Incidental Mutation 'R2925:Zbed5'
ID 255702
Institutional Source Beutler Lab
Gene Symbol Zbed5
Ensembl Gene ENSMUSG00000034173
Gene Name zinc finger BED-type containing 5
Synonyms 2410018M08Rik, Chchd2l, Zbed5
MMRRC Submission 040510-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2925 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 129924564-129932464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129932039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 663 (T663A)
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: T663A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044533
Gene: ENSMUSG00000034173
AA Change: T663A

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: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 95% (40/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,407,755 (GRCm39) T93A probably damaging Het
Acte1 A T 7: 143,437,736 (GRCm39) R147* probably null Het
Akr1c21 A G 13: 4,626,349 (GRCm39) probably null Het
Alk A G 17: 72,910,202 (GRCm39) V168A probably benign Het
Ap4b1 A G 3: 103,727,997 (GRCm39) E337G probably damaging Het
Bltp1 G T 3: 37,061,271 (GRCm39) A3327S probably damaging Het
Btn2a2 A G 13: 23,665,984 (GRCm39) S283P probably damaging Het
Ctcfl C T 2: 172,936,489 (GRCm39) E628K probably damaging Het
Cul9 G A 17: 46,821,907 (GRCm39) T1856M probably benign Het
Defb41 T C 1: 18,330,857 (GRCm39) D30G probably damaging Het
Dnai1 A T 4: 41,597,919 (GRCm39) I74F probably damaging Het
Ecpas T A 4: 58,833,928 (GRCm39) K851* probably null Het
Fbln2 T A 6: 91,242,837 (GRCm39) C846S probably damaging Het
Fuom T C 7: 139,679,862 (GRCm39) T110A probably benign Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Il12a TCAC TC 3: 68,605,320 (GRCm39) probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lyz3 C T 10: 117,070,336 (GRCm39) R147Q probably benign Het
Man2b2 A G 5: 36,981,446 (GRCm39) F224L probably benign Het
Mtbp G A 15: 55,483,210 (GRCm39) R429Q probably benign Het
Ncapg2 C A 12: 116,402,349 (GRCm39) T727K probably benign Het
Nek4 G A 14: 30,673,667 (GRCm39) G29S probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup214 A G 2: 31,888,015 (GRCm39) K15E probably damaging Het
Or5ac24 A T 16: 59,165,706 (GRCm39) Y119* probably null Het
Or5m11b T A 2: 85,806,125 (GRCm39) C179* probably null Het
Or8k32 C T 2: 86,368,891 (GRCm39) D121N probably damaging Het
Or9a4 T A 6: 40,548,342 (GRCm39) S7R probably benign Het
P2ry13 G A 3: 59,116,801 (GRCm39) H326Y probably benign Het
Plec A G 15: 76,062,452 (GRCm39) F2563S probably damaging Het
Rc3h1 A G 1: 160,782,546 (GRCm39) Y675C probably damaging Het
Samd3 T A 10: 26,127,785 (GRCm39) S288T probably benign Het
Scaf4 G T 16: 90,047,177 (GRCm39) P400Q unknown Het
Selplg T C 5: 113,958,240 (GRCm39) D22G possibly damaging Het
Slc30a6 T C 17: 74,708,999 (GRCm39) probably benign Het
Syt3 T A 7: 44,045,222 (GRCm39) V518E probably damaging Het
Tnks G A 8: 35,432,815 (GRCm39) A2V unknown Het
Upk3a A G 15: 84,902,350 (GRCm39) Y59C probably benign Het
Usp4 T C 9: 108,245,055 (GRCm39) L331P probably damaging Het
Zbtb11 G A 16: 55,794,447 (GRCm39) R8Q probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGGATTACAGTGGTGATTTCCG -3'
(R):5'- ATAAACTACACTGCTACATTTCGGG -3'

Sequencing Primer
(F):5'- TTCCGTGAAAGAACACTTGGAC -3'
(R):5'- TTCTCACCAGATCAGAAATTCTCGGG -3'
Posted On 2014-12-29