Incidental Mutation 'IGL00975:Epb41l3'
ID 29349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epb41l3
Ensembl Gene ENSMUSG00000024044
Gene Name erythrocyte membrane protein band 4.1 like 3
Synonyms 4.1B, NBL3, Epb4.1l3, DAL1P
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00975
Quality Score
Status
Chromosome 17
Chromosomal Location 69382678-69596984 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 69514856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080208] [ENSMUST00000112680] [ENSMUST00000223610] [ENSMUST00000225062] [ENSMUST00000225740] [ENSMUST00000225977]
AlphaFold Q9WV92
Predicted Effect probably benign
Transcript: ENSMUST00000080208
SMART Domains Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044

DomainStartEndE-ValueType
low complexity region 15 40 N/A INTRINSIC
low complexity region 94 107 N/A INTRINSIC
B41 114 309 1.13e-80 SMART
FERM_C 313 403 3.96e-38 SMART
FA 405 451 2.34e-17 SMART
low complexity region 497 517 N/A INTRINSIC
Pfam:SAB 556 604 2.1e-29 PFAM
low complexity region 789 802 N/A INTRINSIC
Pfam:4_1_CTD 809 922 1.9e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112680
SMART Domains Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044

DomainStartEndE-ValueType
low complexity region 15 40 N/A INTRINSIC
low complexity region 94 107 N/A INTRINSIC
B41 114 309 1.13e-80 SMART
FERM_C 313 403 3.96e-38 SMART
FA 405 451 2.34e-17 SMART
low complexity region 497 517 N/A INTRINSIC
Pfam:SAB 566 614 3.2e-28 PFAM
low complexity region 799 812 N/A INTRINSIC
Pfam:4_1_CTD 825 931 2.9e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223610
Predicted Effect probably benign
Transcript: ENSMUST00000225062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225316
Predicted Effect probably benign
Transcript: ENSMUST00000225740
Predicted Effect probably benign
Transcript: ENSMUST00000225977
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for one knock-out allele display a normal phenotype. Mice homozygous for a different knock-out allele exhibit ataxia, gait abnormalities, clasping, hypermyelination, abnormal axon morphology, and decreased internode length. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn10 A T 15: 85,220,666 (GRCm39) M1L probably benign Het
Atxn7l3 A G 11: 102,185,807 (GRCm39) S3P probably benign Het
Cep112 A G 11: 108,325,012 (GRCm39) D70G probably damaging Het
Col20a1 G A 2: 180,634,271 (GRCm39) A79T probably damaging Het
Cycs T A 6: 50,542,347 (GRCm39) D63V probably benign Het
Dis3 A G 14: 99,316,670 (GRCm39) V855A probably damaging Het
Dnah6 T A 6: 73,150,373 (GRCm39) I797F possibly damaging Het
Dpagt1 T C 9: 44,243,949 (GRCm39) probably null Het
Dst T C 1: 34,227,393 (GRCm39) I1840T possibly damaging Het
Fam20c C T 5: 138,794,912 (GRCm39) H514Y probably benign Het
Fgd6 A T 10: 93,969,938 (GRCm39) M1196L probably damaging Het
Fmo3 T C 1: 162,791,599 (GRCm39) D226G probably benign Het
Fsd1l T C 4: 53,682,187 (GRCm39) L263P probably damaging Het
Gaa C A 11: 119,165,509 (GRCm39) T333K possibly damaging Het
Gm10530 T C 1: 159,512,444 (GRCm39) probably benign Het
Gm5458 A G 14: 19,649,735 (GRCm39) L163P Het
Inpp5j T C 11: 3,452,176 (GRCm39) N358S probably damaging Het
Ms4a8a A G 19: 11,048,151 (GRCm39) L193P probably damaging Het
Neb T C 2: 52,102,740 (GRCm39) K4511R probably benign Het
Odad1 A T 7: 45,592,080 (GRCm39) K320I probably damaging Het
Or5an10 A G 19: 12,276,149 (GRCm39) S116P probably damaging Het
Pcca A G 14: 123,114,312 (GRCm39) D82G probably damaging Het
Pou2f3 T C 9: 43,048,679 (GRCm39) T266A probably benign Het
Ppp1r26 T A 2: 28,343,730 (GRCm39) L1120Q probably damaging Het
Pudp T G 18: 50,701,349 (GRCm39) K128T probably damaging Het
Rcn1 T C 2: 105,225,174 (GRCm39) T94A possibly damaging Het
Six5 T C 7: 18,831,603 (GRCm39) L698P probably damaging Het
Slc13a4 T A 6: 35,251,910 (GRCm39) M461L probably benign Het
