Incidental Mutation 'R3434:Epb41l4b'
ID 266334
Institutional Source Beutler Lab
Gene Symbol Epb41l4b
Ensembl Gene ENSMUSG00000028434
Gene Name erythrocyte membrane protein band 4.1 like 4b
Synonyms Ehm2, 6430543G08Rik, Epb4.1l4b, Lulu2, D4Ertd346e
MMRRC Submission 040652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3434 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 56991972-57143437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57040865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 533 (N533D)
Ref Sequence ENSEMBL: ENSMUSP00000092687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095076]
AlphaFold Q9JMC8
Predicted Effect probably benign
Transcript: ENSMUST00000095076
AA Change: N533D

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434
AA Change: N533D

DomainStartEndE-ValueType
low complexity region 18 57 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
B41 81 277 4.09e-69 SMART
FERM_C 281 373 1.76e-35 SMART
FA 378 422 2.86e-12 SMART
low complexity region 504 513 N/A INTRINSIC
low complexity region 692 704 N/A INTRINSIC
Meta Mutation Damage Score 0.0583 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,508,511 (GRCm39) A1008V probably damaging Het
Adora3 A G 3: 105,812,231 (GRCm39) K39R probably benign Het
Ankib1 A G 5: 3,742,760 (GRCm39) V1085A probably damaging Het
Atp7a G A X: 105,138,463 (GRCm39) R563K probably benign Het
Azin1 T C 15: 38,493,820 (GRCm39) I268V probably benign Het
Carm1 T C 9: 21,480,769 (GRCm39) F81S probably damaging Het
Ccnjl A G 11: 43,470,688 (GRCm39) Y152C probably damaging Het
Chrna3 T A 9: 54,931,610 (GRCm39) I61F possibly damaging Het
Clca3a2 G A 3: 144,514,522 (GRCm39) probably benign Het
Clstn2 T A 9: 97,336,768 (GRCm39) D903V probably benign Het
Dpysl3 C T 18: 43,494,126 (GRCm39) V70I probably benign Het
Drg2 A T 11: 60,352,218 (GRCm39) K180* probably null Het
Dync2h1 A C 9: 7,011,236 (GRCm39) H3659Q probably benign Het
Dysf A T 6: 84,047,870 (GRCm39) Y349F probably benign Het
Fam47e T A 5: 92,733,221 (GRCm39) V152D probably damaging Het
Fasn G A 11: 120,713,599 (GRCm39) A24V probably damaging Het
Fhl4 T C 10: 84,934,308 (GRCm39) T158A probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Hdlbp A T 1: 93,355,883 (GRCm39) M358K probably benign Het
Ift74 A G 4: 94,510,089 (GRCm39) probably null Het
Lhx4 A G 1: 155,578,147 (GRCm39) Y332H probably damaging Het
Mast2 A T 4: 116,165,292 (GRCm39) S1314T probably benign Het
Mast4 A G 13: 102,923,887 (GRCm39) I508T probably damaging Het
Mdn1 T C 4: 32,733,726 (GRCm39) probably null Het
Mrps23 A G 11: 88,100,940 (GRCm39) K44E probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mup6 G T 4: 60,004,116 (GRCm39) probably null Het
Notch3 A T 17: 32,377,592 (GRCm39) D161E possibly damaging Het
Or2ag13 A T 7: 106,472,976 (GRCm39) Y159N probably benign Het
Or4a67 T C 2: 88,598,413 (GRCm39) D82G probably damaging Het
Or5w11 T C 2: 87,459,418 (GRCm39) F204L probably benign Het
P2rx4 T A 5: 122,863,133 (GRCm39) I202K probably damaging Het
Phykpl A G 11: 51,489,482 (GRCm39) T363A probably benign Het
Pitpnm1 G A 19: 4,162,234 (GRCm39) A1047T probably damaging Het
Ppat A G 5: 77,065,912 (GRCm39) I402T probably damaging Het
Rpgr A G X: 10,042,841 (GRCm39) S656P probably benign Het
Rsbn1l T C 5: 21,110,928 (GRCm39) probably benign Het
Sacs A G 14: 61,449,752 (GRCm39) K3933E probably damaging Het
Scn7a T C 2: 66,505,847 (GRCm39) I1681V probably benign Het
Sel1l3 T C 5: 53,274,432 (GRCm39) D1016G probably benign Het
