Incidental Mutation 'R0928:Eps15'
ID 80626
Institutional Source Beutler Lab
Gene Symbol Eps15
Ensembl Gene ENSMUSG00000028552
Gene Name epidermal growth factor receptor pathway substrate 15
Synonyms 2410112D09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0928 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 109137465-109245014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109170160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 154 (V154A)
Ref Sequence ENSEMBL: ENSMUSP00000118949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102729] [ENSMUST00000132165] [ENSMUST00000175776] [ENSMUST00000176251] [ENSMUST00000177089]
AlphaFold P42567
Predicted Effect possibly damaging
Transcript: ENSMUST00000102729
AA Change: V154A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: V154A

DomainStartEndE-ValueType
EH 8 103 7.03e-29 SMART
EFh 52 80 4.74e-3 SMART
EH 121 215 2.91e-53 SMART
EFh 164 192 4.67e-2 SMART
EH 217 313 1.16e-47 SMART
EFh 227 255 1.2e1 SMART
EFh 261 289 6.82e1 SMART
coiled coil region 329 502 N/A INTRINSIC
low complexity region 505 516 N/A INTRINSIC
internal_repeat_2 622 655 1.25e-5 PROSPERO
low complexity region 662 685 N/A INTRINSIC
low complexity region 744 754 N/A INTRINSIC
low complexity region 774 792 N/A INTRINSIC
internal_repeat_2 799 831 1.25e-5 PROSPERO
UIM 852 871 3.32e0 SMART
UIM 878 897 1.55e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000132165
AA Change: V154A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: V154A

DomainStartEndE-ValueType
EH 8 103 7.03e-29 SMART
EFh 52 80 4.74e-3 SMART
EH 121 215 2.91e-53 SMART
EFh 164 192 4.67e-2 SMART
EH 217 313 1.16e-47 SMART
EFh 227 255 1.2e1 SMART
EFh 261 289 6.82e1 SMART
coiled coil region 329 429 N/A INTRINSIC
low complexity region 529 552 N/A INTRINSIC
low complexity region 611 621 N/A INTRINSIC
low complexity region 641 659 N/A INTRINSIC
UIM 719 738 3.32e0 SMART
UIM 745 764 1.55e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141751
Predicted Effect possibly damaging
Transcript: ENSMUST00000175776
AA Change: V154A

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: V154A

DomainStartEndE-ValueType
EH 8 103 7.03e-29 SMART
EFh 52 80 4.74e-3 SMART
EH 121 215 2.91e-53 SMART
EFh 164 192 4.67e-2 SMART
EH 253 349 4.38e-48 SMART
EFh 263 291 1.2e1 SMART
EFh 297 325 6.82e1 SMART
coiled coil region 365 538 N/A INTRINSIC
low complexity region 541 552 N/A INTRINSIC
internal_repeat_2 658 691 1.92e-5 PROSPERO
low complexity region 698 721 N/A INTRINSIC
low complexity region 780 790 N/A INTRINSIC
low complexity region 810 828 N/A INTRINSIC
internal_repeat_2 835 867 1.92e-5 PROSPERO
UIM 888 907 3.32e0 SMART
UIM 914 933 1.55e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176251
AA Change: V154A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: V154A

DomainStartEndE-ValueType
EH 8 103 7.03e-29 SMART
EFh 52 80 4.74e-3 SMART
EH 121 215 2.91e-53 SMART
EFh 164 192 4.67e-2 SMART
EH 217 313 1.16e-47 SMART
EFh 227 255 1.2e1 SMART
EFh 261 289 6.82e1 SMART
coiled coil region 329 502 N/A INTRINSIC
low complexity region 505 516 N/A INTRINSIC
low complexity region 662 685 N/A INTRINSIC
low complexity region 744 754 N/A INTRINSIC
low complexity region 774 791 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177089
SMART Domains Protein: ENSMUSP00000134922
Gene: ENSMUSG00000028552

