Incidental Mutation 'R0741:Eps8l3'
ID 70676
Institutional Source Beutler Lab
Gene Symbol Eps8l3
Ensembl Gene ENSMUSG00000040600
Gene Name EPS8-like 3
Synonyms
MMRRC Submission 038922-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0741 (G1)
Quality Score 162
Status Not validated
Chromosome 3
Chromosomal Location 107784545-107800216 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107790141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 141 (T141A)
Ref Sequence ENSEMBL: ENSMUSP00000042004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037375] [ENSMUST00000199990]
AlphaFold Q91WL0
Predicted Effect probably benign
Transcript: ENSMUST00000037375
AA Change: T141A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042004
Gene: ENSMUSG00000040600
AA Change: T141A

DomainStartEndE-ValueType
Pfam:PTB 28 155 3.7e-40 PFAM
low complexity region 204 214 N/A INTRINSIC
low complexity region 230 247 N/A INTRINSIC
low complexity region 273 285 N/A INTRINSIC
SH3 460 515 5.19e-15 SMART
PDB:2E8M|A 516 582 3e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198085
Predicted Effect probably benign
Transcript: ENSMUST00000199990
SMART Domains Protein: ENSMUSP00000143754
Gene: ENSMUSG00000040600

DomainStartEndE-ValueType
Pfam:PTB 1 88 8.2e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200198
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.1%
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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 T A 1: 93,329,309 (GRCm39) I701N probably damaging Het
Asb7 A T 7: 66,309,882 (GRCm39) N111K probably benign Het
Atp10a T A 7: 58,478,337 (GRCm39) L1460Q possibly damaging Het
Auh T C 13: 53,083,638 (GRCm39) T14A possibly damaging Het
Caskin2 A G 11: 115,695,626 (GRCm39) V245A probably damaging Het
Cryba4 G A 5: 112,394,554 (GRCm39) R192C probably damaging Het
Ctsq T A 13: 61,184,019 (GRCm39) D301V probably damaging Het
Dpyd A G 3: 118,468,154 (GRCm39) E56G possibly damaging Het
Dtd2 T C 12: 52,046,455 (GRCm39) K128R probably benign Het
Evc A T 5: 37,483,739 (GRCm39) I187N possibly damaging Het
Fam120a A G 13: 49,045,416 (GRCm39) S807P possibly damaging Het
Fbxw22 G A 9: 109,211,287 (GRCm39) S338L probably benign Het
Gcnt4 G T 13: 97,082,940 (GRCm39) E79* probably null Het
Get4 G A 5: 139,249,384 (GRCm39) probably benign Het
Hipk1 A G 3: 103,654,128 (GRCm39) V954A probably benign Het
Ifi206 C T 1: 173,301,315 (GRCm39) V788M probably benign Het
Iqgap1 A G 7: 80,370,735 (GRCm39) S1545P probably benign Het
Kif21b A G 1: 136,087,482 (GRCm39) T933A probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Magee2 A G X: 103,899,472 (GRCm39) L393P probably damaging Het
Mtrr T C 13: 68,727,658 (GRCm39) probably null Het
Nes A G 3: 87,886,274 (GRCm39) E1467G probably damaging Het
Nol3 C G 8: 106,005,756 (GRCm39) A50G probably damaging Het
Nr2f2 G A 7: 70,007,745 (GRCm39) R113C probably damaging Het
Obscn CCACACACACACAC CCACACACACAC 11: 58,954,279 (GRCm39) probably null Het
Or10a3m T A 7: 108,312,811 (GRCm39) C84S probably benign Het
Pnkd T A 1: 74,391,018 (GRCm39) S337R possibly damaging Het
Ptprh A G 7: 4,557,172 (GRCm39) probably null Het
Ralgapa1 A C 12: 55,723,366 (GRCm39) V1767G probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Skap1 A C 11: 96,383,759 (GRCm39) probably benign Het
Trip12 A G 1: 84,722,902 (GRCm39) S1250P probably benign Het
Txndc5 T C 13: 38,712,236 (GRCm39) H50R possibly damaging Het
Usp25 C A 16: 76,868,596 (GRCm39) D332E possibly damaging Het
Vgll1 A T X: 56,141,644 (GRCm39) probably benign Het
Other mutations in Eps8l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Eps8l3 APN 3 107,788,487 (GRCm39) missense probably damaging 0.97
IGL01694:Eps8l3 APN 3 107,799,624 (GRCm39) missense probably damaging 1.00
IGL02748:Eps8l3 APN 3 107,786,684 (GRCm39) intron probably benign
PIT1430001:Eps8l3 UTSW 3 107,792,183 (GRCm39) missense probably damaging 1.00
R0060:Eps8l3 UTSW 3 107,786,857 (GRCm39) missense probably damaging 0.98
R0060:Eps8l3 UTSW 3 107,786,857 (GRCm39) missense probably damaging 0.98
R0517:Eps8l3 UTSW 3 107,790,776 (GRCm39) missense probably benign
R0555:Eps8l3 UTSW 3 107,799,661 (GRCm39) missense probably benign
R0585:Eps8l3 UTSW 3 107,788,513 (GRCm39) missense probably damaging 0.99
R0646:Eps8l3 UTSW 3 107,792,126 (GRCm39) missense probably damaging 1.00
R1682:Eps8l3 UTSW 3 107,798,622 (GRCm39) missense possibly damaging 0.82
R1844:Eps8l3 UTSW 3 107,786,902 (GRCm39) missense possibly damaging 0.95
R1900:Eps8l3 UTSW 3 107,798,268 (GRCm39) missense probably benign 0.16
R1937:Eps8l3 UTSW 3 107,791,708 (GRCm39) missense probably benign 0.02
R2010:Eps8l3 UTSW 3 107,786,688 (GRCm39) start codon destroyed probably null 1.00
R2973:Eps8l3 UTSW 3 107,798,644 (GRCm39) missense probably damaging 1.00
R4369:Eps8l3 UTSW 3 107,798,330 (GRCm39) missense possibly damaging 0.95
R4803:Eps8l3 UTSW 3 107,798,325 (GRCm39) missense probably damaging 1.00
R4926:Eps8l3 UTSW 3 107,798,004 (GRCm39) splice site probably benign
R5420:Eps8l3 UTSW 3 107,791,301 (GRCm39) nonsense probably null
R5580:Eps8l3 UTSW 3 107,788,919 (GRCm39) missense probably damaging 1.00
R5593:Eps8l3 UTSW 3 107,798,504 (GRCm39) unclassified probably benign
R5699:Eps8l3 UTSW 3 107,786,895 (GRCm39) missense probably benign 0.06
R5705:Eps8l3 UTSW 3 107,798,580 (GRCm39) missense probably benign 0.01
R5972:Eps8l3 UTSW 3 107,791,763 (GRCm39) splice site probably null
R6250:Eps8l3 UTSW 3 107,797,781 (GRCm39) missense probably benign 0.01
R7097:Eps8l3 UTSW 3 107,791,801 (GRCm39) splice site probably null
R7967:Eps8l3 UTSW 3 107,798,604 (GRCm39) missense possibly damaging 0.64
R9587:Eps8l3 UTSW 3 107,798,683 (GRCm39) missense probably benign 0.28
Z1177:Eps8l3 UTSW 3 107,788,982 (GRCm39) critical splice donor site probably null
Predicted Primers
Posted On 2013-09-30