Incidental Mutation 'R2163:Eps15'
ID 235264
Institutional Source Beutler Lab
Gene Symbol Eps15
Ensembl Gene ENSMUSG00000028552
Gene Name epidermal growth factor receptor pathway substrate 15
Synonyms 2410112D09Rik
MMRRC Submission 040166-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2163 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 109137465-109245014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109227866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 549 (S549R)
Ref Sequence ENSEMBL: ENSMUSP00000118949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030281] [ENSMUST00000102729] [ENSMUST00000132165] [ENSMUST00000175776] [ENSMUST00000176251]
AlphaFold P42567
Predicted Effect possibly damaging
Transcript: ENSMUST00000030281
AA Change: S368R

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
AA Change: S368R

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: S682R

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: S682R

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: ENSMUST00000122138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126015
Predicted Effect probably damaging
Transcript: ENSMUST00000132165
AA Change: S549R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: S549R

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: S718R

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: S718R

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: S682R

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: S682R

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 damaging
Transcript: ENSMUST00000177192
AA Change: S40R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177140
Meta Mutation Damage Score 0.2681 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 97% (76/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I07Rik C A 14: 67,175,997 (GRCm39) T64K unknown Het
Ablim2 T C 5: 35,959,697 (GRCm39) probably benign Het
Acp4 T C 7: 43,905,400 (GRCm39) D107G probably damaging Het
Adamts2 T A 11: 50,679,632 (GRCm39) C871S probably benign Het
Adamts3 A G 5: 89,856,577 (GRCm39) V332A probably damaging Het
Alkal1 C T 1: 6,459,736 (GRCm39) T104M probably benign Het
Astn1 A G 1: 158,329,720 (GRCm39) S192G probably damaging Het
Axdnd1 A C 1: 156,219,573 (GRCm39) V337G probably damaging Het
Baiap2l2 T C 15: 79,143,395 (GRCm39) D481G possibly damaging Het
Cacna2d1 C T 5: 16,567,317 (GRCm39) T964I probably damaging Het
Carf T C 1: 60,186,645 (GRCm39) probably benign Het
Catsper2 T C 2: 121,230,656 (GRCm39) D295G probably damaging Het
Cdh1 A G 8: 107,375,713 (GRCm39) T84A probably benign Het
Chd8 T A 14: 52,436,275 (GRCm39) H2508L possibly damaging Het
Chl1 A T 6: 103,688,192 (GRCm39) T284S probably damaging Het
Chtop A T 3: 90,409,518 (GRCm39) M125K probably benign Het
Col14a1 T A 15: 55,308,041 (GRCm39) probably benign Het
Cplane1 T A 15: 8,232,735 (GRCm39) probably null Het
Cyp2b10 A T 7: 25,624,810 (GRCm39) probably benign Het
Cyp2c70 G A 19: 40,149,163 (GRCm39) H328Y possibly damaging Het
Dcbld1 A G 10: 52,162,452 (GRCm39) T77A probably damaging Het
Dnah6 A T 6: 73,066,729 (GRCm39) probably null Het
Efhd1 A T 1: 87,217,195 (GRCm39) D104V probably damaging Het
Eif5b A T 1: 38,087,875 (GRCm39) D957V probably benign Het
Fbxo3 C A 2: 103,885,330 (GRCm39) H400N probably benign Het
