Incidental Mutation 'R2846:Zbtb8os'
ID 251581
Institutional Source Beutler Lab
Gene Symbol Zbtb8os
Ensembl Gene ENSMUSG00000057572
Gene Name zinc finger and BTB domain containing 8 opposite strand
Synonyms Arch, 2010001H09Rik, 2310028N13Rik
MMRRC Submission 040439-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R2846 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 129229325-129243664 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129235309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 54 (E54D)
Ref Sequence ENSEMBL: ENSMUSP00000113004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119480] [ENSMUST00000141235] [ENSMUST00000146767]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000106047
AA Change: N44I
Predicted Effect probably damaging
Transcript: ENSMUST00000119480
AA Change: E54D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113004
Gene: ENSMUSG00000057572
AA Change: E54D

DomainStartEndE-ValueType
Pfam:Archease 31 119 4.6e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140272
Predicted Effect probably damaging
Transcript: ENSMUST00000141235
AA Change: E54D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120925
Gene: ENSMUSG00000057572
AA Change: E54D

DomainStartEndE-ValueType
Pfam:Archease 31 167 3.3e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146767
AA Change: E54D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114628
Gene: ENSMUSG00000057572
AA Change: E54D

DomainStartEndE-ValueType
Pfam:Archease 31 145 3.5e-40 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cdnf T A 2: 3,514,165 (GRCm39) M1K probably null Het
Ddx4 T A 13: 112,741,146 (GRCm39) K496M probably damaging Het
Dlg1 T C 16: 31,682,015 (GRCm39) S779P probably damaging Het
Dtna T A 18: 23,784,560 (GRCm39) probably null Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Gal3st2c A T 1: 93,924,122 (GRCm39) Q8L possibly damaging Het
Hsd3b1 T C 3: 98,760,094 (GRCm39) E299G probably damaging Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Irs4 C A X: 140,507,336 (GRCm39) G287W probably damaging Het
Kif21a T C 15: 90,818,667 (GRCm39) I1570V probably benign Het
Kremen1 GG GGGCG 11: 5,151,793 (GRCm39) probably benign Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mindy4 T C 6: 55,255,085 (GRCm39) V521A probably damaging Het
Or10al3 T C 17: 38,011,714 (GRCm39) I51T probably damaging Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pdgfrb C T 18: 61,197,088 (GRCm39) P175S probably benign Het
Pign C A 1: 105,585,521 (GRCm39) L9F possibly damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Prr12 G C 7: 44,695,436 (GRCm39) S1343R unknown Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Qpct A G 17: 79,378,171 (GRCm39) T114A probably damaging Het
Sec24d A G 3: 123,144,395 (GRCm39) D624G probably damaging Het
Shank2 A G 7: 143,623,792 (GRCm39) Y259C probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Smarcb1 C A 10: 75,733,375 (GRCm39) R332L probably damaging Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
St18 T A 1: 6,915,811 (GRCm39) C819S probably damaging Het
Tas2r124 A G 6: 132,732,230 (GRCm39) N180D possibly damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Tmem204 G A 17: 25,299,307 (GRCm39) H71Y probably benign Het
Vmn1r212 A G 13: 23,068,262 (GRCm39) S24P probably damaging Het
Vmn2r6 A G 3: 64,464,211 (GRCm39) S208P possibly damaging Het
Zmiz1 A G 14: 25,646,099 (GRCm39) S259G probably benign Het
Other mutations in Zbtb8os
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0597:Zbtb8os UTSW 4 129,240,670 (GRCm39) missense probably damaging 1.00
R2843:Zbtb8os UTSW 4 129,235,309 (GRCm39) missense probably damaging 0.99
R2844:Zbtb8os UTSW 4 129,235,309 (GRCm39) missense probably damaging 0.99
R2845:Zbtb8os UTSW 4 129,235,309 (GRCm39) missense probably damaging 0.99
R4132:Zbtb8os UTSW 4 129,229,906 (GRCm39) missense probably damaging 1.00
R4714:Zbtb8os UTSW 4 129,235,557 (GRCm39) missense probably damaging 0.98
R5138:Zbtb8os UTSW 4 129,240,719 (GRCm39) intron probably benign
R5579:Zbtb8os UTSW 4 129,234,528 (GRCm39) missense probably damaging 0.99
R6019:Zbtb8os UTSW 4 129,234,542 (GRCm39) missense possibly damaging 0.93
R6265:Zbtb8os UTSW 4 129,229,775 (GRCm39) start gained probably benign
R6365:Zbtb8os UTSW 4 129,236,945 (GRCm39) missense possibly damaging 0.89
R8884:Zbtb8os UTSW 4 129,236,924 (GRCm39) missense probably benign 0.17
Z1176:Zbtb8os UTSW 4 129,235,314 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GGGTGTCGTCAAATTAGACATGTAG -3'
(R):5'- TCCCCTACAGAGTGGAAAGG -3'

Sequencing Primer
(F):5'- CACATACTGTGGCCTCTT -3'
(R):5'- GTTCAGAATCCACCCTGAGG -3'
Posted On 2014-12-04