Incidental Mutation 'R6188:Epb41l4a'
ID 502345
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 044328-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6188 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 33929380-34140019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33965718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 370 (I370L)
Ref Sequence ENSEMBL: ENSMUSP00000025234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025234]
AlphaFold P52963
Predicted Effect probably benign
Transcript: ENSMUST00000025234
AA Change: I370L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: I370L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (61/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,331,850 (GRCm39) I88F possibly damaging Het
4930407I10Rik T C 15: 81,943,471 (GRCm39) S28P probably benign Het
a A T 2: 154,889,602 (GRCm39) N56I probably damaging Het
Apoe C A 7: 19,432,305 (GRCm39) probably benign Het
Aspm C A 1: 139,406,977 (GRCm39) R1955S possibly damaging Het
Boc G A 16: 44,319,911 (GRCm39) L358F possibly damaging Het
Cadm2 A T 16: 66,612,195 (GRCm39) probably null Het
Ccdc183 T C 2: 25,499,764 (GRCm39) E384G probably benign Het
Ccl12 A G 11: 81,993,943 (GRCm39) T67A probably damaging Het
Cep120 T C 18: 53,857,529 (GRCm39) D312G probably benign Het
Cmya5 A G 13: 93,229,952 (GRCm39) V1712A possibly damaging Het
Cmya5 A G 13: 93,233,784 (GRCm39) S435P possibly damaging Het
Dmbt1 A T 7: 130,699,361 (GRCm39) N997Y probably damaging Het
Dock2 T A 11: 34,453,396 (GRCm39) I86F probably damaging Het
Duox1 A G 2: 122,150,275 (GRCm39) Q168R probably benign Het
Erc2 T A 14: 28,039,208 (GRCm39) D950E probably damaging Het
Exoc6b A G 6: 84,832,479 (GRCm39) V405A probably damaging Het
F13a1 T C 13: 37,209,752 (GRCm39) D71G probably benign Het
Fam151a A T 4: 106,602,696 (GRCm39) Y205F possibly damaging Het
Fcnb C A 2: 27,969,202 (GRCm39) R165M possibly damaging Het
Fndc3a C T 14: 72,827,401 (GRCm39) V50I probably damaging Het
Gm13276 C T 4: 88,704,096 (GRCm39) Q51* probably null Het
Grik1 T C 16: 87,852,959 (GRCm39) T75A probably benign Het
Grip2 A G 6: 91,740,514 (GRCm39) L1015P probably damaging Het
Hnrnpk A G 13: 58,541,967 (GRCm39) F339L probably benign Het
Iqgap3 A G 3: 88,006,200 (GRCm39) D537G probably benign Het
Kars1 C T 8: 112,735,113 (GRCm39) probably null Het
Kpna7 G T 5: 144,929,654 (GRCm39) N390K probably damaging Het
Krt36 A T 11: 99,993,246 (GRCm39) S410T probably benign Het
Lingo4 A G 3: 94,310,157 (GRCm39) E365G probably damaging Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Lmbrd1 C A 1: 24,750,626 (GRCm39) N166K probably benign Het
Lypd9 T C 11: 58,337,182 (GRCm39) E97G probably benign Het
Nup155 T C 15: 8,139,059 (GRCm39) S44P probably damaging Het
Or2m12 A G 16: 19,105,307 (GRCm39) M62T probably damaging Het
Or4a72 A T 2: 89,405,538 (GRCm39) C177* probably null Het
Or5a3 A G 19: 12,399,974 (GRCm39) I100M probably benign Het
Pcdhga6 T C 18: 37,841,324 (GRCm39) V348A probably benign Het
Phc3 G A 3: 30,991,198 (GRCm39) Q295* probably null Het
Phyh A G 2: 4,932,301 (GRCm39) E129G probably damaging Het
Polb A G 8: 23,137,463 (GRCm39) S96P probably damaging Het
Ppp1r9a A T 6: 5,158,113 (GRCm39) K1174* probably null Het
Ppp1r9b C T 11: 94,882,662 (GRCm39) R97W probably damaging Het
Pttg1ip T C 10: 77,418,342 (GRCm39) probably null Het
Pygm G A 19: 6,447,967 (GRCm39) probably null Het
Rgs20 GGAGAGAG GGAGAG 1: 5,091,106 (GRCm39) probably null Het
Rlf T C 4: 121,027,963 (GRCm39) H111R probably damaging Het
Rmdn3 A G 2: 118,969,831 (GRCm39) probably null Het
Ror2 T A 13: 53,265,347 (GRCm39) T570S probably damaging Het
Sel1l3 A C 5: 53,313,061 (GRCm39) I542R possibly damaging Het
Serpinb3d A G 1: 107,006,237 (GRCm39) F284L probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc38a2 A G 15: 96,590,397 (GRCm39) probably null Het
Spata31e2 T A 1: 26,724,784 (GRCm39) Y132F probably damaging Het
Spata31h1 A G 10: 82,121,091 (GRCm39) I3973T probably damaging Het
Tet2 T C 3: 133,186,087 (GRCm39) S1117G probably benign Het
Trav15-1-dv6-1 C T 14: 53,797,414 (GRCm39) A21V probably damaging Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn1r220 A T 13: 23,368,084 (GRCm39) L204H probably damaging Het
Vmn1r3 A T 4: 3,185,017 (GRCm39) S97T probably damaging Het
Zfp599 A G 9: 22,161,286 (GRCm39) F293S probably damaging Het
Zfp983 A G 17: 21,877,935 (GRCm39) Y46C probably damaging 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
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'- AGCCCCTAGTTTAAAGTGCTAATC -3'
(R):5'- ATTTATGGAGACTAGGGACTTGGAG -3'

Sequencing Primer
(F):5'- AGTGCTAATCAATTTACCAAAGGG -3'
(R):5'- CACAAATACCTGCCATTACGTTTGG -3'
Posted On 2018-02-27