Fcer1a A G 1: 173,050,264 (GRCm39) V86A probably damaging Het
Fh1 A G 1: 175,442,406 (GRCm39) M148T possibly damaging Het
Foxc1 C A 13: 31,992,586 (GRCm39) H466N unknown Het
Gadl1 T A 9: 115,778,626 (GRCm39) I180N possibly damaging Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm21718 T C 14: 51,555,223 (GRCm39) noncoding transcript Het
Hivep2 T A 10: 14,003,970 (GRCm39) Y189* probably null Het
Hoxd13 T A 2: 74,499,413 (GRCm39) S254T possibly damaging Het
Hspd1 A G 1: 55,117,697 (GRCm39) probably benign Het
Il1r1 A G 1: 40,334,023 (GRCm39) M198V probably benign Het
Katnal1 T A 5: 148,825,746 (GRCm39) I362F probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Mybpc1 T C 10: 88,376,804 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,407,291 (GRCm39) probably null Het
Nell2 G T 15: 95,327,859 (GRCm39) N301K probably damaging Het
Nenf T A 1: 191,042,132 (GRCm39) D108V probably damaging Het
Nfkbiz T C 16: 55,638,581 (GRCm39) N293S probably benign Het
Nipbl T C 15: 8,366,403 (GRCm39) K1229E probably damaging Het
Nlrp4a T C 7: 26,152,822 (GRCm39) F631L probably benign Het
Nrp1 T A 8: 129,224,352 (GRCm39) V705E probably damaging Het
Nsf G C 11: 103,754,159 (GRCm39) A459G possibly damaging Het
Or1af1 A G 2: 37,110,089 (GRCm39) E196G probably damaging Het
Or5w10 A G 2: 87,375,238 (GRCm39) S217P probably damaging Het
Pdia4 C T 6: 47,775,341 (GRCm39) D490N possibly damaging Het
Pinlyp T A 7: 24,241,226 (GRCm39) Y192F probably benign Het
Pkd2 T C 5: 104,603,543 (GRCm39) probably benign Het
Ppara A G 15: 85,685,247 (GRCm39) K399E probably benign Het
Ppp4r2 C A 6: 100,842,047 (GRCm39) N169K probably damaging Het
Prom1 T A 5: 44,171,505 (GRCm39) E632V possibly damaging Het
Rpap3 T A 15: 97,578,229 (GRCm39) Y562F possibly damaging Het
Rsph14 T A 10: 74,793,611 (GRCm39) K263N probably damaging Het
Sanbr T C 11: 23,526,826 (GRCm39) probably benign Het
Scn11a T G 9: 119,584,091 (GRCm39) D1508A probably damaging Het
Scn7a T C 2: 66,506,300 (GRCm39) T1530A probably damaging Het
Sec14l1 T A 11: 117,034,108 (GRCm39) probably null Het
Slc4a4 A G 5: 89,362,435 (GRCm39) I840V probably damaging Het
Slco1a8 G A 6: 141,926,664 (GRCm39) T554I possibly damaging Het
Slco1c1 T A 6: 141,505,478 (GRCm39) V419D probably benign Het
Sltm T A 9: 70,498,964 (GRCm39) F1013I probably damaging Het
Spam1 A G 6: 24,796,846 (GRCm39) K266E probably benign Het
Syt15 A G 14: 33,948,073 (GRCm39) E306G probably benign Het
Tap1 A T 17: 34,408,447 (GRCm39) probably null Het
Tbc1d16 G C 11: 119,045,904 (GRCm39) probably benign Het
Tex47 T C 5: 7,355,022 (GRCm39) Y68H probably damaging Het
Ttn T C 2: 76,642,845 (GRCm39) T13264A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubxn2a A T 12: 4,935,757 (GRCm39) F131Y probably damaging Het
Usp40 T C 1: 87,923,580 (GRCm39) probably benign Het
Vmn1r170 T C 7: 23,306,462 (GRCm39) L288P probably damaging Het
Vmn1r175 A G 7: 23,508,352 (GRCm39) Y92H probably benign Het
Wdpcp G T 11: 21,835,015 (GRCm39) E673* probably null Het
Zfr T A 15: 12,162,309 (GRCm39) L820I 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
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'- AGTGGCTCATAAGGAATGCCTC -3'
(R):5'- GGACAACTTCATCCTGAGACAC -3'

Sequencing Primer
(F):5'- GCTCATAAGGAATGCCTCAAAGTGTC -3'
(R):5'- ACTATAAATCATCTACTCCTCTCCAG -3'
Posted On 2014-10-01