Incidental Mutation 'IGL02834:Epb41l5'
ID361559
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 #IGL02834
Quality Score
Status
Chromosome1
Chromosomal Location119545037-119649000 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 119623955 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 100 (G100D)
Ref Sequence ENSEMBL: ENSMUSP00000140227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027632] [ENSMUST00000052404] [ENSMUST00000163147] [ENSMUST00000187194] [ENSMUST00000191046]
Predicted Effect probably benign
Transcript: ENSMUST00000027632
AA Change: G100D

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027632
Gene: ENSMUSG00000026383
AA Change: G100D

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 benign
Transcript: ENSMUST00000052404
AA Change: G100D

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: G100D

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 benign
Transcript: ENSMUST00000163147
AA Change: G100D

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: G100D

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
AA Change: G100D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139683
Gene: ENSMUSG00000026383
AA Change: G100D

DomainStartEndE-ValueType
Pfam:FERM_N 47 114 1.7e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189042
Predicted Effect probably benign
Transcript: ENSMUST00000191046
AA Change: G100D

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140227
Gene: ENSMUSG00000026383
AA Change: G100D

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530099J19Rik A T 13: 19,729,875 noncoding transcript Het
Arhgap10 A T 8: 77,365,100 L430Q probably damaging Het
Cc2d2a C T 5: 43,714,521 R900* probably null Het
Cd14 A G 18: 36,725,503 Y300H probably benign Het
Dgcr8 T A 16: 18,272,759 T584S probably benign Het
Fat4 G A 3: 38,956,744 G1998R probably damaging Het
Fndc3b A T 3: 27,508,503 L279H probably damaging Het
Gabrr1 A G 4: 33,151,426 E114G probably damaging Het
Hrh2 A G 13: 54,215,000 R332G probably benign Het
Kif5a T C 10: 127,245,756 I180V probably benign Het
Lyg2 T A 1: 37,909,967 R105W probably damaging Het
Myc A G 15: 61,987,666 I64V probably damaging Het
Nrcam G A 12: 44,541,075 probably null Het
Ogdhl A G 14: 32,325,946 Y51C probably damaging Het
Olfr1339 C T 4: 118,734,606 L26F probably benign Het
Olfr631 T A 7: 103,929,394 C190* probably null Het
Pdlim3 A G 8: 45,917,532 R290G probably benign Het
Ppm1l G A 3: 69,549,343 A198T probably damaging Het
Prkd2 A G 7: 16,845,934 D119G probably damaging Het
Rapgef3 A T 15: 97,748,265 I820N probably damaging Het
Scnn1b A G 7: 121,912,062 Y324C probably damaging Het
Smc5 G A 19: 23,257,604 R289C probably benign Het
Vmn2r51 T A 7: 10,098,136 R508* probably null Het
Vps13c A T 9: 67,937,855 I2074L probably benign Het
Wdr64 T C 1: 175,805,849 probably benign Het
Ydjc C T 16: 17,147,289 P74L probably benign 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
IGL02975:Epb41l5 APN 1 119579081 splice site probably benign
IGL03001:Epb41l5 APN 1 119617644 missense probably damaging 1.00
IGL03331:Epb41l5 APN 1 119617419 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
Posted On2015-12-18