Incidental Mutation 'R1164:Epb41l3'
ID100879
Institutional Source Beutler Lab
Gene Symbol Epb41l3
Ensembl Gene ENSMUSG00000024044
Gene Nameerythrocyte membrane protein band 4.1 like 3
SynonymsDAL1P, NBL3, Epb4.1l3, 4.1B
MMRRC Submission 039237-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1164 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location69075683-69289989 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69274767 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 568 (T568A)
Ref Sequence ENSEMBL: ENSMUSP00000153228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080208] [ENSMUST00000112680] [ENSMUST00000225695] [ENSMUST00000225740] [ENSMUST00000225977]
Predicted Effect probably benign
Transcript: ENSMUST00000080208
AA Change: T580A

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
AA Change: T580A

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
AA Change: T590A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
AA Change: T590A

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 unknown
Transcript: ENSMUST00000223703
AA Change: T537A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223816
Predicted Effect unknown
Transcript: ENSMUST00000224523
AA Change: T271A
Predicted Effect unknown
Transcript: ENSMUST00000224951
AA Change: T74A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225316
Predicted Effect probably benign
Transcript: ENSMUST00000225695
Predicted Effect probably benign
Transcript: ENSMUST00000225740
Predicted Effect possibly damaging
Transcript: ENSMUST00000225977
AA Change: T568A

