Incidental Mutation 'IGL02141:Epb41l4b'
ID 281578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epb41l4b
Ensembl Gene ENSMUSG00000028434
Gene Name erythrocyte membrane protein band 4.1 like 4b
Synonyms Ehm2, 6430543G08Rik, Epb4.1l4b, Lulu2, D4Ertd346e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02141
Quality Score
Status
Chromosome 4
Chromosomal Location 56991972-57143437 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 57103422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000092687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030142] [ENSMUST00000095076]
AlphaFold Q9JMC8
Predicted Effect probably null
Transcript: ENSMUST00000030142
SMART Domains Protein: ENSMUSP00000030142
Gene: ENSMUSG00000028434

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
Predicted Effect probably null
Transcript: ENSMUST00000095076
SMART Domains Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149109
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R probably damaging Het
Other mutations in Epb41l4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3434:Epb41l4b UTSW 4 57,040,865 (GRCm39) missense probably benign 0.41
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
Posted On 2015-04-16