Sf3a3 C A 4: 124,618,870 (GRCm39) T277N possibly damaging Het
Slc35a5 A G 16: 44,964,396 (GRCm39) I279T probably benign Het
Slc39a10 T C 1: 46,874,877 (GRCm39) T142A probably benign Het
Tle3 T A 9: 61,321,376 (GRCm39) probably null Het
Tmem117 T C 15: 94,992,573 (GRCm39) I411T probably damaging Het
Ttn T C 2: 76,698,721 (GRCm39) T5A possibly damaging Het
Tubgcp3 T C 8: 12,708,381 (GRCm39) probably null Het
Ush2a C T 1: 188,465,955 (GRCm39) P2841L probably damaging Het
Vmn1r209 A T 13: 22,990,267 (GRCm39) M141K probably benign Het
Vmn2r91 A T 17: 18,330,370 (GRCm39) probably benign Het
Other mutations in Epb41l4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:Epb41l4b APN 4 57,103,422 (GRCm39) critical splice donor site probably null
IGL02311:Epb41l4b APN 4 57,076,456 (GRCm39) missense probably damaging 1.00
Episode UTSW 4 57,142,866 (GRCm39) missense probably benign 0.00
R0456:Epb41l4b UTSW 4 57,142,843 (GRCm39) splice site probably null
R0799:Epb41l4b UTSW 4 57,086,003 (GRCm39) missense probably damaging 1.00
R0905:Epb41l4b UTSW 4 57,103,528 (GRCm39) missense probably damaging 1.00
R1208:Epb41l4b UTSW 4 57,077,252 (GRCm39) critical splice acceptor site probably null
R1208:Epb41l4b UTSW 4 57,077,252 (GRCm39) critical splice acceptor site probably null
R1506:Epb41l4b UTSW 4 57,088,824 (GRCm39) missense probably damaging 1.00
R1618:Epb41l4b UTSW 4 57,032,204 (GRCm39) missense probably benign 0.00
R1919:Epb41l4b UTSW 4 57,040,993 (GRCm39) missense probably damaging 0.99
R1956:Epb41l4b UTSW 4 57,038,553 (GRCm39) missense possibly damaging 0.94
R2041:Epb41l4b UTSW 4 57,084,070 (GRCm39) missense probably damaging 0.98
R2048:Epb41l4b UTSW 4 57,142,866 (GRCm39) missense probably benign 0.00
R4059:Epb41l4b UTSW 4 57,024,337 (GRCm39) critical splice donor site probably null
R4175:Epb41l4b UTSW 4 57,076,556 (GRCm39) missense probably damaging 1.00
R4694:Epb41l4b UTSW 4 57,019,875 (GRCm39) missense probably benign 0.01
R4817:Epb41l4b UTSW 4 57,103,428 (GRCm39) missense probably damaging 1.00
R5076:Epb41l4b UTSW 4 57,040,984 (GRCm39) missense probably damaging 1.00
R5179:Epb41l4b UTSW 4 57,063,181 (GRCm39) missense probably benign 0.01
R5246:Epb41l4b UTSW 4 57,040,989 (GRCm39) missense probably damaging 0.99
R5530:Epb41l4b UTSW 4 57,086,003 (GRCm39) missense probably damaging 1.00
R5579:Epb41l4b UTSW 4 57,064,802 (GRCm39) missense possibly damaging 0.62
R5784:Epb41l4b UTSW 4 57,086,003 (GRCm39) missense probably damaging 1.00
R6772:Epb41l4b UTSW 4 57,063,140 (GRCm39) missense probably benign
R6965:Epb41l4b UTSW 4 57,040,915 (GRCm39) missense probably damaging 1.00
R7045:Epb41l4b UTSW 4 57,103,522 (GRCm39) missense possibly damaging 0.94
R7316:Epb41l4b UTSW 4 57,019,867 (GRCm39) missense probably benign 0.01
R7750:Epb41l4b UTSW 4 57,076,913 (GRCm39) critical splice donor site probably null
R7954:Epb41l4b UTSW 4 57,088,034 (GRCm39) missense probably damaging 1.00
R9032:Epb41l4b UTSW 4 57,041,064 (GRCm39) splice site probably null
R9085:Epb41l4b UTSW 4 57,041,064 (GRCm39) splice site probably null
R9130:Epb41l4b UTSW 4 57,103,447 (GRCm39) missense possibly damaging 0.82
R9386:Epb41l4b UTSW 4 57,076,553 (GRCm39) missense probably damaging 1.00
Z1177:Epb41l4b UTSW 4 57,063,191 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGACTGGCCATTTATAACATGGAAG -3'
(R):5'- GACTTTGTTGCCTGCCTCAG -3'

Sequencing Primer
(F):5'- GCAGGAAACCACTGAGTCTAGATC -3'
(R):5'- GTTGCCTGCCTCAGCTACC -3'
Posted On 2015-02-18