Incidental Mutation 'R4014:Epb41'
ID 311855
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 040951-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4014 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 131650724-131802632 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 131709756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000030739] [ENSMUST00000054917] [ENSMUST00000084253] [ENSMUST00000105970] [ENSMUST00000105972] [ENSMUST00000105974] [ENSMUST00000105975] [ENSMUST00000141291] [ENSMUST00000105981] [ENSMUST00000137846]
AlphaFold P48193
Predicted Effect probably benign
Transcript: ENSMUST00000030739
SMART Domains Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906

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
SMART Domains Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906

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
SMART Domains Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906

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
SMART Domains Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906

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
SMART Domains Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906

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
SMART Domains Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906

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
SMART Domains Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906

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 noncoding transcript
Transcript: ENSMUST00000144754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146021
Predicted Effect probably benign
Transcript: ENSMUST00000141291
SMART Domains Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906

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: ENSMUST00000212761
Predicted Effect probably benign
Transcript: ENSMUST00000105981
SMART Domains Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906

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
SMART Domains Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 100% (49/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,811,559 (GRCm39) Q1008L probably benign Het
Adgrg7 A G 16: 56,562,651 (GRCm39) F562S probably damaging Het
Alms1 T A 6: 85,655,334 (GRCm39) N3293K probably benign Het
Cdk20 T A 13: 64,585,319 (GRCm39) V201D probably benign Het
Cenpf A G 1: 189,385,356 (GRCm39) V2308A probably benign Het
Chek1 T C 9: 36,634,050 (GRCm39) probably benign Het
Ciz1 G T 2: 32,264,356 (GRCm39) E497D probably damaging Het
Clcn6 A G 4: 148,102,067 (GRCm39) F339S probably damaging Het
Dctpp1 G A 7: 126,856,285 (GRCm39) R146C probably damaging Het
Dennd5a C T 7: 109,534,688 (GRCm39) probably null Het
Dmxl1 G A 18: 49,997,029 (GRCm39) V442I probably benign Het
Dmxl2 C A 9: 54,285,993 (GRCm39) probably null Het
Dnah11 A G 12: 117,938,649 (GRCm39) I3273T probably benign Het
Dnhd1 T A 7: 105,364,045 (GRCm39) D4132E probably damaging Het
Dst G A 1: 34,230,363 (GRCm39) W2327* probably null Het
Frem2 C T 3: 53,559,774 (GRCm39) V1578I probably benign Het
Fsip2 A G 2: 82,813,862 (GRCm39) T3394A probably benign Het
Gabra5 C T 7: 57,138,758 (GRCm39) D97N probably damaging Het
Habp2 A G 19: 56,308,054 (GRCm39) E546G probably benign Het
Hace1 A G 10: 45,464,470 (GRCm39) probably benign Het
Herc4 T C 10: 63,123,323 (GRCm39) S433P probably benign Het
Igf2bp2 T C 16: 21,882,426 (GRCm39) N425S probably damaging Het
Krt26 C T 11: 99,226,128 (GRCm39) G189S probably damaging Het
Lama2 A T 10: 26,860,372 (GRCm39) D3038E probably damaging Het
Lmbrd2 T C 15: 9,151,672 (GRCm39) probably benign Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Map2k7 T A 8: 4,297,663 (GRCm39) S421R possibly damaging Het
Matn1 A G 4: 130,679,258 (GRCm39) Q304R possibly damaging Het
Muc4 C T 16: 32,575,647 (GRCm39) probably benign Het
Muc5b G A 7: 141,417,367 (GRCm39) V3438M probably benign Het
Myo3a A G 2: 22,468,182 (GRCm39) R479G possibly damaging Het
Mzf1 A G 7: 12,777,883 (GRCm39) V586A possibly damaging Het
Or7g12 T C 9: 18,900,178 (GRCm39) V298A probably benign Het
Or9g20 A T 2: 85,629,820 (GRCm39) Y265N probably damaging Het
Pcdhgb7 A T 18: 37,885,416 (GRCm39) E195D probably benign Het
Pde4b A G 4: 102,412,822 (GRCm39) D199G probably benign Het
Rnf213 C T 11: 119,336,555 (GRCm39) Q3309* probably null Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc22a4 C G 11: 53,888,218 (GRCm39) C270S probably benign Het
Smarca2 G A 19: 26,661,327 (GRCm39) probably null Het
Spata31d1c T C 13: 65,183,213 (GRCm39) S252P probably damaging Het
Tyr A G 7: 87,087,148 (GRCm39) S455P probably benign Het
Urb1 A T 16: 90,566,353 (GRCm39) M1478K probably damaging Het
Usp1 A G 4: 98,822,939 (GRCm39) D751G probably damaging Het
Vmn1r214 G A 13: 23,219,520 (GRCm39) C338Y probably benign Het
Vmn2r103 A G 17: 20,013,866 (GRCm39) I219M possibly damaging Het
Wwp2 A G 8: 108,212,253 (GRCm39) N139S 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
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
Predicted Primers PCR Primer
(F):5'- TAGTGCTGAGATTCTAGGCATG -3'
(R):5'- TCTCATCCCGTAATTATGTTGAGG -3'

Sequencing Primer
(F):5'- CCAGGCCAAAAATTGTTTCTCAGG -3'
(R):5'- GAGGATTCAAAAATGTGTGTATGTG -3'
Posted On 2015-04-29