Incidental Mutation 'IGL02164:Epb41l1'
ID 282626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epb41l1
Ensembl Gene ENSMUSG00000027624
Gene Name erythrocyte membrane protein band 4.1 like 1
Synonyms 4.1N, Epb4.1l1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02164
Quality Score
Status
Chromosome 2
Chromosomal Location 156262829-156385134 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 156336869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121161 (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 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
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
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: 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141109
Predicted Effect probably benign
Transcript: ENSMUST00000125153
SMART Domains Protein: ENSMUSP00000121161
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 492 543 7.4e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142048
Coding Region Coverage
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik T A 5: 48,537,524 (GRCm39) V187E probably benign Het
Abcc12 T A 8: 87,254,033 (GRCm39) D917V probably damaging Het
Abhd15 A T 11: 77,406,840 (GRCm39) E272D probably benign Het
Adat3 T A 10: 80,442,461 (GRCm39) S100T probably benign Het
Adgrg6 T C 10: 14,399,299 (GRCm39) probably benign Het
Alpl C T 4: 137,481,290 (GRCm39) V121M probably damaging Het
Ano1 A T 7: 144,190,918 (GRCm39) Y388N possibly damaging Het
Arrdc4 C T 7: 68,389,285 (GRCm39) probably benign Het
Asxl2 A G 12: 3,552,079 (GRCm39) M1274V probably benign Het
Bmt2 G T 6: 13,628,878 (GRCm39) N268K possibly damaging Het
Bpifb2 C A 2: 153,725,482 (GRCm39) L176M probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cd14 T C 18: 36,858,838 (GRCm39) R206G possibly damaging Het
Cfap65 G T 1: 74,967,304 (GRCm39) T215K possibly damaging Het
Chd9 T C 8: 91,659,849 (GRCm39) S270P possibly damaging Het
Cidea C T 18: 67,499,581 (GRCm39) S156L probably damaging Het
Col5a3 A G 9: 20,703,939 (GRCm39) probably null Het
Cspg5 T C 9: 110,080,104 (GRCm39) V424A probably damaging Het
Ctc1 A G 11: 68,916,922 (GRCm39) H272R probably damaging Het
D5Ertd579e A T 5: 36,772,303 (GRCm39) S697R probably damaging Het
Dennd3 T C 15: 73,416,297 (GRCm39) S516P probably benign Het
Dipk2b T A X: 18,285,192 (GRCm39) R421* probably null Het
Dlgap4 G A 2: 156,553,059 (GRCm39) R509H probably damaging Het
Dus3l T C 17: 57,074,943 (GRCm39) probably benign Het
Dync1h1 G T 12: 110,628,993 (GRCm39) W4183C probably damaging Het
Eif2s3x A T X: 93,248,678 (GRCm39) M152K possibly damaging Het
Ephx2 A G 14: 66,341,169 (GRCm39) probably benign Het
Fabp12 T A 3: 10,311,075 (GRCm39) Y129F probably damaging Het
Fat3 A G 9: 15,942,720 (GRCm39) probably benign Het
Fat4 T C 3: 39,050,354 (GRCm39) probably null Het
Gnb1 T A 4: 155,641,631 (GRCm39) probably null Het
Gpr107 C A 2: 31,068,298 (GRCm39) Y253* probably null Het
Grb10 C T 11: 11,893,962 (GRCm39) E320K probably damaging Het
Gucy2g G T 19: 55,226,455 (GRCm39) H154N probably benign Het
H2bl1 T C 13: 99,120,715 (GRCm39) K104E probably damaging Het
Hemk1 T A 9: 107,208,735 (GRCm39) H154L probably benign Het
Hk2 A T 6: 82,720,920 (GRCm39) probably null Het
Htr5a A G 5: 28,047,463 (GRCm39) N6S probably damaging Het
Htra3 T C 5: 35,810,410 (GRCm39) D424G probably benign Het
Ift52 A G 2: 162,867,384 (GRCm39) probably null Het
Igdcc4 A G 9: 65,032,064 (GRCm39) probably benign Het
Itpr1 A G 6: 108,366,444 (GRCm39) K124E probably benign Het
Kcnc2 T A 10: 112,291,590 (GRCm39) N259K possibly damaging Het
Kics2 A G 10: 121,586,675 (GRCm39) Y194C probably damaging Het
Lmod2 A T 6: 24,603,909 (GRCm39) I295F possibly damaging Het
Lrp1 T C 10: 127,399,536 (GRCm39) E2324G probably benign Het
Lss T C 10: 76,372,094 (GRCm39) S150P probably damaging Het
Macf1 T C 4: 123,374,065 (GRCm39) N1515S probably benign Het
Mapk11 T C 15: 89,029,651 (GRCm39) probably null Het
Mc3r T A 2: 172,091,314 (GRCm39) F179I probably damaging Het
Mtmr9 T A 14: 63,767,737 (GRCm39) N291Y probably damaging Het
Myo1h T C 5: 114,472,157 (GRCm39) F396L probably damaging Het
Nek2 A G 1: 191,559,416 (GRCm39) K307R probably benign Het
Or12d2 C A 17: 37,624,578 (GRCm39) M232I probably benign Het
Osmr G A 15: 6,871,529 (GRCm39) T296I probably damaging Het
Pcdhb11 T G 18: 37,556,412 (GRCm39) S581A probably benign Het
Pfkp C T 13: 6,647,951 (GRCm39) V542M probably damaging Het
Pmpca C T 2: 26,285,581 (GRCm39) S519L probably benign Het
Ptgds A T 2: 25,359,124 (GRCm39) Y44N probably damaging Het
Raly T A 2: 154,701,849 (GRCm39) Y116* probably null Het
Rock2 A G 12: 17,015,530 (GRCm39) D809G probably damaging Het
Sgsm2 T G 11: 74,756,242 (GRCm39) N369T possibly damaging Het
Slc6a15 A G 10: 103,254,083 (GRCm39) D673G probably benign Het
Spire2 A T 8: 124,059,703 (GRCm39) D67V probably damaging Het
St7l T C 3: 104,829,597 (GRCm39) probably null Het
Stau2 A G 1: 16,416,052 (GRCm39) L469P probably damaging Het
Tefm A G 11: 80,030,915 (GRCm39) L107S probably damaging Het
Ticam1 A T 17: 56,577,019 (GRCm39) V692D unknown Het
Tipin T A 9: 64,201,631 (GRCm39) D143E probably damaging Het
Tmem132c C A 5: 127,613,441 (GRCm39) T448K probably damaging Het
Trav8-1 A T 14: 53,707,213 (GRCm39) M1L unknown Het
Ttn C A 2: 76,569,141 (GRCm39) V27251F probably damaging Het
Uvrag A T 7: 98,653,896 (GRCm39) C31* probably null Het
Zap70 T C 1: 36,810,267 (GRCm39) Y126H probably damaging Het
Zfp644 A G 5: 106,785,965 (GRCm39) V194A probably benign Het
Zfp663 C T 2: 165,200,968 (GRCm39) W22* probably null 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
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
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
Posted On 2015-04-16