Incidental Mutation 'R8401:Epb41'
ID 652184
Institutional Source Beutler Lab
Gene Symbol Epb41
Ensembl Gene ENSMUSG00000028906
Gene Name erythrocyte membrane protein band 4.1
Synonyms 4.1R, Epb4.1, Elp1, Elp-1, D4Ertd442e
MMRRC Submission 067877-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8401 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 131650724-131802632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 131702018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 539 (R539Q)
Ref Sequence ENSEMBL: ENSMUSP00000081274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030739] [ENSMUST00000054917] [ENSMUST00000084253] [ENSMUST00000105970] [ENSMUST00000105972] [ENSMUST00000105974] [ENSMUST00000105975] [ENSMUST00000105981] [ENSMUST00000137846] [ENSMUST00000141291]
AlphaFold P48193
Predicted Effect probably damaging
Transcript: ENSMUST00000030739
AA Change: R539Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: R539Q

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: R539Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: R539Q

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: R539Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: R539Q

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: R387Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: R387Q

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: R539Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: R539Q

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: R504Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
AA Change: R504Q

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: R564Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: R564Q

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: ENSMUST00000105981
AA Change: R539Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: R539Q

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: R381Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: R381Q

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: R539Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: R539Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 T C 14: 31,467,251 (GRCm39) Y207C probably damaging Het
Ano8 T C 8: 71,936,011 (GRCm39) D235G probably damaging Het
Atp2b4 T A 1: 133,659,574 (GRCm39) I463F probably damaging Het
Brca2 T A 5: 150,475,817 (GRCm39) I2509N probably damaging Het
Brinp3 T C 1: 146,777,184 (GRCm39) S544P probably benign Het
Chd1 A G 17: 15,963,473 (GRCm39) Y824C probably damaging Het
Dapk1 T C 13: 60,870,904 (GRCm39) V330A probably benign Het
Dct T C 14: 118,280,615 (GRCm39) T134A possibly damaging Het
Ddx56 T C 11: 6,214,199 (GRCm39) D350G probably damaging Het
Ddx60 C T 8: 62,409,277 (GRCm39) L438F possibly damaging Het
Dnah17 T A 11: 117,915,485 (GRCm39) K4378M probably damaging Het
Drc7 C T 8: 95,800,763 (GRCm39) S595F probably benign Het
Foxred2 T C 15: 77,836,191 (GRCm39) I389V probably damaging Het
Gan C A 8: 117,910,242 (GRCm39) T57K possibly damaging Het
Glra3 T C 8: 56,542,124 (GRCm39) V289A probably damaging Het
Grk1 T C 8: 13,457,846 (GRCm39) F249L probably damaging Het
Grk6 G A 13: 55,599,981 (GRCm39) A258T possibly damaging Het
Hars1 T C 18: 36,904,243 (GRCm39) N212S possibly damaging Het
Ikzf2 C A 1: 69,578,254 (GRCm39) Q418H probably damaging Het
Ikzf2 T G 1: 69,578,255 (GRCm39) Q418P probably damaging Het
Klre1 T A 6: 129,556,989 (GRCm39) N30K probably benign Het
Lama5 G T 2: 179,840,580 (GRCm39) D606E probably damaging Het
Lca5l T C 16: 95,963,760 (GRCm39) K393R probably damaging Het
Lmbrd2 A T 15: 9,156,294 (GRCm39) I124F possibly damaging Het
Loxhd1 C A 18: 77,468,156 (GRCm39) P935T probably damaging Het
Nes T C 3: 87,885,388 (GRCm39) S1216P possibly damaging Het
Nim1k A G 13: 120,174,213 (GRCm39) L227P probably damaging Het
Nkx2-1 C A 12: 56,579,841 (GRCm39) L366F probably damaging Het
Nol6 C A 4: 41,119,548 (GRCm39) R586L possibly damaging Het
Ogdh T A 11: 6,247,174 (GRCm39) L66* probably null Het
Or2b28 A T 13: 21,531,997 (GRCm39) I300L probably benign Het
Orm3 A G 4: 63,274,467 (GRCm39) S11G possibly damaging Het
Pkn3 C A 2: 29,970,071 (GRCm39) S126R probably benign Het
Pnpla8 T A 12: 44,335,091 (GRCm39) D442E probably damaging Het
Pop1 A T 15: 34,508,755 (GRCm39) T277S probably damaging Het
Prkag2 T C 5: 25,068,868 (GRCm39) T563A probably benign Het
Prkdc T A 16: 15,591,477 (GRCm39) F2652I possibly damaging Het
Prok1 A G 3: 107,144,513 (GRCm39) I30T probably benign Het
Prr9 T G 3: 92,030,356 (GRCm39) T95P possibly damaging Het
Ptgds A G 2: 25,359,669 (GRCm39) M6T unknown Het
Rnaseh2b T A 14: 62,607,938 (GRCm39) D250E probably benign Het
Rundc1 C T 11: 101,324,383 (GRCm39) T363M probably damaging Het
Ryr2 T A 13: 11,683,821 (GRCm39) H3081L possibly damaging Het
Setmar T C 6: 108,053,124 (GRCm39) I206T probably benign Het
Skic8 A T 9: 54,635,539 (GRCm39) S21T probably benign Het
Slitrk6 A G 14: 110,989,453 (GRCm39) S85P possibly damaging Het
Spi1 A G 2: 90,943,650 (GRCm39) N65D probably benign Het
Stx1b A T 7: 127,406,945 (GRCm39) probably benign Het
Trav5-4 G A 14: 53,941,750 (GRCm39) S41N probably benign Het
Tspan14 T C 14: 40,630,049 (GRCm39) D260G probably benign Het
Ube4a T C 9: 44,852,527 (GRCm39) D645G possibly damaging Het
Ush2a C T 1: 188,275,062 (GRCm39) T1845I probably benign Het
Vps18 T C 2: 119,127,973 (GRCm39) L932P probably damaging Het
Zfp62 T A 11: 49,108,218 (GRCm39) C770S probably damaging Het
Zfp672 T C 11: 58,207,628 (GRCm39) K231R 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
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
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
Predicted Primers PCR Primer
(F):5'- TGAGGTTCTCCGTAAACTGGAG -3'
(R):5'- GCTTGACTAGAAATTGCCACAAG -3'

Sequencing Primer
(F):5'- ATAGTCATACTGCCAAGTTGGG -3'
(R):5'- GACTAGAAATTGCCACAAGAGTTC -3'
Posted On 2020-10-20