Incidental Mutation 'IGL02942:Epb41l4a'
ID 364533
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 # IGL02942
Quality Score
Status
Chromosome 18
Chromosomal Location 33929380-34140019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34007254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 246 (R246W)
Ref Sequence ENSEMBL: ENSMUSP00000025234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025234]
AlphaFold P52963
Predicted Effect probably damaging
Transcript: ENSMUST00000025234
AA Change: R246W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: R246W

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
Abcd2 A C 15: 91,033,378 (GRCm39) D679E probably damaging Het
Adh6a A T 3: 138,030,642 (GRCm39) D88V probably damaging Het
Ank3 G A 10: 69,809,707 (GRCm39) V1123I probably damaging Het
Apba1 T C 19: 23,922,335 (GRCm39) V801A possibly damaging Het
Bcl2a1a C T 9: 88,839,095 (GRCm39) probably benign Het
Brd8 A G 18: 34,743,680 (GRCm39) V215A possibly damaging Het
Cdk17 G A 10: 93,074,830 (GRCm39) V454I probably benign Het
Chd5 G A 4: 152,470,182 (GRCm39) G1876D probably damaging Het
Clec4g T C 8: 3,768,356 (GRCm39) E125G probably damaging Het
Col24a1 G A 3: 145,247,420 (GRCm39) G1602D probably damaging Het
Depdc7 A C 2: 104,558,439 (GRCm39) L194R probably damaging Het
Dgke T G 11: 88,946,195 (GRCm39) N202H probably benign Het
Dkk2 T A 3: 131,883,798 (GRCm39) C233S probably damaging Het
Dmpk A C 7: 18,826,166 (GRCm39) D542A probably damaging Het
Frmpd1 A T 4: 45,285,493 (GRCm39) Q1438L probably damaging Het
Gcgr A G 11: 120,427,643 (GRCm39) probably null Het
Gm10295 T C 7: 71,000,250 (GRCm39) K110R unknown Het
Ifrd1 A G 12: 40,267,375 (GRCm39) probably null Het
Inpp5f A G 7: 128,296,624 (GRCm39) T365A probably benign Het
Kcnn3 A G 3: 89,559,383 (GRCm39) K551R probably benign Het
Lama2 A T 10: 26,917,216 (GRCm39) N2236K probably damaging Het
Larp7 A T 3: 127,337,844 (GRCm39) I405N possibly damaging Het
Meltf C A 16: 31,709,596 (GRCm39) Y432* probably null Het
Mst1r C A 9: 107,790,352 (GRCm39) T655K possibly damaging Het
Myh1 C T 11: 67,093,308 (GRCm39) P133L probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or52r1c A T 7: 102,735,405 (GRCm39) M222L probably benign Het
Or5b102 A T 19: 13,041,552 (GRCm39) Q259L probably benign Het
Or6a2 A G 7: 106,600,561 (GRCm39) S169P possibly damaging Het
Pfkl A T 10: 77,835,967 (GRCm39) probably null Het
Plekhb2 T C 1: 34,916,073 (GRCm39) M204T probably damaging Het
Ptp4a2 G A 4: 129,738,986 (GRCm39) probably null Het
Rtp4 A G 16: 23,431,704 (GRCm39) T79A probably benign Het
Senp3 T C 11: 69,568,815 (GRCm39) D410G probably benign Het
Slc16a5 T C 11: 115,360,176 (GRCm39) F120L possibly damaging Het
Snrpe T C 1: 133,536,669 (GRCm39) E37G probably damaging Het
Sorcs1 T C 19: 50,463,875 (GRCm39) T192A probably damaging Het
Spef2 T A 15: 9,668,960 (GRCm39) H742L possibly damaging Het
Syt12 T C 19: 4,497,858 (GRCm39) S375G probably benign Het
Tas2r117 T C 6: 132,780,657 (GRCm39) L265P probably benign Het
Tcp10a T A 17: 7,597,318 (GRCm39) D158E probably damaging Het
Tesk2 A T 4: 116,629,017 (GRCm39) H122L probably damaging Het
Tut7 T G 13: 59,959,335 (GRCm39) N378H probably damaging Het
Unc93b1 T A 19: 3,998,686 (GRCm39) M535K probably damaging Het
Vangl1 C A 3: 102,091,347 (GRCm39) R246S probably damaging Het
Xpo5 C T 17: 46,519,059 (GRCm39) T166I probably damaging Het
Zmiz2 T C 11: 6,349,500 (GRCm39) probably benign Het
Other mutations in Epb41l4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Epb41l4a APN 18 33,934,678 (GRCm39) missense possibly damaging 0.95
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 2015-12-18