Incidental Mutation 'R7727:Epb41l4a'
ID 595596
Institutional Source Beutler Lab
Gene Symbol Epb41l4a
Ensembl Gene ENSMUSG00000024376
Gene Name erythrocyte membrane protein band 4.1 like 4a
Synonyms NBL4, Epb4.1l4a
MMRRC Submission 045783-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7727 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 33929380-34140019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 33987326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 350 (K350N)
Ref Sequence ENSEMBL: ENSMUSP00000025234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025234]
AlphaFold P52963
Predicted Effect probably damaging
Transcript: ENSMUST00000025234
AA Change: K350N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: K350N

DomainStartEndE-ValueType
B41 7 211 3.32e-78 SMART
FERM_C 215 303 1.48e-28 SMART
FA 310 357 2.25e-10 SMART
low complexity region 468 494 N/A INTRINSIC
low complexity region 533 543 N/A INTRINSIC
low complexity region 589 606 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (69/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A T 16: 85,696,854 (GRCm39) L101Q probably damaging Het
Arhgap18 A T 10: 26,746,007 (GRCm39) I293F possibly damaging Het
Atp8b1 T A 18: 64,678,346 (GRCm39) Q850L probably damaging Het
B4galnt3 A T 6: 120,202,148 (GRCm39) F118Y probably benign Het
Bcl6 A G 16: 23,790,163 (GRCm39) probably null Het
Cc2d2b T A 19: 40,744,974 (GRCm39) L31Q probably benign Het
Cd5l G T 3: 87,275,162 (GRCm39) E234* probably null Het
Cemip2 C T 19: 21,807,321 (GRCm39) L917F probably benign Het
Cfap65 T C 1: 74,965,784 (GRCm39) T409A probably benign Het
Chst5 A T 8: 112,617,557 (GRCm39) I21N probably benign Het
Cldn20 T C 17: 3,583,030 (GRCm39) Y68H probably benign Het
Col4a4 T C 1: 82,506,514 (GRCm39) M269V unknown Het
Dgkh A G 14: 78,832,585 (GRCm39) probably null Het
Dpp6 A G 5: 27,656,242 (GRCm39) T166A probably benign Het
Drosha A G 15: 12,881,731 (GRCm39) D754G probably damaging Het
Fsd1 T G 17: 56,295,150 (GRCm39) D46E probably benign Het
Gabra1 T C 11: 42,024,418 (GRCm39) D419G probably damaging Het
Golga4 T A 9: 118,377,770 (GRCm39) D458E probably damaging Het
Grm6 C A 11: 50,742,369 (GRCm39) A134E probably benign Het
Ikzf1 T A 11: 11,698,339 (GRCm39) S63R probably damaging Het
Ilvbl G A 10: 78,412,500 (GRCm39) V74I probably benign Het
Kcng2 C T 18: 80,339,305 (GRCm39) V328M probably benign Het
Kpna7 T C 5: 144,941,855 (GRCm39) E145G probably benign Het
Krt81 A G 15: 101,357,448 (GRCm39) V428A probably damaging Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lrpprc T C 17: 85,084,375 (GRCm39) S113G probably benign Het
Mboat1 A C 13: 30,410,289 (GRCm39) M249L probably benign Het
Meltf T C 16: 31,702,612 (GRCm39) V113A probably damaging Het
Muc16 T A 9: 18,571,538 (GRCm39) H327L unknown Het
