Incidental Mutation 'R0377:Dntt'
ID 30834
Institutional Source Beutler Lab
Gene Symbol Dntt
Ensembl Gene ENSMUSG00000025014
Gene Name deoxynucleotidyltransferase, terminal
Synonyms Tdt
MMRRC Submission 038583-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0377 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 41017714-41047964 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 41036066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 369 (W369*)
Ref Sequence ENSEMBL: ENSMUSP00000107819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051806] [ENSMUST00000112200]
AlphaFold P09838
Predicted Effect probably null
Transcript: ENSMUST00000051806
AA Change: W369*
SMART Domains Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014
AA Change: W369*

DomainStartEndE-ValueType
BRCT 29 114 3.05e-9 SMART
POLXc 163 529 5.68e-196 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112200
AA Change: W369*
SMART Domains Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014
AA Change: W369*

DomainStartEndE-ValueType
BRCT 29 114 3.05e-9 SMART
POLXc 163 509 1.19e-198 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
Validation Efficiency 97% (67/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 C A 11: 94,265,922 (GRCm39) V107F possibly damaging Het
Acad11 T A 9: 103,958,891 (GRCm39) probably benign Het
Ache G A 5: 137,289,190 (GRCm39) E299K possibly damaging Het
Adam5 T C 8: 25,237,557 (GRCm39) T618A probably benign Het
Amigo2 T A 15: 97,144,261 (GRCm39) T54S possibly damaging Het
Anapc1 A G 2: 128,483,260 (GRCm39) probably null Het
Btaf1 A G 19: 36,966,402 (GRCm39) K1057E probably benign Het
Cep55 T A 19: 38,060,337 (GRCm39) L396* probably null Het
Cic C A 7: 24,985,224 (GRCm39) H1157N probably damaging Het
Cntnap5a A T 1: 116,220,259 (GRCm39) T690S probably benign Het
D5Ertd579e A T 5: 36,761,911 (GRCm39) C1319S probably benign Het
Dnah6 A G 6: 73,098,975 (GRCm39) S2027P possibly damaging Het
Dnai4 A G 4: 102,905,456 (GRCm39) V775A probably damaging Het
Esp18 T A 17: 39,720,835 (GRCm39) W27R probably benign Het
Fam227b A T 2: 125,966,920 (GRCm39) probably benign Het
Fbxo31 G A 8: 122,285,841 (GRCm39) probably benign Het
Gm13547 G A 2: 29,651,803 (GRCm39) probably null Het
Gnl2 T A 4: 124,940,175 (GRCm39) probably benign Het
Gpx2 G A 12: 76,841,930 (GRCm39) Q74* probably null Het
Gucy2c A G 6: 136,727,915 (GRCm39) probably null Het
Hoxa5 A T 6: 52,179,626 (GRCm39) W250R probably damaging Het
Izumo4 G A 10: 80,538,674 (GRCm39) R42H probably damaging Het
Kcnj12 G A 11: 60,960,222 (GRCm39) M71I probably benign Het
Kmt2b A T 7: 30,273,618 (GRCm39) L2333Q probably damaging Het
Mak T C 13: 41,202,824 (GRCm39) E177G probably damaging Het
Map3k7 T A 4: 31,985,731 (GRCm39) I218N probably damaging Het
Mark3 T C 12: 111,595,463 (GRCm39) L393P probably damaging Het
Msh4 A G 3: 153,602,527 (GRCm39) S234P probably benign Het
Mug1 A G 6: 121,834,320 (GRCm39) D367G probably benign Het
Mypn A G 10: 62,963,401 (GRCm39) probably benign Het
Ncapg T C 5: 45,851,159 (GRCm39) V784A probably benign Het
Nutf2 T A 8: 106,605,504 (GRCm39) V113D probably damaging Het
Odad2 G A 18: 7,127,415 (GRCm39) R933C probably benign Het
Opn3 T C 1: 175,491,260 (GRCm39) M258V probably damaging Het
Or8k33 A T 2: 86,383,927 (GRCm39) D180E probably damaging Het
Osbpl7 A G 11: 96,946,760 (GRCm39) D211G probably damaging Het
Pcnx1 C T 12: 82,021,353 (GRCm39) probably benign Het
Plekhd1 G A 12: 80,753,210 (GRCm39) probably benign Het
Pnpla6 A G 8: 3,591,501 (GRCm39) E1165G probably damaging Het
Prkab2 T A 3: 97,569,633 (GRCm39) D66E probably benign Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Ptpn23 A T 9: 110,217,200 (GRCm39) S885R possibly damaging Het
Rab26 A T 17: 24,749,019 (GRCm39) probably benign Het
Rab5a G A 17: 53,807,490 (GRCm39) M175I probably benign Het
Rassf9 T A 10: 102,381,510 (GRCm39) D297E probably benign Het
Rimbp2 C T 5: 128,880,925 (GRCm39) R161Q probably damaging Het
Rtp1 A G 16: 23,250,034 (GRCm39) Y133C probably damaging Het
Sdr16c5 G A 4: 4,005,546 (GRCm39) L263F probably benign Het
Sec14l1 T G 11: 117,039,966 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spaca1 T C 4: 34,044,267 (GRCm39) probably null Het
Stk36 C T 1: 74,651,889 (GRCm39) P394L probably benign Het
Stk4 T C 2: 163,938,720 (GRCm39) I196T probably damaging Het
Sult1b1 A T 5: 87,665,235 (GRCm39) M233K probably damaging Het
Tmem8b C T 4: 43,674,005 (GRCm39) T212M probably damaging Het
Tmprss11g A T 5: 86,638,610 (GRCm39) F293I probably damaging Het
Tnfsf11 T G 14: 78,537,352 (GRCm39) T104P probably benign Het
Trmt2a G A 16: 18,067,567 (GRCm39) R80Q possibly damaging Het
Trps1 C A 15: 50,695,174 (GRCm39) E324* probably null Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Wdr18 G A 10: 79,803,336 (GRCm39) R400H probably benign Het
Zfp119b T A 17: 56,245,671 (GRCm39) H505L probably damaging Het
Zfp619 T A 7: 39,186,221 (GRCm39) C750* probably null Het
Zfr T C 15: 12,160,677 (GRCm39) I750T 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
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
R9110:Dntt UTSW 19 41,044,197 (GRCm39) critical splice acceptor site probably null
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'- CAAAGCTCTTGGTTGGCTGCCT -3'
(R):5'- GCGTGTCACATACACACCATGCATA -3'

Sequencing Primer
(F):5'- GTTGGCTGCCTATTGTCATAC -3'
(R):5'- cataacaaacacatcacacacac -3'
Posted On 2013-04-24