Incidental Mutation 'R9110:Dntt'
ID 692230
Institutional Source Beutler Lab
Gene Symbol Dntt
Ensembl Gene ENSMUSG00000025014
Gene Name deoxynucleotidyltransferase, terminal
Synonyms Tdt
MMRRC Submission 068919-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9110 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 41017714-41047964 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 41044197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000062078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051806] [ENSMUST00000051806] [ENSMUST00000112200]
AlphaFold P09838
PDB Structure Crystal Structure of the Catalytic Core of Murine Terminal Deoxynucleotidyl Transferase [X-RAY DIFFRACTION]
Binary Complex of Murine Terminal Deoxynucleotidyl Transferase with a Primer Single Stranded DNA [X-RAY DIFFRACTION]
Crystal Structure of Murine Terminal Deoxynucleotidyl Transferase complexed with ddATP [X-RAY DIFFRACTION]
Ternary complex of mouse TdT with ssDNA and incoming nucleotide [X-RAY DIFFRACTION]
Binary complex of mouse TdT with ssDNA and Zn++ [X-RAY DIFFRACTION]
Binary complex of mouse TdT with ssDNA and Mn++ [X-RAY DIFFRACTION]
Binary complex of mouse TdT with ssDNA in absence of divalent transition metal ion [X-RAY DIFFRACTION]
Ternary complex of mouse TdT with ssDNA and AMPcPP [X-RAY DIFFRACTION]
Ternary complex of mouse TdT with ssDNA and AMPcPP [X-RAY DIFFRACTION]
Binary complex of mouse TdT with AMPcPP [X-RAY DIFFRACTION]
>> 10 additional structures at PDB <<
Predicted Effect probably null
Transcript: ENSMUST00000051806
SMART Domains Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014

DomainStartEndE-ValueType
BRCT 29 114 3.05e-9 SMART
POLXc 163 529 5.68e-196 SMART
Predicted Effect probably null
Transcript: ENSMUST00000051806
SMART Domains Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014

DomainStartEndE-ValueType
BRCT 29 114 3.05e-9 SMART
POLXc 163 529 5.68e-196 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112200
SMART Domains Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014

DomainStartEndE-ValueType
BRCT 29 114 3.05e-9 SMART
POLXc 163 509 1.19e-198 SMART
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in lack of "N" nucleotide insertions at the junctions of immunoglobulin and T cell receptor V(D)J rearrangements. Forced expression of terminal deoxynucleotidyl transferase in fetal thymus leads to decreased gamma-delta T cell number. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(2)

