Incidental Mutation 'R6813:Eps15'
ID 543633
Institutional Source Beutler Lab
Gene Symbol Eps15
Ensembl Gene ENSMUSG00000028552
Gene Name epidermal growth factor receptor pathway substrate 15
Synonyms 2410112D09Rik
MMRRC Submission 044925-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6813 (G1)
Quality Score 165.009
Status Validated
Chromosome 4
Chromosomal Location 109137465-109245014 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 109137599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102729] [ENSMUST00000132165] [ENSMUST00000175776] [ENSMUST00000176251] [ENSMUST00000177089]
AlphaFold P42567
Predicted Effect probably benign
Transcript: ENSMUST00000102729
SMART Domains Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552

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 probably benign
Transcript: ENSMUST00000132165
SMART Domains Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552

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 probably benign
Transcript: ENSMUST00000175776
SMART Domains Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552

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 probably benign
Transcript: ENSMUST00000176251
SMART Domains Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552

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 null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.9%
Validation Efficiency 100% (61/61)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C A 4: 129,903,284 (GRCm39) Q603K probably damaging Het
Adgrf3 A G 5: 30,402,519 (GRCm39) F503S probably damaging Het
Arfgap3 A T 15: 83,214,794 (GRCm39) M164K probably benign Het
Asb13 G T 13: 3,695,029 (GRCm39) V166F probably damaging Het
Atm T G 9: 53,408,535 (GRCm39) R1103S probably benign Het
Atxn7l1 T C 12: 33,417,123 (GRCm39) I626T probably damaging Het
Brsk2 A G 7: 141,556,214 (GRCm39) I649V probably benign Het
Ccdc25 T A 14: 66,093,882 (GRCm39) M85K probably benign Het
Cdc42bpb A G 12: 111,294,049 (GRCm39) V231A probably damaging Het
Clstn3 T A 6: 124,413,894 (GRCm39) M767L probably benign Het
Col6a6 C T 9: 105,661,140 (GRCm39) R323K probably benign Het
Cplane1 T A 15: 8,258,766 (GRCm39) N2337K probably benign Het
Creld1 A G 6: 113,466,530 (GRCm39) Y199C probably damaging Het
Csf1r T A 18: 61,245,806 (GRCm39) D254E probably benign Het
Dab2ip C T 2: 35,620,485 (GRCm39) Q1118* probably null Het
Dcun1d4 C A 5: 73,678,300 (GRCm39) S98R possibly damaging Het
Disp3 G A 4: 148,344,387 (GRCm39) P505L probably benign Het
Dlec1 A T 9: 118,941,170 (GRCm39) Q240L probably benign Het
Dnai4 T C 4: 102,905,523 (GRCm39) K753E probably benign Het
Edil3 T A 13: 89,437,575 (GRCm39) I392N probably damaging Het
Epha10 T A 4: 124,796,486 (GRCm39) S398R Het
Ephb1 A G 9: 101,887,247 (GRCm39) I464T possibly damaging Het
Fam111a T A 19: 12,564,706 (GRCm39) C152S probably damaging Het
Flt3 T C 5: 147,291,653 (GRCm39) E599G probably damaging Het
Frmd3 T C 4: 74,077,482 (GRCm39) S259P probably benign Het
Hsfy2 A G 1: 56,675,461 (GRCm39) Y359H possibly damaging Het
Ifih1 C T 2: 62,476,037 (GRCm39) V80M possibly damaging Het
Il12rb2 A C 6: 67,269,358 (GRCm39) D818E probably damaging Het
Il4i1 A G 7: 44,489,236 (GRCm39) T334A probably benign Het
Irs2 G A 8: 11,054,659 (GRCm39) Q1258* probably null Het
Lsm1 T G 8: 26,283,721 (GRCm39) H44Q probably benign Het
Mgam A T 6: 40,727,099 (GRCm39) M1257L probably damaging Het
Myc T C 15: 61,860,001 (GRCm39) S225P probably damaging Het
Myh1 T C 11: 67,111,286 (GRCm39) V1575A probably benign Het
Myo9b A G 8: 71,775,949 (GRCm39) D380G probably damaging Het
Ncoa7 T A 10: 30,572,188 (GRCm39) D157V probably damaging Het
Or10g9b T A 9: 39,917,753 (GRCm39) H164L probably benign Het
Or2t44 G T 11: 58,677,472 (GRCm39) Q137H probably benign Het
Or7g16 G A 9: 18,727,188 (GRCm39) T134M probably benign Het
Or8b36 T C 9: 37,937,129 (GRCm39) V9A probably damaging Het
Or8b9 A C 9: 37,766,810 (GRCm39) E232A possibly damaging Het
Pccb A G 9: 100,905,268 (GRCm39) V117A probably damaging Het
Pdp2 C T 8: 105,321,131 (GRCm39) H327Y probably damaging Het
Pdzph1 G T 17: 59,281,431 (GRCm39) Q284K probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Phldb1 A T 9: 44,610,865 (GRCm39) S751R probably damaging Het
Pira1 T C 7: 3,739,002 (GRCm39) H535R probably benign Het
Ppp1r1b T A 11: 98,240,002 (GRCm39) probably null Het
Ppp1r3a A G 6: 14,719,570 (GRCm39) V448A probably benign Het
Pvrig-ps A T 5: 138,340,312 (GRCm39) T28S probably benign Het
Rasgrf1 G A 9: 89,892,537 (GRCm39) probably null Het
Scnn1g T C 7: 121,339,576 (GRCm39) L125S probably damaging Het
Slc30a7 A T 3: 115,775,460 (GRCm39) D221E probably benign Het
Spata31e1 T A 13: 49,940,872 (GRCm39) R279S probably benign Het
Tmem30c A G 16: 57,101,622 (GRCm39) probably null Het
Tmem33 T C 5: 67,421,802 (GRCm39) probably null Het
Ttc29 A T 8: 79,060,249 (GRCm39) T390S probably benign Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Vmn2r81 T A 10: 79,104,439 (GRCm39) F354Y probably benign Het
Vmn2r96 A G 17: 18,802,116 (GRCm39) H119R probably benign Het
Wdr3 G A 3: 100,046,041 (GRCm39) R931* probably null Het
Wtap A T 17: 13,186,397 (GRCm39) N383K probably damaging Het
Zfp808 T C 13: 62,320,849 (GRCm39) Y693H probably damaging 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
R0928:Eps15 UTSW 4 109,170,160 (GRCm39) missense possibly damaging 0.95
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
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'- TGCCTAAACTCAGGTCTCTGTG -3'
(R):5'- AACTTGCCGAGAAGGTGAGC -3'

Sequencing Primer
(F):5'- TTCCGCGGCTCAGACTC -3'
(R):5'- AGAAGGTGAGCGCCGAC -3'
Posted On 2019-04-11