Incidental Mutation 'IGL02053:Dntt'
ID185152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dntt
Ensembl Gene ENSMUSG00000025014
Gene Namedeoxynucleotidyltransferase, terminal
SynonymsTdt
Accession Numbers

Genbank: NM_009345 ; MGI: 98659

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02053
Quality Score
Status
Chromosome19
Chromosomal Location41029275-41059523 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41046274 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 321 (T321A)
Ref Sequence ENSEMBL: ENSMUSP00000107819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051806] [ENSMUST00000112200]
Predicted Effect probably benign
Transcript: ENSMUST00000051806
AA Change: T321A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014
AA Change: T321A

DomainStartEndE-ValueType
BRCT 29 114 3.05e-9 SMART
POLXc 163 529 5.68e-196 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112200
AA Change: T321A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014
AA Change: T321A

DomainStartEndE-ValueType
BRCT 29 114 3.05e-9 SMART
POLXc 163 509 1.19e-198 SMART
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik T C 6: 129,326,762 Q80R probably benign Het
Adgrf5 T C 17: 43,450,167 S918P possibly damaging Het
AY358078 G T 14: 51,805,552 E232D unknown Het
Baz1b C A 5: 135,242,466 P1301Q probably benign Het
Btn2a2 T C 13: 23,478,820 D311G probably damaging Het
Cept1 A T 3: 106,533,396 L149Q probably damaging Het
Col6a4 T A 9: 106,063,095 D1212V possibly damaging Het
Cyp2j8 T C 4: 96,470,654 I343V probably damaging Het
Dapk2 A G 9: 66,220,745 I102V probably benign Het
Ezh1 T C 11: 101,199,943 probably benign Het
Fam189a1 C T 7: 64,819,842 G53R probably damaging Het
Fbxw5 T C 2: 25,503,441 V18A probably damaging Het
Fgd5 T A 6: 92,053,244 C1109S probably benign Het
Ms4a6c A G 19: 11,478,222 I132V probably benign Het
Ncoa3 T C 2: 166,054,834 L515P probably damaging Het
Nfic A G 10: 81,420,551 V115A probably damaging Het
P4ha2 A G 11: 54,117,587 T207A probably benign Het
Pde10a G T 17: 8,974,769 V732L probably damaging Het
Pfas A T 11: 68,992,953 L626Q probably damaging Het
Plekha6 A G 1: 133,272,492 N270D probably damaging Het
Prdm10 T C 9: 31,360,848 S977P probably benign Het
Ptprm A G 17: 66,693,841 L1073P probably damaging Het
Rai14 A C 15: 10,633,156 H49Q probably benign Het
Ros1 T A 10: 52,162,720 I394F probably damaging Het
Sec14l1 C T 11: 117,156,912 probably benign Het
Sema5a A G 15: 32,550,267 I151V probably benign Het
Tet2 T A 3: 133,488,523 N50I possibly damaging Het
Tubal3 A C 13: 3,933,159 D313A probably damaging Het
Usp45 A G 4: 21,824,553 N483S probably benign Het
Other mutations in Dntt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Dntt APN 19 41039823 missense probably benign 0.01
IGL01531:Dntt APN 19 41053238 nonsense probably null
IGL01859:Dntt APN 19 41037304 missense probably benign
IGL02411:Dntt APN 19 41052985 splice site probably null
IGL03180:Dntt APN 19 41029551 missense probably benign 0.09
R0106:Dntt UTSW 19 41055746 splice site probably benign
R0122:Dntt UTSW 19 41053038 missense possibly damaging 0.95
R0194:Dntt UTSW 19 41038970 missense possibly damaging 0.90
R0266:Dntt UTSW 19 41059127 missense probably damaging 0.99
R0377:Dntt UTSW 19 41047627 nonsense probably null
R0412:Dntt UTSW 19 41042933 missense probably damaging 1.00
R0604:Dntt UTSW 19 41053149 missense probably benign 0.01
R1350:Dntt UTSW 19 41037139 splice site probably benign
R1577:Dntt UTSW 19 41055785 missense probably damaging 1.00
R1677:Dntt UTSW 19 41029484 missense probably benign 0.26
R2567:Dntt UTSW 19 41041336 missense possibly damaging 0.81
R4380:Dntt UTSW 19 41053233 missense probably damaging 1.00
R4703:Dntt UTSW 19 41039803 missense probably benign 0.00
R4999:Dntt UTSW 19 41039856 missense probably damaging 0.99
R6257:Dntt UTSW 19 41053062 missense probably damaging 1.00
R6757:Dntt UTSW 19 41037162 missense probably damaging 1.00
R7340:Dntt UTSW 19 41058565 critical splice acceptor site probably null
R7388:Dntt UTSW 19 41038979 missense probably benign 0.01
R7553:Dntt UTSW 19 41029487 missense probably damaging 0.99
R7806:Dntt UTSW 19 41029632 missense probably benign 0.02
R8145:Dntt UTSW 19 41055785 missense probably damaging 1.00
YA93:Dntt UTSW 19 41053187 missense probably benign
Z1177:Dntt UTSW 19 41055815 missense probably damaging 1.00
Posted On2014-05-07