Incidental Mutation 'R8039:Epb41l1'
ID 618375
Institutional Source Beutler Lab
Gene Symbol Epb41l1
Ensembl Gene ENSMUSG00000027624
Gene Name erythrocyte membrane protein band 4.1 like 1
Synonyms 4.1N, Epb4.1l1
MMRRC Submission 067476-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8039 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 156262829-156385134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156348332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 312 (D312V)
Ref Sequence ENSEMBL: ENSMUSP00000121161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029155] [ENSMUST00000103136] [ENSMUST00000103137] [ENSMUST00000109574] [ENSMUST00000109577] [ENSMUST00000125153]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029155
AA Change: D312V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624
AA Change: D312V

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
B41 93 288 6.19e-78 SMART
FERM_C 292 382 2.47e-39 SMART
FA 384 430 1.9e-17 SMART
low complexity region 459 472 N/A INTRINSIC
Pfam:SAB 493 544 8.4e-25 PFAM
low complexity region 606 615 N/A INTRINSIC
Pfam:4_1_CTD 770 867 5.9e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103136
AA Change: D312V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624
AA Change: D312V

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
B41 93 288 6.19e-78 SMART
FERM_C 292 382 2.47e-39 SMART
FA 384 430 1.9e-17 SMART
low complexity region 459 472 N/A INTRINSIC
Pfam:SAB 493 544 8.4e-25 PFAM
low complexity region 606 615 N/A INTRINSIC
Pfam:4_1_CTD 770 867 5.9e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103137
AA Change: D312V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624
AA Change: D312V

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
B41 93 288 6.19e-78 SMART
FERM_C 292 382 2.47e-39 SMART
FA 384 430 1.9e-17 SMART
low complexity region 459 472 N/A INTRINSIC
Pfam:SAB 493 544 5.9e-25 PFAM
low complexity region 606 615 N/A INTRINSIC
Pfam:4_1_CTD 740 866 1.6e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109574
AA Change: D312V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105202
Gene: ENSMUSG00000027624
AA Change: D312V

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
B41 93 288 6.19e-78 SMART
FERM_C 292 382 2.47e-39 SMART
FA 384 430 1.9e-17 SMART
low complexity region 458 471 N/A INTRINSIC
Pfam:SAB 480 531 4.8e-24 PFAM
Pfam:4_1_CTD 610 718 4.9e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109577
AA Change: D312V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624
AA Change: D312V

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
B41 93 288 6.19e-78 SMART
FERM_C 292 382 2.47e-39 SMART
FA 384 430 1.9e-17 SMART
low complexity region 459 472 N/A INTRINSIC
Pfam:SAB 481 532 5.9e-24 PFAM
low complexity region 594 603 N/A INTRINSIC
Pfam:4_1_CTD 758 855 5.8e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125153
AA Change: D312V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121161
Gene: ENSMUSG00000027624
AA Change: D312V

