Incidental Mutation 'IGL02598:Eps8l2'
ID299977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eps8l2
Ensembl Gene ENSMUSG00000025504
Gene NameEPS8-like 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02598
Quality Score
Status
Chromosome7
Chromosomal Location141338880-141363020 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 141354936 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026577] [ENSMUST00000143633]
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: ENSMUST00000134845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140025
Predicted Effect probably benign
Transcript: ENSMUST00000143633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146042
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,943,621 M1K probably null Het
Abca13 C T 11: 9,431,898 T3850I probably damaging Het
Abcc4 A T 14: 118,668,369 L95* probably null Het
Acacb A G 5: 114,246,037 Y2209C probably damaging Het
Acadm A G 3: 153,938,544 probably benign Het
Arid2 G A 15: 96,371,536 V1177M probably damaging Het
Atp8a1 A T 5: 67,682,756 probably null Het
BC048403 G A 10: 121,739,971 probably benign Het
Catsperd A G 17: 56,647,815 probably null Het
Cd28 A G 1: 60,763,339 probably benign Het
Cep164 A G 9: 45,770,704 Y1934H probably damaging Het
Cep350 T C 1: 155,862,967 I2377V probably benign Het
Csmd3 T C 15: 47,669,690 K1581E probably damaging Het
Dab2 A T 15: 6,429,366 N232I probably damaging Het
Dyrk4 G A 6: 126,884,019 probably benign Het
Efcab14 T A 4: 115,740,434 C75* probably null Het
Elovl1 T C 4: 118,431,419 probably null Het
Gm4907 A T X: 23,907,471 T404S probably benign Het
Grik1 A T 16: 87,947,984 V460E probably damaging Het
Gtf2f2 A G 14: 76,007,742 S35P probably benign Het
Ifi203 A G 1: 173,935,002 probably benign Het
Ifi209 T C 1: 173,644,715 V374A probably damaging Het
Lars A G 18: 42,227,277 S705P possibly damaging Het
Lcmt1 A G 7: 123,421,648 probably benign Het
Limd1 T A 9: 123,480,171 Y312N probably benign Het
Limd1 T C 9: 123,516,868 S571P probably benign Het
Lin28b A T 10: 45,420,526 D125E possibly damaging Het
Lmtk3 T C 7: 45,793,140 S416P probably damaging Het
Map7d3 T C X: 56,809,786 T446A probably benign Het
Masp1 T A 16: 23,459,631 M523L probably benign Het
Mroh4 C A 15: 74,611,243 probably null Het
Mtmr6 G A 14: 60,300,504 A651T probably damaging Het
Myocd A G 11: 65,183,470 S738P probably benign Het
Olfr1176 A T 2: 88,340,251 I229F possibly damaging Het
Olfr685 A G 7: 105,180,956 V134A probably damaging Het
Olfr714 A T 7: 107,074,716 N296I possibly damaging Het
Olfr803 A T 10: 129,691,273 I256N possibly damaging Het
Olfr984 A T 9: 40,100,565 F308L probably benign Het
Parg G T 14: 32,214,324 V479L probably damaging Het
Pcdhb10 C A 18: 37,413,781 H637N possibly damaging Het
Plekhg2 G A 7: 28,360,475 T1118I possibly damaging Het
Podxl T C 6: 31,524,420 E400G probably damaging Het
Prss54 C A 8: 95,565,709 V81F probably damaging Het
Pzp A G 6: 128,487,457 L1369P probably benign Het
Rfx8 A T 1: 39,695,968 probably benign Het
Rgs6 C T 12: 83,091,797 P302S probably benign Het
