Incidental Mutation 'R5049:Epb41l1'
ID 394504
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 042639-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5049 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 156262829-156385134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 156366859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 564 (P564Q)
Ref Sequence ENSEMBL: ENSMUSP00000105205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029155] [ENSMUST00000103135] [ENSMUST00000103136] [ENSMUST00000103137] [ENSMUST00000109574] [ENSMUST00000109577] [ENSMUST00000125153]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029155
AA Change: P576Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624
AA Change: P576Q

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 possibly damaging
Transcript: ENSMUST00000103135
AA Change: P576Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099424
Gene: ENSMUSG00000027624
AA Change: P576Q

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 possibly damaging
Transcript: ENSMUST00000103136
AA Change: P576Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624
AA Change: P576Q

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 possibly damaging
Transcript: ENSMUST00000103137
AA Change: P576Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624
AA Change: P576Q

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: 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 possibly damaging
Transcript: ENSMUST00000109577
AA Change: P564Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624
AA Change: P564Q

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 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
Meta Mutation Damage Score 0.0742 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 95.8%
  • 20x: 90.4%
Validation Efficiency 97% (89/92)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,321,698 (GRCm39) S76P probably damaging Het
Acot8 A G 2: 164,641,610 (GRCm39) probably benign Het
Angptl7 A G 4: 148,582,468 (GRCm39) F143L probably benign Het
Atxn7l1 A G 12: 33,408,686 (GRCm39) T283A probably benign Het
Bltp1 T A 3: 37,094,655 (GRCm39) probably benign Het
Bltp1 T C 3: 37,095,539 (GRCm39) M1016T probably damaging Het
Brd3 G T 2: 27,340,589 (GRCm39) probably benign Het
C130026L21Rik T A 5: 111,729,702 (GRCm39) noncoding transcript Het
Cbr4 T G 8: 61,948,238 (GRCm39) probably null Het
Ccl19 A G 4: 42,756,268 (GRCm39) probably null Het
Ccl2 G T 11: 81,927,333 (GRCm39) C34F probably damaging Het
Dnah12 A T 14: 26,456,852 (GRCm39) T873S probably benign Het
Dnah2 T C 11: 69,338,992 (GRCm39) N3118S probably damaging Het
Elapor2 A G 5: 9,478,488 (GRCm39) T451A probably damaging Het
Extl3 A T 14: 65,313,481 (GRCm39) M567K probably benign Het
Fhip2a T C 19: 57,374,737 (GRCm39) I704T possibly damaging Het
Foxf2 T C 13: 31,811,158 (GRCm39) S366P probably benign Het
Gamt T A 10: 80,094,788 (GRCm39) T186S probably benign Het
Gcn1 T A 5: 115,744,730 (GRCm39) M1642K probably damaging Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Golga1 A T 2: 38,937,747 (GRCm39) M115K probably damaging Het
Hapstr1 T A 16: 8,661,073 (GRCm39) D183E probably damaging Het
Herc3 A G 6: 58,871,524 (GRCm39) probably null Het
Hes2 C A 4: 152,244,331 (GRCm39) L39I possibly damaging Het
Hopx C A 5: 77,242,899 (GRCm39) probably benign Het
Idi1 C T 13: 8,938,078 (GRCm39) P175S probably damaging Het
