Incidental Mutation 'R4393:Epb41l4a'
ID 326501
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 041128-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4393 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 33929380-34140019 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 34024473 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 0.9755 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 95% (71/75)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik C A 9: 3,134,944 (GRCm39) noncoding transcript Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Adgrl1 T C 8: 84,665,222 (GRCm39) V1353A probably benign Het
Cep68 A T 11: 20,188,544 (GRCm39) N620K probably benign Het
Clcnkb A G 4: 141,139,547 (GRCm39) S152P probably benign Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Cyp26c1 G A 19: 37,675,105 (GRCm39) R142H probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg5 T A 14: 24,228,057 (GRCm39) probably null Het
Dnai7 T C 6: 145,140,304 (GRCm39) T166A possibly damaging Het
Ebf3 C T 7: 136,826,886 (GRCm39) R342H probably damaging Het
Ece2 T C 16: 20,451,598 (GRCm39) V380A probably damaging Het
Erbb3 G T 10: 128,408,639 (GRCm39) Q815K probably damaging Het
Ercc3 T A 18: 32,398,674 (GRCm39) M651K probably benign Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Foxp2 A C 6: 15,377,689 (GRCm39) probably benign Het
Gdf10 T C 14: 33,654,695 (GRCm39) Y401H probably damaging Het
Gm21738 G C 14: 19,417,178 (GRCm38) L117V probably benign Het
Gm6408 A T 5: 146,419,147 (GRCm39) D54V probably damaging Het
H2-T5 C A 17: 36,472,861 (GRCm39) probably benign Het
Hcn4 A G 9: 58,751,583 (GRCm39) E403G unknown Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Il11ra1 T C 4: 41,768,577 (GRCm39) probably null Het
Immt T A 6: 71,849,784 (GRCm39) S435T probably benign Het
Kcnip2 A G 19: 45,800,669 (GRCm39) L19P probably benign Het
Kctd2 T C 11: 115,320,326 (GRCm39) probably benign Het
Mdga1 T C 17: 30,069,491 (GRCm39) D185G probably damaging Het
Mdn1 C T 4: 32,754,482 (GRCm39) T4666M possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Msl2 A G 9: 100,978,676 (GRCm39) E350G probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo3a A T 2: 22,467,866 (GRCm39) K373N probably damaging Het
Nr5a1 T C 2: 38,584,231 (GRCm39) E396G probably damaging Het
Ogdh G A 11: 6,266,772 (GRCm39) G141D probably damaging Het
Or10q1b T C 19: 13,682,554 (GRCm39) I121T possibly damaging Het
Or2h2c T C 17: 37,424,971 (GRCm39) probably benign Het
Or5w1b A T 2: 87,476,256 (GRCm39) C70* probably null Het
Orc2 C A 1: 58,506,809 (GRCm39) probably null Het
P4ha3 C T 7: 99,954,814 (GRCm39) P291S probably benign Het
Pign T C 1: 105,449,751 (GRCm39) K925R probably benign Het
Plekhm1 A G 11: 103,267,791 (GRCm39) S727P possibly damaging Het
Prr36 G T 8: 4,264,901 (GRCm39) probably benign Het
Prrt3 A G 6: 113,471,907 (GRCm39) L755P probably benign Het
Secisbp2 A G 13: 51,808,502 (GRCm39) H89R probably damaging Het
Sgms2 A T 3: 131,135,466 (GRCm39) probably null Het
Slc35d3 T C 10: 19,725,352 (GRCm39) probably null Het
Slu7 T A 11: 43,330,096 (GRCm39) N174K possibly damaging Het
Teddm1a G T 1: 153,768,192 (GRCm39) D219Y probably damaging Het
Tgtp1 C A 11: 48,878,450 (GRCm39) G85V probably damaging Het
Tmem51 T C 4: 141,759,242 (GRCm39) T169A probably benign Het
Tmem69 C T 4: 116,411,964 (GRCm39) probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Vwa3b T C 1: 37,084,259 (GRCm39) V144A probably damaging Het
Zdhhc21 A G 4: 82,765,891 (GRCm39) C15R possibly damaging Het
Zfp142 T C 1: 74,611,219 (GRCm39) T756A probably benign Het
Zfp606 C T 7: 12,226,776 (GRCm39) S241F probably damaging Het
Zfp804a A T 2: 82,087,265 (GRCm39) T365S 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
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
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'- CTACAGCAATGAGACTGGCTGAG -3'
(R):5'- AGCCACAGAGCACTCCTTAG -3'

Sequencing Primer
(F):5'- GAGTGTCTGATTCAATTAAGCCCACC -3'
(R):5'- CAGAGCACTCCTTAGCGTGTTTG -3'
Posted On 2015-07-06