Incidental Mutation 'R5810:Epb41l1'
ID 447447
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 043395-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5810 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 156262829-156385134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156341575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 187 (I187F)
Ref Sequence ENSEMBL: ENSMUSP00000105202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029155] [ENSMUST00000103135] [ENSMUST00000103136] [ENSMUST00000103137] [ENSMUST00000109572] [ENSMUST00000109574] [ENSMUST00000109577] [ENSMUST00000125153]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029155
AA Change: I187F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624
AA Change: I187F

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: ENSMUST00000103135
AA Change: I187F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099424
Gene: ENSMUSG00000027624
AA Change: I187F

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: ENSMUST00000103136
AA Change: I187F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624
AA Change: I187F

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: I187F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624
AA Change: I187F

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: ENSMUST00000109572
AA Change: I187F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105200
Gene: ENSMUSG00000027624
AA Change: I187F

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
B41 93 215 5.6e-12 SMART
FERM_C 219 309 1.2e-43 SMART
FA 311 357 9e-22 SMART
low complexity region 386 399 N/A INTRINSIC
Pfam:SAB 408 459 2.2e-21 PFAM
Pfam:4_1_CTD 514 619 1.3e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109574
AA Change: I187F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105202
Gene: ENSMUSG00000027624
AA Change: I187F

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 possibly damaging
Transcript: ENSMUST00000109577
AA Change: I187F

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624
AA Change: I187F

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 possibly damaging
Transcript: ENSMUST00000125153
AA Change: I187F

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121161
Gene: ENSMUSG00000027624
AA Change: I187F

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 noncoding transcript
Transcript: ENSMUST00000141109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142048
Meta Mutation Damage Score 0.4069 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (66/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,079,631 (GRCm39) F866L probably benign Het
Abca16 T A 7: 120,035,155 (GRCm39) C314S probably damaging Het
Actl11 C T 9: 107,806,420 (GRCm39) P248S probably benign Het
Actr3 A G 1: 125,344,116 (GRCm39) probably benign Het
Baz1a G A 12: 54,974,500 (GRCm39) probably benign Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Bpifa5 G A 2: 154,005,638 (GRCm39) probably null Het
Car13 A C 3: 14,706,828 (GRCm39) probably null Het
Ceacam18 A T 7: 43,286,382 (GRCm39) H85L probably benign Het
Cnnm3 A G 1: 36,564,280 (GRCm39) E704G probably benign Het
Cyp4f14 T A 17: 33,125,072 (GRCm39) I450F possibly damaging Het
Ddhd1 G T 14: 45,840,164 (GRCm39) T710N probably damaging Het
Ddx60 C T 8: 62,465,422 (GRCm39) Q1360* probably null Het
Dlg5 A G 14: 24,196,322 (GRCm39) V1625A probably damaging Het
Dst G A 1: 34,222,121 (GRCm39) probably benign Het
Dyrk2 G T 10: 118,696,245 (GRCm39) H338N probably benign Het
Esd A G 14: 74,983,051 (GRCm39) D221G probably damaging Het
Fam53b T A 7: 132,361,893 (GRCm39) N45I probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fryl A T 5: 73,248,098 (GRCm39) D1006E probably benign Het
Gli3 T C 13: 15,818,894 (GRCm39) V232A probably damaging Het
Gm28308 C A 6: 52,190,196 (GRCm39) probably benign Het
Gpatch1 G A 7: 34,994,796 (GRCm39) A490V probably benign Het
Hoxa7 T C 6: 52,193,004 (GRCm39) D128G probably benign Het
Igdcc4 A G 9: 65,035,977 (GRCm39) T751A probably damaging Het
Igsf10 G A 3: 59,226,492 (GRCm39) L2394F probably damaging Het
Il15ra A G 2: 11,738,063 (GRCm39) probably null Het
Il17re C T 6: 113,446,557 (GRCm39) A436V probably damaging Het
Krtap19-2 T C 16: 88,671,124 (GRCm39) probably benign Het
Larp7-ps A T 4: 92,079,820 (GRCm39) probably null Het
Lgals12 T C 19: 7,584,085 (GRCm39) D4G probably benign Het
Liph A T 16: 21,786,860 (GRCm39) L252Q probably damaging Het
Mtg1 T A 7: 139,725,898 (GRCm39) probably null Het
Myo18b A G 5: 112,982,316 (GRCm39) L1139P probably damaging Het
Ninl T C 2: 150,792,088 (GRCm39) R812G probably benign Het
Npm3 A G 19: 45,736,644 (GRCm39) I165T possibly damaging Het
Or1e22 G T 11: 73,376,921 (GRCm39) S243* probably null Het
Osbpl9 A G 4: 108,943,571 (GRCm39) V231A probably benign Het
Pgam2 T C 11: 5,753,417 (GRCm39) H91R possibly damaging Het
Pkhd1 A G 1: 20,270,897 (GRCm39) W3219R probably benign Het
Procr A G 2: 155,593,327 (GRCm39) K4E possibly damaging Het
Slc22a16 C T 10: 40,471,314 (GRCm39) T495I possibly damaging Het
Slc22a6 A G 19: 8,601,222 (GRCm39) K425E probably damaging Het
Slco6c1 A T 1: 97,003,598 (GRCm39) C500S probably damaging Het
Snrpd2 G T 7: 18,886,447 (GRCm39) V77F probably benign Het
Sp100 G A 1: 85,593,006 (GRCm39) G145D probably benign Het
Spg7 G A 8: 123,821,308 (GRCm39) E678K possibly damaging Het
Ssh1 T C 5: 114,084,627 (GRCm39) K538E probably benign Het
Sspo C T 6: 48,460,832 (GRCm39) R3356W probably benign Het
Stx1a G T 5: 135,077,932 (GRCm39) V255F probably damaging Het
Tbc1d13 C A 2: 30,032,380 (GRCm39) Q164K probably benign Het
Tfpi AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA 2: 84,264,768 (GRCm39) probably benign Het
Tpm2 T C 4: 43,518,968 (GRCm39) probably benign Het
Triobp T C 15: 78,852,467 (GRCm39) C874R probably benign Het
Tymp T A 15: 89,258,534 (GRCm39) H269L probably damaging Het
Vmn1r194 T A 13: 22,428,597 (GRCm39) Y71* probably null Het
Vmn2r102 T C 17: 19,897,804 (GRCm39) V273A probably benign Het
Vmn2r2 A T 3: 64,024,815 (GRCm39) C589S probably damaging Het
Vps13a T C 19: 16,643,688 (GRCm39) T2063A probably benign Het
Ywhaz T C 15: 36,775,510 (GRCm39) I217M probably damaging Het
Zfp322a A C 13: 23,541,579 (GRCm39) Y54* probably null Het
Zswim9 A T 7: 12,994,662 (GRCm39) V498D probably damaging 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
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
R8039:Epb41l1 UTSW 2 156,348,332 (GRCm39) missense probably damaging 0.99
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'- ATTAACGCAGCATGCACGC -3'
(R):5'- CGGCATTTAGATACATCTGTCCTTC -3'

Sequencing Primer
(F):5'- TGAACTCAGGTCATCAAGCCTGG -3'
(R):5'- AGATACATCTGTCCTTCTAAAGGCAC -3'
Posted On 2016-12-15