Incidental Mutation 'R6245:Eps15'
ID 505513
Institutional Source Beutler Lab
Gene Symbol Eps15
Ensembl Gene ENSMUSG00000028552
Gene Name epidermal growth factor receptor pathway substrate 15
Synonyms 2410112D09Rik
MMRRC Submission 044403-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6245 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 109137465-109245014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 109240063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 852 (S852N)
Ref Sequence ENSEMBL: ENSMUSP00000135270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030281] [ENSMUST00000102729] [ENSMUST00000132165] [ENSMUST00000175776] [ENSMUST00000176251]
AlphaFold P42567
Predicted Effect possibly damaging
Transcript: ENSMUST00000030281
AA Change: S502N

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
AA Change: S502N

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 possibly damaging
Transcript: ENSMUST00000102729
AA Change: S816N

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: S816N

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
AA Change: S683N

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: S683N

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 possibly damaging
Transcript: ENSMUST00000175776
AA Change: S852N

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: S852N

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 noncoding transcript
Transcript: ENSMUST00000177140
Predicted Effect probably benign
Transcript: ENSMUST00000177192
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,026,249 (GRCm39) I937T probably damaging Het
Adgrl3 T A 5: 81,836,403 (GRCm39) N720K probably benign Het
Akr1c21 T G 13: 4,625,231 (GRCm39) V54G possibly damaging Het
Alpi G T 1: 87,028,556 (GRCm39) D111E probably damaging Het
Armc3 C T 2: 19,253,516 (GRCm39) T219M probably damaging Het
Bms1 T A 6: 118,373,797 (GRCm39) E780V probably damaging Het
Ccdc159 T C 9: 21,846,864 (GRCm39) S244P probably damaging Het
Cdon T C 9: 35,388,235 (GRCm39) W737R probably damaging Het
Chdh T A 14: 29,757,262 (GRCm39) V395D probably damaging Het
Col22a1 C A 15: 71,845,665 (GRCm39) D366Y probably damaging Het
Cplane1 T C 15: 8,207,902 (GRCm39) Y218H probably benign Het
Crnkl1 T A 2: 145,770,051 (GRCm39) N264I probably benign Het
Ctnnd2 T C 15: 30,905,894 (GRCm39) L847P probably damaging Het
Cyp4a31 A C 4: 115,428,545 (GRCm39) T382P possibly damaging Het
Dcaf8 A T 1: 171,993,434 (GRCm39) M1L probably benign Het
Ddx31 T A 2: 28,734,994 (GRCm39) F52I probably benign Het
Dynlt5 A G 4: 102,845,864 (GRCm39) N32S probably benign Het
Efcab3 A T 11: 104,675,834 (GRCm39) Y1542F probably benign Het
Fchsd1 A T 18: 38,095,828 (GRCm39) L552Q probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Frem2 T C 3: 53,563,245 (GRCm39) M421V probably benign Het
Gm1110 T G 9: 26,832,043 (GRCm39) H36P probably benign Het
Hadha C T 5: 30,325,042 (GRCm39) probably null Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Intu C A 3: 40,629,756 (GRCm39) T362K probably damaging Het
Jaml C T 9: 45,009,217 (GRCm39) T248I probably damaging Het
Kcnj1 A T 9: 32,308,163 (GRCm39) S176C probably damaging Het
Kcnj9 A G 1: 172,153,704 (GRCm39) L140P probably damaging Het
Kif7 T C 7: 79,351,891 (GRCm39) K957R probably damaging Het
Klc4 T A 17: 46,947,605 (GRCm39) I366F probably damaging Het
Lamb2 A G 9: 108,365,398 (GRCm39) probably null Het
Madd T C 2: 91,008,449 (GRCm39) D151G probably benign Het
Man2a1 C A 17: 65,017,821 (GRCm39) A689E probably damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Msmp T C 4: 43,583,909 (GRCm39) Y48C probably damaging Het
Muc6 T C 7: 141,235,086 (GRCm39) N567S probably damaging Het
Nrap A G 19: 56,342,653 (GRCm39) Y748H probably damaging Het
Nrap C T 19: 56,368,307 (GRCm39) A192T possibly damaging Het
Or2p2 T A 13: 21,256,860 (GRCm39) T204S possibly damaging Het
Or2y14 T A 11: 49,404,992 (GRCm39) F176I possibly damaging Het
Or5w15 G C 2: 87,568,240 (GRCm39) Q143E possibly damaging Het
Pcdhb8 T G 18: 37,490,222 (GRCm39) D633E possibly damaging Het
Pcdhb9 G A 18: 37,536,207 (GRCm39) V734M probably damaging Het
Plscr1 T C 9: 92,141,374 (GRCm39) Y21H unknown Het
Ptk2b G T 14: 66,400,515 (GRCm39) P767T probably damaging Het
Ptprz1 T C 6: 23,051,989 (GRCm39) Y1424H probably damaging Het
Sec31a T A 5: 100,534,043 (GRCm39) Q118L probably benign Het
Selenop A G 15: 3,304,216 (GRCm39) S21G probably damaging Het
Shank1 G A 7: 44,001,677 (GRCm39) S1132N unknown Het
Slf1 A G 13: 77,232,502 (GRCm39) L534P probably damaging Het
Sparcl1 T A 5: 104,233,013 (GRCm39) H596L probably damaging Het
Spocd1 C T 4: 129,850,901 (GRCm39) probably null Het
Tbc1d24 A T 17: 24,404,967 (GRCm39) I59N probably damaging Het
Tjp3 G A 10: 81,113,110 (GRCm39) T580I probably benign Het
Tmem154 C T 3: 84,591,603 (GRCm39) T51M possibly damaging Het
Tmem8b G A 4: 43,690,246 (GRCm39) V894I probably benign Het
Trbv20 A T 6: 41,165,840 (GRCm39) L88F possibly damaging Het
Tssk2 A C 16: 17,716,812 (GRCm39) I72L possibly damaging Het
Tub T A 7: 108,626,265 (GRCm39) I267N probably damaging Het
Vmn2r104 A T 17: 20,261,829 (GRCm39) F434I possibly damaging Het
Vmn2r42 T C 7: 8,195,733 (GRCm39) N471S probably damaging Het
Vmn2r94 C G 17: 18,478,385 (GRCm39) G121R probably damaging Het
Wdr72 T C 9: 74,055,505 (GRCm39) S245P probably damaging Het
Zbtb42 A G 12: 112,645,969 (GRCm39) Y48C probably damaging Het
Zdbf2 T C 1: 63,343,592 (GRCm39) V657A possibly damaging Het
Zfp768 A T 7: 126,943,263 (GRCm39) C288* probably null Het
Zfp988 T A 4: 147,416,470 (GRCm39) C301* 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
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
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'- CTGTACACCACCTGCAGTTC -3'
(R):5'- GTAATGAAGTCATCTAAGAACCAGC -3'

Sequencing Primer
(F):5'- GTACACCACCTGCAGTTCTTTAAATG -3'
(R):5'- TTGGAAGACTATGAAGAAATCCTTG -3'
Posted On 2018-02-28