Incidental Mutation 'IGL03236:Epb41l4a'
ID414063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epb41l4a
Ensembl Gene ENSMUSG00000024376
Gene Nameerythrocyte membrane protein band 4.1 like 4a
SynonymsNBL4, Epb4.1l4a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03236
Quality Score
Status
Chromosome18
Chromosomal Location33796327-34007206 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 33810219 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 541 (S541L)
Ref Sequence ENSEMBL: ENSMUSP00000025234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025234]
Predicted Effect probably damaging
Transcript: ENSMUST00000025234
AA Change: S541L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: S541L

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A G 4: 144,519,916 T11A probably benign Het
Abca17 A G 17: 24,326,476 probably benign Het
Aox2 G T 1: 58,309,997 E641* probably null Het
Arhgef10l G T 4: 140,611,360 D30E probably damaging Het
Arhgef37 A T 18: 61,523,826 I56N probably damaging Het
Cwf19l1 T C 19: 44,127,448 I181V probably benign Het
Dnaic2 A G 11: 114,757,249 probably benign Het
Elp2 A G 18: 24,622,243 probably benign Het
Ibsp A C 5: 104,306,005 N70H probably benign Het
Ikzf1 A G 11: 11,707,848 E35G probably damaging Het
Kdm5a T C 6: 120,438,988 V1623A probably damaging Het
Kpna7 A T 5: 144,985,694 V499E unknown Het
Krtap4-16 C A 11: 99,851,136 R146L unknown Het
Map2k5 T A 9: 63,286,392 probably benign Het
Mfn2 A G 4: 147,882,105 F543S probably damaging Het
Mical3 A G 6: 120,969,384 L1052P probably benign Het
Mycbp2 T C 14: 103,298,698 N272S probably damaging Het
Ndel1 A G 11: 68,842,150 Y87H probably benign Het
Ndnf G A 6: 65,696,172 V45M possibly damaging Het
Nr3c1 A G 18: 39,486,391 I281T probably benign Het
Ntm A G 9: 29,109,506 V139A probably benign Het
Olfr205 A C 16: 59,328,837 V224G probably damaging Het
Pkhd1l1 T G 15: 44,581,826 V3698G probably damaging Het
Plcb1 A G 2: 135,346,306 Y773C probably damaging Het
Prkaca T A 8: 83,990,445 F138Y probably damaging Het
Qser1 T C 2: 104,786,532 T1312A probably benign Het
Slc47a2 T C 11: 61,313,679 E282G probably damaging Het
Smchd1 G A 17: 71,391,430 T1117I possibly damaging Het
Utp6 A G 11: 79,960,741 probably benign Het
Vmn1r66 T A 7: 10,275,063 K14N probably damaging Het
Vmn1r71 A T 7: 10,748,284 V93E probably benign Het
Zfp768 G A 7: 127,343,970 L329F possibly damaging Het
Other mutations in Epb41l4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Epb41l4a APN 18 33801625 missense possibly damaging 0.95
IGL02942:Epb41l4a APN 18 33874201 missense probably damaging 1.00
IGL03051:Epb41l4a APN 18 33874772 missense probably damaging 1.00
PIT1430001:Epb41l4a UTSW 18 33797347 missense probably damaging 1.00
R0147:Epb41l4a UTSW 18 33798800 missense probably damaging 0.98
R0148:Epb41l4a UTSW 18 33798800 missense probably damaging 0.98
R0437:Epb41l4a UTSW 18 33880273 missense probably damaging 1.00
R1511:Epb41l4a UTSW 18 33832664 missense probably benign 0.01
R1666:Epb41l4a UTSW 18 33921909 missense probably damaging 1.00
R1668:Epb41l4a UTSW 18 33921909 missense probably damaging 1.00
R1750:Epb41l4a UTSW 18 33828208 nonsense probably null
R2022:Epb41l4a UTSW 18 33921840 missense probably benign 0.00
R2047:Epb41l4a UTSW 18 33828206 missense probably benign 0.00
R2133:Epb41l4a UTSW 18 33874195 missense probably damaging 1.00
R3741:Epb41l4a UTSW 18 33828102 critical splice donor site probably null
R4393:Epb41l4a UTSW 18 33891420 splice site probably null
R4700:Epb41l4a UTSW 18 33802507 splice site probably null
R4878:Epb41l4a UTSW 18 33798572 missense probably damaging 1.00
R5226:Epb41l4a UTSW 18 33810313 missense probably damaging 1.00
R5284:Epb41l4a UTSW 18 33798800 missense probably damaging 0.98
R5584:Epb41l4a UTSW 18 33854271 missense probably damaging 1.00
R5945:Epb41l4a UTSW 18 33828730 missense possibly damaging 0.89
R6005:Epb41l4a UTSW 18 33828143 missense probably benign
R6038:Epb41l4a UTSW 18 33854335 missense probably benign
R6038:Epb41l4a UTSW 18 33854335 missense probably benign
R6177:Epb41l4a UTSW 18 33798815 splice site probably null
R6188:Epb41l4a UTSW 18 33832665 missense probably benign
R6314:Epb41l4a UTSW 18 33874155 missense probably damaging 1.00
R6552:Epb41l4a UTSW 18 33878979 missense probably damaging 1.00
R7605:Epb41l4a UTSW 18 33797451 missense probably damaging 0.99
R7665:Epb41l4a UTSW 18 34006016 missense possibly damaging 0.92
R7727:Epb41l4a UTSW 18 33854273 missense probably damaging 1.00
R7729:Epb41l4a UTSW 18 33854273 missense probably damaging 1.00
R7802:Epb41l4a UTSW 18 33828174 missense probably benign 0.19
R7857:Epb41l4a UTSW 18 34006045 nonsense probably null
R8281:Epb41l4a UTSW 18 33878945 missense probably damaging 1.00
X0028:Epb41l4a UTSW 18 33802537 missense probably benign 0.23
Posted On2016-08-02