Slc30a9 T C 5: 67,507,169 (GRCm39) V487A probably damaging Het
Tbx21 T C 11: 96,990,908 (GRCm39) I257V possibly damaging Het
Tg A G 15: 66,553,731 (GRCm39) D382G probably benign Het
Trim34b C A 7: 103,978,859 (GRCm39) C35* probably null Het
Usp47 A G 7: 111,692,577 (GRCm39) D1013G probably damaging Het
Other mutations in Epb41l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Epb41l3 APN 17 69,517,188 (GRCm39) missense possibly damaging 0.80
IGL01578:Epb41l3 APN 17 69,555,704 (GRCm39) missense probably damaging 1.00
IGL02269:Epb41l3 APN 17 69,554,568 (GRCm39) missense probably damaging 1.00
IGL02926:Epb41l3 APN 17 69,554,741 (GRCm39) missense probably damaging 1.00
IGL03397:Epb41l3 APN 17 69,555,687 (GRCm39) missense probably damaging 1.00
E0370:Epb41l3 UTSW 17 69,581,799 (GRCm39) missense possibly damaging 0.73
P0031:Epb41l3 UTSW 17 69,566,049 (GRCm39) nonsense probably null
R0032:Epb41l3 UTSW 17 69,517,379 (GRCm39) critical splice donor site probably null
R0056:Epb41l3 UTSW 17 69,560,392 (GRCm39) missense probably damaging 1.00
R0092:Epb41l3 UTSW 17 69,593,745 (GRCm39) missense probably damaging 1.00
R0499:Epb41l3 UTSW 17 69,554,654 (GRCm39) missense probably benign 0.00
R0560:Epb41l3 UTSW 17 69,581,892 (GRCm39) critical splice donor site probably null
R1164:Epb41l3 UTSW 17 69,581,762 (GRCm39) missense possibly damaging 0.93
R1170:Epb41l3 UTSW 17 69,566,175 (GRCm39) nonsense probably null
R1397:Epb41l3 UTSW 17 69,569,343 (GRCm39) critical splice donor site probably null
R2080:Epb41l3 UTSW 17 69,560,463 (GRCm39) missense possibly damaging 0.54
R2138:Epb41l3 UTSW 17 69,514,875 (GRCm39) missense probably damaging 1.00
R2279:Epb41l3 UTSW 17 69,577,645 (GRCm39) missense possibly damaging 0.56
R2863:Epb41l3 UTSW 17 69,517,316 (GRCm39) missense probably benign 0.22
R3883:Epb41l3 UTSW 17 69,581,111 (GRCm39) nonsense probably null
R3884:Epb41l3 UTSW 17 69,581,111 (GRCm39) nonsense probably null
R4165:Epb41l3 UTSW 17 69,514,883 (GRCm39) missense probably damaging 1.00
R4795:Epb41l3 UTSW 17 69,555,714 (GRCm39) critical splice donor site probably null
R5286:Epb41l3 UTSW 17 69,569,268 (GRCm39) missense probably benign 0.00
R5303:Epb41l3 UTSW 17 69,564,444 (GRCm39) missense probably damaging 1.00
R5373:Epb41l3 UTSW 17 69,593,795 (GRCm39) missense probably damaging 1.00
R5374:Epb41l3 UTSW 17 69,593,795 (GRCm39) missense probably damaging 1.00
R5938:Epb41l3 UTSW 17 69,566,066 (GRCm39) missense probably damaging 1.00
R6014:Epb41l3 UTSW 17 69,590,955 (GRCm39) missense probably damaging 0.98
R6059:Epb41l3 UTSW 17 69,593,793 (GRCm39) missense probably damaging 1.00
R6059:Epb41l3 UTSW 17 69,591,637 (GRCm39) missense probably damaging 1.00
R7318:Epb41l3 UTSW 17 69,573,135 (GRCm39) missense
R7480:Epb41l3 UTSW 17 69,568,867 (GRCm39) splice site probably null
R7548:Epb41l3 UTSW 17 69,517,271 (GRCm39) missense probably damaging 1.00
R7719:Epb41l3 UTSW 17 69,560,409 (GRCm39) missense possibly damaging 0.81
R7769:Epb41l3 UTSW 17 69,545,421 (GRCm39) missense probably damaging 0.98
R7903:Epb41l3 UTSW 17 69,581,332 (GRCm39) splice site probably null
R8099:Epb41l3 UTSW 17 69,554,683 (GRCm39) missense possibly damaging 0.79
R8175:Epb41l3 UTSW 17 69,517,361 (GRCm39) missense probably damaging 1.00
R8225:Epb41l3 UTSW 17 69,581,796 (GRCm39) missense possibly damaging 0.52
R8364:Epb41l3 UTSW 17 69,573,429 (GRCm39) critical splice donor site probably null
R8540:Epb41l3 UTSW 17 69,593,757 (GRCm39) missense probably damaging 1.00
R8859:Epb41l3 UTSW 17 69,591,575 (GRCm39) missense probably benign 0.28
R8984:Epb41l3 UTSW 17 69,554,641 (GRCm39) missense probably damaging 1.00
R9048:Epb41l3 UTSW 17 69,517,218 (GRCm39) missense probably benign 0.06
X0066:Epb41l3 UTSW 17 69,566,153 (GRCm39) nonsense probably null
Z1088:Epb41l3 UTSW 17 69,560,517 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17