Incidental Mutation 'IGL03011:Epb41'
ID 407783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epb41
Ensembl Gene ENSMUSG00000028906
Gene Name erythrocyte membrane protein band 4.1
Synonyms 4.1R, Epb4.1, Elp1, Elp-1, D4Ertd442e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03011
Quality Score
Status
Chromosome 4
Chromosomal Location 131650724-131802632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 131731105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 1 (P1T)
Ref Sequence ENSEMBL: ENSMUSP00000123623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030739] [ENSMUST00000054917] [ENSMUST00000084253] [ENSMUST00000105970] [ENSMUST00000105972] [ENSMUST00000105974] [ENSMUST00000105975] [ENSMUST00000105981] [ENSMUST00000137846] [ENSMUST00000141291]
AlphaFold P48193
Predicted Effect possibly damaging
Transcript: ENSMUST00000030739
AA Change: P159T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: P159T

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 74 94 N/A INTRINSIC
low complexity region 98 121 N/A INTRINSIC
B41 207 402 1.3e-80 SMART
FERM_C 406 496 1.01e-35 SMART
FA 499 545 8.99e-19 SMART
low complexity region 594 607 N/A INTRINSIC
Pfam:SAB 661 709 1.8e-29 PFAM
Pfam:4_1_CTD 741 855 3.5e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000054917
AA Change: P159T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: P159T

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 74 94 N/A INTRINSIC
low complexity region 98 121 N/A INTRINSIC
B41 207 402 1.3e-80 SMART
FERM_C 406 496 1.01e-35 SMART
FA 499 545 8.99e-19 SMART
Pfam:SAB 607 655 2.3e-28 PFAM
Pfam:4_1_CTD 687 801 3.2e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000084253
AA Change: P159T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: P159T

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 74 94 N/A INTRINSIC
low complexity region 98 121 N/A INTRINSIC
B41 207 402 1.3e-80 SMART
FERM_C 406 496 1.01e-35 SMART
FA 499 545 8.99e-19 SMART
Pfam:SAB 607 655 2.3e-28 PFAM
Pfam:4_1_CTD 687 801 3.2e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105970
AA Change: P7T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: P7T

DomainStartEndE-ValueType
B41 55 250 1.3e-80 SMART
FERM_C 254 344 1.01e-35 SMART
FA 347 393 8.99e-19 SMART
low complexity region 437 459 N/A INTRINSIC
Pfam:SAB 476 524 1.1e-29 PFAM
Pfam:4_1_CTD 578 636 1.4e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105972
AA Change: P159T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: P159T

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 74 94 N/A INTRINSIC
low complexity region 98 121 N/A INTRINSIC
B41 207 402 1.3e-80 SMART
FERM_C 406 496 1.01e-35 SMART
FA 499 545 8.99e-19 SMART
low complexity region 594 607 N/A INTRINSIC
Pfam:SAB 661 709 1.8e-29 PFAM
Pfam:4_1_CTD 741 855 3.5e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105974
AA Change: P159T

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
AA Change: P159T

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 74 94 N/A INTRINSIC
low complexity region 98 121 N/A INTRINSIC
B41 207 367 3.77e-50 SMART
FERM_C 371 461 1.01e-35 SMART
FA 464 510 8.99e-19 SMART
Pfam:SAB 572 620 2e-28 PFAM
Pfam:4_1_CTD 652 766 3e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105975
AA Change: P184T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: P184T

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 74 94 N/A INTRINSIC
low complexity region 98 121 N/A INTRINSIC
B41 232 427 1.3e-80 SMART
FERM_C 431 521 1.01e-35 SMART
FA 524 570 8.99e-19 SMART
low complexity region 619 632 N/A INTRINSIC
Pfam:SAB 672 720 3.9e-25 PFAM
Pfam:4_1_CTD 758 865 2.6e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105981
AA Change: P159T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: P159T

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 74 94 N/A INTRINSIC
low complexity region 98 121 N/A INTRINSIC
B41 207 402 1.3e-80 SMART
FERM_C 406 496 1.01e-35 SMART
FA 499 545 8.99e-19 SMART
low complexity region 594 607 N/A INTRINSIC
Pfam:SAB 661 709 1.8e-29 PFAM
Pfam:4_1_CTD 741 855 3.5e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137846
AA Change: P1T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: P1T