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,402,331 M1055K probably damaging Het
Adprh A T 16: 38,450,340 D34E probably benign Het
Aldh1a1 A T 19: 20,617,946 M80L probably benign Het
Arap2 T A 5: 62,683,477 D682V probably damaging Het
Atp4a T A 7: 30,717,692 L500Q probably benign Het
Atp6v1c2 T C 12: 17,308,316 E10G probably damaging Het
B4galt2 G A 4: 117,876,944 R299W possibly damaging Het
Brinp1 A C 4: 68,798,691 S307A probably benign Het
Cacna2d1 G A 5: 16,361,876 probably null Het
Ccdc3 T C 2: 5,141,266 V137A possibly damaging Het
Ccnb1ip1 T C 14: 50,792,137 K156R possibly damaging Het
Cfap77 A T 2: 28,962,688 W191R probably damaging Het
Chga A G 12: 102,563,045 E427G probably damaging Het
Chrnd A T 1: 87,192,545 Y32F probably benign Het
Cks1b C A 3: 89,415,942 probably benign Het
Creld2 G A 15: 88,820,631 W103* probably null Het
Dip2a C A 10: 76,276,397 R1098L possibly damaging Het
Dmbx1 T A 4: 115,918,258 H275L probably damaging Het
Dmrt2 A G 19: 25,677,993 M319V possibly damaging Het
Dock8 A G 19: 25,090,027 Y345C probably benign Het
Dpp6 A G 5: 27,721,105 T668A probably benign Het
Eef1d A G 15: 75,902,677 probably null Het
Erc2 A G 14: 28,302,972 R603G probably damaging Het
Fam83d T C 2: 158,783,250 S254P probably damaging Het
Fcgr4 A T 1: 171,029,170 H202L possibly damaging Het
Gm38394 G A 1: 133,659,203 T132I probably damaging Het
Gm4922 C T 10: 18,783,721 A418T possibly damaging Het
Kmo A G 1: 175,658,559 H416R probably benign Het
Lao1 A G 4: 118,965,405 N174S probably benign Het
Lrwd1 A T 5: 136,130,990 H406Q probably benign Het
Magoh A G 4: 107,887,262 I143V probably benign Het
Mpz A G 1: 171,158,439 H49R possibly damaging Het
Nav1 T C 1: 135,472,410 N474S probably benign Het
Ndufb10 T G 17: 24,722,783 E68D probably benign Het
Obscn T C 11: 59,036,087 D5534G possibly damaging Het
Olfr1076 C A 2: 86,508,684 T75K probably damaging Het
Olfr126 T A 17: 37,850,684 F31I probably damaging Het
Olfr1425 A T 19: 12,074,241 Y130* probably null Het
Olfr159 T C 4: 43,770,991 T7A probably benign Het
Olfr345 A T 2: 36,640,120 Y27F probably benign Het
Olfr685 A T 7: 105,180,833 F160Y probably benign Het
Padi1 A T 4: 140,832,329 V79E possibly damaging Het
Pdha2 A G 3: 141,211,499 Y83H probably damaging Het
Phpt1 A G 2: 25,574,715 I42T probably damaging Het
Pot1b A C 17: 55,674,085 S310A probably benign Het
Ptpn13 G A 5: 103,489,773 V176I probably damaging Het
Ptprf A G 4: 118,257,492 S189P probably damaging Het
Rere A T 4: 150,534,884 Q381L unknown Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Scn8a G A 15: 101,040,162 C1804Y probably benign Het
Sema3c G A 5: 17,678,314 D307N probably benign Het
Siah2 T C 3: 58,676,316 E183G probably benign Het
Smarca5 G A 8: 80,710,631 L699F probably damaging Het
Smo T A 6: 29,754,719 S263T probably benign Het
Sox2 A G 3: 34,650,699 E95G probably damaging Het
T T C 17: 8,439,939 S171P probably benign Het
Tmc7 G T 7: 118,542,024 A628D probably benign Het
Tmem45a2 A G 16: 57,049,426 S52P probably damaging Het
Tubb3 C T 8: 123,421,447 A373V probably damaging Het
Uhrf1bp1 T C 17: 27,895,380 probably null Het
Upp2 A G 2: 58,763,704 Y69C probably damaging Het
Utp4 A G 8: 106,900,844 probably null Het
Vmn1r59 T A 7: 5,454,411 M117L probably benign Het
Xkr8 T C 4: 132,732,411 S19G probably benign Het
Zbtb24 T C 10: 41,464,527 Y518H probably damaging Het
Zfp324 T C 7: 12,971,624 I580T probably benign Het
Zfp995 G A 17: 21,879,979 H425Y probably damaging Het
Other mutations in Epb41l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Epb41l3 APN 17 69207861 splice site probably benign
IGL01099:Epb41l3 APN 17 69210193 missense possibly damaging 0.80
IGL01578:Epb41l3 APN 17 69248709 missense probably damaging 1.00
IGL02269:Epb41l3 APN 17 69247573 missense probably damaging 1.00
IGL02926:Epb41l3 APN 17 69247746 missense probably damaging 1.00
IGL03397:Epb41l3 APN 17 69248692 missense probably damaging 1.00
E0370:Epb41l3 UTSW 17 69274804 missense possibly damaging 0.73
P0031:Epb41l3 UTSW 17 69259054 nonsense probably null
R0032:Epb41l3 UTSW 17 69210384 critical splice donor site probably null
R0056:Epb41l3 UTSW 17 69253397 missense probably damaging 1.00
R0092:Epb41l3 UTSW 17 69286750 missense probably damaging 1.00
R0499:Epb41l3 UTSW 17 69247659 missense probably benign 0.00
R0560:Epb41l3 UTSW 17 69274897 critical splice donor site probably null
R1170:Epb41l3 UTSW 17 69259180 nonsense probably null
R1397:Epb41l3 UTSW 17 69262348 critical splice donor site probably null
R2080:Epb41l3 UTSW 17 69253468 missense possibly damaging 0.54
R2138:Epb41l3 UTSW 17 69207880 missense probably damaging 1.00
R2279:Epb41l3 UTSW 17 69270650 missense possibly damaging 0.56
R2863:Epb41l3 UTSW 17 69210321 missense probably benign 0.22
R3883:Epb41l3 UTSW 17 69274116 nonsense probably null
R3884:Epb41l3 UTSW 17 69274116 nonsense probably null
R4165:Epb41l3 UTSW 17 69207888 missense probably damaging 1.00
R4795:Epb41l3 UTSW 17 69248719 critical splice donor site probably null
R5286:Epb41l3 UTSW 17 69262273 missense probably benign 0.00
R5303:Epb41l3 UTSW 17 69257449 missense probably damaging 1.00
R5373:Epb41l3 UTSW 17 69286800 missense probably damaging 1.00
R5374:Epb41l3 UTSW 17 69286800 missense probably damaging 1.00
R5938:Epb41l3 UTSW 17 69259071 missense probably damaging 1.00
R6014:Epb41l3 UTSW 17 69283960 missense probably damaging 0.98
R6059:Epb41l3 UTSW 17 69284642 missense probably damaging 1.00
R6059:Epb41l3 UTSW 17 69286798 missense probably damaging 1.00
X0066:Epb41l3 UTSW 17 69259158 nonsense probably null
Z1088:Epb41l3 UTSW 17 69253522 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15