DomainStartEndE-ValueType
SCOP:d1qjta_ 4 69 4e-5 SMART
PDB:1QJT|A 15 72 9e-36 PDB
Blast:EH 15 84 3e-39 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 93.0%
  • 20x: 75.6%
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 part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygotes for a null allele show increased marginal zone B cell number with no changes in precursor cells, proliferation, apoptosis, migration or B cell responses. Homozygotes for a different null allele show decreased mean corpuscular hemoglobin (MCH), decreased MCH concentration, and dermatitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,388,333 (GRCm39) D179V probably benign Het
Abcc1 T C 16: 14,207,849 (GRCm39) probably null Het
Adad1 G A 3: 37,130,889 (GRCm39) probably null Het
Apobec4 T C 1: 152,632,028 (GRCm39) Y19H probably damaging Het
Bco2 T A 9: 50,457,231 (GRCm39) T104S probably damaging Het
Bnc1 A G 7: 81,623,250 (GRCm39) V659A probably benign Het
Ccdc168 C A 1: 44,096,388 (GRCm39) S1570I possibly damaging Het
Ccs T C 19: 4,875,988 (GRCm39) E184G probably damaging Het
Cfap70 T G 14: 20,493,987 (GRCm39) K97N probably damaging Het
Cracdl T C 1: 37,663,663 (GRCm39) D745G possibly damaging Het
Daam2 T C 17: 49,795,255 (GRCm39) I313V probably benign Het
Dach1 T C 14: 98,153,268 (GRCm39) S467G probably damaging Het
Dnah11 A G 12: 118,009,297 (GRCm39) S2122P probably damaging Het
Dnah3 T A 7: 119,629,274 (GRCm39) D1427V probably damaging Het
Dnai1 T C 4: 41,602,566 (GRCm39) F97L possibly damaging Het
Dsc1 A T 18: 20,243,306 (GRCm39) probably null Het
En2 A T 5: 28,375,329 (GRCm39) K291* probably null Het
Etnk1 A G 6: 143,130,429 (GRCm39) I183V probably benign Het
Fcrlb A T 1: 170,735,509 (GRCm39) V255D possibly damaging Het
Fry A T 5: 150,360,549 (GRCm39) E52V probably damaging Het
Garre1 A T 7: 33,947,671 (GRCm39) probably null Het
Gm57858 A C 3: 36,079,515 (GRCm39) N258K possibly damaging Het
Gtf2h4 T C 17: 35,981,777 (GRCm39) Y152C probably damaging Het
Hao1 C A 2: 134,347,536 (GRCm39) L256F possibly damaging Het
Helz T A 11: 107,517,519 (GRCm39) I685K probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Izumo2 A T 7: 44,364,847 (GRCm39) I171F possibly damaging Het
Krt87 C A 15: 101,389,161 (GRCm39) C57F probably benign Het
Mapkbp1 A G 2: 119,845,849 (GRCm39) H400R probably benign Het
Megf6 T A 4: 154,261,504 (GRCm39) V43E probably damaging Het
Mmut T C 17: 41,248,174 (GRCm39) I67T probably benign Het
Ninl A T 2: 150,805,395 (GRCm39) V396E probably damaging Het
Nvl A T 1: 180,921,467 (GRCm39) V844E probably benign Het
Or2b6 C T 13: 21,823,126 (GRCm39) C189Y probably damaging Het
P2rx3 A T 2: 84,865,642 (GRCm39) M1K probably null Het
Pabpn1l T C 8: 123,349,358 (GRCm39) T20A probably benign Het
Ppp3r2 C A 4: 49,681,439 (GRCm39) probably null Het
Prmt6 C T 3: 110,157,998 (GRCm39) G97D probably damaging Het
Prmt9 T C 8: 78,307,805 (GRCm39) V823A probably damaging Het
Skic3 T G 13: 76,261,711 (GRCm39) L142W probably damaging Het
Skint11 C A 4: 114,101,798 (GRCm39) D79E possibly damaging Het
Slc17a8 T A 10: 89,434,545 (GRCm39) H194L probably damaging Het
Slco6c1 T A 1: 97,032,573 (GRCm39) I293F possibly damaging Het
Tcl1b4 A T 12: 105,168,865 (GRCm39) H43L probably benign Het
Tm9sf1 T C 14: 55,873,914 (GRCm39) D528G probably damaging Het
Tpbpb C T 13: 61,049,989 (GRCm39) V47I probably benign Het
Ttn G T 2: 76,737,876 (GRCm39) probably benign Het
Usp28 T G 9: 48,942,191 (GRCm39) S341A possibly damaging Het
Vwa5a T C 9: 38,639,303 (GRCm39) Y345H probably damaging Het
Wdr11 C A 7: 129,208,377 (GRCm39) D377E probably damaging Het
Zer1 A G 2: 29,991,775 (GRCm39) probably null Het
Other mutations in Eps15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Eps15 APN 4 109,166,346 (GRCm39) missense probably damaging 0.99
IGL01372:Eps15 APN 4 109,179,303 (GRCm39) missense probably damaging 1.00
