Incidental Mutation 'R0799:Eps15l1'
ID 76534
Institutional Source Beutler Lab
Gene Symbol Eps15l1
Ensembl Gene ENSMUSG00000006276
Gene Name epidermal growth factor receptor pathway substrate 15-like 1
Synonyms Eps15-rs, 9830147J04Rik, Eps15R
MMRRC Submission 038979-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R0799 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 73094843-73175304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73099929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 821 (D821N)
Ref Sequence ENSEMBL: ENSMUSP00000129739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163643] [ENSMUST00000212121]
AlphaFold Q60902
Predicted Effect probably damaging
Transcript: ENSMUST00000163643
AA Change: D821N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: D821N

DomainStartEndE-ValueType
EH 8 103 1.45e-21 SMART
EFh 52 80 6.56e0 SMART
EH 120 214 6.1e-47 SMART
EFh 163 191 4.35e-2 SMART
low complexity region 241 255 N/A INTRINSIC
EH 266 362 5.08e-44 SMART
EFh 276 304 1.09e0 SMART
coiled coil region 381 564 N/A INTRINSIC
internal_repeat_2 615 656 1.56e-6 PROSPERO
low complexity region 661 678 N/A INTRINSIC
low complexity region 701 722 N/A INTRINSIC
low complexity region 728 743 N/A INTRINSIC
low complexity region 746 764 N/A INTRINSIC
low complexity region 775 790 N/A INTRINSIC
internal_repeat_2 809 839 1.56e-6 PROSPERO
low complexity region 840 853 N/A INTRINSIC
UIM 863 882 3.98e1 SMART
UIM 889 907 3.76e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212257
Meta Mutation Damage Score 0.0891 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,100,101 (GRCm39) T33I possibly damaging Het
4930555F03Rik A G 8: 49,948,474 (GRCm39) noncoding transcript Het
Abcf3 T C 16: 20,378,084 (GRCm39) L538P probably damaging Het
Adamts6 T C 13: 104,450,779 (GRCm39) S321P probably damaging Het
Adgra2 G A 8: 27,602,523 (GRCm39) R362H probably damaging Het
AI597479 T G 1: 43,150,330 (GRCm39) S147A probably benign Het
Ajm1 A G 2: 25,468,574 (GRCm39) S446P possibly damaging Het
Ampd3 T C 7: 110,399,904 (GRCm39) F340L probably damaging Het
Atad3a A G 4: 155,831,927 (GRCm39) V449A probably damaging Het
Bmal2 T C 6: 146,724,751 (GRCm39) probably benign Het
Bpifa6 A T 2: 153,834,192 (GRCm39) D328V probably benign Het
Brca2 T C 5: 150,483,658 (GRCm39) S2903P probably damaging Het
Cct3 A T 3: 88,206,652 (GRCm39) probably null Het
Cdk4 A G 10: 126,900,863 (GRCm39) T172A probably damaging Het
Chd5 A G 4: 152,468,616 (GRCm39) D1760G probably damaging Het
Chd7 A G 4: 8,801,310 (GRCm39) probably benign Het
Crybb2 T C 5: 113,210,037 (GRCm39) I109V probably benign Het
Csmd3 A G 15: 48,048,780 (GRCm39) probably benign Het
Dach1 G T 14: 98,406,051 (GRCm39) T232K possibly damaging Het
Dnlz A G 2: 26,241,485 (GRCm39) V81A possibly damaging Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Fam186a G A 15: 99,839,893 (GRCm39) P2117L probably damaging Het
Fam83d T A 2: 158,621,808 (GRCm39) F173Y probably damaging Het
Gm9116 A T 3: 93,817,772 (GRCm39) R214S probably benign Het
Gtpbp1 A G 15: 79,600,401 (GRCm39) I445V probably damaging Het
H2-M2 G A 17: 37,793,640 (GRCm39) T122I probably damaging Het
Hgd C T 16: 37,448,971 (GRCm39) probably benign Het
Hip1r A G 5: 124,135,004 (GRCm39) Y380C probably benign Het
Hspa8 G A 9: 40,715,137 (GRCm39) G389R probably damaging Het
Htt C A 5: 34,975,097 (GRCm39) D622E probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kdm4a A G 4: 118,004,189 (GRCm39) probably null Het
Map3k9 G A 12: 81,769,043 (GRCm39) P1025S probably benign Het
Or8b47 G A 9: 38,435,437 (GRCm39) M136I probably benign Het
Pabpc1l C A 2: 163,873,134 (GRCm39) H135N probably benign Het
Pacsin2 A T 15: 83,263,998 (GRCm39) S346R probably benign Het
Pcdhb20 A G 18: 37,638,938 (GRCm39) Y488C probably damaging Het
Pkdcc G A 17: 83,531,347 (GRCm39) C452Y probably damaging Het
Poglut1 T C 16: 38,355,083 (GRCm39) probably null Het
Prss59 A G 6: 40,905,533 (GRCm39) M41T probably damaging Het
Pxk T C 14: 8,148,123 (GRCm38) F409L probably benign Het
