Incidental Mutation 'R0560:Epb41l3'
ID 45846
Institutional Source Beutler Lab
Gene Symbol Epb41l3
Ensembl Gene ENSMUSG00000024044
Gene Name erythrocyte membrane protein band 4.1 like 3
Synonyms 4.1B, NBL3, Epb4.1l3, DAL1P
MMRRC Submission 038752-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0560 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 69382678-69596984 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 69581892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080208] [ENSMUST00000112680] [ENSMUST00000225977] [ENSMUST00000225740] [ENSMUST00000225695]
AlphaFold Q9WV92
Predicted Effect probably null
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 null
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 noncoding transcript
Transcript: ENSMUST00000187090
Predicted Effect probably null
Transcript: ENSMUST00000223703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223816
Predicted Effect probably null
Transcript: ENSMUST00000224523
Predicted Effect probably null
Transcript: ENSMUST00000224951
Predicted Effect probably null
Transcript: ENSMUST00000225977
Predicted Effect probably benign
Transcript: ENSMUST00000225740
Predicted Effect probably null
Transcript: ENSMUST00000225695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225316
Meta Mutation Damage Score 0.9493 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (26/26)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob T C 12: 8,055,101 (GRCm39) Y1334H probably damaging Het
Arsb A G 13: 93,926,706 (GRCm39) T159A possibly damaging Het
Asb18 A C 1: 89,942,250 (GRCm39) V17G probably damaging Het
Bicd1 A G 6: 149,413,460 (GRCm39) K284E probably benign Het
Bspry A G 4: 62,404,686 (GRCm39) R161G probably damaging Het
Ccdc138 A G 10: 58,411,539 (GRCm39) T636A probably damaging Het
Cubn A T 2: 13,433,491 (GRCm39) W1140R probably damaging Het
Cyp2t4 A G 7: 26,857,936 (GRCm39) T479A probably damaging Het
Dele1 T A 18: 38,387,551 (GRCm39) L230Q probably damaging Het
Dtx3l A G 16: 35,753,305 (GRCm39) S434P probably damaging Het
Duox2 A G 2: 122,122,035 (GRCm39) V611A probably benign Het
Fam161b C T 12: 84,404,492 (GRCm39) D63N probably damaging Het
Gm5422 G A 10: 31,125,240 (GRCm39) noncoding transcript Het
Gpr158 A T 2: 21,830,085 (GRCm39) D710V probably damaging Het
Krtcap2 T C 3: 89,156,449 (GRCm39) probably null Het
Mtrf1 T A 14: 79,644,290 (GRCm39) D199E probably damaging Het
Myorg G A 4: 41,498,167 (GRCm39) R488W probably damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Ncf2 T A 1: 152,697,273 (GRCm39) Y47N probably damaging Het
Ovgp1 T C 3: 105,893,726 (GRCm39) probably benign Het
Siglec1 G T 2: 130,912,266 (GRCm39) T1692N probably benign Het
Slc10a2 T C 8: 5,139,092 (GRCm39) N284S probably benign Het
Slfn3 T C 11: 83,103,978 (GRCm39) F283S probably damaging Het
Trank1 T C 9: 111,220,154 (GRCm39) F2297S possibly damaging Het
Vmn2r69 A G 7: 85,058,922 (GRCm39) probably null Het
Vps13d T C 4: 144,780,760 (GRCm39) E3957G probably damaging Het
Other mutations in Epb41l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Epb41l3 APN 17 69,514,856 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGTGGAAGACTGACTGCTGGACTC -3'
(R):5'- AGGTAAGAACCCAGCCATGTGCTC -3'

Sequencing Primer
(F):5'- TGGACTCTGTCTTACTCTGAATATAG -3'
(R):5'- GCCTGTCATTAGCCCAATTAGAG -3'
Posted On 2013-06-11