Incidental Mutation 'IGL01983:Epb41l5'
ID 183544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epb41l5
Ensembl Gene ENSMUSG00000026383
Gene Name erythrocyte membrane protein band 4.1 like 5
Synonyms E230025E14Rik, 1700030C16Rik, NBL5, Epb4.1l5, Lulu1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01983
Quality Score
Status
Chromosome 1
Chromosomal Location 119472767-119576730 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 119506814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052404] [ENSMUST00000163147]
AlphaFold Q8BGS1
Predicted Effect probably benign
Transcript: ENSMUST00000052404
SMART Domains Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383

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
SMART Domains Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383

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 noncoding transcript
Transcript: ENSMUST00000187239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191162
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,880,783 (GRCm39) Q328* probably null Het
Alpk2 T C 18: 65,483,753 (GRCm39) Y85C probably damaging Het
Arhgap31 C T 16: 38,422,127 (GRCm39) R1313Q probably damaging Het
Chrnb1 G T 11: 69,686,555 (GRCm39) R22S probably benign Het
Clec7a G A 6: 129,442,539 (GRCm39) probably benign Het
Cyrib A G 15: 63,809,236 (GRCm39) S251P probably benign Het
Hdac1-ps T A 17: 78,800,282 (GRCm39) D424E probably benign Het
Hydin A C 8: 111,241,527 (GRCm39) I2106L probably benign Het
Igkv3-5 T A 6: 70,640,670 (GRCm39) D50E probably benign Het
Irf2bp1 G T 7: 18,739,220 (GRCm39) A287S possibly damaging Het
Ldb3 G A 14: 34,299,156 (GRCm39) S156L probably benign Het
Lnpep A T 17: 17,751,440 (GRCm39) W942R probably damaging Het
Mst1r T A 9: 107,794,475 (GRCm39) V1218D probably damaging Het
Naxd G T 8: 11,560,218 (GRCm39) probably benign Het
Nol9 T C 4: 152,130,494 (GRCm39) probably null Het
Nus1 T A 10: 52,312,753 (GRCm39) L295Q probably damaging Het
Nxph2 A G 2: 23,289,946 (GRCm39) I99M probably benign Het
Plekhg1 T A 10: 3,895,904 (GRCm39) I432N probably damaging Het
Pon3 A G 6: 5,240,974 (GRCm39) L69S probably damaging Het
Pram1 C A 17: 33,859,835 (GRCm39) A134D probably damaging Het
Serpinb6c T A 13: 34,081,317 (GRCm39) probably benign Het
Stk10 A T 11: 32,539,460 (GRCm39) E280V probably benign Het
Tbc1d10c T A 19: 4,240,708 (GRCm39) Q34L possibly damaging Het
Tnr G A 1: 159,691,349 (GRCm39) V500I probably benign Het
Trim66 G A 7: 109,057,458 (GRCm39) R992* probably null Het
Unc45b A G 11: 82,827,687 (GRCm39) D728G probably benign Het
Usp13 A G 3: 32,971,608 (GRCm39) D696G probably damaging Het
Utrn C T 10: 12,545,525 (GRCm39) V1707I probably benign Het
Vmn2r96 A T 17: 18,817,527 (GRCm39) H368L probably damaging Het
Xrn1 T C 9: 95,855,421 (GRCm39) probably null Het
Zfhx3 C A 8: 109,673,866 (GRCm39) L1639M probably damaging Het
Znfx1 A T 2: 166,898,270 (GRCm39) V218E probably damaging Het
Other mutations in Epb41l5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Epb41l5 APN 1 119,495,577 (GRCm39) missense probably benign 0.03
