Incidental Mutation 'R3741:Epb41l4a'
ID 270386
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 040727-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3741 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 33929380-34140019 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 33961155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025234]
AlphaFold P52963
Predicted Effect probably null
Transcript: ENSMUST00000025234
SMART Domains Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376

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 0.9363 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 97% (37/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T C 1: 139,406,357 (GRCm39) V1748A possibly damaging Het
Atp10b A T 11: 43,126,489 (GRCm39) S1082C probably damaging Het
Atp8b2 C G 3: 89,853,338 (GRCm39) A726P probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bbip1 T C 19: 53,920,606 (GRCm39) M1V probably null Het
Bbox1 A G 2: 110,135,922 (GRCm39) I19T possibly damaging Het
Bclaf3 T A X: 158,334,828 (GRCm39) H41Q probably benign Het
Ctsm T A 13: 61,687,441 (GRCm39) Q107L probably benign Het
Ctso G A 3: 81,859,556 (GRCm39) V288I probably benign Het
Cyp2a4 A C 7: 26,007,969 (GRCm39) K125N probably damaging Het
Dapk1 T C 13: 60,896,014 (GRCm39) S701P probably benign Het
Dnah1 A G 14: 30,987,424 (GRCm39) probably benign Het
Dnah11 A G 12: 118,095,076 (GRCm39) M718T probably benign Het
Dnah2 C A 11: 69,339,295 (GRCm39) A3071S probably damaging Het
Fam135a A T 1: 24,053,892 (GRCm39) M1215K probably damaging Het
Gm6489 T A 1: 31,326,764 (GRCm39) noncoding transcript Het
Hhipl1 A G 12: 108,284,976 (GRCm39) Y443C probably damaging Het
Hoxc13 G A 15: 102,829,873 (GRCm39) G84D possibly damaging Het
Ifi207 T C 1: 173,555,128 (GRCm39) I851M probably damaging Het
Lipk T G 19: 33,999,107 (GRCm39) L134R probably damaging Het
Mov10l1 A G 15: 88,896,345 (GRCm39) N678D possibly damaging Het
Msrb3 A T 10: 120,620,119 (GRCm39) F67I probably damaging Het
Myo1a A G 10: 127,550,767 (GRCm39) D593G probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup210l A T 3: 90,114,701 (GRCm39) M1759L probably benign Het
Optn C A 2: 5,039,009 (GRCm39) M371I possibly damaging Het
Rims1 A T 1: 22,443,667 (GRCm39) V380D probably damaging Het
Rnf148 A G 6: 23,654,064 (GRCm39) C311R possibly damaging Het
Rrp12 T C 19: 41,874,167 (GRCm39) D377G probably damaging Het
Sbp T A 17: 24,164,556 (GRCm39) probably benign Het
Sipa1 T C 19: 5,704,885 (GRCm39) E570G probably damaging Het
Spem2 T C 11: 69,707,556 (GRCm39) R470G possibly damaging Het
Syngr4 T C 7: 45,545,194 (GRCm39) E5G possibly damaging Het
Tmem88b A G 4: 155,869,884 (GRCm39) L59P probably damaging Het
Ttn T A 2: 76,620,703 (GRCm39) K13995* probably null Het
Vmn1r69 A G 7: 10,314,069 (GRCm39) Y221H possibly damaging Het
Zfp386 T A 12: 116,023,170 (GRCm39) L296* probably null 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
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
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'- AGCTCTACTTTCCAACGTGG -3'
(R):5'- TACGCTGGACTTGTGAAGACTC -3'

Sequencing Primer
(F):5'- ATTTAAATACAGAGAGCAAGTGACC -3'
(R):5'- TTGTGAAGACTCCCAAGCTG -3'
Posted On 2015-03-18