Incidental Mutation 'IGL03061:Eps8l2'
ID 409472
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 # IGL03061
Quality Score
Status
Chromosome 7
Chromosomal Location 140918824-140942933 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 140937148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026577] [ENSMUST00000143633]
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: ENSMUST00000140025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146042
Predicted Effect probably benign
Transcript: ENSMUST00000143633
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign Het
Other mutations in Eps8l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Eps8l2 APN 7 140,937,576 (GRCm39) missense probably benign 0.06
IGL01444:Eps8l2 APN 7 140,941,288 (GRCm39) splice site probably benign
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
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 2016-08-02