IGL02085:Epb41l5 APN 1 119,500,586 (GRCm39) missense probably benign
IGL02834:Epb41l5 APN 1 119,551,685 (GRCm39) missense probably benign 0.22
IGL02975:Epb41l5 APN 1 119,506,811 (GRCm39) splice site probably benign
IGL03001:Epb41l5 APN 1 119,545,374 (GRCm39) missense probably damaging 1.00
IGL03331:Epb41l5 APN 1 119,545,149 (GRCm39) missense probably damaging 1.00
R0096:Epb41l5 UTSW 1 119,551,641 (GRCm39) splice site probably benign
R0124:Epb41l5 UTSW 1 119,561,370 (GRCm39) nonsense probably null
R0128:Epb41l5 UTSW 1 119,477,632 (GRCm39) missense possibly damaging 0.81
R0130:Epb41l5 UTSW 1 119,477,632 (GRCm39) missense possibly damaging 0.81
R0241:Epb41l5 UTSW 1 119,495,509 (GRCm39) splice site probably null
R0357:Epb41l5 UTSW 1 119,536,934 (GRCm39) missense probably damaging 1.00
R0624:Epb41l5 UTSW 1 119,551,688 (GRCm39) missense probably damaging 1.00
R0711:Epb41l5 UTSW 1 119,551,641 (GRCm39) splice site probably benign
R0848:Epb41l5 UTSW 1 119,477,684 (GRCm39) missense probably benign 0.01
R1340:Epb41l5 UTSW 1 119,476,861 (GRCm39) makesense probably null
R1401:Epb41l5 UTSW 1 119,506,634 (GRCm39) splice site probably benign
R1416:Epb41l5 UTSW 1 119,477,606 (GRCm39) splice site probably benign
R1452:Epb41l5 UTSW 1 119,476,896 (GRCm39) missense probably damaging 1.00
R1646:Epb41l5 UTSW 1 119,477,752 (GRCm39) splice site probably benign
R1889:Epb41l5 UTSW 1 119,476,902 (GRCm39) missense possibly damaging 0.82
R1895:Epb41l5 UTSW 1 119,476,902 (GRCm39) missense possibly damaging 0.82
R3082:Epb41l5 UTSW 1 119,536,992 (GRCm39) missense probably damaging 1.00
R3742:Epb41l5 UTSW 1 119,532,973 (GRCm39) missense probably benign
R4194:Epb41l5 UTSW 1 119,535,823 (GRCm39) missense probably damaging 1.00
R4787:Epb41l5 UTSW 1 119,523,725 (GRCm39) missense probably benign 0.00
R4983:Epb41l5 UTSW 1 119,482,801 (GRCm39) missense probably benign 0.00
R6825:Epb41l5 UTSW 1 119,547,931 (GRCm39) missense possibly damaging 0.54
R6943:Epb41l5 UTSW 1 119,536,859 (GRCm39) missense probably damaging 1.00
R6944:Epb41l5 UTSW 1 119,536,859 (GRCm39) missense probably damaging 1.00
R7334:Epb41l5 UTSW 1 119,551,679 (GRCm39) missense probably damaging 1.00
R8553:Epb41l5 UTSW 1 119,477,671 (GRCm39) missense possibly damaging 0.88
R8904:Epb41l5 UTSW 1 119,547,936 (GRCm39) missense probably damaging 1.00
R8955:Epb41l5 UTSW 1 119,570,292 (GRCm39) missense probably damaging 1.00
R9147:Epb41l5 UTSW 1 119,570,319 (GRCm39) missense probably damaging 1.00
R9258:Epb41l5 UTSW 1 119,506,701 (GRCm39) missense probably benign
R9351:Epb41l5 UTSW 1 119,477,639 (GRCm39) missense probably benign 0.01
R9366:Epb41l5 UTSW 1 119,548,448 (GRCm39) missense probably damaging 1.00
R9370:Epb41l5 UTSW 1 119,561,312 (GRCm39) missense probably damaging 1.00
R9680:Epb41l5 UTSW 1 119,535,804 (GRCm39) missense probably damaging 1.00
R9779:Epb41l5 UTSW 1 119,545,093 (GRCm39) critical splice donor site probably null
Z1177:Epb41l5 UTSW 1 119,536,941 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07