Incidental Mutation 'R7857:Epb41l4a'
ID 607310
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 045910-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7857 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 33929380-34140019 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 34139098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 13 (C13*)
Ref Sequence ENSEMBL: ENSMUSP00000025234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025234]
AlphaFold P52963
Predicted Effect probably null
Transcript: ENSMUST00000025234
AA Change: C13*
SMART Domains Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: C13*

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,454,104 (GRCm39) N307I probably benign Het
Ahnak G A 19: 8,984,832 (GRCm39) V2039M probably damaging Het
Arhgef40 T A 14: 52,226,212 (GRCm39) H85Q probably damaging Het
Ash1l T A 3: 88,891,616 (GRCm39) L1165* probably null Het
Cck A G 9: 121,322,514 (GRCm39) W100R probably damaging Het
Cdon A G 9: 35,367,908 (GRCm39) R268G possibly damaging Het
Cldn12 T C 5: 5,558,209 (GRCm39) T73A probably benign Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Ctnnd2 A T 15: 30,620,076 (GRCm39) T143S probably benign Het
Cyp2b13 T A 7: 25,788,153 (GRCm39) L427Q possibly damaging Het
Dnah3 A T 7: 119,550,927 (GRCm39) Y152N probably damaging Het
Dsg1b A T 18: 20,529,520 (GRCm39) M322L probably benign Het
Efhc1 T C 1: 21,045,226 (GRCm39) M414T probably benign Het
Elp3 G A 14: 65,800,759 (GRCm39) T302M probably benign Het
Entpd6 T C 2: 150,607,473 (GRCm39) probably null Het
Ephb6 T C 6: 41,590,331 (GRCm39) S28P probably benign Het
Fbxo21 T C 5: 118,126,878 (GRCm39) S210P probably benign Het
Gapvd1 T A 2: 34,619,079 (GRCm39) E98V probably benign Het
Gcdh A G 8: 85,619,093 (GRCm39) V157A probably damaging Het
Gm10638 G T 8: 87,472,891 (GRCm39) R188L unknown Het
Grk3 T C 5: 113,109,427 (GRCm39) T177A unknown Het
Gsc T G 12: 104,438,424 (GRCm39) E148A probably damaging Het
Hacd4 C T 4: 88,355,702 (GRCm39) G61E probably damaging Het
Herc3 G A 6: 58,820,637 (GRCm39) W7* probably null Het
Il1rl2 T C 1: 40,366,642 (GRCm39) Y59H probably benign Het
Irag1 T A 7: 110,522,742 (GRCm39) K234* probably null Het
Kif1c A G 11: 70,619,103 (GRCm39) T913A probably benign Het
Lipg C T 18: 75,078,891 (GRCm39) G454R probably damaging Het
Lrrc74a A G 12: 86,788,485 (GRCm39) D155G probably benign Het
Ltf A T 9: 110,851,444 (GRCm39) I137F probably benign Het
Med19 T A 2: 84,515,969 (GRCm39) M166K probably damaging Het
Mei1 A T 15: 81,976,918 (GRCm39) Y167F not run Het
Ncaph A C 2: 126,946,165 (GRCm39) D724E probably damaging Het
Neb T A 2: 52,112,996 (GRCm39) D4266V probably damaging Het
Npffr1 G T 10: 61,449,765 (GRCm39) W13L probably benign Het
Or51b6 A T 7: 103,555,817 (GRCm39) H54L Het
Pcdha12 A T 18: 37,155,468 (GRCm39) D729V probably benign Het
Pcdha7 A T 18: 37,108,892 (GRCm39) E639V probably damaging Het
Pcdhb18 A T 18: 37,624,364 (GRCm39) M565L probably benign Het
Plcd3 A T 11: 102,968,760 (GRCm39) D310E probably benign Het
Pmm2 C G 16: 8,460,632 (GRCm39) Q29E probably benign Het
Poli T G 18: 70,642,225 (GRCm39) E658D probably benign Het
Prss22 G A 17: 24,212,853 (GRCm39) R295C probably damaging Het
Psg26 A G 7: 18,212,215 (GRCm39) I380T possibly damaging Het
Reep5 A T 18: 34,505,521 (GRCm39) V50E possibly damaging Het
Rfx7 A G 9: 72,500,605 (GRCm39) T122A possibly damaging Het
Robo1 A G 16: 72,767,099 (GRCm39) N424D probably damaging Het
Slc4a7 T C 14: 14,772,624 (GRCm38) V711A probably benign Het
Smc4 T C 3: 68,940,552 (GRCm39) V1162A possibly damaging Het
Snta1 A T 2: 154,225,817 (GRCm39) L189H probably benign Het
Tmem121 C T 12: 113,152,696 (GRCm39) R305C possibly damaging Het
Tmem68 A G 4: 3,551,825 (GRCm39) V271A probably damaging Het
Tmx4 T G 2: 134,481,582 (GRCm39) M114L probably benign Het
Trps1 T A 15: 50,524,401 (GRCm39) R1176S probably damaging Het
Usp21 A G 1: 171,114,335 (GRCm39) L63P probably benign Het
Vmn2r84 T A 10: 130,226,738 (GRCm39) M367L probably benign Het
Wbp2nl A G 15: 82,190,273 (GRCm39) N67S probably benign Het
Wdr35 T C 12: 9,058,113 (GRCm39) probably null Het
Zfp236 G A 18: 82,686,726 (GRCm39) Q271* probably null Het
Zfp831 T C 2: 174,547,035 (GRCm39) V1406A probably benign Het
Zfp934 G A 13: 62,665,361 (GRCm39) H459Y 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
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
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'- ATCCTCTGTTTGAAGCCGGG -3'
(R):5'- TTAGCCAGGCGACTCTTGTTG -3'

Sequencing Primer
(F):5'- TTTGAAGCCGGGGACTGC -3'
(R):5'- ACCCCTGTCTCCAGAAGAGG -3'
Posted On 2019-12-20