Incidental Mutation 'R6314:Epb41l4a'
ID 509967
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 044471-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6314 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 33929380-34140019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34007208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 261 (V261A)
Ref Sequence ENSEMBL: ENSMUSP00000025234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025234]
AlphaFold P52963
Predicted Effect probably damaging
Transcript: ENSMUST00000025234
AA Change: V261A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: V261A

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 0.4136 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik A C 5: 146,441,702 (GRCm39) E283A possibly damaging Het
Aadacl2 A T 3: 59,924,824 (GRCm39) R130S probably damaging Het
Adam22 A T 5: 8,177,365 (GRCm39) C581* probably null Het
Adss2 T A 1: 177,595,334 (GRCm39) Y402F probably damaging Het
Agfg1 A T 1: 82,836,155 (GRCm39) Q13H probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Armc8 A G 9: 99,417,937 (GRCm39) S74P probably benign Het
Atn1 A T 6: 124,724,013 (GRCm39) probably benign Het
Ddx5 T C 11: 106,679,347 (GRCm39) probably benign Het
Depdc1a T A 3: 159,204,051 (GRCm39) H33Q probably damaging Het
Dnmt3l A T 10: 77,895,521 (GRCm39) Y58F probably benign Het
Efemp1 C T 11: 28,864,603 (GRCm39) T219I probably benign Het
Enpp2 T C 15: 54,729,366 (GRCm39) N436D probably damaging Het
Erap1 A T 13: 74,822,894 (GRCm39) K802N probably damaging Het
Fads2b T C 2: 85,332,520 (GRCm39) N168S probably benign Het
Fcrl6 T A 1: 172,426,186 (GRCm39) probably null Het
Fv1 A T 4: 147,954,156 (GRCm39) probably null Het
Gdpd4 T A 7: 97,623,160 (GRCm39) M257K probably damaging Het
Gorab T C 1: 163,224,658 (GRCm39) S48G probably damaging Het
Gxylt2 A T 6: 100,775,164 (GRCm39) H361L probably damaging Het
Hk1 A G 10: 62,128,223 (GRCm39) Y300H possibly damaging Het
Hk3 T C 13: 55,161,393 (GRCm39) R156G probably benign Het
Hook3 T A 8: 26,578,136 (GRCm39) M118L probably benign Het
Lmnb2 G A 10: 80,745,804 (GRCm39) R92C probably damaging Het
Lsr A G 7: 30,658,024 (GRCm39) L380P probably damaging Het
Mettl16 A T 11: 74,686,832 (GRCm39) R204* probably null Het
Or5h18 A T 16: 58,847,820 (GRCm39) I150K probably benign Het
Or7a37 A G 10: 78,806,179 (GRCm39) H232R probably benign Het
Or7e173 C A 9: 19,938,958 (GRCm39) S92I probably damaging Het
Orc3 C A 4: 34,579,797 (GRCm39) G494C possibly damaging Het
Pcare T G 17: 72,059,452 (GRCm39) Q75P probably benign Het
Pip5k1a G T 3: 94,975,432 (GRCm39) T346K probably damaging Het
Pitx1 A T 13: 55,974,166 (GRCm39) S222T possibly damaging Het
Pm20d1 T C 1: 131,743,754 (GRCm39) V473A possibly damaging Het
Pnpla6 C T 8: 3,571,572 (GRCm39) L168F probably benign Het
Pramel13 T C 4: 144,121,157 (GRCm39) D289G probably damaging Het
Reln C A 5: 22,357,482 (GRCm39) E195* probably null Het
S100a7l2 A T 3: 90,995,683 (GRCm39) V73E possibly damaging Het
Sec24b A T 3: 129,800,894 (GRCm39) probably null Het
Selenbp1 A G 3: 94,844,576 (GRCm39) N78D probably damaging Het
Serpina1d T A 12: 103,730,959 (GRCm39) T340S probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Snap29 T C 16: 17,237,183 (GRCm39) M98T probably benign Het
Son G T 16: 91,457,298 (GRCm39) probably benign Het
Spef1l A C 7: 139,556,402 (GRCm39) L195R possibly damaging Het
Tgfbi A T 13: 56,773,976 (GRCm39) T252S probably benign Het
Thsd7a T C 6: 12,554,996 (GRCm39) N296S possibly damaging Het
Tmem225 C G 9: 40,062,016 (GRCm39) T210S probably benign Het
Tmem245 A T 4: 56,888,592 (GRCm39) V778D possibly damaging Het
Tor4a T C 2: 25,084,794 (GRCm39) R370G possibly damaging Het
Tubgcp3 T C 8: 12,698,625 (GRCm39) H442R probably benign Het
Vmn1r20 A T 6: 57,409,042 (GRCm39) M123L probably benign Het
Zfp622 T C 15: 25,987,067 (GRCm39) V273A probably benign Het
Zhx1 C T 15: 57,917,398 (GRCm39) V283I 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
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
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'- TCCTCTGCCTGGAAAGGTTTG -3'
(R):5'- TCCTCCACAGTATAAAGGAGCC -3'

Sequencing Primer
(F):5'- TCTTCTGCGAAAAGTGAAATGACACC -3'
(R):5'- GTATAAAGGAGCCTGCACTTCTC -3'
Posted On 2018-04-02