Incidental Mutation 'IGL03051:Epb41l4a'
ID 409044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epb41l4a
Ensembl Gene ENSMUSG00000024376
Gene Name erythrocyte membrane protein band 4.1 like 4a
Synonyms NBL4, Epb4.1l4a
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03051
Quality Score
Status
Chromosome 18
Chromosomal Location 33929380-34140019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34007825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 233 (Y233N)
Ref Sequence ENSEMBL: ENSMUSP00000025234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025234]
AlphaFold P52963
Predicted Effect probably damaging
Transcript: ENSMUST00000025234
AA Change: Y233N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: Y233N

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,964,283 (GRCm39) probably benign Het
Abhd14a A T 9: 106,321,128 (GRCm39) F76I possibly damaging Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Akap13 T A 7: 75,260,233 (GRCm39) C149* probably null Het
Appbp2 A T 11: 85,082,565 (GRCm39) D555E possibly damaging Het
Arhgap25 T C 6: 87,472,896 (GRCm39) Q87R probably null Het
Baz1b T A 5: 135,246,079 (GRCm39) N509K probably benign Het
Ccn4 T A 15: 66,778,399 (GRCm39) C73* probably null Het
Ces5a C A 8: 94,255,226 (GRCm39) G156C probably damaging Het
Chtf18 G A 17: 25,939,938 (GRCm39) R723W probably damaging Het
Clec4e A G 6: 123,266,692 (GRCm39) S6P probably benign Het
Dennd4a A G 9: 64,769,696 (GRCm39) I468V probably damaging Het
Fam210b C T 2: 172,194,612 (GRCm39) H155Y probably benign Het
Frmd4b A T 6: 97,272,943 (GRCm39) C770* probably null Het
Gpa33 A G 1: 165,992,790 (GRCm39) H301R probably benign Het
Gpr39 T A 1: 125,605,485 (GRCm39) C138S probably damaging Het
Gtf2i T A 5: 134,271,768 (GRCm39) K858* probably null Het
Ighv7-1 A T 12: 113,860,576 (GRCm39) probably benign Het
Iglv1 T C 16: 18,903,973 (GRCm39) T49A possibly damaging Het
Kif17 A C 4: 138,016,565 (GRCm39) D416A probably damaging Het
Mib2 T C 4: 155,741,747 (GRCm39) T431A probably damaging Het
Mpz G A 1: 170,986,380 (GRCm39) R98H probably damaging Het
Naa16 T C 14: 79,606,522 (GRCm39) E337G probably benign Het
Odam G A 5: 88,040,335 (GRCm39) probably benign Het
Or1e1f T A 11: 73,855,860 (GRCm39) L142H probably benign Het
Parp2 T C 14: 51,056,805 (GRCm39) probably benign Het
Pcdh7 T G 5: 58,286,415 (GRCm39) S1164A probably damaging Het
Pkp4 G T 2: 59,142,106 (GRCm39) A470S probably benign Het
Plin4 A T 17: 56,412,417 (GRCm39) M538K possibly damaging Het
Prex2 T C 1: 11,212,889 (GRCm39) V624A probably damaging Het
Rps6ka5 A C 12: 100,582,250 (GRCm39) probably null Het
Simc1 T C 13: 54,674,036 (GRCm39) S795P probably benign Het
Slc35b4 A T 6: 34,137,406 (GRCm39) probably null Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Syt14 T C 1: 192,615,528 (GRCm39) N486S probably benign Het
Trim59 T C 3: 68,944,206 (GRCm39) N378S probably benign Het
Wdr17 T A 8: 55,104,349 (GRCm39) D908V probably damaging Het
Wdr74 A G 19: 8,716,875 (GRCm39) 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
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
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
Posted On 2016-08-02