Ifit1bl1 A T 19: 34,571,481 (GRCm39) C325* probably null Het
Ighv7-3 T C 12: 114,116,953 (GRCm39) I70V probably benign Het
Kcnq3 T C 15: 66,157,746 (GRCm39) T110A probably benign Het
Kif5a T C 10: 127,075,708 (GRCm39) D451G possibly damaging Het
Lama3 A G 18: 12,715,668 (GRCm39) E1708G probably benign Het
Lrriq4 T A 3: 30,705,086 (GRCm39) D371E probably damaging Het
Lyst T A 13: 13,810,649 (GRCm39) V773E probably damaging Het
Map4 T A 9: 109,908,882 (GRCm39) L23* probably null Het
Mapkbp1 G T 2: 119,845,982 (GRCm39) probably benign Het
Mrpl30 A T 1: 37,936,791 (GRCm39) D52V possibly damaging Het
Or10ag57 A T 2: 87,219,002 (GRCm39) T318S probably benign Het
Or13j1 A T 4: 43,706,259 (GRCm39) L103Q probably damaging Het
Pard3b T A 1: 62,200,320 (GRCm39) H286Q probably benign Het
Parp4 A G 14: 56,873,188 (GRCm39) K1144R possibly damaging Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pkhd1l1 T C 15: 44,321,012 (GRCm39) S22P probably benign Het
Prss32 A T 17: 24,078,221 (GRCm39) E302D possibly damaging Het
Prss45 A G 9: 110,669,538 (GRCm39) K205E probably damaging Het
Puf60 T A 15: 75,942,323 (GRCm39) I500F probably damaging Het
Ryr3 A T 2: 112,470,516 (GRCm39) I4623N probably damaging Het
Sh3bp5l T A 11: 58,228,950 (GRCm39) probably benign Het
Slc3a1 T G 17: 85,340,273 (GRCm39) Y232D probably damaging Het
Slc8a3 A G 12: 81,260,906 (GRCm39) Y608H probably damaging Het
Socs7 G T 11: 97,269,469 (GRCm39) R429L probably benign Het
Sorcs3 C A 19: 48,748,390 (GRCm39) N786K possibly damaging Het
Sp4 A T 12: 118,218,207 (GRCm39) M680K probably benign Het
Tas2r131 T C 6: 132,934,540 (GRCm39) T90A probably damaging Het
Tasor2 A T 13: 3,624,000 (GRCm39) H1983Q probably benign Het
Tbx21 T C 11: 97,005,536 (GRCm39) H143R probably benign Het
Tg T A 15: 66,699,231 (GRCm39) C833* probably null Het
Tmem245 A G 4: 56,925,057 (GRCm39) S355P probably benign Het
Tmem86b G A 7: 4,631,465 (GRCm39) P191S possibly damaging Het
Tnc A G 4: 63,936,223 (GRCm39) C238R probably damaging Het
Tnn T A 1: 159,968,308 (GRCm39) E361D probably benign Het
Tpp2 T C 1: 44,040,633 (GRCm39) V298A possibly damaging Het
Trav7-6 A G 14: 53,954,536 (GRCm39) N22S probably damaging Het
Trim75 T C 8: 65,435,091 (GRCm39) probably null Het
Trrap T A 5: 144,763,527 (GRCm39) I2492N probably damaging Het
Ufl1 G T 4: 25,254,773 (GRCm39) A561E probably benign Het
Uqcc1 A G 2: 155,752,341 (GRCm39) V86A probably damaging Het
Vmn1r184 A G 7: 25,966,793 (GRCm39) I180V possibly damaging Het
Vmn1r185 A G 7: 26,310,920 (GRCm39) F195S possibly damaging Het
Vmn2r4 A C 3: 64,306,019 (GRCm39) probably null Het
Vmn2r87 T C 10: 130,308,298 (GRCm39) T647A probably damaging Het
Vps13d A T 4: 144,813,336 (GRCm39) H198Q probably damaging Het
Wdfy4 T C 14: 32,874,627 (GRCm39) T154A possibly damaging Het
Xirp2 A G 2: 67,347,478 (GRCm39) M3240V probably benign Het
Zfp101 T C 17: 33,600,872 (GRCm39) R295G possibly damaging Het
Zfp619 G A 7: 39,184,938 (GRCm39) V323I probably benign Het
Zfy1 A T Y: 726,004 (GRCm39) I587N possibly damaging Het
Zswim6 C T 13: 107,863,110 (GRCm39) noncoding transcript 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
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'- AAGGAAACCTTTCTGGGGTG -3'
(R):5'- GGAGAAGTCTTCAAAGGCGC -3'

Sequencing Primer
(F):5'- AAACCTTTCTGGGGTGTTTTTCC -3'
(R):5'- GCCGCCATGGTAGTCAC -3'
Posted On 2016-06-15