Pygm G A 19: 6,436,048 (GRCm39) probably benign Het
Rabep2 T C 7: 126,037,896 (GRCm39) S223P probably damaging Het
Rpp40 C T 13: 36,086,034 (GRCm39) R109H probably benign Het
Sbf2 T C 7: 109,940,562 (GRCm39) Y1266C possibly damaging Het
Slc5a4a T C 10: 76,012,368 (GRCm39) V346A probably benign Het
Smpd3 G T 8: 106,991,421 (GRCm39) H377Q possibly damaging Het
Sppl2a C A 2: 126,762,227 (GRCm39) probably benign Het
Tas2r134 T C 2: 51,518,385 (GRCm39) I288T probably benign Het
Trim35 T A 14: 66,546,650 (GRCm39) H472Q probably damaging Het
Trpm5 C A 7: 142,632,088 (GRCm39) R907L probably damaging Het
Ube2e2 G T 14: 18,630,393 (GRCm38) S56* probably null Het
Vmn2r88 A C 14: 51,651,959 (GRCm39) R432S possibly damaging Het
Wdr24 A G 17: 26,045,102 (GRCm39) Y279C probably damaging Het
Wdr90 A G 17: 26,079,104 (GRCm39) V246A probably benign Het
Xrn2 T A 2: 146,871,818 (GRCm39) N385K probably benign Het
Zfp28 T A 7: 6,387,182 (GRCm39) S73T possibly damaging Het
Zfp345 T C 2: 150,314,271 (GRCm39) E422G probably benign Het
Zhx2 A G 15: 57,684,709 (GRCm39) E26G probably benign Het
Other mutations in Eps15l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Eps15l1 APN 8 73,138,682 (GRCm39) nonsense probably null
IGL01316:Eps15l1 APN 8 73,143,258 (GRCm39) missense possibly damaging 0.66
IGL01344:Eps15l1 APN 8 73,136,169 (GRCm39) critical splice donor site probably null
IGL01918:Eps15l1 APN 8 73,121,756 (GRCm39) missense possibly damaging 0.49
IGL01982:Eps15l1 APN 8 73,132,919 (GRCm39) missense probably benign 0.28
IGL02305:Eps15l1 APN 8 73,140,853 (GRCm39) missense probably null 1.00
IGL02939:Eps15l1 APN 8 73,138,606 (GRCm39) splice site probably benign
IGL02951:Eps15l1 APN 8 73,112,240 (GRCm39) missense probably benign 0.19
R0025:Eps15l1 UTSW 8 73,135,341 (GRCm39) splice site probably benign
R0025:Eps15l1 UTSW 8 73,135,341 (GRCm39) splice site probably benign
R0030:Eps15l1 UTSW 8 73,126,894 (GRCm39) missense probably benign 0.03
R0030:Eps15l1 UTSW 8 73,126,894 (GRCm39) missense probably benign 0.03
R1300:Eps15l1 UTSW 8 73,145,746 (GRCm39) missense probably damaging 0.99
R2131:Eps15l1 UTSW 8 73,140,712 (GRCm39) missense probably benign 0.05
R2132:Eps15l1 UTSW 8 73,140,712 (GRCm39) missense probably benign 0.05
R2133:Eps15l1 UTSW 8 73,140,712 (GRCm39) missense probably benign 0.05
R3693:Eps15l1 UTSW 8 73,152,904 (GRCm39) splice site probably benign
R4072:Eps15l1 UTSW 8 73,134,128 (GRCm39) missense probably damaging 1.00
R4074:Eps15l1 UTSW 8 73,134,128 (GRCm39) missense probably damaging 1.00
R4076:Eps15l1 UTSW 8 73,134,128 (GRCm39) missense probably damaging 1.00
R4485:Eps15l1 UTSW 8 73,153,531 (GRCm39) missense possibly damaging 0.78
R4592:Eps15l1 UTSW 8 73,095,238 (GRCm39) missense probably damaging 0.96
R4606:Eps15l1 UTSW 8 73,127,760 (GRCm39) missense possibly damaging 0.69
R4981:Eps15l1 UTSW 8 73,132,833 (GRCm39) critical splice donor site probably null
R5496:Eps15l1 UTSW 8 73,136,619 (GRCm39) missense probably benign 0.00
R5502:Eps15l1 UTSW 8 73,132,836 (GRCm39) splice site probably null
R5682:Eps15l1 UTSW 8 73,125,592 (GRCm39) nonsense probably null
R6326:Eps15l1 UTSW 8 73,095,278 (GRCm39) nonsense probably null
R6384:Eps15l1 UTSW 8 73,122,554 (GRCm39) critical splice donor site probably null
R7305:Eps15l1 UTSW 8 73,126,878 (GRCm39) missense probably benign
R7500:Eps15l1 UTSW 8 73,136,634 (GRCm39) missense probably damaging 1.00
R7732:Eps15l1 UTSW 8 73,134,820 (GRCm39) missense probably damaging 1.00
R8980:Eps15l1 UTSW 8 73,127,734 (GRCm39) missense probably benign 0.00
R9065:Eps15l1 UTSW 8 73,145,762 (GRCm39) nonsense probably null
R9238:Eps15l1 UTSW 8 73,095,274 (GRCm39) missense probably damaging 1.00
Z1088:Eps15l1 UTSW 8 73,140,745 (GRCm39) missense probably damaging 0.99
Z1177:Eps15l1 UTSW 8 73,135,281 (GRCm39) missense probably benign 0.37
Z1177:Eps15l1 UTSW 8 73,126,922 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGCCTTACAGAAGCCATCGCAG -3'
(R):5'- AAATCACTCTCCTGGCATGACCTTG -3'

Sequencing Primer
(F):5'- GCAAAGCAGTGTCCATAGC -3'
(R):5'- TGCTCTCCCTAGAGAGACAG -3'
Posted On 2013-10-16