Incidental Mutation 'IGL00577:Epb41'
ID 10483
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 # IGL00577
Quality Score
Status
Chromosome 4
Chromosomal Location 131650724-131802632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131702042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 531 (H531L)
Ref Sequence ENSEMBL: ENSMUSP00000120236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030739] [ENSMUST00000054917] [ENSMUST00000084253] [ENSMUST00000105970] [ENSMUST00000105972] [ENSMUST00000105974] [ENSMUST00000105975] [ENSMUST00000105981] [ENSMUST00000141291] [ENSMUST00000137846]
AlphaFold P48193
Predicted Effect probably benign
Transcript: ENSMUST00000030739
AA Change: H531L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: H531L

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 benign
Transcript: ENSMUST00000054917
AA Change: H531L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: H531L

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 benign
Transcript: ENSMUST00000084253
AA Change: H531L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: H531L

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 benign
Transcript: ENSMUST00000105970
AA Change: H379L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: H379L

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 benign
Transcript: ENSMUST00000105972
AA Change: H531L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: H531L

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 benign
Transcript: ENSMUST00000105974
AA Change: H496L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
AA Change: H496L

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 benign
Transcript: ENSMUST00000105975
AA Change: H556L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: H556L

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 benign
Transcript: ENSMUST00000105981
AA Change: H531L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: H531L

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 benign
Transcript: ENSMUST00000141291
AA Change: H531L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: H531L

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 probably benign
Transcript: ENSMUST00000137846
AA Change: H373L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: H373L

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 unknown
Transcript: ENSMUST00000212761
AA Change: H253L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146021
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang6 T A 14: 44,239,458 (GRCm39) Y90F probably benign Het
Arhgef6 T A X: 56,290,992 (GRCm39) probably null Het
Ccdc88a A G 11: 29,374,772 (GRCm39) E115G probably damaging Het
Ceacam12 T A 7: 17,801,186 (GRCm39) V55E probably damaging Het
Depdc1a A T 3: 159,228,375 (GRCm39) R376* probably null Het
Dop1a A T 9: 86,402,999 (GRCm39) I1398F probably damaging Het
Eif2s1 T G 12: 78,913,420 (GRCm39) N40K possibly damaging Het
Frrs1 T A 3: 116,696,049 (GRCm39) W523R probably damaging Het
Gpatch8 T C 11: 102,369,704 (GRCm39) D1278G probably damaging Het
Mybpc1 C T 10: 88,372,246 (GRCm39) A795T probably damaging Het
Nrdc T C 4: 108,903,884 (GRCm39) probably benign Het
Os9 C T 10: 126,933,845 (GRCm39) R524K probably benign Het
Pisd T C 5: 32,895,756 (GRCm39) I441V probably benign Het
Plekha5 T A 6: 140,515,822 (GRCm39) probably benign Het
Prnp A G 2: 131,779,031 (GRCm39) R228G probably benign Het
Prrc2c G A 1: 162,525,685 (GRCm39) P307L unknown Het
Prss1 T C 6: 41,439,645 (GRCm39) V126A possibly damaging Het
Ptpn21 G A 12: 98,699,860 (GRCm39) S18F probably damaging Het
Setdb1 T C 3: 95,245,888 (GRCm39) D678G probably damaging Het
Sltm G T 9: 70,486,624 (GRCm39) V430L probably damaging Het
Sphkap A G 1: 83,256,565 (GRCm39) S395P probably damaging Het
Tas2r119 T C 15: 32,177,599 (GRCm39) I55T probably damaging Het
Tmc3 A C 7: 83,252,682 (GRCm39) E361A probably null Het
Uggt2 A T 14: 119,272,312 (GRCm39) S922T possibly damaging Het
Znhit1 A T 5: 137,011,437 (GRCm39) Y125* probably null Het
Other mutations in Epb41
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06