IGL01642:Eps15 APN 4 109,223,670 (GRCm39) missense probably benign 0.00
IGL02207:Eps15 APN 4 109,161,945 (GRCm39) splice site probably benign
IGL02394:Eps15 APN 4 109,170,162 (GRCm39) missense probably damaging 1.00
IGL02755:Eps15 APN 4 109,186,895 (GRCm39) missense probably benign 0.17
R0117:Eps15 UTSW 4 109,240,016 (GRCm39) missense probably damaging 0.96
R0414:Eps15 UTSW 4 109,223,677 (GRCm39) missense probably damaging 0.96
R1545:Eps15 UTSW 4 109,169,526 (GRCm39) missense probably benign 0.00
R1581:Eps15 UTSW 4 109,220,383 (GRCm39) missense probably benign 0.15
R1627:Eps15 UTSW 4 109,227,754 (GRCm39) missense probably damaging 1.00
R1756:Eps15 UTSW 4 109,170,115 (GRCm39) nonsense probably null
R1799:Eps15 UTSW 4 109,240,034 (GRCm39) missense probably damaging 1.00
R1906:Eps15 UTSW 4 109,181,398 (GRCm39) missense possibly damaging 0.89
R1916:Eps15 UTSW 4 109,226,171 (GRCm39) missense probably damaging 1.00
R2042:Eps15 UTSW 4 109,161,964 (GRCm39) missense probably damaging 0.98
R2046:Eps15 UTSW 4 109,227,793 (GRCm39) missense probably damaging 1.00
R2163:Eps15 UTSW 4 109,227,866 (GRCm39) missense probably damaging 0.98
R2213:Eps15 UTSW 4 109,218,417 (GRCm39) missense probably damaging 1.00
R2362:Eps15 UTSW 4 109,218,427 (GRCm39) missense probably benign 0.06
R3151:Eps15 UTSW 4 109,223,419 (GRCm39) missense probably benign 0.02
R3712:Eps15 UTSW 4 109,166,374 (GRCm39) missense probably damaging 1.00
R3727:Eps15 UTSW 4 109,227,882 (GRCm39) splice site probably benign
R4361:Eps15 UTSW 4 109,237,228 (GRCm39) critical splice donor site probably null
R4381:Eps15 UTSW 4 109,223,727 (GRCm39) unclassified probably benign
R4466:Eps15 UTSW 4 109,223,727 (GRCm39) unclassified probably benign
R4740:Eps15 UTSW 4 109,200,387 (GRCm39) missense probably damaging 1.00
R4797:Eps15 UTSW 4 109,223,727 (GRCm39) unclassified probably benign
R4799:Eps15 UTSW 4 109,223,727 (GRCm39) unclassified probably benign
R4801:Eps15 UTSW 4 109,181,414 (GRCm39) missense possibly damaging 0.95
R4802:Eps15 UTSW 4 109,181,414 (GRCm39) missense possibly damaging 0.95
R4864:Eps15 UTSW 4 109,223,727 (GRCm39) unclassified probably benign
R4954:Eps15 UTSW 4 109,227,875 (GRCm39) splice site probably null
R5134:Eps15 UTSW 4 109,223,727 (GRCm39) unclassified probably benign
R5386:Eps15 UTSW 4 109,178,422 (GRCm39) missense possibly damaging 0.48
R5768:Eps15 UTSW 4 109,220,373 (GRCm39) splice site probably null
R5870:Eps15 UTSW 4 109,218,507 (GRCm39) missense probably damaging 0.98
R6245:Eps15 UTSW 4 109,240,063 (GRCm39) missense possibly damaging 0.66
R6290:Eps15 UTSW 4 109,220,395 (GRCm39) missense probably benign 0.37
R6291:Eps15 UTSW 4 109,162,900 (GRCm39) frame shift probably null
R6493:Eps15 UTSW 4 109,226,145 (GRCm39) missense probably damaging 1.00
R6813:Eps15 UTSW 4 109,137,599 (GRCm39) splice site probably null
R6885:Eps15 UTSW 4 109,166,361 (GRCm39) missense probably damaging 0.99
R6913:Eps15 UTSW 4 109,218,427 (GRCm39) missense probably benign 0.06
R7362:Eps15 UTSW 4 109,223,439 (GRCm39) critical splice donor site probably null
R7461:Eps15 UTSW 4 109,186,922 (GRCm39) missense probably damaging 1.00
R7613:Eps15 UTSW 4 109,186,922 (GRCm39) missense probably damaging 1.00
R7923:Eps15 UTSW 4 109,173,069 (GRCm39) missense possibly damaging 0.90
R7966:Eps15 UTSW 4 109,178,340 (GRCm39) missense probably damaging 0.98
R8792:Eps15 UTSW 4 109,162,908 (GRCm39) missense probably benign 0.00
R8826:Eps15 UTSW 4 109,169,505 (GRCm39) missense possibly damaging 0.82
R9296:Eps15 UTSW 4 109,173,089 (GRCm39) missense possibly damaging 0.72
R9369:Eps15 UTSW 4 109,240,034 (GRCm39) missense probably damaging 1.00
R9663:Eps15 UTSW 4 109,179,270 (GRCm39) missense probably benign 0.04
X0023:Eps15 UTSW 4 109,200,554 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGATCTTCAAAGCATCCCATCTCTTGC -3'
(R):5'- gcctGTACTCATCTGTacacacaccat -3'

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