Incidental Mutation 'R4795:Epb41l3'
ID 368992
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 041996-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4795 (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 A at 69555714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080208] [ENSMUST00000112680] [ENSMUST00000225740] [ENSMUST00000225977]
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 probably null
Transcript: ENSMUST00000223703
Predicted Effect probably null
Transcript: ENSMUST00000224523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225604
Predicted Effect probably benign
Transcript: ENSMUST00000225740
Predicted Effect probably null
Transcript: ENSMUST00000225977
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (123/125)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T G 3: 121,969,772 (GRCm39) L2259R probably damaging Het
Acd A G 8: 106,427,647 (GRCm39) S2P possibly damaging Het
Acsf3 A G 8: 123,506,896 (GRCm39) Y63C possibly damaging Het
Adam21 T C 12: 81,607,748 (GRCm39) I5V probably benign Het
Adamts6 C A 13: 104,580,636 (GRCm39) S783* probably null Het
Adamtsl1 T C 4: 86,162,006 (GRCm39) probably null Het
Adck2 T A 6: 39,553,327 (GRCm39) S313T probably benign Het
Adgb A G 10: 10,233,616 (GRCm39) I1285T probably benign Het
Angptl1 T A 1: 156,688,153 (GRCm39) M485K possibly damaging Het
Ank3 G A 10: 69,694,095 (GRCm39) V289I probably benign Het
Atp13a4 A G 16: 29,308,826 (GRCm39) probably null Het
Atp1a1 A G 3: 101,491,091 (GRCm39) L648P probably benign Het
Atp2a3 A G 11: 72,863,855 (GRCm39) I194V probably benign Het
Bglap A C 3: 88,291,712 (GRCm39) I4S unknown Het
Cacna1b T A 2: 24,527,499 (GRCm39) T1621S possibly damaging Het
Ccdc112 T A 18: 46,420,739 (GRCm39) Q337L probably benign Het
Ccdc121rt3 A G 5: 112,503,165 (GRCm39) S180P possibly damaging Het
Cd34 T G 1: 194,633,319 (GRCm39) S194A probably damaging Het
Cdh20 A G 1: 104,868,989 (GRCm39) D160G probably damaging Het
Clock T C 5: 76,413,763 (GRCm39) K44R probably damaging Het
Commd9 A G 2: 101,729,241 (GRCm39) N116D probably benign Het
Dab2 C A 15: 6,459,092 (GRCm39) P335T probably benign Het
Epha2 A G 4: 141,049,727 (GRCm39) probably null Het
Fam78b T C 1: 166,906,216 (GRCm39) V125A probably benign Het
Fars2 A T 13: 36,721,400 (GRCm39) E448V probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glyr1 A C 16: 4,865,622 (GRCm39) V44G probably benign Het
Gm1527 A G 3: 28,974,812 (GRCm39) I542V possibly damaging Het
Gm18856 C A 13: 14,139,793 (GRCm39) probably benign Het
Gm44501 A G 17: 40,889,605 (GRCm39) K40E probably benign Het
Hdhd5 T C 6: 120,500,407 (GRCm39) H97R probably benign Het
Hmcn1 A G 1: 150,629,362 (GRCm39) V965A probably benign Het
Hsf5 A G 11: 87,526,446 (GRCm39) M373V probably benign Het
Igbp1b C T 6: 138,634,803 (GRCm39) E214K probably benign Het
Iigp1 T A 18: 60,522,964 (GRCm39) F27L probably benign Het
Isl1 T C 13: 116,441,966 (GRCm39) N89S probably benign Het
Itga1 C A 13: 115,171,921 (GRCm39) W61C probably damaging Het
Itga5 T C 15: 103,256,187 (GRCm39) R922G probably benign Het
Kbtbd3 G A 9: 4,331,073 (GRCm39) W482* probably null Het
Kcnq1 A G 7: 142,736,494 (GRCm39) T168A probably benign Het
Lrch3 A G 16: 32,826,074 (GRCm39) N631S probably damaging Het
Lrrk1 T A 7: 65,912,413 (GRCm39) I1716F possibly damaging Het
Ly75 T C 2: 60,180,284 (GRCm39) E631G probably benign Het
Map4 T C 9: 109,864,331 (GRCm39) S519P probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mrtfa C T 15: 80,901,234 (GRCm39) S419N probably damaging Het
Muc5b A G 7: 141,403,304 (GRCm39) E755G unknown Het
Ncaph2 T G 15: 89,255,010 (GRCm39) V478G probably damaging Het
