Incidental Mutation 'IGL01444:Eps8l2'
ID 84376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eps8l2
Ensembl Gene ENSMUSG00000025504
Gene Name EPS8-like 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01444
Quality Score
Status
Chromosome 7
Chromosomal Location 140918824-140942933 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 140941288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026577]
AlphaFold Q99K30
Predicted Effect probably benign
Transcript: ENSMUST00000026577
SMART Domains Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504

DomainStartEndE-ValueType
Pfam:PTB 51 181 6.6e-50 PFAM
Pfam:PID 52 175 5.9e-9 PFAM
low complexity region 196 209 N/A INTRINSIC
low complexity region 284 299 N/A INTRINSIC
SH3 498 553 2.11e-15 SMART
PDB:1WWU|A 614 700 2e-46 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155729
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 member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null mutation display late onset progressive hearing loss and gradual deterioration of cochlear hair cell stereocilliary bundles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,146,183 (GRCm39) N517I probably damaging Het
Adam25 G A 8: 41,207,958 (GRCm39) R408H probably benign Het
Adam34l A T 8: 44,079,470 (GRCm39) D251E probably benign Het
Ang C A 14: 51,339,124 (GRCm39) Y88* probably null Het
Ankrd42 T C 7: 92,259,793 (GRCm39) T327A probably damaging Het
Birc6 A G 17: 74,938,682 (GRCm39) D2696G probably damaging Het
Chd3 G A 11: 69,239,568 (GRCm39) T1717M probably benign Het
Csmd1 T A 8: 16,250,069 (GRCm39) M970L probably benign Het
Dhx32 T C 7: 133,350,706 (GRCm39) I121M possibly damaging Het
Dnah11 G A 12: 117,983,967 (GRCm39) S2506F possibly damaging Het
Dscam T A 16: 96,474,909 (GRCm39) I1218F possibly damaging Het
Duox1 T C 2: 122,170,571 (GRCm39) L1197P probably damaging Het
Exoc3 T C 13: 74,355,054 (GRCm39) K49R probably damaging Het
Exoc8 T A 8: 125,622,580 (GRCm39) T596S possibly damaging Het
F13a1 C T 13: 37,102,551 (GRCm39) G391R probably null Het
Fat3 A T 9: 15,910,144 (GRCm39) S1953T probably damaging Het
Gls2 C A 10: 128,037,216 (GRCm39) N252K probably damaging Het
Haus2 G A 2: 120,446,423 (GRCm39) R115K probably benign Het
Ift122 A G 6: 115,861,340 (GRCm39) K262E probably benign Het
Islr2 C T 9: 58,105,661 (GRCm39) C533Y probably damaging Het
Lrp2 A T 2: 69,274,060 (GRCm39) F3997I possibly damaging Het
Nt5c1a C T 4: 123,109,962 (GRCm39) R354W probably damaging Het
Or6c206 T A 10: 129,097,204 (GRCm39) C125S probably damaging Het
Pcolce A T 5: 137,605,738 (GRCm39) S200R probably damaging Het
Plec A G 15: 76,063,497 (GRCm39) V2213A possibly damaging Het
Prmt3 T A 7: 49,430,120 (GRCm39) D74E probably benign Het
Ptk7 A G 17: 46,876,313 (GRCm39) F1046S probably damaging Het
Ranbp2 T C 10: 58,311,122 (GRCm39) Y887H possibly damaging Het
Sanbr T G 11: 23,570,225 (GRCm39) probably benign Het
Sez6l2 G A 7: 126,561,055 (GRCm39) E447K possibly damaging Het
Shld2 C A 14: 33,959,514 (GRCm39) V823F probably damaging Het
Snrnp70 C T 7: 45,036,660 (GRCm39) probably null Het
Timm10 T A 2: 84,660,208 (GRCm39) V49E probably damaging Het
Tox2 T C 2: 163,067,386 (GRCm39) probably benign Het
