Incidental Mutation 'IGL01694:Eps8l3'
ID104219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eps8l3
Ensembl Gene ENSMUSG00000040600
Gene NameEPS8-like 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock #IGL01694
Quality Score
Status
Chromosome3
Chromosomal Location107877229-107892900 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 107892308 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 578 (C578Y)
Ref Sequence ENSEMBL: ENSMUSP00000042004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004134] [ENSMUST00000037375] [ENSMUST00000167387] [ENSMUST00000167523] [ENSMUST00000169365] [ENSMUST00000170058] [ENSMUST00000172247]
Predicted Effect probably benign
Transcript: ENSMUST00000004134
SMART Domains Protein: ENSMUSP00000004134
Gene: ENSMUSG00000004032

DomainStartEndE-ValueType
Pfam:GST_N 6 85 4e-23 PFAM
Pfam:GST_C 107 195 1.5e-19 PFAM
Pfam:GST_C_3 113 193 2.9e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000037375
AA Change: C578Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042004
Gene: ENSMUSG00000040600
AA Change: C578Y

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: ENSMUST00000131345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163675
Predicted Effect probably benign
Transcript: ENSMUST00000167387
SMART Domains Protein: ENSMUSP00000127020
Gene: ENSMUSG00000004032

DomainStartEndE-ValueType
Pfam:GST_C 41 129 2.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167523
SMART Domains Protein: ENSMUSP00000127840
Gene: ENSMUSG00000004032

DomainStartEndE-ValueType
Pfam:GST_N 6 67 6.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169365
SMART Domains Protein: ENSMUSP00000128306
Gene: ENSMUSG00000004032

DomainStartEndE-ValueType
Pfam:GST_C 41 129 2.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170058
SMART Domains Protein: ENSMUSP00000125913
Gene: ENSMUSG00000004032

DomainStartEndE-ValueType
Pfam:GST_N 6 55 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172247
SMART Domains Protein: ENSMUSP00000129426
Gene: ENSMUSG00000004032

DomainStartEndE-ValueType
Pfam:GST_N 6 85 2.1e-21 PFAM
Pfam:GST_C 107 193 2.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198085
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 36,096,702 *219W probably null Het
Abi1 G A 2: 22,960,713 T238M probably damaging Het
Agbl2 C T 2: 90,801,074 L259F probably damaging Het
Cacna1g T A 11: 94,429,112 I1413F probably damaging Het
Ddx21 T A 10: 62,598,651 K110* probably null Het
Dnm1l A T 16: 16,316,651 I463N probably benign Het
Dst C A 1: 34,188,160 H1286Q probably benign Het
Elmo2 A T 2: 165,314,773 N67K probably benign Het
Fam83b T A 9: 76,490,990 I944F probably benign Het
Itga10 A T 3: 96,652,517 D496V probably damaging Het
Lama2 T G 10: 27,006,742 K2608N possibly damaging Het
Lap3 T A 5: 45,498,595 probably null Het
Madd T C 2: 91,157,975 probably benign Het
Mdh1b T A 1: 63,711,106 probably benign Het
Ncapg2 G A 12: 116,407,230 probably benign Het
Olfr1509 A G 14: 52,450,584 N57S probably benign Het
Opalin A G 19: 41,063,800 probably benign Het
Plxna3 T A X: 74,338,508 D1291E probably damaging Het
Prss40 T A 1: 34,556,097 I101F probably benign Het
Rpl5 T C 5: 107,907,240 Y253H probably benign Het
Sephs2 A G 7: 127,273,087 I278T probably benign Het
Slc25a34 G A 4: 141,622,253 A197V probably benign Het
Slco6d1 C T 1: 98,499,845 R634W probably damaging Het
Smarca4 C A 9: 21,665,870 A871D probably damaging Het
Speer2 C T 16: 69,858,112 S155N probably damaging Het
Speer2 T A 16: 69,858,113 S155C probably damaging Het
Spink12 T A 18: 44,107,760 V71E probably damaging Het
Tecta T C 9: 42,367,179 D1011G possibly damaging Het
Tmtc4 G A 14: 122,973,212 T78I possibly damaging Het
Tub T C 7: 109,021,036 probably benign Het
Vps13c T A 9: 67,895,349 V644D probably damaging Het
Zfp7 C T 15: 76,890,795 Q346* probably null Het
Other mutations in Eps8l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Eps8l3 APN 3 107881171 missense probably damaging 0.97
IGL02748:Eps8l3 APN 3 107879368 intron probably benign
PIT1430001:Eps8l3 UTSW 3 107884867 missense probably damaging 1.00
R0060:Eps8l3 UTSW 3 107879541 missense probably damaging 0.98
R0060:Eps8l3 UTSW 3 107879541 missense probably damaging 0.98
R0517:Eps8l3 UTSW 3 107883460 missense probably benign
R0555:Eps8l3 UTSW 3 107892345 missense probably benign
R0585:Eps8l3 UTSW 3 107881197 missense probably damaging 0.99
R0646:Eps8l3 UTSW 3 107884810 missense probably damaging 1.00
R0741:Eps8l3 UTSW 3 107882825 missense probably benign
R1682:Eps8l3 UTSW 3 107891306 missense possibly damaging 0.82
R1844:Eps8l3 UTSW 3 107879586 missense possibly damaging 0.95
R1900:Eps8l3 UTSW 3 107890952 missense probably benign 0.16
R1937:Eps8l3 UTSW 3 107884392 missense probably benign 0.02
R2010:Eps8l3 UTSW 3 107879372 start codon destroyed probably null 1.00
R2973:Eps8l3 UTSW 3 107891328 missense probably damaging 1.00
R4369:Eps8l3 UTSW 3 107891014 missense possibly damaging 0.95
R4803:Eps8l3 UTSW 3 107891009 missense probably damaging 1.00
R4926:Eps8l3 UTSW 3 107890688 splice site probably benign
R5420:Eps8l3 UTSW 3 107883985 nonsense probably null
R5580:Eps8l3 UTSW 3 107881603 missense probably damaging 1.00
R5593:Eps8l3 UTSW 3 107891188 unclassified probably benign
R5699:Eps8l3 UTSW 3 107879579 missense probably benign 0.06
R5705:Eps8l3 UTSW 3 107891264 missense probably benign 0.01
R5972:Eps8l3 UTSW 3 107884447 splice site probably null
R6250:Eps8l3 UTSW 3 107890465 missense probably benign 0.01
Posted On2014-01-21