Incidental Mutation 'R7265:Epb41'
ID 564856
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 045355-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7265 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 131650724-131802632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131695145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 14 (E14G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030739] [ENSMUST00000054917] [ENSMUST00000084253] [ENSMUST00000105970] [ENSMUST00000105972] [ENSMUST00000105974] [ENSMUST00000105975] [ENSMUST00000105981] [ENSMUST00000137846] [ENSMUST00000141291]
AlphaFold P48193
Predicted Effect probably benign
Transcript: ENSMUST00000030739
AA Change: E594G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: E594G

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: E594G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: E594G

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: E594G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: E594G

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: E442G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: E442G

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: E594G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: E594G

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: E559G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
AA Change: E559G

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 unknown
Transcript: ENSMUST00000135579
AA Change: E14G
SMART Domains Protein: ENSMUSP00000121764
Gene: ENSMUSG00000028906
AA Change: E14G

DomainStartEndE-ValueType
Pfam:SAB 28 76 2e-24 PFAM
low complexity region 148 159 N/A INTRINSIC
low complexity region 206 217 N/A INTRINSIC
Pfam:4_1_CTD 264 371 6.6e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105975
AA Change: E619G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: E619G

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: E594G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: E594G

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: ENSMUST00000137846
AA Change: E436G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: E436G

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 benign
Transcript: ENSMUST00000141291
AA Change: E594G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: E594G

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: ENSMUST00000146443
AA Change: E4G
SMART Domains Protein: ENSMUSP00000122234
Gene: ENSMUSG00000028906
AA Change: E4G

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
Pfam:SAB 53 101 7e-26 PFAM
Pfam:4_1_CTD 139 246 2.8e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212761
AA Change: E315G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb3 A G 11: 30,948,495 (GRCm39) E57G probably benign Het
B3glct A G 5: 149,632,785 (GRCm39) D45G probably benign Het
BC034090 C A 1: 155,101,073 (GRCm39) C397F probably damaging Het
Bicd1 A G 6: 149,415,374 (GRCm39) K696E probably damaging Het
Btnl4 C T 17: 34,694,868 (GRCm39) C15Y probably benign Het
Cabin1 T C 10: 75,557,257 (GRCm39) N300S Het
Chia1 T A 3: 106,036,239 (GRCm39) L273Q probably damaging Het
Coq2 A G 5: 100,808,136 (GRCm39) S222P possibly damaging Het
Dgkb T C 12: 38,234,931 (GRCm39) V432A possibly damaging Het
Dpp3 A G 19: 4,973,797 (GRCm39) F92S probably damaging Het
Elapor2 T C 5: 9,496,975 (GRCm39) V813A possibly damaging Het
Emcn T C 3: 137,122,839 (GRCm39) S183P probably damaging Het
Emcn T A 3: 137,124,837 (GRCm39) W217R probably damaging Het
Enpp2 A C 15: 54,773,429 (GRCm39) probably null Het
Fhip1b G T 7: 105,033,432 (GRCm39) R609S probably benign Het
Grk4 A G 5: 34,873,608 (GRCm39) R225G probably damaging Het
Insl6 A T 19: 29,298,945 (GRCm39) W156R possibly damaging Het
Ints3 A T 3: 90,311,290 (GRCm39) probably null Het
Jarid2 G A 13: 45,055,748 (GRCm39) G318D probably benign Het
Kif16b A T 2: 142,556,650 (GRCm39) L596H probably damaging Het
Lctl T A 9: 64,034,203 (GRCm39) Y281N probably damaging Het
Letm1 A T 5: 33,935,992 (GRCm39) C34S possibly damaging Het
Lrrc32 T C 7: 98,148,644 (GRCm39) S475P probably damaging Het
Lrrc37a T A 11: 103,389,767 (GRCm39) D1886V probably benign Het
Macf1 A T 4: 123,301,670 (GRCm39) I944K probably benign Het
Mark4 T C 7: 19,185,650 (GRCm39) D28G probably benign Het
Mecom C A 3: 30,034,282 (GRCm39) A465S possibly damaging Het
Muc16 A G 9: 18,567,768 (GRCm39) S1584P unknown Het
Mycbp2 A G 14: 103,434,679 (GRCm39) probably null Het
Myo18b G A 5: 112,959,938 (GRCm39) R1372W probably damaging Het
Myo1c T C 11: 75,560,616 (GRCm39) I706T possibly damaging Het
Myo1g T C 11: 6,460,933 (GRCm39) T704A possibly damaging Het
Nwd1 A G 8: 73,419,556 (GRCm39) K914E probably benign Het
Or5ac20 T A 16: 59,104,287 (GRCm39) D191V probably damaging Het
Or8b101 A T 9: 38,020,227 (GRCm39) I77L possibly damaging Het
Or8k23 C T 2: 86,186,088 (GRCm39) V213I probably benign Het
Otub2 C T 12: 103,366,480 (GRCm39) S99L probably damaging Het
Pak5 G A 2: 135,943,105 (GRCm39) S345L probably benign Het
Pcdhb20 A T 18: 37,638,616 (GRCm39) I381F possibly damaging Het
Pcdhga7 A G 18: 37,849,969 (GRCm39) T659A probably damaging Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Pik3c2a T A 7: 115,987,321 (GRCm39) K533N probably damaging Het
Pkd1l1 T A 11: 8,879,402 (GRCm39) Q933L Het
Ppp4r3a A T 12: 101,019,770 (GRCm39) M395K possibly damaging Het
Pramel11 C A 4: 143,621,991 (GRCm39) V455L probably benign Het
Ptpn20 A G 14: 33,336,481 (GRCm39) T107A probably benign Het
Scaf8 T A 17: 3,227,900 (GRCm39) D376E unknown Het
Scn11a C A 9: 119,644,331 (GRCm39) C143F probably damaging Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Sec13 A T 6: 113,712,097 (GRCm39) Y79* probably null Het
Sez6 T A 11: 77,853,691 (GRCm39) I287N probably damaging Het
Slc52a3 T A 2: 151,846,336 (GRCm39) I99K possibly damaging Het
Slco4c1 T G 1: 96,799,518 (GRCm39) H106P probably damaging Het
Tada2b A G 5: 36,633,952 (GRCm39) Y209H probably damaging Het
Tas1r2 T A 4: 139,396,963 (GRCm39) D796E probably benign Het
Tdrd12 A T 7: 35,187,147 (GRCm39) M581K Het
Thnsl1 A G 2: 21,217,269 (GRCm39) E341G probably damaging Het
Tlk2 C T 11: 105,075,070 (GRCm39) R11* probably null Het
Tmco6 T C 18: 36,872,396 (GRCm39) probably null Het
Trmt44 A T 5: 35,721,647 (GRCm39) H505Q probably benign Het
Trpc1 T C 9: 95,590,328 (GRCm39) M710V probably benign Het
Ttc21b T C 2: 66,040,517 (GRCm39) E858G possibly damaging Het
Twsg1 C T 17: 66,236,782 (GRCm39) D83N possibly damaging Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Vmn2r6 T C 3: 64,464,195 (GRCm39) N213S probably benign Het
Vmn2r88 G A 14: 51,655,776 (GRCm39) V662I Het
Zfp414 C A 17: 33,850,253 (GRCm39) D217E 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
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'- AGGCAGTTGGTAAGAGATGACTTC -3'
(R):5'- TCACCCTGTGACTTTGAGGTC -3'

Sequencing Primer
(F):5'- TCTTTTAGAAACAATGAGAAAGGGC -3'
(R):5'- TAAGGAGAGTGACACCTGCCTTC -3'
Posted On 2019-06-26