Incidental Mutation 'IGL01531:Dntt'
ID89752
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 #IGL01531
Quality Score
Status
Chromosome19
Chromosomal Location41029275-41059523 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 41053238 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 454 (R454*)
Ref Sequence ENSEMBL: ENSMUSP00000107819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051806] [ENSMUST00000112200]
Predicted Effect probably null
Transcript: ENSMUST00000051806
AA Change: R454*
SMART Domains Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014
AA Change: R454*

DomainStartEndE-ValueType
BRCT 29 114 3.05e-9 SMART
POLXc 163 529 5.68e-196 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112200
AA Change: R454*
SMART Domains Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014
AA Change: R454*

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,466,958 probably null Het
Adcy1 T C 11: 7,169,414 V1019A possibly damaging Het
Blm A G 7: 80,474,071 Y1004H probably damaging Het
Btbd11 T C 10: 85,629,205 probably benign Het
Cachd1 A C 4: 100,953,034 I278L probably benign Het
Ddx18 T A 1: 121,564,586 T131S probably benign Het
Dgkd T C 1: 87,880,411 F67S probably damaging Het
Dlgap1 A G 17: 70,516,379 T120A probably damaging Het
Dnaja3 T G 16: 4,694,404 V224G probably damaging Het
Dync2h1 T A 9: 7,071,111 T3083S probably benign Het
Eea1 C A 10: 96,031,677 T1045K probably damaging Het
Gpnmb T A 6: 49,047,458 probably benign Het
Hirip3 A G 7: 126,863,376 E108G possibly damaging Het
Il33 C A 19: 29,951,981 Q35K possibly damaging Het
Il6ra G A 3: 89,886,043 L267F probably damaging Het
Impact C T 18: 12,976,019 S69F probably benign Het
Klk9 G A 7: 43,792,251 G39D probably damaging Het
Ldah A G 12: 8,227,337 D91G probably benign Het
Lrp4 T C 2: 91,511,553 L1837P probably damaging Het
Mov10l1 T A 15: 89,054,352 H1204Q probably damaging Het
Nlrp4c A G 7: 6,060,656 E21G probably damaging Het
Olfr361 T C 2: 37,085,395 M118V possibly damaging Het
Olfr629 T A 7: 103,741,114 N42I probably damaging Het
Osbpl1a T G 18: 12,933,581 K40N probably damaging Het
Ptprd T C 4: 76,085,520 T1010A probably damaging Het
Rp1 A G 1: 4,348,945 V648A probably benign Het
Scn9a T C 2: 66,537,378 K654E probably benign Het
Sema3d A G 5: 12,541,080 I309V probably benign Het
Slc6a2 T C 8: 92,995,682 L519P probably damaging Het
Stard9 A G 2: 120,673,604 I211V possibly damaging Het
Stau2 T C 1: 16,345,698 *480W probably null Het
Svopl T C 6: 38,026,941 probably benign Het
Virma A G 4: 11,528,753 E1330G probably damaging Het
Zan G A 5: 137,424,612 T2713I unknown Het
Other mutations in Dntt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Dntt APN 19 41039823 missense probably benign 0.01
IGL01859:Dntt APN 19 41037304 missense probably benign
IGL02053:Dntt APN 19 41046274 missense probably benign 0.00
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 On2013-12-03