Incidental Mutation 'IGL01316:Eps15l1'
ID73837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eps15l1
Ensembl Gene ENSMUSG00000006276
Gene Nameepidermal growth factor receptor pathway substrate 15-like 1
Synonyms9830147J04Rik, Eps15-rs, Eps15R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.216) question?
Stock #IGL01316
Quality Score
Status
Chromosome8
Chromosomal Location72340999-72421460 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 72389414 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 184 (F184L)
Ref Sequence ENSEMBL: ENSMUSP00000148468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163643] [ENSMUST00000212121] [ENSMUST00000212590]
Predicted Effect possibly damaging
Transcript: ENSMUST00000163643
AA Change: F184L

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: F184L

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 possibly damaging
Transcript: ENSMUST00000212121
AA Change: F184L

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212590
AA Change: F184L

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212950
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 122,141,755 V326A probably damaging Het
Aldh1l1 A G 6: 90,598,380 D883G probably damaging Het
Ankk1 A G 9: 49,420,484 probably benign Het
Cacna1s T C 1: 136,118,964 V1796A probably benign Het
Ccdc186 A C 19: 56,813,413 C91G probably benign Het
Clec5a T C 6: 40,582,262 T63A probably benign Het
Cyp3a11 T A 5: 145,855,151 K477N possibly damaging Het
Dram2 T A 3: 106,572,980 V116E possibly damaging Het
Dram2 T C 3: 106,571,634 Y181H probably benign Het
Greb1 T A 12: 16,698,586 H1102L probably benign Het
Inpp5f G A 7: 128,690,706 probably benign Het
Kcng1 T C 2: 168,269,040 N68S probably damaging Het
Klhl41 A G 2: 69,674,724 D457G probably benign Het
Krt2 T C 15: 101,811,211 R675G probably benign Het
Med13l T A 5: 118,762,781 V2200D probably damaging Het
Mme T A 3: 63,340,159 probably benign Het
Nexn A T 3: 152,247,233 F283L probably benign Het
Noxa1 T C 2: 25,086,011 D389G probably benign Het
Olfr135 A G 17: 38,208,497 N84S probably damaging Het
Olfr836 A G 9: 19,121,422 I156V probably benign Het
Parp1 A G 1: 180,592,935 probably benign Het
Pirt T C 11: 66,925,946 S28P probably damaging Het
Ros1 A G 10: 52,087,879 probably null Het
Sdk2 T C 11: 113,867,965 T478A probably benign Het
Secisbp2 T C 13: 51,654,516 S106P probably benign Het
Shroom1 C T 11: 53,465,558 A416V probably damaging Het
Ski C T 4: 155,221,686 A279T probably damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tab2 A G 10: 7,924,704 V28A probably damaging Het
Tmem126a G A 7: 90,452,719 P91S probably damaging Het
Ucma T C 2: 4,981,231 probably benign Het
Other mutations in Eps15l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Eps15l1 APN 8 72384838 nonsense probably null
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
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
R7500:Eps15l1 UTSW 8 72382790 missense probably damaging 1.00
Z1088:Eps15l1 UTSW 8 72386901 missense probably damaging 0.99
Posted On2013-10-07