Incidental Mutation 'IGL01391:Epb41l4a'
ID 79202
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 # IGL01391
Quality Score
Status
Chromosome 18
Chromosomal Location 33929380-34140019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 33934678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 562 (D562A)
Ref Sequence ENSEMBL: ENSMUSP00000025234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025234]
AlphaFold P52963
Predicted Effect possibly damaging
Transcript: ENSMUST00000025234
AA Change: D562A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: D562A

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 T A 8: 23,289,663 (GRCm39) I147F probably benign Het
Areg T A 5: 91,288,954 (GRCm39) S87T probably damaging Het
Arid1b T A 17: 5,369,133 (GRCm39) probably benign Het
Arl6ip6 A G 2: 53,082,156 (GRCm39) R8G probably benign Het
Brms1 A G 19: 5,096,723 (GRCm39) E135G possibly damaging Het
Ccser1 A G 6: 61,615,505 (GRCm39) probably benign Het
Dock3 A T 9: 106,784,433 (GRCm39) M258K possibly damaging Het
Etaa1 G A 11: 17,896,005 (GRCm39) T704I probably damaging Het
Fer1l4 T A 2: 155,878,376 (GRCm39) H972L probably damaging Het
Foxn1 A G 11: 78,252,320 (GRCm39) M356T probably damaging Het
Gfral C A 9: 76,072,107 (GRCm39) G388* probably null Het
Gm12258 A G 11: 58,739,520 (GRCm39) T3A probably benign Het
Hoxa5 T C 6: 52,181,311 (GRCm39) N7S probably damaging Het
Itgb4 T C 11: 115,881,746 (GRCm39) L765P probably damaging Het
Jchain C T 5: 88,669,383 (GRCm39) C90Y probably damaging Het
Klhl40 A G 9: 121,607,983 (GRCm39) Y381C probably damaging Het
Lhx6 A T 2: 35,993,477 (GRCm39) C74S probably benign Het
Magel2 A G 7: 62,030,632 (GRCm39) S1179G unknown Het
Mapre3 T C 5: 31,022,241 (GRCm39) I236T probably damaging Het
Mcf2l A T 8: 13,064,010 (GRCm39) probably null Het
Med13 A T 11: 86,219,323 (GRCm39) H374Q probably benign Het
Meioc A G 11: 102,565,113 (GRCm39) Y187C probably benign Het
Myh1 G A 11: 67,108,689 (GRCm39) M1368I probably benign Het
Or14a258 A T 7: 86,035,208 (GRCm39) I220N possibly damaging Het
Or8b54 A G 9: 38,686,826 (GRCm39) I92V probably damaging Het
Phrf1 T C 7: 140,842,394 (GRCm39) Y1501H probably damaging Het
Pigb T C 9: 72,929,573 (GRCm39) T337A probably damaging Het
Pls1 T C 9: 95,655,751 (GRCm39) K334E probably benign Het
Pramel51 C T 12: 88,145,225 (GRCm39) V34I possibly damaging Het
Rab3b T C 4: 108,797,999 (GRCm39) C226R probably damaging Het
Ryr2 A T 13: 11,571,571 (GRCm39) I4889N possibly damaging Het
Serpinb1a G A 13: 33,029,398 (GRCm39) S210L probably benign Het
Slc52a3 A G 2: 151,849,522 (GRCm39) I390V probably benign Het
Slc6a7 C A 18: 61,136,382 (GRCm39) A340S probably damaging Het
Tcaf3 T C 6: 42,570,615 (GRCm39) Y379C probably damaging Het
Tex261 A G 6: 83,748,222 (GRCm39) V180A probably benign Het
Tnnt1 C T 7: 4,517,211 (GRCm39) probably null Het
Ttn T C 2: 76,798,847 (GRCm39) T476A possibly damaging Het
Vcan A G 13: 89,852,288 (GRCm39) S891P probably benign Het
Vmn2r16 T A 5: 109,511,627 (GRCm39) D611E possibly damaging Het
Vmn2r68 T C 7: 84,886,819 (GRCm39) T32A probably benign Het
Vwde T G 6: 13,190,526 (GRCm39) S522R probably benign Het
Wdr3 G A 3: 100,054,105 (GRCm39) probably benign Het
Wfs1 G T 5: 37,128,907 (GRCm39) Q288K probably benign Het
Zfp142 A G 1: 74,618,699 (GRCm39) V120A probably damaging Het
Zfp672 A G 11: 58,208,192 (GRCm39) F43S probably damaging Het
Znhit3 A T 11: 84,802,283 (GRCm39) probably benign Het
Other mutations in Epb41l4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-05