Incidental Mutation 'R2213:Eps15'
ID 239510
Institutional Source Beutler Lab
Gene Symbol Eps15
Ensembl Gene ENSMUSG00000028552
Gene Name epidermal growth factor receptor pathway substrate 15
Synonyms 2410112D09Rik
MMRRC Submission 040215-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2213 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 109137465-109245014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109218417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 391 (K391E)
Ref Sequence ENSEMBL: ENSMUSP00000135034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030281] [ENSMUST00000102729] [ENSMUST00000132165] [ENSMUST00000175776] [ENSMUST00000176251]
AlphaFold P42567
Predicted Effect probably damaging
Transcript: ENSMUST00000030281
AA Change: K77E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
AA Change: K77E

DomainStartEndE-ValueType
SCOP:d1bg1a1 37 178 8e-8 SMART
low complexity region 191 202 N/A INTRINSIC
internal_repeat_1 308 341 5.7e-7 PROSPERO
low complexity region 348 371 N/A INTRINSIC
low complexity region 430 440 N/A INTRINSIC
low complexity region 460 478 N/A INTRINSIC
internal_repeat_1 485 517 5.7e-7 PROSPERO
UIM 538 557 3.32e0 SMART
UIM 564 583 1.55e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102729
AA Change: K391E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: K391E

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 noncoding transcript
Transcript: ENSMUST00000126015
Predicted Effect probably damaging
Transcript: ENSMUST00000132165
AA Change: K391E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: K391E

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 damaging
Transcript: ENSMUST00000175776
AA Change: K427E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: K427E

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 damaging
Transcript: ENSMUST00000176251
AA Change: K391E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: K391E

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,326,247 (GRCm39) D78G probably damaging Het
Anxa1 C T 19: 20,360,239 (GRCm39) R124H probably damaging Het
Arhgef4 G A 1: 34,846,230 (GRCm39) probably null Het
C87436 G A 6: 86,422,455 (GRCm39) V10I probably benign Het
Ces1a G T 8: 93,751,853 (GRCm39) P427Q probably damaging Het
Cpm T C 10: 117,495,744 (GRCm39) Y78H probably damaging Het
Csmd3 G A 15: 47,683,843 (GRCm39) T1663I possibly damaging Het
Cul7 T C 17: 46,962,398 (GRCm39) F10L probably damaging Het
Cyp2j5 T C 4: 96,547,852 (GRCm39) N130S probably benign Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddb1 T C 19: 10,585,691 (GRCm39) L135P probably damaging Het
Dixdc1 A G 9: 50,613,245 (GRCm39) S211P probably benign Het
Dnah12 G T 14: 26,460,485 (GRCm39) K970N probably benign Het
Fabp9 A G 3: 10,259,860 (GRCm39) V51A probably damaging Het
Flg T C 3: 93,200,335 (GRCm39) probably benign Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscb A T 12: 64,520,890 (GRCm39) I192N possibly damaging Het
Galntl5 A G 5: 25,422,527 (GRCm39) I333V probably benign Het
Gcnt3 A T 9: 69,941,989 (GRCm39) V193E probably benign Het
Gle1 T C 2: 29,839,313 (GRCm39) F535S probably damaging Het
Gpr87 A T 3: 59,086,465 (GRCm39) S347T probably damaging Het
Gstm2 C T 3: 107,893,409 (GRCm39) R18H probably damaging Het
H1f7 T A 15: 98,154,219 (GRCm39) Q310L unknown Het
Haus6 C T 4: 86,500,229 (GRCm39) E927K possibly damaging Het
Hunk A G 16: 90,229,505 (GRCm39) N122S probably damaging Het
Itih4 T A 14: 30,612,670 (GRCm39) V232E probably damaging Het
Jag1 G T 2: 136,931,812 (GRCm39) D586E probably benign Het
Klk1b1 T C 7: 43,619,905 (GRCm39) S155P probably damaging Het
Lama1 G T 17: 68,084,029 (GRCm39) G1424* probably null Het
Lrp1 T A 10: 127,376,571 (GRCm39) N4279I probably damaging Het
Lrrc43 G A 5: 123,641,640 (GRCm39) V525I possibly damaging Het
Lrrc4c G A 2: 97,460,816 (GRCm39) V481M probably benign Het
Mecr T A 4: 131,581,126 (GRCm39) probably null Het
Megf10 T A 18: 57,421,081 (GRCm39) Y906* probably null Het
Mpdz A G 4: 81,228,409 (GRCm39) F1319L probably damaging Het
Mtf2 A G 5: 108,248,780 (GRCm39) E364G possibly damaging Het
Nelfe T A 17: 35,072,859 (GRCm39) D160E probably benign Het
Nin A G 12: 70,092,128 (GRCm39) L727P probably damaging Het
Npat A G 9: 53,463,681 (GRCm39) T155A probably benign Het
Nup58 T C 14: 60,476,945 (GRCm39) D242G probably benign Het
Or4a78 A T 2: 89,497,891 (GRCm39) L113Q probably damaging Het
Pnlip T C 19: 58,662,202 (GRCm39) V116A probably benign Het
Prl7a2 T A 13: 27,849,051 (GRCm39) L79F probably benign Het
Rbm25 A T 12: 83,722,856 (GRCm39) I760L probably benign Het
Rbms3 A T 9: 116,788,534 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps10 C A 17: 27,849,473 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,863,159 (GRCm39) E10G possibly damaging Het
Smad2 A T 18: 76,437,697 (GRCm39) T434S probably damaging Het
Sox30 C T 11: 45,875,679 (GRCm39) S477F probably damaging Het
Speer4a3 G T 5: 26,158,175 (GRCm39) T59K probably benign Het
Stat4 A T 1: 52,053,014 (GRCm39) D65V probably damaging Het
Strip2 A G 6: 29,931,147 (GRCm39) D366G probably damaging Het
Syngap1 C A 17: 27,172,043 (GRCm39) R84S probably damaging Het
Synpo2l A G 14: 20,710,734 (GRCm39) Y629H probably damaging Het
Taf4 A T 2: 179,577,683 (GRCm39) probably null Het
Ttc21a A G 9: 119,769,527 (GRCm39) H68R probably benign Het
Txndc8 T A 4: 57,984,199 (GRCm39) Q144L probably benign Het
Tyr T G 7: 87,142,086 (GRCm39) Q158P probably damaging Het
Uchl3 T A 14: 101,904,106 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,332,123 (GRCm39) K298R probably benign Het
Wrn T C 8: 33,747,043 (GRCm39) N891S probably benign Het
Ylpm1 A G 12: 85,116,492 (GRCm39) S2125G probably benign 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
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'- TCAAGTGCTTTAGTCCTCCAATAC -3'
(R):5'- AACGCCTTCATAAAGCAGCTG -3'

Sequencing Primer
(F):5'- TGCTTTAGTCCTCCAATACAAAATAC -3'
(R):5'- CACTAACAAGCAGGCAATGTTTTC -3'
Posted On 2014-10-15