Incidental Mutation 'R0585:Eps8l3'
ID 55701
Institutional Source Beutler Lab
Gene Symbol Eps8l3
Ensembl Gene ENSMUSG00000040600
Gene Name EPS8-like 3
Synonyms
MMRRC Submission 038775-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0585 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 107784545-107800216 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 107788513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Histidine at position 33 (D33H)
Ref Sequence ENSEMBL: ENSMUSP00000143754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037375] [ENSMUST00000199990]
AlphaFold Q91WL0
Predicted Effect possibly damaging
Transcript: ENSMUST00000037375
AA Change: D67H

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042004
Gene: ENSMUSG00000040600
AA Change: D67H

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 damaging
Transcript: ENSMUST00000199990
AA Change: D33H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143754
Gene: ENSMUSG00000040600
AA Change: D33H

DomainStartEndE-ValueType
Pfam:PTB 1 88 8.2e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200198
Meta Mutation Damage Score 0.1697 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.2%
Validation Efficiency 100% (38/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brdt T G 5: 107,504,748 (GRCm39) probably null Het
Ccdc162 C T 10: 41,462,375 (GRCm39) C1474Y probably benign Het
Ces2e T C 8: 105,656,453 (GRCm39) S228P probably damaging Het
Clca3a1 G T 3: 144,738,386 (GRCm39) H41N probably benign Het
Cyp2c39 A T 19: 39,525,203 (GRCm39) I169F probably benign Het
Cyp2c65 A G 19: 39,057,686 (GRCm39) K107R probably benign Het
Cyp2c67 T A 19: 39,627,138 (GRCm39) N231Y possibly damaging Het
Evi5 T C 5: 107,961,402 (GRCm39) probably benign Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Gm3993 T A 12: 20,122,149 (GRCm39) probably null Het
Gtf2ird1 A C 5: 134,405,796 (GRCm39) L28R probably damaging Het
Hsf4 A G 8: 105,997,663 (GRCm39) D75G probably damaging Het
Iqca1l A G 5: 24,755,721 (GRCm39) V267A probably benign Het
Larp4b A G 13: 9,197,529 (GRCm39) T249A probably damaging Het
Larp4b A G 13: 9,220,737 (GRCm39) D578G probably benign Het
Lyz3 T A 10: 117,074,356 (GRCm39) I44F possibly damaging Het
Matn3 A T 12: 9,011,103 (GRCm39) probably benign Het
Myo10 T A 15: 25,736,541 (GRCm39) Y428N probably damaging Het
Nf1 T A 11: 79,459,527 (GRCm39) D661E probably damaging Het
Nktr A G 9: 121,583,346 (GRCm39) probably benign Het
Npbwr1 G A 1: 5,986,677 (GRCm39) T279I possibly damaging Het
Or52n3 A C 7: 104,530,706 (GRCm39) H264P probably damaging Het
Osmr T C 15: 6,867,274 (GRCm39) I341V probably benign Het
Pan2 T C 10: 128,146,384 (GRCm39) probably null Het
Pknox2 G A 9: 36,821,056 (GRCm39) probably benign Het
Pla2g2d A C 4: 138,506,704 (GRCm39) D50A probably benign Het
Ptprk C T 10: 28,451,664 (GRCm39) L1051F probably damaging Het
Rap1gds1 G A 3: 138,727,633 (GRCm39) T59M probably benign Het
Rps5 T C 7: 12,659,332 (GRCm39) V41A possibly damaging Het
Ryr1 G T 7: 28,735,501 (GRCm39) D4092E probably damaging Het
Spic T C 10: 88,511,905 (GRCm39) Y117C probably damaging Het
Thrap3 A T 4: 126,072,367 (GRCm39) probably null Het
Tlr9 C T 9: 106,102,275 (GRCm39) T522I probably benign Het
Tspan3 A T 9: 56,053,216 (GRCm39) probably benign Het
Ttn T C 2: 76,703,503 (GRCm39) probably benign Het
Zfp773 T A 7: 7,135,574 (GRCm39) I341L probably benign Het
Zmat3 G A 3: 32,415,254 (GRCm39) P19S probably damaging 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
R0646:Eps8l3 UTSW 3 107,792,126 (GRCm39) missense probably damaging 1.00
R0741:Eps8l3 UTSW 3 107,790,141 (GRCm39) missense probably benign
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 PCR Primer
(F):5'- TGGAAGCCTCTTCAAGAGCCCAAC -3'
(R):5'- CCTTGCCTCTACCTGGTTTGAGATG -3'

Sequencing Primer
(F):5'- GTATTGAGAAACATGGTCTTCCCC -3'
(R):5'- CTCTACCTGGTTTGAGATGTGTATTG -3'
Posted On 2013-07-11