Incidental Mutation 'R4178:Epb41l1'
ID 319581
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 040864-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4178 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 156262829-156385134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156363477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 662 (Y662C)
Ref Sequence ENSEMBL: ENSMUSP00000121161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029155] [ENSMUST00000103135] [ENSMUST00000103136] [ENSMUST00000103137] [ENSMUST00000109572] [ENSMUST00000109574] [ENSMUST00000125153] [ENSMUST00000109577]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029155
SMART Domains Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624

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 benign
Transcript: ENSMUST00000103135
SMART Domains Protein: ENSMUSP00000099424
Gene: ENSMUSG00000027624

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 benign
Transcript: ENSMUST00000103136
SMART Domains Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624

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 benign
Transcript: ENSMUST00000103137
SMART Domains Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624

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 benign
Transcript: ENSMUST00000109572
SMART Domains Protein: ENSMUSP00000105200
Gene: ENSMUSG00000027624

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 benign
Transcript: ENSMUST00000109574
SMART Domains Protein: ENSMUSP00000105202
Gene: ENSMUSG00000027624

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 benign
Transcript: ENSMUST00000125153
AA Change: Y662C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121161
Gene: ENSMUSG00000027624
AA Change: Y662C

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 probably benign
Transcript: ENSMUST00000109577
SMART Domains Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxrl A G 14: 33,776,928 (GRCm39) probably null Het
Atp2b2 A T 6: 113,770,679 (GRCm39) V410E probably damaging Het
C6 G A 15: 4,764,621 (GRCm39) V106I probably benign Het
Cdhr1 A C 14: 36,804,896 (GRCm39) probably null Het
Cfap44 T A 16: 44,272,216 (GRCm39) L1323Q possibly damaging Het
Ehd4 T A 2: 119,984,829 (GRCm39) Y43F probably damaging Het
Eno1 T C 4: 150,328,490 (GRCm39) I90T possibly damaging Het
Fkbp14 A G 6: 54,566,299 (GRCm39) L103P probably damaging Het
Gm10322 C A 10: 59,452,052 (GRCm39) N56K probably benign Het
Iqcd C A 5: 120,740,476 (GRCm39) T269K probably damaging Het
Kat6b T A 14: 21,668,972 (GRCm39) C249* probably null Het
Kcnab2 T C 4: 152,489,058 (GRCm39) R109G probably null Het
Obox7 A G 7: 14,398,032 (GRCm39) Q24R probably damaging Het
Obox7 C A 7: 14,398,031 (GRCm39) Q24K probably damaging Het
Or5p1 A G 7: 107,916,565 (GRCm39) N155D probably damaging Het
Or5p68 G A 7: 107,945,765 (GRCm39) T141I probably benign Het
Or8g18 A C 9: 39,149,375 (GRCm39) L115* probably null Het
Rasgrf2 C T 13: 92,038,717 (GRCm39) G1043D probably damaging Het
Slf1 A G 13: 77,191,688 (GRCm39) S1049P probably damaging Het
Smc1b A T 15: 85,004,848 (GRCm39) F409I possibly damaging Het
Tab2 A G 10: 7,795,123 (GRCm39) V453A probably damaging Het
Ubr4 A G 4: 139,120,725 (GRCm39) Y338C probably damaging Het
Usp6nl A G 2: 6,445,787 (GRCm39) E588G probably benign Het
Vcan T C 13: 89,873,666 (GRCm39) R63G probably damaging Het
Zfp775 A G 6: 48,590,187 (GRCm39) probably null Het
Zfpm2 T C 15: 40,966,940 (GRCm39) C1010R 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
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
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'- ACTCTCCAAGGTAGACATTCTGG -3'
(R):5'- TGTTTGCGCTGGATCCAAC -3'

Sequencing Primer
(F):5'- CTCCAAGGTAGACATTCTGGTGGAC -3'
(R):5'- TGCGCTGGATCCAACAGGAAG -3'
Posted On 2015-06-10