DomainStartEndE-ValueType
B41 49 244 1.3e-80 SMART
FERM_C 248 338 1.01e-35 SMART
FA 341 387 8.99e-19 SMART
low complexity region 431 453 N/A INTRINSIC
Pfam:SAB 470 518 1.2e-29 PFAM
Pfam:4_1_CTD 550 664 2.5e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141291
AA Change: P159T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: P159T

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 74 94 N/A INTRINSIC
low complexity region 98 121 N/A INTRINSIC
B41 207 402 1.3e-80 SMART
FERM_C 406 496 1.01e-35 SMART
FA 499 545 8.99e-19 SMART
low complexity region 594 607 N/A INTRINSIC
Pfam:SAB 647 695 1.3e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136761
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit moderate hemolytic anemia, erythrocytic abnormalities including aberrant morphology, reduced membrane stability, and lowered expression of spectrin and ankyrin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Apob C A 12: 8,047,883 (GRCm39) P941Q probably damaging Het
Armc9 T A 1: 86,127,638 (GRCm39) probably null Het
Arpc5l T C 2: 38,903,730 (GRCm39) probably benign Het
Atg2b C A 12: 105,592,621 (GRCm39) D1745Y probably damaging Het
Atp9a A G 2: 168,494,552 (GRCm39) V651A probably damaging Het
Ccnyl1 T C 1: 64,747,631 (GRCm39) I148T possibly damaging Het
Cfap95 T A 19: 23,630,017 (GRCm39) D25V unknown Het
Chrna6 A T 8: 27,903,682 (GRCm39) W17R possibly damaging Het
Cpne1 G A 2: 155,919,917 (GRCm39) H244Y probably damaging Het
Cpxm2 A G 7: 131,650,807 (GRCm39) Y618H possibly damaging Het
Csf1r T C 18: 61,243,473 (GRCm39) I163T probably benign Het
Ctdsp1 T C 1: 74,434,606 (GRCm39) probably benign Het
Ctsb T A 14: 63,370,806 (GRCm39) I6N probably benign Het
Dcbld1 A G 10: 52,160,244 (GRCm39) N44S probably damaging Het
Dnah11 C T 12: 117,976,112 (GRCm39) C2769Y probably benign Het
Efemp2 C A 19: 5,530,093 (GRCm39) Q187K probably damaging Het
Elavl3 A T 9: 21,947,612 (GRCm39) I109N probably damaging Het
Elovl5 G T 9: 77,890,066 (GRCm39) K292N probably benign Het
Gm44865 G T 7: 108,165,007 (GRCm39) probably benign Het
Gnat2 C A 3: 108,007,368 (GRCm39) T262K probably damaging Het
Katnip T C 7: 125,451,174 (GRCm39) C1102R probably benign Het
Kmt2e A T 5: 23,702,540 (GRCm39) I951F probably damaging Het
Large2 T C 2: 92,197,927 (GRCm39) H258R probably damaging Het
Lnx1 G A 5: 74,846,420 (GRCm39) P10L probably benign Het
Lrp6 G A 6: 134,497,380 (GRCm39) S209L possibly damaging Het
Mc3r A G 2: 172,091,716 (GRCm39) I313V probably benign Het
Med1 T C 11: 98,051,859 (GRCm39) D468G possibly damaging Het
Mlxip T C 5: 123,584,014 (GRCm39) S526P probably benign Het
Myo15a T C 11: 60,400,357 (GRCm39) probably benign Het
Nedd1 T C 10: 92,525,503 (GRCm39) D602G possibly damaging Het
Nol7 C T 13: 43,554,769 (GRCm39) probably benign Het
Or8c10 T C 9: 38,279,364 (GRCm39) I174T possibly damaging Het
Piezo2 T C 18: 63,257,731 (GRCm39) D329G probably benign Het
Pkia G T 3: 7,507,142 (GRCm39) E75* probably null Het
Pramel26 A C 4: 143,538,330 (GRCm39) F214V possibly damaging Het
Ptpn14 A T 1: 189,571,754 (GRCm39) T282S probably damaging Het
Ptprg C T 14: 12,219,029 (GRCm38) P408S probably damaging Het
Rpa2 A G 4: 132,502,358 (GRCm39) I147V probably benign Het
