Incidental Mutation 'R0030:Eps15l1'
ID15314
Institutional Source Beutler Lab
Gene Symbol Eps15l1
Ensembl Gene ENSMUSG00000006276
Gene Nameepidermal growth factor receptor pathway substrate 15-like 1
Synonyms9830147J04Rik, Eps15-rs, Eps15R
MMRRC Submission 038324-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.216) question?
Stock #R0030 (G1)
Quality Score
Status Validated
Chromosome8
Chromosomal Location72340999-72421460 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 72373050 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 646 (S646P)
Ref Sequence ENSEMBL: ENSMUSP00000129739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163643] [ENSMUST00000212121] [ENSMUST00000212590]
Predicted Effect probably benign
Transcript: ENSMUST00000163643
AA Change: S646P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: S646P

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
AA Change: S615P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212257
Predicted Effect probably benign
Transcript: ENSMUST00000212590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212950
Meta Mutation Damage Score 0.1272 question?
Coding Region Coverage
  • 1x: 78.5%
  • 3x: 68.6%
  • 10x: 42.5%
  • 20x: 22.6%
Validation Efficiency 97% (72/74)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 A C 6: 140,637,747 S316R probably damaging Het
Brwd1 A G 16: 96,021,256 S1250P probably damaging Het
Cacna1s T C 1: 136,094,989 probably null Het
Cass4 G T 2: 172,427,842 E617* probably null Het
Cct4 T C 11: 23,001,357 probably benign Het
Cdh7 C T 1: 110,138,068 Q691* probably null Het
Crip1 G A 12: 113,153,376 probably null Het
Dnah5 A T 15: 28,451,517 D4367V probably benign Het
Dock3 A G 9: 106,912,313 V1514A possibly damaging Het
Faap24 A T 7: 35,392,860 F211I probably damaging Het
Flrt3 A T 2: 140,660,317 Y464N probably damaging Het
Foxi2 A G 7: 135,411,616 T192A probably damaging Het
Gm7298 T A 6: 121,774,050 F695L probably benign Het
Ifnk T G 4: 35,152,489 V139G probably benign Het
Kif18a A T 2: 109,333,318 I671L probably benign Het
Lcn10 T C 2: 25,685,081 F154L probably damaging Het
Med12l T G 3: 59,248,655 L1198R probably damaging Het
Mmp23 G A 4: 155,651,311 R268* probably null Het
Mrps30 T C 13: 118,382,995 D298G possibly damaging Het
Myh7 T A 14: 54,991,970 T124S probably benign Het
Odf4 T A 11: 68,926,941 E9D probably benign Het
Pqlc2 A G 4: 139,306,453 S52P probably damaging Het
Ptchd4 T A 17: 42,317,108 C153* probably null Het
Scp2 T A 4: 108,107,690 probably null Het
Slc16a10 A G 10: 40,076,823 V225A probably benign Het
Tbk1 A G 10: 121,561,624 V381A probably benign Het
Tdrd6 T C 17: 43,626,591 K1189E possibly damaging Het
Ttc39a C A 4: 109,422,973 H151N probably benign Het
Ush2a C T 1: 188,822,657 T3544M possibly damaging Het
Vnn1 A G 10: 23,900,846 H365R probably benign Het
Other mutations in Eps15l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Eps15l1 APN 8 72384838 nonsense probably null
IGL01316:Eps15l1 APN 8 72389414 missense possibly damaging 0.66
IGL01344:Eps15l1 APN 8 72382325 critical splice donor site probably null
IGL01918:Eps15l1 APN 8 72367912 missense possibly damaging 0.49
IGL01982:Eps15l1 APN 8 72379075 missense probably benign 0.28
IGL02305:Eps15l1 APN 8 72387009 missense probably null 1.00
IGL02939:Eps15l1 APN 8 72384762 splice site probably benign
IGL02951:Eps15l1 APN 8 72358396 missense probably benign 0.19
R0025:Eps15l1 UTSW 8 72381497 splice site probably benign
R0025:Eps15l1 UTSW 8 72381497 splice site probably benign
R0030:Eps15l1 UTSW 8 72373050 missense probably benign 0.03
R0799:Eps15l1 UTSW 8 72346085 missense probably damaging 0.99
R1300:Eps15l1 UTSW 8 72391902 missense probably damaging 0.99
R2131:Eps15l1 UTSW 8 72386868 missense probably benign 0.05
R2132:Eps15l1 UTSW 8 72386868 missense probably benign 0.05
R2133:Eps15l1 UTSW 8 72386868 missense probably benign 0.05
R3693:Eps15l1 UTSW 8 72399060 splice site probably benign
R4072:Eps15l1 UTSW 8 72380284 missense probably damaging 1.00
R4074:Eps15l1 UTSW 8 72380284 missense probably damaging 1.00
R4076:Eps15l1 UTSW 8 72380284 missense probably damaging 1.00
R4485:Eps15l1 UTSW 8 72399687 missense possibly damaging 0.78
R4592:Eps15l1 UTSW 8 72341394 missense probably damaging 0.96
R4606:Eps15l1 UTSW 8 72373916 missense possibly damaging 0.69
R4981:Eps15l1 UTSW 8 72378989 critical splice donor site probably null
R5496:Eps15l1 UTSW 8 72382775 missense probably benign 0.00
R5502:Eps15l1 UTSW 8 72378992 intron probably null
R5682:Eps15l1 UTSW 8 72371748 nonsense probably null
R6326:Eps15l1 UTSW 8 72341434 nonsense probably null
R6384:Eps15l1 UTSW 8 72368710 critical splice donor site probably null
R7305:Eps15l1 UTSW 8 72373034 missense probably benign
Z1088:Eps15l1 UTSW 8 72386901 missense probably damaging 0.99
Posted On2012-12-17