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
B41 93 288 6.19e-78 SMART
FERM_C 292 382 2.47e-39 SMART
FA 384 430 1.9e-17 SMART
low complexity region 458 471 N/A INTRINSIC
Pfam:SAB 492 543 7.4e-25 PFAM
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit no obvious phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,547,699 (GRCm39) H225R probably damaging Het
Adgrb2 T A 4: 129,916,061 (GRCm39) L1451Q probably damaging Het
Afdn T C 17: 14,119,403 (GRCm39) L1713P probably damaging Het
Agr2 A T 12: 36,045,558 (GRCm39) I15F probably benign Het
Agrn T C 4: 156,253,468 (GRCm39) T1808A probably benign Het
Akap6 A G 12: 53,188,459 (GRCm39) I1958V probably benign Het
Ankrd60 C A 2: 173,414,284 (GRCm39) probably null Het
Anpep A G 7: 79,489,148 (GRCm39) probably null Het
Apoa4 A T 9: 46,153,591 (GRCm39) D64V possibly damaging Het
Arhgef26 C A 3: 62,247,351 (GRCm39) T145N probably benign Het
Art1 A T 7: 101,756,052 (GRCm39) Q81L probably benign Het
Astl A T 2: 127,185,903 (GRCm39) S71C probably damaging Het
Atp2a1 A G 7: 126,047,977 (GRCm39) I611T probably damaging Het
Bltp1 T A 3: 36,997,363 (GRCm39) V1140E probably benign Het
Cacna2d2 T A 9: 107,404,632 (GRCm39) V1139D possibly damaging Het
Castor1 G T 11: 4,171,639 (GRCm39) A288S probably damaging Het
Chst10 T A 1: 38,905,112 (GRCm39) K198* probably null Het
Ckmt2 G A 13: 92,011,431 (GRCm39) H60Y possibly damaging Het
Coq7 G C 7: 118,132,469 (GRCm39) S2R possibly damaging Het
Cspp1 T A 1: 10,183,238 (GRCm39) D814E probably benign Het
Cyp2c54 CCTCTTTCATAGCTCT CCTCT 19: 40,062,176 (GRCm39) probably null Het
Daam2 C A 17: 49,771,566 (GRCm39) G860V probably damaging Het
Ecm2 A T 13: 49,668,326 (GRCm39) I10F probably benign Het
Epsti1 G A 14: 78,168,741 (GRCm39) R126H probably damaging Het
Erc1 A T 6: 119,750,626 (GRCm39) Y367* probably null Het
Erh T A 12: 80,684,352 (GRCm39) R42W probably damaging Het
Fam124a C T 14: 62,843,325 (GRCm39) Q278* probably null Het
Fbxo3 T A 2: 103,885,286 (GRCm39) L385Q probably damaging Het
Fbxo31 T A 8: 122,285,794 (GRCm39) T219S probably damaging Het
Fstl5 T G 3: 76,555,725 (GRCm39) V534G possibly damaging Het
Gbp2b A T 3: 142,323,925 (GRCm39) I577F probably benign Het
Gbp8 A T 5: 105,198,783 (GRCm39) L44* probably null Het
Gck C T 11: 5,860,301 (GRCm39) A114T probably benign Het
Gtf2i A G 5: 134,284,688 (GRCm39) V537A possibly damaging Het
Iqcm C A 8: 76,489,733 (GRCm39) H400Q probably damaging Het
Iqcn T C 8: 71,163,555 (GRCm39) V916A probably benign Het
Itpr1 T C 6: 108,363,589 (GRCm39) L737P probably damaging Het
Jakmip1 A G 5: 37,258,116 (GRCm39) E254G probably damaging Het
Kif15 A T 9: 122,836,490 (GRCm39) R1095W possibly damaging Het
Klhdc8a G A 1: 132,230,846 (GRCm39) R237Q probably benign Het
Klhl38 T C 15: 58,186,258 (GRCm39) E157G probably benign Het
Klrk1 T A 6: 129,589,786 (GRCm39) N221I probably benign Het
Lhx8 A T 3: 154,012,576 (GRCm39) H345Q probably damaging Het
Lims1 T A 10: 58,245,494 (GRCm39) N174K probably benign Het
Madd T A 2: 90,997,406 (GRCm39) Q754L probably benign Het
Mau2 T C 8: 70,472,440 (GRCm39) D581G probably damaging Het
