (GRCm39) Q2323L probably benign Het
Calhm5 A T 10: 33,971,989 (GRCm39) C149S probably damaging Het
Ccdc17 C T 4: 116,454,066 (GRCm39) T28I probably benign Het
Ccdc39 T C 3: 33,871,086 (GRCm39) E630G probably damaging Het
Cnih4 A G 1: 180,981,300 (GRCm39) I24V probably benign Het
Ctse C A 1: 131,592,112 (GRCm39) T146K possibly damaging Het
Ctsr A G 13: 61,309,078 (GRCm39) F226L probably damaging Het
Cyp2a22 T C 7: 26,638,640 (GRCm39) N49D probably benign Het
Defb23 C T 2: 152,301,204 (GRCm39) A123T probably benign Het
Dtx2 C A 5: 136,039,149 (GRCm39) D69E probably damaging Het
Eps8l3 C A 3: 107,798,580 (GRCm39) Q489K probably benign Het
Esyt3 A G 9: 99,200,260 (GRCm39) S645P probably benign Het
Fam161a T A 11: 22,978,869 (GRCm39) M472K unknown Het
Glp2r A G 11: 67,600,565 (GRCm39) V428A probably benign Het
Gnl1 G A 17: 36,292,492 (GRCm39) V191I probably benign Het
Hfm1 T C 5: 107,059,319 (GRCm39) I234M probably benign Het
Hlx T C 1: 184,463,062 (GRCm39) T197A probably benign Het
Hs3st2 T C 7: 120,992,305 (GRCm39) L85P probably damaging Het
Igsf9 T C 1: 172,322,338 (GRCm39) V511A possibly damaging Het
Insyn2b A G 11: 34,354,349 (GRCm39) Y473C probably damaging Het
Kcnma1 A T 14: 24,053,839 (GRCm39) C54S possibly damaging Het
Klhdc4 A G 8: 122,531,732 (GRCm39) V181A probably benign Het
Ldb3 T C 14: 34,298,986 (GRCm39) M213V probably null Het
Mertk C A 2: 128,613,321 (GRCm39) Q446K probably benign Het
Ndufs1 A G 1: 63,186,317 (GRCm39) V46A probably benign Het
Neurod4 A G 10: 130,107,271 (GRCm39) M1T probably null Het
Nlrc5 T A 8: 95,202,385 (GRCm39) C162S probably benign Het
Pald1 A G 10: 61,159,076 (GRCm39) I785T possibly damaging Het
Pcmt1 T C 10: 7,513,954 (GRCm39) I224M possibly damaging Het
Pisd C T 5: 32,894,707 (GRCm39) R533H probably benign Het
Plcxd3 C A 15: 4,546,676 (GRCm39) Q227K probably benign Het
Polr1b A T 2: 128,947,271 (GRCm39) K199* probably null Het
Ppp1r10 T C 17: 36,240,381 (GRCm39) V557A probably damaging Het
Ralgapa2 A G 2: 146,291,193 (GRCm39) Y248H probably damaging Het
Rsrp1 T C 4: 134,651,331 (GRCm39) S32P unknown Het
Setdb2 T G 14: 59,660,814 (GRCm39) S110R possibly damaging Het
Srcin1 A G 11: 97,439,777 (GRCm39) C152R probably benign Het
Syk A G 13: 52,765,083 (GRCm39) N70S probably benign Het
Tlr4 T A 4: 66,752,217 (GRCm39) D59E probably damaging Het
Tm9sf4 T A 2: 153,024,378 (GRCm39) I67N probably benign Het
Trim30b T A 7: 104,006,784 (GRCm39) Y24F probably damaging Het
Tsga13 A G 6: 30,876,951 (GRCm39) S189P probably damaging Het
Tspan33 A G 6: 29,717,232 (GRCm39) D210G probably benign Het
Use1 G T 8: 71,822,331 (GRCm39) R278L probably damaging Het
Wwc1 T C 11: 35,767,423 (GRCm39) N403D probably damaging Het
Zfp263 C T 16: 3,564,318 (GRCm39) P203S 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
R4684:Eps8l1 UTSW 7 4,476,944 (GRCm39) missense probably damaging 0.99
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
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'- TCAGCAACAGCTTGGCATAGC -3'
(R):5'- AGAGCAGTGTCCAGGACTTG -3'

Sequencing Primer
(F):5'- ATAGCCTGGGACTCAGCTAC -3'
(R):5'- ACTTGGGGCAAGGCAACC -3'
Posted On 2017-01-03