Incidental Mutation 'IGL03331:Epb41l5'
ID416857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epb41l5
Ensembl Gene ENSMUSG00000026383
Gene Nameerythrocyte membrane protein band 4.1 like 5
SynonymsE230025E14Rik, 1700030C16Rik, Epb4.1l5, NBL5, Lulu1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03331
Quality Score
Status
Chromosome1
Chromosomal Location119545037-119649000 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119617419 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 220 (Y220C)
Ref Sequence ENSEMBL: ENSMUSP00000140227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027632] [ENSMUST00000052404] [ENSMUST00000163147] [ENSMUST00000187194] [ENSMUST00000191046]
Predicted Effect probably damaging
Transcript: ENSMUST00000027632
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027632
Gene: ENSMUSG00000026383
AA Change: Y220C

DomainStartEndE-ValueType
B41 39 235 8.64e-68 SMART
FERM_C 239 331 1.07e-34 SMART
FA 336 380 1.16e-12 SMART
low complexity region 412 421 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000052404
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: Y220C

DomainStartEndE-ValueType
B41 39 235 8.64e-68 SMART
FERM_C 239 331 1.07e-34 SMART
FA 336 380 1.16e-12 SMART
low complexity region 412 421 N/A INTRINSIC
coiled coil region 482 512 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163147
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: Y220C

DomainStartEndE-ValueType
B41 39 235 8.64e-68 SMART
FERM_C 239 331 1.07e-34 SMART
FA 336 380 1.16e-12 SMART
low complexity region 420 429 N/A INTRINSIC
coiled coil region 490 520 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187194
SMART Domains Protein: ENSMUSP00000139683
Gene: ENSMUSG00000026383

DomainStartEndE-ValueType
Pfam:FERM_N 47 114 1.7e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189042
Predicted Effect probably damaging
Transcript: ENSMUST00000191046
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140227
Gene: ENSMUSG00000026383
AA Change: Y220C

DomainStartEndE-ValueType
B41 39 235 8.64e-68 SMART
FERM_C 239 331 1.07e-34 SMART
FA 336 380 1.16e-12 SMART
low complexity region 412 421 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a number of different mutations exhibit prenatal lethality and mesodermal and epithelial-mesenchymal transition defects during gastrulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 C A 14: 78,513,865 D361Y probably damaging Het
Arhgap10 T C 8: 77,420,082 N231S probably damaging Het
Asb15 A T 6: 24,556,524 D6V possibly damaging Het
C1qb G A 4: 136,880,293 A253V probably damaging Het
Ccdc178 G T 18: 21,811,583 probably null Het
Chst15 A G 7: 132,262,713 L387P probably damaging Het
Clca3b T A 3: 144,827,963 E550D probably benign Het
Dnah5 A G 15: 28,419,940 K3795E probably damaging Het
Dppa2 T C 16: 48,313,879 probably benign Het
Fkbpl C T 17: 34,645,687 T143I probably damaging Het
Gbe1 T G 16: 70,433,578 Y155D probably damaging Het
Gm1979 T C 5: 26,002,010 K69R probably damaging Het
Gna14 G A 19: 16,609,468 V336M probably damaging Het
Gpr37 A G 6: 25,669,729 V372A probably benign Het
Herc2 C A 7: 56,135,267 probably benign Het
Hist1h2bk T C 13: 22,036,273 probably benign Het
Krt20 T C 11: 99,435,430 probably null Het
Lman1 T C 18: 65,993,204 T284A probably benign Het
Matn2 A T 15: 34,345,357 D170V probably damaging Het
Morc1 C A 16: 48,612,368 probably benign Het
Necap1 T A 6: 122,880,417 S34T probably benign Het
Nt5c3b T C 11: 100,436,215 Y85C probably damaging Het
Olfr1454 T A 19: 13,063,867 L152H probably damaging Het
Olfr720 C A 14: 14,176,017 A22S probably benign Het
Papln A G 12: 83,783,661 M1016V probably benign Het
Pld1 T C 3: 28,085,845 F605L probably damaging Het
Rbms2 T A 10: 128,133,635 probably benign Het
Rps6kb1 A T 11: 86,532,830 V108E probably damaging Het
Scap T C 9: 110,380,236 probably null Het
Serpina1f T C 12: 103,690,891 I307M probably benign Het
Tchh A G 3: 93,443,418 D55G probably damaging Het
Tnfaip3 G T 10: 19,011,601 Q59K possibly damaging Het
Vcan A G 13: 89,661,932 C2287R probably damaging Het
Vmn2r6 T C 3: 64,538,007 N766D probably damaging Het
Other mutations in Epb41l5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Epb41l5 APN 1 119567847 missense probably benign 0.03
IGL01983:Epb41l5 APN 1 119579084 splice site probably benign
IGL02085:Epb41l5 APN 1 119572856 missense probably benign
IGL02834:Epb41l5 APN 1 119623955 missense probably benign 0.22
IGL02975:Epb41l5 APN 1 119579081 splice site probably benign
IGL03001:Epb41l5 APN 1 119617644 missense probably damaging 1.00
R0096:Epb41l5 UTSW 1 119623911 splice site probably benign
R0124:Epb41l5 UTSW 1 119633640 nonsense probably null
R0128:Epb41l5 UTSW 1 119549902 missense possibly damaging 0.81
R0130:Epb41l5 UTSW 1 119549902 missense possibly damaging 0.81
R0241:Epb41l5 UTSW 1 119567779 intron probably null
R0357:Epb41l5 UTSW 1 119609204 missense probably damaging 1.00
R0624:Epb41l5 UTSW 1 119623958 missense probably damaging 1.00
R0711:Epb41l5 UTSW 1 119623911 splice site probably benign
R0848:Epb41l5 UTSW 1 119549954 missense probably benign 0.01
R1340:Epb41l5 UTSW 1 119549131 makesense probably null
R1401:Epb41l5 UTSW 1 119578904 splice site probably benign
R1416:Epb41l5 UTSW 1 119549876 splice site probably benign
R1452:Epb41l5 UTSW 1 119549166 missense probably damaging 1.00
R1646:Epb41l5 UTSW 1 119550022 splice site probably benign
R1889:Epb41l5 UTSW 1 119549172 missense possibly damaging 0.82
R1895:Epb41l5 UTSW 1 119549172 missense possibly damaging 0.82
R3082:Epb41l5 UTSW 1 119609262 missense probably damaging 1.00
R3742:Epb41l5 UTSW 1 119605243 missense probably benign
R4194:Epb41l5 UTSW 1 119608093 missense probably damaging 1.00
R4787:Epb41l5 UTSW 1 119595995 missense probably benign 0.00
R4983:Epb41l5 UTSW 1 119555071 missense probably benign 0.00
R6825:Epb41l5 UTSW 1 119620201 missense possibly damaging 0.54
R6943:Epb41l5 UTSW 1 119609129 missense probably damaging 1.00
R6944:Epb41l5 UTSW 1 119609129 missense probably damaging 1.00
R7334:Epb41l5 UTSW 1 119623949 missense probably damaging 1.00
Z1177:Epb41l5 UTSW 1 119609211 missense probably damaging 0.99
Posted On2016-08-02