Incidental Mutation 'R2844:Zbtb8os'
ID 251418
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 040437-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R2844 (G1)
Quality Score 225
Status 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: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 G A 3: 59,843,830 (GRCm39) V175I probably benign Het
Abcb1a A T 5: 8,736,164 (GRCm39) I186F probably benign Het
Afg3l1 T C 8: 124,221,678 (GRCm39) probably benign Het
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Ccdc50 A G 16: 27,225,479 (GRCm39) E64G probably damaging Het
Celsr3 G T 9: 108,706,507 (GRCm39) G997W probably damaging Het
Chd8 C T 14: 52,441,952 (GRCm39) E2138K possibly damaging Het
Col19a1 C T 1: 24,598,762 (GRCm39) G77E unknown Het
Dnaaf11 A G 15: 66,319,525 (GRCm39) probably benign Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Fzr1 G T 10: 81,205,252 (GRCm39) T159K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gna13 T C 11: 109,253,951 (GRCm39) I51T probably damaging Het
Gorab A G 1: 163,224,375 (GRCm39) probably null Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Ints6 A G 14: 62,942,275 (GRCm39) V486A probably damaging Het
Irx2 A G 13: 72,779,709 (GRCm39) K331R probably damaging Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Med14 A T X: 12,550,235 (GRCm39) H684Q probably benign Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pde5a T C 3: 122,645,357 (GRCm39) L755P probably damaging Het
Pex14 A T 4: 149,047,968 (GRCm39) I203N probably benign Het
Pi4ka T C 16: 17,168,657 (GRCm39) E691G probably damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Pnoc A T 14: 65,642,284 (GRCm39) F160I probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Ppil6 A T 10: 41,377,689 (GRCm39) probably benign Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Psme4 T C 11: 30,795,173 (GRCm39) probably benign Het
Rfx3 T C 19: 27,784,186 (GRCm39) probably benign Het
Rnase11 A G 14: 51,287,227 (GRCm39) L109S probably damaging Het
Rngtt A G 4: 33,368,678 (GRCm39) T404A probably benign Het
Sbf1 A G 15: 89,187,421 (GRCm39) probably null Het
Sema5b A G 16: 35,480,301 (GRCm39) N656S probably damaging Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Thbs1 C T 2: 117,948,109 (GRCm39) T423I probably benign Het
Ttc17 A T 2: 94,206,419 (GRCm39) Y243* probably null Het
Zfp648 A T 1: 154,080,881 (GRCm39) K347* probably null Het
Zfp84 T G 7: 29,474,758 (GRCm39) probably null 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
R2845:Zbtb8os UTSW 4 129,235,309 (GRCm39) missense probably damaging 0.99
R2846: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'- TCCTATATGGGTGTCGTCAAATTAGAC -3'
(R):5'- TCCCCTACAGAGTGGAAAGGAC -3'

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