Incidental Mutation 'R5235:Tdpoz8'
ID 398279
Institutional Source Beutler Lab
Gene Symbol Tdpoz8
Ensembl Gene ENSMUSG00000096879
Gene Name TD and POZ domain containing 8
Synonyms Gm4858
MMRRC Submission 042807-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R5235 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 92976130-92982812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92981393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 137 (D137G)
Ref Sequence ENSEMBL: ENSMUSP00000141677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179064] [ENSMUST00000194595] [ENSMUST00000195847]
AlphaFold A0A0A6YWS7
Predicted Effect probably damaging
Transcript: ENSMUST00000179064
AA Change: D63G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136458
Gene: ENSMUSG00000096879
AA Change: D63G

DomainStartEndE-ValueType
BTB 62 161 1.73e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000194595
AA Change: D63G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141574
Gene: ENSMUSG00000096879
AA Change: D63G

DomainStartEndE-ValueType
BTB 62 161 1.73e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195847
AA Change: D137G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141677
Gene: ENSMUSG00000096879
AA Change: D137G

DomainStartEndE-ValueType
Blast:MATH 1 78 5e-51 BLAST
SCOP:d1czya1 3 99 3e-12 SMART
BTB 136 235 1.1e-26 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,274,256 (GRCm39) H126Q possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aga A G 8: 53,967,361 (GRCm39) H124R probably damaging Het
Ank1 G A 8: 23,572,212 (GRCm39) G49R probably damaging Het
Aox1 G T 1: 58,096,714 (GRCm39) V270L possibly damaging Het
Arfrp1 T C 2: 181,001,298 (GRCm39) H145R probably benign Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg3 A G 16: 44,979,520 (GRCm39) T20A probably benign Het
C3ar1 A G 6: 122,827,881 (GRCm39) L112P probably damaging Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Csmd3 T C 15: 47,492,674 (GRCm39) T3156A probably benign Het
Dag1 T C 9: 108,084,897 (GRCm39) Y748C probably damaging Het
Dek A T 13: 47,239,955 (GRCm39) probably null Het
Fras1 G A 5: 96,748,609 (GRCm39) V695M probably benign Het
Gpx7 A G 4: 108,258,189 (GRCm39) S135P probably damaging Het
Ido2 A T 8: 25,037,202 (GRCm39) I168N probably damaging Het
Lca5 A T 9: 83,305,107 (GRCm39) L233* probably null Het
Liph A C 16: 21,802,785 (GRCm39) L95V probably damaging Het
Mast1 A T 8: 85,640,068 (GRCm39) L1113Q probably damaging Het
Nlrx1 C T 9: 44,175,047 (GRCm39) G243D probably damaging Het
Or4ac1-ps1 G A 2: 88,370,769 (GRCm39) noncoding transcript Het
Or5d40 T A 2: 88,015,912 (GRCm39) D230E probably benign Het
Otoa T C 7: 120,755,693 (GRCm39) L1033P probably damaging Het
Ovol3 A T 7: 29,932,899 (GRCm39) Y179N possibly damaging Het
Papss2 A G 19: 32,616,619 (GRCm39) N215S probably benign Het
Pcdhga8 T C 18: 37,860,488 (GRCm39) Y515H probably damaging Het
Phlda1 CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC CCAGCCCCAACCTCAGCCCCAACC 10: 111,343,252 (GRCm39) probably benign Het
Scn2a A T 2: 65,582,355 (GRCm39) N1568Y probably damaging Het
Sec16b A T 1: 157,362,334 (GRCm39) I251F probably benign Het
Slc29a4 T A 5: 142,704,523 (GRCm39) I355N probably damaging Het
Snx29 G T 16: 11,231,110 (GRCm39) C39F possibly damaging Het
Spata16 A G 3: 26,721,781 (GRCm39) M101V probably benign Het
Stat2 T C 10: 128,126,901 (GRCm39) probably null Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Tpm3 A G 3: 89,993,802 (GRCm39) E97G probably damaging Het
Ugt8a A C 3: 125,661,129 (GRCm39) H454Q probably damaging Het
Vmn2r27 T A 6: 124,169,013 (GRCm39) I706L probably damaging Het
Wdfy3 T C 5: 101,994,972 (GRCm39) I3256V probably null Het
Other mutations in Tdpoz8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02370:Tdpoz8 APN 3 92,981,354 (GRCm39) missense possibly damaging 0.61
R1872:Tdpoz8 UTSW 3 92,981,729 (GRCm39) missense probably damaging 1.00
R1992:Tdpoz8 UTSW 3 92,981,344 (GRCm39) missense probably benign 0.00
R3799:Tdpoz8 UTSW 3 92,981,393 (GRCm39) missense probably damaging 1.00
R5045:Tdpoz8 UTSW 3 92,981,524 (GRCm39) missense probably damaging 1.00
R5819:Tdpoz8 UTSW 3 92,981,039 (GRCm39) missense probably damaging 1.00
R6928:Tdpoz8 UTSW 3 92,981,267 (GRCm39) missense probably damaging 1.00
R6937:Tdpoz8 UTSW 3 92,981,417 (GRCm39) missense probably benign 0.14
R6956:Tdpoz8 UTSW 3 92,981,279 (GRCm39) missense possibly damaging 0.57
R7228:Tdpoz8 UTSW 3 92,980,993 (GRCm39) missense possibly damaging 0.96
R7273:Tdpoz8 UTSW 3 92,981,475 (GRCm39) missense probably damaging 1.00
R7308:Tdpoz8 UTSW 3 92,981,872 (GRCm39) missense probably benign
R7704:Tdpoz8 UTSW 3 92,981,752 (GRCm39) missense probably benign
R8783:Tdpoz8 UTSW 3 92,981,780 (GRCm39) missense probably damaging 1.00
R8846:Tdpoz8 UTSW 3 92,981,770 (GRCm39) missense possibly damaging 0.60
R9072:Tdpoz8 UTSW 3 92,981,341 (GRCm39) missense probably benign 0.05
R9219:Tdpoz8 UTSW 3 92,981,531 (GRCm39) missense probably damaging 0.96
R9698:Tdpoz8 UTSW 3 92,981,727 (GRCm39) missense possibly damaging 0.67
Z1176:Tdpoz8 UTSW 3 92,981,362 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGTCTCTAGCCCAAGTGC -3'
(R):5'- CACATCACTGGCCATAGAGTAG -3'

Sequencing Primer
(F):5'- GTGCTAACACCAGATGACAAATTTAC -3'
(R):5'- ATGCCTTCCCAGTGTAGATGAAGC -3'
Posted On 2016-07-06