Ncbp1 A G 4: 46,152,967 (GRCm39) R247G possibly damaging Het
Necab1 G T 4: 15,111,208 (GRCm39) D73E possibly damaging Het
Nedd9 T C 13: 41,471,376 (GRCm39) K208E probably benign Het
Nfyb A T 10: 82,588,202 (GRCm39) probably benign Het
Nol4 T C 18: 23,054,944 (GRCm39) Q162R probably damaging Het
Nwd2 G A 5: 63,962,776 (GRCm39) D787N probably benign Het
Olfr908 T A 9: 38,427,799 (GRCm39) M157K probably damaging Het
Or10a5 A T 7: 106,636,121 (GRCm39) Y253F probably benign Het
Or11g7 A C 14: 50,690,874 (GRCm39) M122L probably damaging Het
Or13a22 A G 7: 140,072,920 (GRCm39) D123G probably damaging Het
Or5ac23 C T 16: 59,149,213 (GRCm39) V220I probably benign Het
Or6a2 C T 7: 106,600,542 (GRCm39) G175D probably damaging Het
Or6e1 A G 14: 54,520,004 (GRCm39) M116T probably damaging Het
Orai3 T C 7: 127,373,060 (GRCm39) V187A probably benign Het
Parn T C 16: 13,424,066 (GRCm39) T444A probably benign Het
Pcdh11x A C X: 119,309,937 (GRCm39) N460T probably damaging Het
Pcnt C T 10: 76,205,858 (GRCm39) R2516H probably benign Het
Pde4d T A 13: 110,074,705 (GRCm39) probably benign Het
Pdgfra A G 5: 75,349,972 (GRCm39) N952S probably benign Het
Pgm2 A G 5: 64,261,217 (GRCm39) Y237C probably damaging Het
Plcb2 A G 2: 118,541,605 (GRCm39) V975A probably benign Het
Polk T C 13: 96,625,764 (GRCm39) T347A probably benign Het
Ppp6r1 C T 7: 4,644,053 (GRCm39) V430M possibly damaging Het
Ptges2 C A 2: 32,286,334 (GRCm39) C16* probably null Het
Relb A T 7: 19,353,764 (GRCm39) I38N probably damaging Het
Runx1t1 T A 4: 13,837,767 (GRCm39) N51K probably damaging Het
Samsn1 A G 16: 75,680,733 (GRCm39) probably benign Het
Scrn1 A G 6: 54,497,754 (GRCm39) V279A possibly damaging Het
Sec31b A G 19: 44,520,185 (GRCm39) S200P probably benign Het
Selp A G 1: 163,972,475 (GRCm39) T705A probably benign Het
Slc2a1 G A 4: 118,989,642 (GRCm39) R61Q probably damaging Het
Slit3 G A 11: 35,542,647 (GRCm39) probably null Het
Smo T A 6: 29,755,573 (GRCm39) V415E probably damaging Het
Spag8 C A 4: 43,652,035 (GRCm39) V350L possibly damaging Het
Tbck T G 3: 132,413,559 (GRCm39) L132R possibly damaging Het
Thnsl1 T A 2: 21,216,856 (GRCm39) C203* probably null Het
Tm9sf2 T A 14: 122,387,252 (GRCm39) probably null Het
Tmem131 A G 1: 36,880,757 (GRCm39) V171A probably damaging Het
Tmem209 T C 6: 30,501,954 (GRCm39) T83A probably benign Het
Tmem63a T C 1: 180,782,416 (GRCm39) Y138H probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Trpv2 A G 11: 62,472,006 (GRCm39) D66G possibly damaging Het
Trrap T A 5: 144,769,298 (GRCm39) I2620N probably benign Het
Ttyh3 A T 5: 140,620,541 (GRCm39) I232N probably damaging Het
Ube2dnl1 G A X: 113,815,482 (GRCm39) C119Y possibly damaging Het
Unc13c T A 9: 73,839,469 (GRCm39) S461C probably damaging Het
Unc80 T G 1: 66,567,100 (GRCm39) I902S probably damaging Het
Usp42 C A 5: 143,709,692 (GRCm39) G170W probably damaging Het
Vldlr T C 19: 27,216,252 (GRCm39) probably null Het
Ywhab A G 2: 163,857,265 (GRCm39) Y180C probably damaging Het
Zan A T 5: 137,379,112 (GRCm39) C5329* probably null Het
Zbtb40 C T 4: 136,725,953 (GRCm39) M535I probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp318 A G 17: 46,722,988 (GRCm39) T1664A probably benign Het
Zfp7 T A 15: 76,775,546 (GRCm39) C529* probably null Het
Zfp768 T C 7: 126,942,547 (GRCm39) Q527R possibly damaging Het
Zfp975 T A 7: 42,314,570 (GRCm39) probably null 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
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
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'- CAGACAGCAGATAGGCATGC -3'
(R):5'- GTTTCCATGAGGTGTAGCCC -3'

Sequencing Primer
(F):5'- CAGGAGCAGGCCAGTTG -3'
(R):5'- CCCAGCAGTAATGTAGGTCTG -3'
Posted On 2016-02-04