Serpina12 T C 12: 103,997,397 (GRCm39) T375A possibly damaging Het
Serpinb11 T A 1: 107,307,546 (GRCm39) S326T probably damaging Het
Slc18a1 T C 8: 69,491,515 (GRCm39) T500A probably benign Het
Tapt1 A G 5: 44,350,529 (GRCm39) F247L possibly damaging Het
Trav8d-2 A G 14: 53,280,218 (GRCm39) I69M possibly damaging Het
Other mutations in Epb41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Epb41 APN 4 131,702,042 (GRCm39) missense probably benign
IGL00897:Epb41 APN 4 131,727,508 (GRCm39) splice site probably null
IGL00911:Epb41 APN 4 131,717,095 (GRCm39) missense possibly damaging 0.60
IGL01390:Epb41 APN 4 131,731,048 (GRCm39) missense probably benign
IGL01459:Epb41 APN 4 131,691,439 (GRCm39) intron probably benign
IGL01816:Epb41 APN 4 131,731,006 (GRCm39) missense probably benign 0.00
IGL02192:Epb41 APN 4 131,657,028 (GRCm39) missense probably damaging 0.99
IGL02296:Epb41 APN 4 131,731,065 (GRCm39) missense probably benign 0.42
IGL03268:Epb41 APN 4 131,655,806 (GRCm39) missense probably damaging 1.00
IGL03388:Epb41 APN 4 131,702,105 (GRCm39) missense probably damaging 1.00
R0355:Epb41 UTSW 4 131,727,572 (GRCm39) missense probably damaging 0.99
R0532:Epb41 UTSW 4 131,706,106 (GRCm39) splice site probably benign
R0550:Epb41 UTSW 4 131,702,924 (GRCm39) missense probably damaging 1.00
R0571:Epb41 UTSW 4 131,717,215 (GRCm39) missense probably damaging 1.00
R1158:Epb41 UTSW 4 131,727,502 (GRCm39) splice site probably benign
R1444:Epb41 UTSW 4 131,733,382 (GRCm39) missense probably benign
R2106:Epb41 UTSW 4 131,717,152 (GRCm39) missense probably damaging 1.00
R2269:Epb41 UTSW 4 131,691,458 (GRCm39) missense probably benign 0.09
R4014:Epb41 UTSW 4 131,709,756 (GRCm39) splice site probably benign
R4017:Epb41 UTSW 4 131,709,756 (GRCm39) splice site probably benign
R4952:Epb41 UTSW 4 131,727,581 (GRCm39) missense probably damaging 0.99
R4976:Epb41 UTSW 4 131,664,747 (GRCm39) unclassified probably benign
R5058:Epb41 UTSW 4 131,734,746 (GRCm39) utr 5 prime probably benign
R5119:Epb41 UTSW 4 131,664,747 (GRCm39) unclassified probably benign
R5229:Epb41 UTSW 4 131,706,246 (GRCm39) missense probably damaging 1.00
R5571:Epb41 UTSW 4 131,664,717 (GRCm39) unclassified probably benign
R6250:Epb41 UTSW 4 131,717,184 (GRCm39) missense probably damaging 1.00
R6531:Epb41 UTSW 4 131,684,947 (GRCm39) missense probably benign 0.00
R6890:Epb41 UTSW 4 131,663,140 (GRCm39) missense probably damaging 0.98
R7265:Epb41 UTSW 4 131,695,145 (GRCm39) missense unknown
R7289:Epb41 UTSW 4 131,718,520 (GRCm39) critical splice donor site probably null
R7322:Epb41 UTSW 4 131,717,030 (GRCm39) missense probably damaging 0.99
R7823:Epb41 UTSW 4 131,701,993 (GRCm39) critical splice donor site probably null
R8296:Epb41 UTSW 4 131,664,772 (GRCm39) missense
R8317:Epb41 UTSW 4 131,684,961 (GRCm39) missense
R8401:Epb41 UTSW 4 131,702,018 (GRCm39) missense probably damaging 1.00
R8880:Epb41 UTSW 4 131,695,104 (GRCm39) missense
R9065:Epb41 UTSW 4 131,682,888 (GRCm39) missense
R9414:Epb41 UTSW 4 131,702,162 (GRCm39) missense probably damaging 1.00
R9682:Epb41 UTSW 4 131,655,820 (GRCm39) missense
X0066:Epb41 UTSW 4 131,702,051 (GRCm39) missense probably damaging 1.00
Z1177:Epb41 UTSW 4 131,733,394 (GRCm39) missense probably benign
Posted On 2016-08-02