Incidental Mutation 'IGL01918:Eps15l1'
ID 180004
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eps15l1
Ensembl Gene ENSMUSG00000006276
Gene Name epidermal growth factor receptor pathway substrate 15-like 1
Synonyms Eps15-rs, 9830147J04Rik, Eps15R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL01918
Quality Score
Status
Chromosome 8
Chromosomal Location 73094843-73175304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73121756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 714 (M714V)
Ref Sequence ENSEMBL: ENSMUSP00000148468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163643] [ENSMUST00000212121]
AlphaFold Q60902
Predicted Effect probably benign
Transcript: ENSMUST00000163643
AA Change: M745V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: M745V

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: M714V

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212950
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,097,098 (GRCm39) Q71R probably benign Het
Ankfy1 T C 11: 72,631,281 (GRCm39) V409A probably benign Het
Ap4m1 A G 5: 138,171,106 (GRCm39) T69A probably damaging Het
B3gat2 A T 1: 23,884,209 (GRCm39) K306* probably null Het
Calr A G 8: 85,569,479 (GRCm39) probably benign Het
Ccdc54 C T 16: 50,411,215 (GRCm39) W17* probably null Het
Cd68 T C 11: 69,555,927 (GRCm39) S204G possibly damaging Het
Cep128 A T 12: 91,200,984 (GRCm39) I342K probably damaging Het
Ces1d T A 8: 93,904,703 (GRCm39) I346L probably benign Het
Cfap70 T A 14: 20,475,467 (GRCm39) D418V possibly damaging Het
Cntnap4 A T 8: 113,478,866 (GRCm39) R197S possibly damaging Het
Ddx31 G T 2: 28,764,176 (GRCm39) V461F probably damaging Het
Fshb A T 2: 106,889,272 (GRCm39) F11I probably benign Het
Fsip2 T G 2: 82,822,482 (GRCm39) C6072G possibly damaging Het
Fuz T G 7: 44,546,383 (GRCm39) L93R probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm8991 G A 5: 16,935,678 (GRCm39) noncoding transcript Het
Itga11 C A 9: 62,680,278 (GRCm39) N973K probably benign Het
Lca5 T A 9: 83,305,201 (GRCm39) T202S probably damaging Het
Lrp1 G A 10: 127,390,458 (GRCm39) L3053F probably damaging Het
Mapk13 T C 17: 28,994,304 (GRCm39) Y129H probably damaging Het
Mast1 T A 8: 85,647,838 (GRCm39) H512L probably damaging Het
Mlip T C 9: 77,081,281 (GRCm39) N213S probably damaging Het
Mtcl1 C T 17: 66,675,263 (GRCm39) G734R possibly damaging Het
Myo9a T A 9: 59,686,985 (GRCm39) I30N probably damaging Het
Or4b13 A G 2: 90,082,675 (GRCm39) I219T probably damaging Het
Pctp T C 11: 89,878,162 (GRCm39) D124G probably benign Het
Phc3 A G 3: 30,968,565 (GRCm39) probably null Het
Plat T A 8: 23,270,453 (GRCm39) F457I possibly damaging Het
Snw1 T C 12: 87,502,438 (GRCm39) K319E probably benign Het
Sox8 A G 17: 25,789,111 (GRCm39) L129P probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stc1 A T 14: 69,269,103 (GRCm39) probably benign Het
Szt2 A G 4: 118,241,450 (GRCm39) probably benign Het
Tmem81 T A 1: 132,435,698 (GRCm39) V168D probably damaging Het
Ttc41 C A 10: 86,549,054 (GRCm39) Q83K probably damaging Het
Ugt1a5 T C 1: 88,094,267 (GRCm39) V165A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps33b A G 7: 79,937,560 (GRCm39) probably null Het
Zap70 T C 1: 36,817,868 (GRCm39) Y290H possibly damaging 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
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
R0799:Eps15l1 UTSW 8 73,099,929 (GRCm39) missense probably damaging 0.99
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
Posted On 2014-05-07