Myh1 A G 11: 67,106,748 (GRCm39) I1277V probably benign Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Naga C A 15: 82,214,348 (GRCm39) V388L probably benign Het
Nfkb1 A C 3: 135,291,162 (GRCm39) M957R possibly damaging Het
Nol12 C A 15: 78,824,793 (GRCm39) S157* probably null Het
Or13c25 A G 4: 52,911,368 (GRCm39) V142A possibly damaging Het
Or5g23 A G 2: 85,438,751 (GRCm39) F168L possibly damaging Het
Or8u3-ps A T 2: 85,952,840 (GRCm39) D191V possibly damaging Het
Pcdhga5 T C 18: 37,828,098 (GRCm39) V182A probably benign Het
Pik3r4 A G 9: 105,547,081 (GRCm39) E953G probably damaging Het
Piwil2 C T 14: 70,631,506 (GRCm39) R646Q probably damaging Het
Plxnc1 T C 10: 94,779,971 (GRCm39) H157R probably damaging Het
Prrg4 A T 2: 104,669,723 (GRCm39) F131L probably benign Het
Prss3b C A 6: 41,010,127 (GRCm39) R69L probably benign Het
Rab28 A G 5: 41,865,313 (GRCm39) S4P probably damaging Het
Ranbp2 C A 10: 58,291,260 (GRCm39) Q209K probably benign Het
Schip1 G A 3: 67,972,317 (GRCm39) D15N probably benign Het
Serpina3f T G 12: 104,184,477 (GRCm39) M207R probably benign Het
Sgsm1 A T 5: 113,422,193 (GRCm39) M487K possibly damaging Het
Sh3tc2 A T 18: 62,122,651 (GRCm39) I471F probably benign Het
Slamf1 G A 1: 171,602,467 (GRCm39) V65I possibly damaging Het
Slit3 T C 11: 35,574,871 (GRCm39) C1062R probably damaging Het
Snapc4 T G 2: 26,263,446 (GRCm39) K344N probably damaging Het
Sorl1 A G 9: 41,895,822 (GRCm39) Y1778H probably damaging Het
Spon2 G A 5: 33,373,019 (GRCm39) R228C probably damaging Het
Sv2c A G 13: 96,113,203 (GRCm39) I582T possibly damaging Het
Tamm41 C T 6: 114,993,139 (GRCm39) V205M probably damaging Het
Trpm2 T C 10: 77,761,623 (GRCm39) D1009G probably benign Het
Trpm6 T C 19: 18,831,613 (GRCm39) S1493P probably damaging Het
Ttc34 G A 4: 154,923,731 (GRCm39) V147I possibly damaging Het
Tut7 A G 13: 59,947,496 (GRCm39) F942L probably benign Het
Uba2 C T 7: 33,850,275 (GRCm39) A393T probably damaging Het
Ubn2 T A 6: 38,440,873 (GRCm39) N416K probably benign Het
Uevld T C 7: 46,593,553 (GRCm39) N233S probably benign Het
Upp2 G A 2: 58,664,160 (GRCm39) M142I possibly damaging Het
Vps52 T A 17: 34,181,108 (GRCm39) V450D probably benign Het
Wdr31 A T 4: 62,378,873 (GRCm39) F118Y probably damaging Het
Zfp110 T A 7: 12,582,922 (GRCm39) D523E possibly damaging Het
Zfp367 A T 13: 64,293,457 (GRCm39) V143D probably damaging Het
Zfp950 T C 19: 61,108,379 (GRCm39) I235V probably benign Het
Other mutations in Epb41l4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Epb41l4a APN 18 33,934,678 (GRCm39) missense possibly damaging 0.95
IGL02942:Epb41l4a APN 18 34,007,254 (GRCm39) missense probably damaging 1.00
IGL03051:Epb41l4a APN 18 34,007,825 (GRCm39) missense probably damaging 1.00
IGL03236:Epb41l4a APN 18 33,943,272 (GRCm39) missense probably damaging 0.98
PIT1430001:Epb41l4a UTSW 18 33,930,400 (GRCm39) missense probably damaging 1.00