Usp20 T A 2: 30,888,801 (GRCm39) M1K probably null Het
Usp32 A C 11: 84,949,990 (GRCm39) L223V probably damaging Het
Zeb1 G T 18: 5,767,906 (GRCm39) A806S probably damaging Het
Zeb1 T C 18: 5,767,138 (GRCm39) S550P probably benign Het
Other mutations in Eps8l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Eps8l2 APN 7 140,937,576 (GRCm39) missense probably benign 0.06
IGL01467:Eps8l2 APN 7 140,941,514 (GRCm39) missense probably damaging 1.00
IGL01803:Eps8l2 APN 7 140,938,143 (GRCm39) missense probably benign
IGL02598:Eps8l2 APN 7 140,934,849 (GRCm39) splice site probably benign
IGL02823:Eps8l2 APN 7 140,921,988 (GRCm39) missense probably damaging 1.00
IGL03061:Eps8l2 APN 7 140,937,148 (GRCm39) unclassified probably benign
IGL03112:Eps8l2 APN 7 140,941,649 (GRCm39) missense probably damaging 1.00
IGL03251:Eps8l2 APN 7 140,922,875 (GRCm39) missense probably damaging 1.00
R0057:Eps8l2 UTSW 7 140,922,884 (GRCm39) missense probably benign 0.08
R0133:Eps8l2 UTSW 7 140,942,120 (GRCm39) missense unknown
R0361:Eps8l2 UTSW 7 140,936,112 (GRCm39) missense probably benign 0.05
R0409:Eps8l2 UTSW 7 140,922,893 (GRCm39) missense probably damaging 1.00
R0611:Eps8l2 UTSW 7 140,935,646 (GRCm39) missense probably damaging 1.00
R1487:Eps8l2 UTSW 7 140,941,531 (GRCm39) missense probably benign
R1679:Eps8l2 UTSW 7 140,940,970 (GRCm39) missense probably damaging 1.00
R1914:Eps8l2 UTSW 7 140,941,765 (GRCm39) missense probably damaging 1.00
R1915:Eps8l2 UTSW 7 140,941,765 (GRCm39) missense probably damaging 1.00
R1918:Eps8l2 UTSW 7 140,941,637 (GRCm39) missense probably damaging 0.99
R2098:Eps8l2 UTSW 7 140,935,705 (GRCm39) splice site probably null
R2170:Eps8l2 UTSW 7 140,921,984 (GRCm39) missense probably benign 0.02
R3429:Eps8l2 UTSW 7 140,937,832 (GRCm39) critical splice donor site probably null
R3734:Eps8l2 UTSW 7 140,937,734 (GRCm39) missense probably damaging 1.00
R4296:Eps8l2 UTSW 7 140,938,175 (GRCm39) nonsense probably null
R4701:Eps8l2 UTSW 7 140,937,173 (GRCm39) missense probably damaging 1.00
R4758:Eps8l2 UTSW 7 140,940,286 (GRCm39) missense probably damaging 0.98
R5564:Eps8l2 UTSW 7 140,936,534 (GRCm39) missense possibly damaging 0.94
R5567:Eps8l2 UTSW 7 140,934,920 (GRCm39) missense possibly damaging 0.95
R5570:Eps8l2 UTSW 7 140,934,920 (GRCm39) missense possibly damaging 0.95
R5735:Eps8l2 UTSW 7 140,940,290 (GRCm39) missense probably damaging 1.00
R5893:Eps8l2 UTSW 7 140,937,537 (GRCm39) missense probably damaging 1.00
R5905:Eps8l2 UTSW 7 140,937,746 (GRCm39) missense possibly damaging 0.89
R5927:Eps8l2 UTSW 7 140,936,259 (GRCm39) missense probably benign
R6028:Eps8l2 UTSW 7 140,937,746 (GRCm39) missense possibly damaging 0.89
R6248:Eps8l2 UTSW 7 140,922,015 (GRCm39) missense probably damaging 0.99
R6631:Eps8l2 UTSW 7 140,936,115 (GRCm39) missense probably damaging 1.00
R7152:Eps8l2 UTSW 7 140,935,678 (GRCm39) missense possibly damaging 0.95
R7231:Eps8l2 UTSW 7 140,940,305 (GRCm39) missense probably damaging 1.00
R8071:Eps8l2 UTSW 7 140,922,860 (GRCm39) missense probably damaging 1.00
R9021:Eps8l2 UTSW 7 140,936,117 (GRCm39) missense possibly damaging 0.94
Z1177:Eps8l2 UTSW 7 140,922,008 (GRCm39) missense probably benign 0.02
Posted On 2013-11-11