Miga1 A T 3: 151,982,393 (GRCm39) I561N probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mob3c T C 4: 115,688,884 (GRCm39) V139A probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nalf1 T C 8: 9,257,892 (GRCm39) T419A probably benign Het
Ncapd2 C T 6: 125,157,989 (GRCm39) V380I probably damaging Het
Nes G A 3: 87,884,315 (GRCm39) R858K probably benign Het
Nphp3 T C 9: 103,909,162 (GRCm39) S791P probably benign Het
Nup210 T C 6: 91,047,215 (GRCm39) T496A probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4c100 C T 2: 88,356,215 (GRCm39) T96I probably benign Het
Or6y1 T A 1: 174,277,162 (GRCm39) S324R unknown Het
Or8b50 T A 9: 38,518,685 (GRCm39) M308K probably benign Het
Ovgp1 T A 3: 105,883,339 (GRCm39) S105T probably benign Het
Pbld2 T A 10: 62,883,771 (GRCm39) C79S probably damaging Het
Pik3cd T A 4: 149,744,323 (GRCm39) M143L possibly damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Poln A G 5: 34,280,016 (GRCm39) V282A probably benign Het
Ppp1r11 T C 17: 37,262,338 (GRCm39) T21A probably damaging Het
Prpf8 T A 11: 75,393,368 (GRCm39) I1664N possibly damaging Het
Prr29 C T 11: 106,267,738 (GRCm39) A161V probably benign Het
Rasa3 T C 8: 13,638,931 (GRCm39) D292G probably damaging Het
Rnf25 T C 1: 74,633,123 (GRCm39) T411A probably damaging Het
Rraga C T 4: 86,494,217 (GRCm39) T21I probably damaging Het
Setdb2 T A 14: 59,639,824 (GRCm39) Y673F probably damaging Het
Sf3a1 C T 11: 4,117,787 (GRCm39) T183I probably damaging Het
Shank3 A T 15: 89,389,642 (GRCm39) H413L probably damaging Het
Slc30a5 A G 13: 100,950,189 (GRCm39) probably null Het
Slc6a18 T C 13: 73,813,745 (GRCm39) S523G probably benign Het
Spaca1 C T 4: 34,044,207 (GRCm39) V96I probably damaging Het
Sycp2 C T 2: 178,016,378 (GRCm39) A695T probably benign Het
Tnrc18 C A 5: 142,717,807 (GRCm39) G2216C unknown Het
Trak2 T C 1: 58,985,447 (GRCm39) N17S probably benign Het
Ttn T A 2: 76,708,776 (GRCm39) N8792I unknown Het
Ttyh1 T C 7: 4,125,540 (GRCm39) V64A probably benign Het
Usb1 T A 8: 96,060,041 (GRCm39) S50R probably damaging Het
Ush2a T A 1: 188,689,570 (GRCm39) I5044N probably damaging Het
Vmn1r84 A T 7: 12,095,935 (GRCm39) F253I possibly damaging Het
Vmn2r99 T C 17: 19,600,302 (GRCm39) I442T probably benign Het
Vsig1 C T X: 139,833,875 (GRCm39) H232Y probably benign Het
Other mutations in Epb41l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Epb41l1 APN 2 156,366,939 (GRCm39) missense probably damaging 1.00
IGL00852:Epb41l1 APN 2 156,345,638 (GRCm39) missense probably damaging 1.00
IGL02148:Epb41l1 APN 2 156,353,748 (GRCm39) intron probably benign
IGL02164:Epb41l1 APN 2 156,336,869 (GRCm39) splice site probably benign
IGL02515:Epb41l1 APN 2 156,378,933 (GRCm39) missense probably damaging 1.00
R0787:Epb41l1 UTSW 2 156,336,010 (GRCm39) missense probably damaging 0.98
R1450:Epb41l1 UTSW 2 156,353,745 (GRCm39) intron probably benign
R1566:Epb41l1 UTSW 2 156,363,879 (GRCm39) missense probably benign 0.06
R1759:Epb41l1 UTSW 2 156,363,894 (GRCm39) missense probably benign 0.06
R1812:Epb41l1 UTSW 2 156,338,431 (GRCm39) missense probably damaging 1.00
R1908:Epb41l1 UTSW 2 156,352,737 (GRCm39) missense possibly damaging 0.80
R2152:Epb41l1 UTSW 2 156,356,048 (GRCm39) missense probably damaging 1.00
