Incidental Mutation 'R5226:Epb41l4a'
ID 402646
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 042799-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5226 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 33929380-34140019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33943366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 510 (D510N)
Ref Sequence ENSEMBL: ENSMUSP00000025234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025234]
AlphaFold P52963
Predicted Effect probably damaging
Transcript: ENSMUST00000025234
AA Change: D510N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: D510N

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
Meta Mutation Damage Score 0.1530 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (66/66)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,056,706 (GRCm39) K98E possibly damaging Het
4933414I15Rik A T 11: 50,833,416 (GRCm39) M62K unknown Het
Akr1d1 T A 6: 37,512,949 (GRCm39) probably null Het
Ankrd63 T C 2: 118,533,736 (GRCm39) probably benign Het
Atad5 T C 11: 79,985,888 (GRCm39) V325A probably damaging Het
Atp13a5 G T 16: 29,067,031 (GRCm39) N1025K probably damaging Het
Atrnl1 G T 19: 57,638,767 (GRCm39) V302L probably benign Het
Bend7 C A 2: 4,757,789 (GRCm39) S277* probably null Het
Btnl7-ps A T 17: 34,752,261 (GRCm39) noncoding transcript Het
Cbx4 T C 11: 118,972,754 (GRCm39) Y207C probably damaging Het
Ctla2b C T 13: 61,044,146 (GRCm39) W63* probably null Het
Cux1 T C 5: 136,399,027 (GRCm39) T170A probably benign Het
Cyp3a57 T C 5: 145,302,507 (GRCm39) V101A probably benign Het
Dao A T 5: 114,159,094 (GRCm39) T267S probably benign Het
Dsp A G 13: 38,370,746 (GRCm39) D883G probably damaging Het
Dynlt4 A G 4: 116,985,290 (GRCm39) T38A possibly damaging Het
Eif4g3 C A 4: 137,824,105 (GRCm39) P36T possibly damaging Het
Elf3 G A 1: 135,184,977 (GRCm39) L70F probably benign Het
Gcn1 T C 5: 115,726,126 (GRCm39) S594P probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Gpr132 T C 12: 112,815,768 (GRCm39) T353A probably benign Het
Kntc1 A G 5: 123,932,235 (GRCm39) D1343G probably benign Het
L3mbtl4 T A 17: 69,071,717 (GRCm39) probably null Het
Lrit2 A G 14: 36,794,310 (GRCm39) E458G probably damaging Het
Man1c1 A T 4: 134,305,680 (GRCm39) I348N probably damaging Het
Map4k2 A G 19: 6,396,534 (GRCm39) probably benign Het
Nt5c2 A C 19: 46,887,068 (GRCm39) Y203D probably damaging Het
Oxgr1 A G 14: 120,259,665 (GRCm39) S181P probably damaging Het
Parn A G 16: 13,443,416 (GRCm39) C400R probably benign Het
Pcdhgb7 T C 18: 37,885,577 (GRCm39) V249A probably benign Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plcg2 A T 8: 118,304,613 (GRCm39) I273F possibly damaging Het
Plin1 A G 7: 79,372,447 (GRCm39) V64A probably damaging Het
Ppfia4 C A 1: 134,232,024 (GRCm39) probably null Het
Prkg2 A C 5: 99,124,321 (GRCm39) D376E possibly damaging Het
Ptgir T A 7: 16,642,645 (GRCm39) I82N probably damaging Het
Pum2 C T 12: 8,763,458 (GRCm39) P205L possibly damaging Het
Rab26 T A 17: 24,753,107 (GRCm39) probably benign Het
Recql4 T C 15: 76,594,329 (GRCm39) E63G probably benign Het
Rora T A 9: 69,271,423 (GRCm39) probably benign Het
Rp1 A C 1: 4,418,256 (GRCm39) M952R probably benign Het
Rpap3 T A 15: 97,601,104 (GRCm39) R44S possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc12a2 C A 18: 58,012,092 (GRCm39) P72T probably damaging Het
Slc1a3 C T 15: 8,671,709 (GRCm39) V416M probably damaging Het
Slfn4 A T 11: 83,078,375 (GRCm39) M388L possibly damaging Het
Snrnp48 G A 13: 38,389,093 (GRCm39) A49T probably benign Het
Tlx2 C T 6: 83,045,911 (GRCm39) G228D possibly damaging Het
Tmem132a A G 19: 10,844,508 (GRCm39) V30A possibly damaging Het
Tnfrsf23 C A 7: 143,239,522 (GRCm39) L24F possibly damaging Het
Ubr2 A T 17: 47,294,196 (GRCm39) N312K probably benign Het
Vmn1r115 C T 7: 20,578,169 (GRCm39) V248I probably damaging Het
Vmn2r80 A G 10: 79,029,874 (GRCm39) T567A probably benign Het
Vps13c A G 9: 67,852,835 (GRCm39) T2372A probably benign Het
Wnt10b G T 15: 98,674,495 (GRCm39) H81N probably damaging Het
Zfp948 A G 17: 21,808,505 (GRCm39) T566A 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
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
R7727:Epb41l4a UTSW 18 33,987,326 (GRCm39) missense probably damaging 1.00
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'- TCCCAGCTGACATGACTCATTAG -3'
(R):5'- AGGCTCTCTGTGTCTCTGAG -3'

Sequencing Primer
(F):5'- TCATTAGGAGACTGAGCACCCG -3'
(R):5'- GTCTCTGAGACAGGCTCTCTG -3'
Posted On 2016-07-22