Incidental Mutation 'R6250:Epb41'
ID 505906
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 044367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6250 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 131650724-131802632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131717184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 323 (F323L)
Ref Sequence ENSEMBL: ENSMUSP00000120236 (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: F323L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: F323L

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: F323L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: F323L

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: F323L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: F323L

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: F171L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: F171L

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: F323L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: F323L

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: F288L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
AA Change: F288L

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: F348L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: F348L

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: F323L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: F323L

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: F165L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: F165L

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: F323L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: F323L

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: F45L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184484
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (60/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T C 2: 150,681,667 (GRCm39) Y241C probably damaging Het
Ak9 T C 10: 41,265,030 (GRCm39) V929A possibly damaging Het
Ap3s1 T C 18: 46,887,514 (GRCm39) F49S probably damaging Het
Atp9b T C 18: 80,799,736 (GRCm39) H801R probably benign Het
B430218F22Rik A G 13: 118,523,944 (GRCm39) probably benign Het
Ccnd3 T A 17: 47,908,487 (GRCm39) L186* probably null Het
Cnbd1 T A 4: 19,098,255 (GRCm39) Q55L probably benign Het
Commd10 A G 18: 47,096,755 (GRCm39) E54G probably damaging Het
Cplx3 A G 9: 57,522,907 (GRCm39) V151A probably benign Het
D6Ertd527e G A 6: 87,088,194 (GRCm39) G119D unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Disp2 A T 2: 118,621,247 (GRCm39) I660F probably damaging Het
Eef1a2 A G 2: 180,792,853 (GRCm39) F211L possibly damaging Het
Eps8l3 A T 3: 107,797,781 (GRCm39) I403F probably benign Het
Ercc5 T A 1: 44,203,209 (GRCm39) V282D probably damaging Het
Faim A T 9: 98,874,176 (GRCm39) M1L probably benign Het
Fbxo24 A G 5: 137,619,543 (GRCm39) F111L probably damaging Het
Fcgbpl1 G A 7: 27,850,139 (GRCm39) G1195D probably damaging Het
Glrx A T 13: 75,988,229 (GRCm39) I48F probably damaging Het
Gucy2g A T 19: 55,205,856 (GRCm39) L668Q probably damaging Het
Hectd4 A G 5: 121,477,561 (GRCm39) D2828G possibly damaging Het
Hivep2 T C 10: 14,007,503 (GRCm39) V1367A probably benign Het
Hrob A G 11: 102,145,888 (GRCm39) T55A probably benign Het
Ipo13 A G 4: 117,769,351 (GRCm39) V147A possibly damaging Het
Jchain T C 5: 88,674,034 (GRCm39) T37A probably benign Het
Kif1b A G 4: 149,298,100 (GRCm39) V1034A probably benign Het
Krt25 T A 11: 99,211,989 (GRCm39) N216I probably damaging Het
Mfsd4b1 T C 10: 39,879,106 (GRCm39) S264G possibly damaging Het
Mxra8 G T 4: 155,925,546 (GRCm39) R82L possibly damaging Het
Nlrp1b A T 11: 71,072,625 (GRCm39) I406N probably benign Het
Or13c7 T C 4: 43,854,363 (GRCm39) L18P possibly damaging Het
Or2y11 A T 11: 49,442,711 (GRCm39) I46F probably damaging Het
Or5h23 G A 16: 58,906,195 (GRCm39) S217F probably damaging Het
Pak5 T C 2: 136,016,189 (GRCm39) probably benign Het
Pcsk4 T C 10: 80,161,426 (GRCm39) R222G probably benign Het
Pik3cb A C 9: 98,976,651 (GRCm39) F149V probably benign Het
Plscr4 G A 9: 92,366,881 (GRCm39) R165Q possibly damaging Het
Ppp2r2a A T 14: 67,276,403 (GRCm39) V34E probably damaging Het
Prpf8 T G 11: 75,384,334 (GRCm39) S659R possibly damaging Het
Ptprd A G 4: 76,047,232 (GRCm39) S342P probably damaging Het
Pum2 T C 12: 8,794,755 (GRCm39) probably null Het
Ranbp3 T G 17: 56,984,208 (GRCm39) probably null Het
Rassf7 A G 7: 140,797,156 (GRCm39) E123G probably damaging Het
Rcor1 G T 12: 111,078,311 (GRCm39) A469S probably benign Het
Rcor3 G T 1: 191,785,196 (GRCm39) P524Q probably damaging Het
Rnf44 A T 13: 54,829,920 (GRCm39) probably null Het
Rtf1 T C 2: 119,505,658 (GRCm39) V37A unknown Het
Sdc4 A T 2: 164,273,138 (GRCm39) D57E probably damaging Het
Setbp1 T C 18: 78,901,217 (GRCm39) T817A probably benign Het
Setd1a A G 7: 127,390,471 (GRCm39) E506G unknown Het
Slc30a8 G A 15: 52,198,545 (GRCm39) R330Q probably benign Het
Snx22 C A 9: 65,976,923 (GRCm39) E14* probably null Het
Spata31d1a A G 13: 59,849,615 (GRCm39) S838P possibly damaging Het
Sprr4 G T 3: 92,407,770 (GRCm39) Q11K unknown Het
Trpm3 A G 19: 22,887,418 (GRCm39) N839S probably benign Het
Vps9d1 T C 8: 123,974,947 (GRCm39) probably null Het
Vwa3b T C 1: 37,090,966 (GRCm39) probably null Het
Ythdf1 T C 2: 180,552,893 (GRCm39) T414A probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- CTGGAGACATGTTCACCTGTATG -3'
(R):5'- AATGGCTAGTCAGTGCTGC -3'

Sequencing Primer
(F):5'- GACATGTTCACCTGTATGATTTATGC -3'
(R):5'- GCTAGTCAGTGCTGCTGTCC -3'
Posted On 2018-02-28