R3023:Epb41l1 UTSW 2 156,356,129 (GRCm39) missense probably damaging 0.99
R4178:Epb41l1 UTSW 2 156,363,477 (GRCm39) missense probably benign
R4491:Epb41l1 UTSW 2 156,364,088 (GRCm39) missense probably benign 0.00
R4610:Epb41l1 UTSW 2 156,351,181 (GRCm39) missense possibly damaging 0.71
R4770:Epb41l1 UTSW 2 156,371,344 (GRCm39) missense probably benign 0.00
R5038:Epb41l1 UTSW 2 156,363,330 (GRCm39) missense probably benign 0.12
R5049:Epb41l1 UTSW 2 156,366,859 (GRCm39) missense possibly damaging 0.95
R5129:Epb41l1 UTSW 2 156,351,201 (GRCm39) missense possibly damaging 0.80
R5624:Epb41l1 UTSW 2 156,375,691 (GRCm39) splice site probably benign
R5780:Epb41l1 UTSW 2 156,338,445 (GRCm39) missense probably damaging 1.00
R5810:Epb41l1 UTSW 2 156,341,575 (GRCm39) missense probably damaging 1.00
R5952:Epb41l1 UTSW 2 156,366,903 (GRCm39) missense probably benign
R5952:Epb41l1 UTSW 2 156,345,708 (GRCm39) missense probably damaging 1.00
R5961:Epb41l1 UTSW 2 156,363,706 (GRCm39) missense probably benign 0.25
R6118:Epb41l1 UTSW 2 156,364,397 (GRCm39) missense probably benign 0.13
R6496:Epb41l1 UTSW 2 156,375,716 (GRCm39) missense possibly damaging 0.92
R6861:Epb41l1 UTSW 2 156,367,142 (GRCm39) missense probably benign
R6959:Epb41l1 UTSW 2 156,341,507 (GRCm39) missense probably benign 0.03
R7009:Epb41l1 UTSW 2 156,376,603 (GRCm39) splice site probably null
R7036:Epb41l1 UTSW 2 156,371,322 (GRCm39) missense probably benign
R7046:Epb41l1 UTSW 2 156,368,812 (GRCm39) missense possibly damaging 0.56
R7263:Epb41l1 UTSW 2 156,337,043 (GRCm39) critical splice donor site probably null
R7322:Epb41l1 UTSW 2 156,345,771 (GRCm39) missense probably damaging 0.98
R7398:Epb41l1 UTSW 2 156,376,682 (GRCm39) missense probably damaging 1.00
R7914:Epb41l1 UTSW 2 156,364,128 (GRCm39) missense probably benign 0.03
R8357:Epb41l1 UTSW 2 156,367,171 (GRCm39) missense probably benign 0.16
R8415:Epb41l1 UTSW 2 156,368,873 (GRCm39) missense probably benign 0.00
R8457:Epb41l1 UTSW 2 156,367,171 (GRCm39) missense probably benign 0.16
R8458:Epb41l1 UTSW 2 156,363,684 (GRCm39) missense probably benign 0.00
R8475:Epb41l1 UTSW 2 156,364,150 (GRCm39) missense probably damaging 0.98
R8790:Epb41l1 UTSW 2 156,345,722 (GRCm39) missense possibly damaging 0.62
R8851:Epb41l1 UTSW 2 156,364,431 (GRCm39) missense probably benign 0.03
R8898:Epb41l1 UTSW 2 156,335,869 (GRCm39) missense probably damaging 0.97
R8955:Epb41l1 UTSW 2 156,363,923 (GRCm39) missense probably benign 0.01
R8988:Epb41l1 UTSW 2 156,363,591 (GRCm39) missense probably benign 0.25
R9060:Epb41l1 UTSW 2 156,345,679 (GRCm39) nonsense probably null
R9121:Epb41l1 UTSW 2 156,364,487 (GRCm39) missense probably benign
R9602:Epb41l1 UTSW 2 156,367,068 (GRCm39) missense probably damaging 0.99
R9644:Epb41l1 UTSW 2 156,367,165 (GRCm39) missense possibly damaging 0.51
R9690:Epb41l1 UTSW 2 156,356,038 (GRCm39) missense probably damaging 0.99
X0065:Epb41l1 UTSW 2 156,351,197 (GRCm39) missense probably damaging 1.00
Z1177:Epb41l1 UTSW 2 156,350,747 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CCAAGTGGCTGTAGAATGGATG -3'
(R):5'- TGGGGCCCACTCTATTAAGTTC -3'

Sequencing Primer
(F):5'- CTGTAGAATGGATGGCCGATC -3'
(R):5'- ATTAAGTTCAGTCACCCCTGGAG -3'
Posted On 2020-01-23