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,831,615 (GRCm39) probably benign Het
Adam20 A G 8: 41,248,907 (GRCm39) D339G probably benign Het
Adam3 T A 8: 25,193,821 (GRCm39) Y397F probably benign Het
Ago3 C T 4: 126,248,829 (GRCm39) G574E probably damaging Het
Angptl4 T A 17: 33,999,800 (GRCm39) Y133F probably benign Het
Ankrd61 T C 5: 143,831,759 (GRCm39) D15G possibly damaging Het
Arfgap1 T A 2: 180,615,330 (GRCm39) S174T possibly damaging Het
Arhgap12 T C 18: 6,034,539 (GRCm39) D549G possibly damaging Het
Arhgap25 T C 6: 87,453,254 (GRCm39) E182G probably benign Het
Astn1 T G 1: 158,496,327 (GRCm39) I1127S probably benign Het
Bivm T C 1: 44,168,526 (GRCm39) probably null Het
Cdc42bpa T A 1: 179,945,258 (GRCm39) S952T possibly damaging Het
Cfap44 T A 16: 44,255,923 (GRCm39) L1005Q probably damaging Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cog1 T C 11: 113,544,807 (GRCm39) F330L possibly damaging Het
Dnah2 T G 11: 69,435,208 (GRCm39) D54A probably benign Het
Eml2 A G 7: 18,925,620 (GRCm39) S240G probably benign Het
Fam174b G A 7: 73,416,371 (GRCm39) probably benign Het
Fancd2 T C 6: 113,512,762 (GRCm39) S33P possibly damaging Het
Fars2 A T 13: 36,430,402 (GRCm39) M277L probably benign Het
Ifnar1 G A 16: 91,302,150 (GRCm39) G542S probably benign Het
Itih5 T C 2: 10,191,831 (GRCm39) V122A probably benign Het
Jph3 A G 8: 122,516,201 (GRCm39) I740V probably benign Het
Krtap16-1 C T 11: 99,877,386 (GRCm39) C6Y probably benign Het
Mettl25b G A 3: 87,834,978 (GRCm39) H57Y probably benign Het
Mpeg1 A T 19: 12,440,014 (GRCm39) T491S probably benign Het
Mroh8 T A 2: 157,055,605 (GRCm39) I998L possibly damaging Het
Nrxn1 G A 17: 90,869,233 (GRCm39) Q124* probably null Het
Nup188 T A 2: 30,222,461 (GRCm39) S1028T possibly damaging Het
Nxf1 A T 19: 8,745,118 (GRCm39) H456L probably damaging Het
Or2aj6 T A 16: 19,443,743 (GRCm39) I36F possibly damaging Het
Or2n1d C A 17: 38,646,434 (GRCm39) P129T probably damaging Het
Or5af2 T A 11: 58,707,959 (GRCm39) S42T possibly damaging Het
Or5w19 T A 2: 87,698,543 (GRCm39) D69E probably damaging Het
Or6c66 T A 10: 129,461,820 (GRCm39) I37F possibly damaging Het
Otx2 T C 14: 48,896,227 (GRCm39) N277S probably damaging Het
Pax4 T C 6: 28,445,201 (GRCm39) N158S probably benign Het
Pgm2 T G 5: 64,261,159 (GRCm39) S218A probably benign Het
Plb1 T C 5: 32,521,402 (GRCm39) S1418P probably benign Het
Prkd3 T A 17: 79,292,751 (GRCm39) D107V probably damaging Het
Prl2a1 A G 13: 27,992,398 (GRCm39) E174G probably benign Het
Prr7 C T 13: 55,620,574 (GRCm39) P194L probably damaging Het
Psmd2 T C 16: 20,470,994 (GRCm39) S46P probably damaging Het
Ptbp2 C T 3: 119,541,258 (GRCm39) A231T possibly damaging Het
Rae1 A G 2: 172,854,016 (GRCm39) T265A probably benign Het
Sct T C 7: 140,859,007 (GRCm39) E2G unknown Het
Sec14l3 T G 11: 4,015,007 (GRCm39) probably null Het
Sfxn3 T A 19: 45,038,727 (GRCm39) N131K probably damaging Het
Slc18a2 A T 19: 59,282,326 (GRCm39) D511V probably benign Het
Slc20a2 T C 8: 23,025,457 (GRCm39) I53T probably damaging Het
Smad4 T C 18: 73,782,941 (GRCm39) D331G probably damaging Het
Srms C T 2: 180,848,050 (GRCm39) R485H Het
Szt2 C A 4: 118,242,630 (GRCm39) A1486S possibly damaging Het
Tmem87b C T 2: 128,684,615 (GRCm39) Q459* probably null Het
Vdr A T 15: 97,782,753 (GRCm39) I23N probably damaging Het
Vmn1r204 T C 13: 22,740,564 (GRCm39) V65A possibly damaging Het
Vps33b A G 7: 79,939,743 (GRCm39) D498G probably benign Het
Zfp442 T A 2: 150,250,093 (GRCm39) Y603F probably benign Het
Zfp853 T A 5: 143,275,320 (GRCm39) Q115L unknown Het
Zmiz2 C A 11: 6,348,271 (GRCm39) Q303K probably benign Het
Other mutations in Dntt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Dntt APN 19 41,028,262 (GRCm39) missense probably benign 0.01
IGL01531:Dntt APN 19 41,041,677 (GRCm39) nonsense probably null
IGL01859:Dntt APN 19 41,025,743 (GRCm39) missense probably benign
IGL02053:Dntt APN 19 41,034,713 (GRCm39) missense probably benign 0.00
IGL02411:Dntt APN 19 41,041,424 (GRCm39) splice site probably null
IGL03180:Dntt APN 19 41,017,990 (GRCm39) missense probably benign 0.09
catbird UTSW 19 41,041,672 (GRCm39) missense probably damaging 1.00
mimetic UTSW 19 41,025,578 (GRCm39) splice site probably benign
wren UTSW 19 41,044,197 (GRCm39) critical splice acceptor site probably null
R0106:Dntt UTSW 19 41,044,185 (GRCm39) splice site probably benign
R0122:Dntt UTSW 19 41,041,477 (GRCm39) missense possibly damaging 0.95
R0194:Dntt UTSW 19 41,027,409 (GRCm39) missense possibly damaging 0.90
R0266:Dntt UTSW 19 41,047,566 (GRCm39) missense probably damaging 0.99
R0377:Dntt UTSW 19 41,036,066 (GRCm39) nonsense probably null
R0412:Dntt UTSW 19 41,031,372 (GRCm39) missense probably damaging 1.00
R0604:Dntt UTSW 19 41,041,588 (GRCm39) missense probably benign 0.01
R1350:Dntt UTSW 19 41,025,578 (GRCm39) splice site probably benign
R1577:Dntt UTSW 19 41,044,224 (GRCm39) missense probably damaging 1.00
R1677:Dntt UTSW 19 41,017,923 (GRCm39) missense probably benign 0.26
R2567:Dntt UTSW 19 41,029,775 (GRCm39) missense possibly damaging 0.81
R4380:Dntt UTSW 19 41,041,672 (GRCm39) missense probably damaging 1.00
R4703:Dntt UTSW 19 41,028,242 (GRCm39) missense probably benign 0.00
R4999:Dntt UTSW 19 41,028,295 (GRCm39) missense probably damaging 0.99
R6257:Dntt UTSW 19 41,041,501 (GRCm39) missense probably damaging 1.00
R6757:Dntt UTSW 19 41,025,601 (GRCm39) missense probably damaging 1.00
R7340:Dntt UTSW 19 41,047,004 (GRCm39) critical splice acceptor site probably null
R7388:Dntt UTSW 19 41,027,418 (GRCm39) missense probably benign 0.01
R7553:Dntt UTSW 19 41,017,926 (GRCm39) missense probably damaging 0.99
R7806:Dntt UTSW 19 41,018,071 (GRCm39) missense probably benign 0.02
R8145:Dntt UTSW 19 41,044,224 (GRCm39) missense probably damaging 1.00
R8940:Dntt UTSW 19 41,046,990 (GRCm39) intron probably benign
R9085:Dntt UTSW 19 41,044,220 (GRCm39) missense probably damaging 1.00
R9378:Dntt UTSW 19 41,027,356 (GRCm39) missense probably benign 0.05
YA93:Dntt UTSW 19 41,041,626 (GRCm39) missense probably benign
Z1177:Dntt UTSW 19 41,044,254 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTTCTAGTACAGGGAGCC -3'
(R):5'- AAAGAACTGGCTCCCCTGAC -3'

Sequencing Primer
(F):5'- TGTTCTAGTACAGGGAGCCCAGAG -3'
(R):5'- ATGCAACCATTTTCCCCAATG -3'
Posted On 2021-12-30