Incidental Mutation 'R2243:Tatdn3'
ID 240712
Institutional Source Beutler Lab
Gene Symbol Tatdn3
Ensembl Gene ENSMUSG00000026632
Gene Name TatD DNase domain containing 3
Synonyms 1500010M24Rik
MMRRC Submission 040243-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2243 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 190778023-190795129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 190785097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 184 (Y184C)
Ref Sequence ENSEMBL: ENSMUSP00000106518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027945] [ENSMUST00000085633] [ENSMUST00000110891] [ENSMUST00000110893]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027945
AA Change: Y184C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027945
Gene: ENSMUSG00000026632
AA Change: Y184C

Pfam:TatD_DNase 6 263 5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085633
SMART Domains Protein: ENSMUSP00000082773
Gene: ENSMUSG00000026632

Pfam:TatD_DNase 6 170 1.1e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110891
AA Change: Y184C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106516
Gene: ENSMUSG00000026632
AA Change: Y184C

Pfam:TatD_DNase 6 231 2.3e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110893
AA Change: Y184C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106518
Gene: ENSMUSG00000026632
AA Change: Y184C

Pfam:TatD_DNase 6 264 1.8e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156341
Meta Mutation Damage Score 0.6600 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 G A 4: 144,503,991 (GRCm39) R387C probably benign Het
Agbl1 A T 7: 76,068,470 (GRCm39) E93D possibly damaging Het
Akap10 C A 11: 61,806,327 (GRCm39) V134F possibly damaging Het
Bnc1 T C 7: 81,623,821 (GRCm39) I469V possibly damaging Het
Bod1l T A 5: 41,978,888 (GRCm39) I809L possibly damaging Het
Dicer1 T A 12: 104,696,447 (GRCm39) E118V probably damaging Het
Dmbt1 T C 7: 130,648,292 (GRCm39) F274S probably benign Het
Dnaaf2 T G 12: 69,243,418 (GRCm39) T548P possibly damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Fchsd2 A G 7: 100,883,092 (GRCm39) N240S probably benign Het
Foxb1 T C 9: 69,667,146 (GRCm39) Y128C probably damaging Het
Fxr2 A T 11: 69,532,896 (GRCm39) K158M possibly damaging Het
Golga4 C A 9: 118,385,972 (GRCm39) D1031E probably benign Het
Hbb-bs T C 7: 103,477,018 (GRCm39) D22G possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hnrnpul2 T A 19: 8,798,001 (GRCm39) M119K probably benign Het
Kif18a C A 2: 109,128,452 (GRCm39) H369Q probably damaging Het
Klhdc10 A G 6: 30,449,558 (GRCm39) T207A probably damaging Het
Lig4 A G 8: 10,022,161 (GRCm39) C540R possibly damaging Het
Lilrb4b A T 10: 51,357,704 (GRCm39) N133Y possibly damaging Het
Lrrc31 T A 3: 30,739,179 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myof C T 19: 37,889,767 (GRCm39) R2009H probably damaging Het
Nlrp2 C T 7: 5,338,597 (GRCm39) V99I probably benign Het
Or2w3b G A 11: 58,623,271 (GRCm39) T240M probably damaging Het
Pcnx1 T C 12: 81,965,479 (GRCm39) S549P probably damaging Het
Pkhd1l1 T C 15: 44,410,323 (GRCm39) F2610S probably damaging Het
S100a14 A G 3: 90,435,114 (GRCm39) T42A possibly damaging Het
Serpina6 T A 12: 103,613,187 (GRCm39) Y371F probably benign Het
Slc43a3 T C 2: 84,778,782 (GRCm39) probably benign Het
Taldo1 C A 7: 140,972,217 (GRCm39) T28K probably damaging Het
Tep1 G C 14: 51,091,667 (GRCm39) R625G probably benign Het
Timm44 A T 8: 4,317,871 (GRCm39) I179N possibly damaging Het
Uimc1 A T 13: 55,198,552 (GRCm39) probably null Het
Vmn1r68 A T 7: 10,262,089 (GRCm39) V3E probably damaging Het
Zer1 A T 2: 29,991,139 (GRCm39) F683L probably damaging Het
Other mutations in Tatdn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Tatdn3 APN 1 190,787,578 (GRCm39) splice site probably benign
IGL02819:Tatdn3 APN 1 190,787,541 (GRCm39) missense probably benign 0.04
IGL02898:Tatdn3 APN 1 190,778,507 (GRCm39) makesense probably null
R0718:Tatdn3 UTSW 1 190,785,046 (GRCm39) splice site probably benign
R0892:Tatdn3 UTSW 1 190,795,002 (GRCm39) missense probably benign 0.22
R1635:Tatdn3 UTSW 1 190,792,373 (GRCm39) missense probably benign
R2018:Tatdn3 UTSW 1 190,781,477 (GRCm39) critical splice donor site probably null
R2088:Tatdn3 UTSW 1 190,785,073 (GRCm39) missense possibly damaging 0.59
R3933:Tatdn3 UTSW 1 190,778,521 (GRCm39) splice site probably null
R4676:Tatdn3 UTSW 1 190,781,531 (GRCm39) missense probably damaging 1.00
R5047:Tatdn3 UTSW 1 190,778,475 (GRCm39) missense probably damaging 1.00
R5923:Tatdn3 UTSW 1 190,781,507 (GRCm39) missense probably damaging 1.00
R6044:Tatdn3 UTSW 1 190,788,558 (GRCm39) critical splice donor site probably null
R6066:Tatdn3 UTSW 1 190,778,465 (GRCm39) missense probably benign 0.24
R7770:Tatdn3 UTSW 1 190,791,053 (GRCm39) missense probably benign 0.05
R8331:Tatdn3 UTSW 1 190,778,408 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-15