Rnf148 A C 6: 23,654,457 I180S probably damaging Het
Sacm1l A G 9: 123,578,996 D350G probably benign Het
Slc33a1 C T 3: 63,943,332 G524S probably benign Het
Slc5a7 A G 17: 54,284,193 V237A probably benign Het
Spink7 T C 18: 62,594,285 D56G probably damaging Het
Syn3 A G 10: 86,467,199 S31P probably damaging Het
Thrb C A 14: 18,008,606 P110Q possibly damaging Het
Vmn2r76 G T 7: 86,228,671 T506K probably benign Het
Vps45 A G 3: 96,031,042 L486P probably benign Het
Zan G A 5: 137,446,211 T1823M unknown Het
Zdhhc6 T A 19: 55,314,527 Q14L probably benign Het
Zfp990 A T 4: 145,536,963 N177I possibly damaging Het
Other mutations in Eps8l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Eps8l2 APN 7 141357663 missense probably benign 0.06
IGL01444:Eps8l2 APN 7 141361375 splice site probably benign
IGL01467:Eps8l2 APN 7 141361601 missense probably damaging 1.00
IGL01803:Eps8l2 APN 7 141358230 missense probably benign
IGL02823:Eps8l2 APN 7 141342075 missense probably damaging 1.00
IGL03061:Eps8l2 APN 7 141357235 unclassified probably benign
IGL03112:Eps8l2 APN 7 141361736 missense probably damaging 1.00
IGL03251:Eps8l2 APN 7 141342962 missense probably damaging 1.00
R0057:Eps8l2 UTSW 7 141342971 missense probably benign 0.08
R0133:Eps8l2 UTSW 7 141362207 missense unknown
R0361:Eps8l2 UTSW 7 141356199 missense probably benign 0.05
R0409:Eps8l2 UTSW 7 141342980 missense probably damaging 1.00
R0611:Eps8l2 UTSW 7 141355733 missense probably damaging 1.00
R1487:Eps8l2 UTSW 7 141361618 missense probably benign
R1679:Eps8l2 UTSW 7 141361057 missense probably damaging 1.00
R1914:Eps8l2 UTSW 7 141361852 missense probably damaging 1.00
R1915:Eps8l2 UTSW 7 141361852 missense probably damaging 1.00
R1918:Eps8l2 UTSW 7 141361724 missense probably damaging 0.99
R2098:Eps8l2 UTSW 7 141355792 splice site probably null
R2170:Eps8l2 UTSW 7 141342071 missense probably benign 0.02
R3429:Eps8l2 UTSW 7 141357919 critical splice donor site probably null
R3734:Eps8l2 UTSW 7 141357821 missense probably damaging 1.00
R4296:Eps8l2 UTSW 7 141358262 nonsense probably null
R4701:Eps8l2 UTSW 7 141357260 missense probably damaging 1.00
R4758:Eps8l2 UTSW 7 141360373 missense probably damaging 0.98
R5564:Eps8l2 UTSW 7 141356621 missense possibly damaging 0.94
R5567:Eps8l2 UTSW 7 141355007 missense possibly damaging 0.95
R5570:Eps8l2 UTSW 7 141355007 missense possibly damaging 0.95
R5735:Eps8l2 UTSW 7 141360377 missense probably damaging 1.00
R5893:Eps8l2 UTSW 7 141357624 missense probably damaging 1.00
R5905:Eps8l2 UTSW 7 141357833 missense possibly damaging 0.89
R5927:Eps8l2 UTSW 7 141356346 missense probably benign
R6028:Eps8l2 UTSW 7 141357833 missense possibly damaging 0.89
R6248:Eps8l2 UTSW 7 141342102 missense probably damaging 0.99
R6631:Eps8l2 UTSW 7 141356202 missense probably damaging 1.00
R7152:Eps8l2 UTSW 7 141355765 missense possibly damaging 0.95
R7231:Eps8l2 UTSW 7 141360392 missense probably damaging 1.00
R8071:Eps8l2 UTSW 7 141342947 missense probably damaging 1.00
Z1177:Eps8l2 UTSW 7 141342095 missense probably benign 0.02
Posted On2015-04-16