Incidental Mutation 'R3701:Zbed5'
ID 258513
Institutional Source Beutler Lab
Gene Symbol Zbed5
Ensembl Gene ENSMUSG00000034173
Gene Name zinc finger BED-type containing 5
Synonyms 2410018M08Rik, Chchd2l, Zbed5
MMRRC Submission 040694-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3701 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 129924564-129932464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129932000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 650 (D650N)
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: D650N

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044533
Gene: ENSMUSG00000034173
AA Change: D650N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 20 143 4.1e-9 PFAM
Pfam:Pkinase 20 144 3.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202430
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (37/38)
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
Adgrb1 A C 15: 74,416,864 (GRCm39) K757T probably damaging Het
Akr1c19 C T 13: 4,293,032 (GRCm39) R263C probably damaging Het
Asxl1 A G 2: 153,241,264 (GRCm39) T605A probably benign Het
Cacna1i A T 15: 80,265,272 (GRCm39) probably benign Het
Clip4 A G 17: 72,106,003 (GRCm39) D62G probably damaging Het
Cstf1 A G 2: 172,222,312 (GRCm39) T357A probably benign Het
Cul5 T C 9: 53,540,516 (GRCm39) K499E probably damaging Het
Cyld T A 8: 89,456,179 (GRCm39) S407T probably benign Het
Dnph1 G A 17: 46,809,637 (GRCm39) G101S possibly damaging Het
Entrep1 T C 19: 23,956,831 (GRCm39) E354G probably benign Het
Esp38 A T 17: 40,266,112 (GRCm39) R74* probably null Het
Fdxr A T 11: 115,160,527 (GRCm39) L336Q probably damaging Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Itgb1bp2 T C X: 100,495,293 (GRCm39) probably benign Het
Kcnj5 T C 9: 32,229,124 (GRCm39) T25A possibly damaging Het
Lyn A G 4: 3,742,455 (GRCm39) H28R probably benign Het
Nbeal1 C T 1: 60,290,572 (GRCm39) probably benign Het
Nmur2 A G 11: 55,931,603 (GRCm39) L36P probably damaging Het
Or14j3 G A 17: 37,900,717 (GRCm39) Q176* probably null Het
Or6c5c A T 10: 129,298,821 (GRCm39) Y92F probably damaging Het
Or9i14 T G 19: 13,792,712 (GRCm39) I81L probably benign Het
Pdgfra T A 5: 75,340,881 (GRCm39) Y613* probably null Het
Phka2 T C X: 159,316,045 (GRCm39) V230A possibly damaging Het
Pkd2l1 A G 19: 44,145,666 (GRCm39) S186P probably damaging Het
Skic3 T C 13: 76,261,798 (GRCm39) I171T probably benign Het
Snx14 T C 9: 88,302,296 (GRCm39) probably benign Het
Tex15 T C 8: 34,064,194 (GRCm39) V1208A probably benign Het
Tmf1 A G 6: 97,149,292 (GRCm39) F485S possibly damaging Het
Tnfsf4 G A 1: 161,244,778 (GRCm39) V156I possibly damaging Het
Trdn C A 10: 33,210,980 (GRCm39) Q391K probably damaging Het
Ttc34 T C 4: 154,949,939 (GRCm39) F964S probably damaging Het
Vmn2r104 A G 17: 20,249,818 (GRCm39) S818P probably damaging Het
Zfp446 G A 7: 12,712,079 (GRCm39) probably benign Het
Zfp592 C T 7: 80,687,159 (GRCm39) R821* probably null Het
Zfp647 G A 15: 76,795,110 (GRCm39) R517W probably damaging Het
Zfp983 G C 17: 21,880,455 (GRCm39) E128Q probably damaging Het
Other mutations in Zbed5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Zbed5 APN 5 129,930,974 (GRCm39) splice site probably null
IGL03334:Zbed5 APN 5 129,931,196 (GRCm39) missense possibly damaging 0.66
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
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
Predicted Primers PCR Primer
(F):5'- CGCCTTCTTTGAGGAACATG -3'
(R):5'- ACTACACTGCTACATTTCGGG -3'

Sequencing Primer
(F):5'- CGCCTTCTTTGAGGAACATGACATTG -3'
(R):5'- TTCTCACCAGATCAGAAATTCTCGGG -3'
Posted On 2015-01-23