Incidental Mutation 'IGL03388:Epb41'
ID 420953
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 # IGL03388
Quality Score
Status
Chromosome 4
Chromosomal Location 131650724-131802632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131702105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 510 (Y510C)
Ref Sequence ENSEMBL: ENSMUSP00000120236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030739] [ENSMUST00000054917] [ENSMUST00000084253] [ENSMUST00000105970] [ENSMUST00000105972] [ENSMUST00000105974] [ENSMUST00000105975] [ENSMUST00000137846] [ENSMUST00000105981] [ENSMUST00000141291]
AlphaFold P48193
Predicted Effect probably damaging
Transcript: ENSMUST00000030739
AA Change: Y510C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: Y510C

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: ENSMUST00000054917
AA Change: Y510C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: Y510C

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: ENSMUST00000084253
AA Change: Y510C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: Y510C

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: Y358C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: Y358C

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 probably damaging
Transcript: ENSMUST00000105972
AA Change: Y510C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: Y510C

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: ENSMUST00000105974
AA Change: Y475C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
AA Change: Y475C

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 probably damaging
Transcript: ENSMUST00000105975
AA Change: Y535C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: Y535C

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 probably damaging
Transcript: ENSMUST00000137846
AA Change: Y352C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: Y352C

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: ENSMUST00000105981
AA Change: Y510C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: Y510C

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: ENSMUST00000141291
AA Change: Y510C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: Y510C

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 unknown
Transcript: ENSMUST00000212761
AA Change: Y232C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144754
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,693,596 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,801 (GRCm39) K340R possibly damaging Het
Ccr3 A G 9: 123,828,658 (GRCm39) probably benign Het
Cdan1 A G 2: 120,560,992 (GRCm39) probably benign Het
Clasp1 T A 1: 118,433,233 (GRCm39) D237E possibly damaging Het
Ddx18 T C 1: 121,493,652 (GRCm39) K111E possibly damaging Het
Defa21 T C 8: 21,515,764 (GRCm39) L54P probably damaging Het
Dennd3 T C 15: 73,416,208 (GRCm39) V486A probably damaging Het
Dnah9 T A 11: 65,838,368 (GRCm39) D3143V probably damaging Het
Dnm1l A G 16: 16,131,916 (GRCm39) probably benign Het
Fat4 T C 3: 39,011,376 (GRCm39) Y2159H probably damaging Het
Fmo1 A G 1: 162,663,716 (GRCm39) V271A probably benign Het
Gm12185 A G 11: 48,799,113 (GRCm39) V460A probably benign Het
Hspa8 T C 9: 40,716,224 (GRCm39) probably benign Het
Hspb7 A G 4: 141,151,356 (GRCm39) E166G probably damaging Het
Il31ra C A 13: 112,682,746 (GRCm39) S120I probably damaging Het
Kdm5b A G 1: 134,555,060 (GRCm39) T1323A probably benign Het
Lgals9 T A 11: 78,854,247 (GRCm39) I346F probably damaging Het
Lgi2 T C 5: 52,695,819 (GRCm39) D372G probably damaging Het
Magi3 A C 3: 103,923,157 (GRCm39) S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 (GRCm38) F203S probably benign Het
Nup210l G A 3: 90,077,351 (GRCm39) V896I probably damaging Het
Nxf7 T C X: 134,485,489 (GRCm39) K440E probably damaging Het
Or6c206 A T 10: 129,097,312 (GRCm39) I161F probably benign Het
Or9i1b T A 19: 13,896,984 (GRCm39) V200D probably damaging Het
Pcdhb6 T C 18: 37,469,190 (GRCm39) S20P probably damaging Het
Per2 G T 1: 91,372,511 (GRCm39) probably benign Het
Pi15 G A 1: 17,673,001 (GRCm39) A67T probably benign Het
Pnp2 A T 14: 51,200,995 (GRCm39) N160I probably damaging Het
Ppp1r12c A G 7: 4,485,069 (GRCm39) probably benign Het
Rabgap1l A T 1: 160,561,093 (GRCm39) probably null Het
Rnf115 G A 3: 96,695,984 (GRCm39) V257M probably damaging Het
Rtkn T A 6: 83,127,071 (GRCm39) V346D probably benign Het
Rubcn A T 16: 32,661,938 (GRCm39) N427K probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sel1l2 A C 2: 140,105,284 (GRCm39) probably benign Het
Septin4 T A 11: 87,459,042 (GRCm39) L472* probably null Het
Slc5a5 A G 8: 71,342,972 (GRCm39) V196A probably benign Het
Sox13 A T 1: 133,316,686 (GRCm39) L207H probably damaging Het
Tmtc2 A G 10: 105,157,344 (GRCm39) probably benign Het
Trip12 T C 1: 84,720,907 (GRCm39) K1409R probably damaging Het
Ttn C T 2: 76,797,481 (GRCm39) A528T probably benign Het
Ubr4 T C 4: 139,142,343 (GRCm39) I1310T probably damaging Het
Ypel5 T C 17: 73,153,400 (GRCm39) F35L probably damaging Het
Zfp13 G T 17: 23,795,888 (GRCm39) R228S probably benign 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
IGL03011:Epb41 APN 4 131,731,105 (GRCm39) missense probably damaging 1.00
IGL03268:Epb41 APN 4 131,655,806 (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