Incidental Mutation 'IGL03334:Zbed5'
ID 416955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbed5
Ensembl Gene ENSMUSG00000034173
Gene Name zinc finger BED-type containing 5
Synonyms 2410018M08Rik, Chchd2l, Zbed5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03334
Quality Score
Chromosome 5
Chromosomal Location 129924564-129932464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129931196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 382 (F382I)
Ref Sequence ENSEMBL: ENSMUSP00000044533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041466] [ENSMUST00000077320] [ENSMUST00000140667]
AlphaFold B2RPU8
Predicted Effect possibly damaging
Transcript: ENSMUST00000041466
AA Change: F382I

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044533
Gene: ENSMUSG00000034173
AA Change: F382I

low complexity region 16 51 N/A INTRINSIC
low complexity region 60 75 N/A INTRINSIC
Pfam:DUF4371 281 412 1.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077320
SMART Domains Protein: ENSMUSP00000116455
Gene: ENSMUSG00000034173

low complexity region 2 30 N/A INTRINSIC
low complexity region 39 54 N/A INTRINSIC
Pfam:CHCH 95 128 2.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140667
SMART Domains Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537

Pfam:Pkinase_Tyr 20 143 4.1e-9 PFAM
Pfam:Pkinase 20 144 3.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202430
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,302 (GRCm39) F762L probably benign Het
Angpt1 T A 15: 42,359,808 (GRCm39) E208V possibly damaging Het
Arhgef18 A T 8: 3,438,023 (GRCm39) I286F probably benign Het
Arhgef5 T C 6: 43,250,934 (GRCm39) S562P possibly damaging Het
Asb6 T C 2: 30,714,496 (GRCm39) T205A probably benign Het
B4galnt4 G A 7: 140,647,354 (GRCm39) probably null Het
Clca4a A T 3: 144,659,627 (GRCm39) M743K probably benign Het
Col14a1 T C 15: 55,312,217 (GRCm39) probably benign Het
Col27a1 A T 4: 63,232,959 (GRCm39) Y359F probably damaging Het
Dhcr7 T A 7: 143,394,234 (GRCm39) V125D possibly damaging Het
Ercc3 T C 18: 32,373,890 (GRCm39) probably null Het
Fnbp1l A G 3: 122,351,598 (GRCm39) V315A probably benign Het
Gm17174 T A 14: 51,829,420 (GRCm39) R48* probably null Het
Golga4 C T 9: 118,366,301 (GRCm39) probably benign Het
Grin1 C T 2: 25,188,405 (GRCm39) probably null Het
Ifi203 T A 1: 173,765,401 (GRCm39) K58* probably null Het
Ighv2-9-1 A G 12: 113,733,543 (GRCm39) S93P probably benign Het
Il27ra A G 8: 84,757,751 (GRCm39) V594A probably benign Het
Krr1 T G 10: 111,815,959 (GRCm39) S275R probably benign Het
Lars1 T C 18: 42,354,571 (GRCm39) D792G probably benign Het
Myo1f G A 17: 33,817,168 (GRCm39) R737H probably damaging Het
Nebl T A 2: 17,418,522 (GRCm39) H292L probably damaging Het
Nell1 C A 7: 49,712,359 (GRCm39) probably null Het
Nktr T C 9: 121,577,242 (GRCm39) F412L probably benign Het
Nlrp3 T A 11: 59,439,842 (GRCm39) I473N probably damaging Het
Or1j10 T C 2: 36,267,063 (GRCm39) Y92H possibly damaging Het
Phf3 A G 1: 30,844,810 (GRCm39) V1383A probably damaging Het
Prss48 T C 3: 85,904,625 (GRCm39) E191G probably damaging Het
Psg25 T A 7: 18,263,699 (GRCm39) L41F probably benign Het
Sema3b A G 9: 107,481,276 (GRCm39) L78P probably damaging Het
Spen G T 4: 141,197,280 (GRCm39) N3496K probably damaging Het
Tbk1 A T 10: 121,420,104 (GRCm39) H28Q possibly damaging Het
Trpv3 T A 11: 73,172,491 (GRCm39) probably benign Het
Vmn1r218 T C 13: 23,320,788 (GRCm39) L45P probably damaging Het
Vmn2r35 T A 7: 7,789,493 (GRCm39) Y748F probably damaging Het
Vps18 C T 2: 119,127,963 (GRCm39) R929W probably damaging Het
Xpnpep1 T C 19: 52,998,577 (GRCm39) K224E probably damaging Het
Other mutations in Zbed5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Zbed5 APN 5 129,930,974 (GRCm39) splice site probably null
R0449:Zbed5 UTSW 5 129,930,567 (GRCm39) missense probably damaging 1.00
R0744:Zbed5 UTSW 5 129,931,113 (GRCm39) missense possibly damaging 0.92
R0763:Zbed5 UTSW 5 129,931,020 (GRCm39) missense probably benign 0.00
R1967:Zbed5 UTSW 5 129,930,510 (GRCm39) missense possibly damaging 0.68
R2246:Zbed5 UTSW 5 129,931,592 (GRCm39) missense probably benign 0.01
R2925:Zbed5 UTSW 5 129,932,039 (GRCm39) missense possibly damaging 0.66
R3053:Zbed5 UTSW 5 129,930,987 (GRCm39) missense possibly damaging 0.66
R3701:Zbed5 UTSW 5 129,932,000 (GRCm39) missense possibly damaging 0.90
R3702:Zbed5 UTSW 5 129,932,000 (GRCm39) missense possibly damaging 0.90
R3916:Zbed5 UTSW 5 129,931,118 (GRCm39) missense possibly damaging 0.92
R3917:Zbed5 UTSW 5 129,931,118 (GRCm39) missense possibly damaging 0.92
R4547:Zbed5 UTSW 5 129,931,692 (GRCm39) nonsense probably null
R4548:Zbed5 UTSW 5 129,931,692 (GRCm39) nonsense probably null
R5195:Zbed5 UTSW 5 129,931,019 (GRCm39) missense probably benign 0.01
R5500:Zbed5 UTSW 5 129,930,823 (GRCm39) nonsense probably null
R5813:Zbed5 UTSW 5 129,931,059 (GRCm39) missense possibly damaging 0.46
R6377:Zbed5 UTSW 5 129,932,210 (GRCm39) missense possibly damaging 0.83
R6620:Zbed5 UTSW 5 129,932,130 (GRCm39) missense possibly damaging 0.82
R6862:Zbed5 UTSW 5 129,932,026 (GRCm39) missense probably benign
R6931:Zbed5 UTSW 5 129,932,170 (GRCm39) nonsense probably null
R7223:Zbed5 UTSW 5 129,929,279 (GRCm39) missense probably damaging 1.00
R7831:Zbed5 UTSW 5 129,930,798 (GRCm39) missense possibly damaging 0.82
R7918:Zbed5 UTSW 5 129,930,504 (GRCm39) missense possibly damaging 0.46
R7982:Zbed5 UTSW 5 129,929,321 (GRCm39) missense possibly damaging 0.79
Posted On 2016-08-02