R0147:Epb41l4a UTSW 18 33,931,853 (GRCm39) missense probably damaging 0.98
R0148:Epb41l4a UTSW 18 33,931,853 (GRCm39) missense probably damaging 0.98
R0437:Epb41l4a UTSW 18 34,013,326 (GRCm39) missense probably damaging 1.00
R1511:Epb41l4a UTSW 18 33,965,717 (GRCm39) missense probably benign 0.01
R1666:Epb41l4a UTSW 18 34,054,962 (GRCm39) missense probably damaging 1.00
R1668:Epb41l4a UTSW 18 34,054,962 (GRCm39) missense probably damaging 1.00
R1750:Epb41l4a UTSW 18 33,961,261 (GRCm39) nonsense probably null
R2022:Epb41l4a UTSW 18 34,054,893 (GRCm39) missense probably benign 0.00
R2047:Epb41l4a UTSW 18 33,961,259 (GRCm39) missense probably benign 0.00
R2133:Epb41l4a UTSW 18 34,007,248 (GRCm39) missense probably damaging 1.00
R3741:Epb41l4a UTSW 18 33,961,155 (GRCm39) critical splice donor site probably null
R4393:Epb41l4a UTSW 18 34,024,473 (GRCm39) splice site probably null
R4700:Epb41l4a UTSW 18 33,935,560 (GRCm39) splice site probably null
R4878:Epb41l4a UTSW 18 33,931,625 (GRCm39) missense probably damaging 1.00
R5226:Epb41l4a UTSW 18 33,943,366 (GRCm39) missense probably damaging 1.00
R5284:Epb41l4a UTSW 18 33,931,853 (GRCm39) missense probably damaging 0.98
R5584:Epb41l4a UTSW 18 33,987,324 (GRCm39) missense probably damaging 1.00
R5945:Epb41l4a UTSW 18 33,961,783 (GRCm39) missense possibly damaging 0.89
R6005:Epb41l4a UTSW 18 33,961,196 (GRCm39) missense probably benign
R6038:Epb41l4a UTSW 18 33,987,388 (GRCm39) missense probably benign
R6038:Epb41l4a UTSW 18 33,987,388 (GRCm39) missense probably benign
R6177:Epb41l4a UTSW 18 33,931,868 (GRCm39) splice site probably null
R6188:Epb41l4a UTSW 18 33,965,718 (GRCm39) missense probably benign
R6314:Epb41l4a UTSW 18 34,007,208 (GRCm39) missense probably damaging 1.00
R6552:Epb41l4a UTSW 18 34,012,032 (GRCm39) missense probably damaging 1.00
R7605:Epb41l4a UTSW 18 33,930,504 (GRCm39) missense probably damaging 0.99
R7665:Epb41l4a UTSW 18 34,139,069 (GRCm39) missense possibly damaging 0.92
R7729:Epb41l4a UTSW 18 33,987,326 (GRCm39) missense probably damaging 1.00
R7802:Epb41l4a UTSW 18 33,961,227 (GRCm39) missense probably benign 0.19
R7857:Epb41l4a UTSW 18 34,139,098 (GRCm39) nonsense probably null
R8281:Epb41l4a UTSW 18 34,011,998 (GRCm39) missense probably damaging 1.00
R9029:Epb41l4a UTSW 18 34,012,042 (GRCm39) nonsense probably null
R9135:Epb41l4a UTSW 18 33,965,729 (GRCm39) missense probably benign 0.17
R9326:Epb41l4a UTSW 18 33,961,261 (GRCm39) nonsense probably null
R9405:Epb41l4a UTSW 18 33,943,271 (GRCm39) critical splice donor site probably null
R9555:Epb41l4a UTSW 18 34,009,966 (GRCm39) missense possibly damaging 0.90
X0028:Epb41l4a UTSW 18 33,935,590 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- ATTGCCATGTGTGTACCCTC -3'
(R):5'- AAGCCTGTATGGTTATGGCC -3'

Sequencing Primer
(F):5'- ACACATACAAACATGCGTATCACGTG -3'
(R):5'- GCAAATGAGCCGAGATCT -3'
Posted On 2019-11-12