Incidental Mutation 'IGL03180:Dntt'
ID412194
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 #IGL03180
Quality Score
Status
Chromosome19
Chromosomal Location41029275-41059523 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 41029551 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 38 (F38Y)
Ref Sequence ENSEMBL: ENSMUSP00000107819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051806] [ENSMUST00000112200]
Predicted Effect probably benign
Transcript: ENSMUST00000051806
AA Change: F38Y

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014
AA Change: F38Y

DomainStartEndE-ValueType
BRCT 29 114 3.05e-9 SMART
POLXc 163 529 5.68e-196 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112200
AA Change: F38Y

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014
AA Change: F38Y

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,175,635 Y321H probably benign Het
Adam28 T A 14: 68,637,434 I265L probably damaging Het
Adcy8 T C 15: 64,783,950 D560G possibly damaging Het
Aff3 A G 1: 38,535,662 M79T probably damaging Het
Ahctf1 A G 1: 179,775,330 probably null Het
Aspn C T 13: 49,563,515 R256W probably damaging Het
Birc6 T C 17: 74,659,231 V4051A probably benign Het
Cfap46 G A 7: 139,603,252 L2584F unknown Het
Chdh T A 14: 30,034,602 probably null Het
Clasp1 A G 1: 118,505,525 T245A probably benign Het
Clec4a1 G A 6: 122,924,818 V70I probably benign Het
Cpt2 A T 4: 107,906,960 S536T probably damaging Het
Dnah9 A T 11: 65,886,639 H3694Q probably damaging Het
Eif4ebp2 T C 10: 61,433,810 E117G probably damaging Het
Eif5b T C 1: 38,036,269 I609T probably damaging Het
Esam G A 9: 37,534,570 G135S probably damaging Het
Fut7 C A 2: 25,425,453 A241D possibly damaging Het
Grin2d T A 7: 45,853,329 K706M probably damaging Het
Grip2 A G 6: 91,785,761 probably benign Het
Gtf2ird2 A G 5: 134,191,248 T22A probably damaging Het
Hadh T C 3: 131,271,884 I42V probably benign Het
Iqsec3 T A 6: 121,413,508 probably benign Het
Izumo3 G A 4: 92,146,287 probably benign Het
Ldlrad1 G T 4: 107,217,835 C193F probably damaging Het
Lgals4 G A 7: 28,837,628 G118R probably damaging Het
Map4k1 A C 7: 28,988,085 E136A probably damaging Het
Mapk8ip1 G T 2: 92,386,912 P346Q possibly damaging Het
Mkl2 A G 16: 13,398,332 K303E probably damaging Het
Nlrp14 T A 7: 107,182,626 H343Q probably benign Het
Ogg1 T G 6: 113,333,494 probably null Het
Olfr1023 A T 2: 85,887,396 M199L probably benign Het
Olfr361 C T 2: 37,085,710 V13M possibly damaging Het
Pafah1b1 A T 11: 74,683,518 C281S possibly damaging Het
Papss1 C T 3: 131,607,382 R386W probably damaging Het
Pex5 A G 6: 124,413,563 probably benign Het
Pibf1 C A 14: 99,133,344 Q261K probably benign Het
Plcb3 T C 19: 6,956,153 S935G probably benign Het
Polg A G 7: 79,451,853 probably benign Het
Ptpdc1 G A 13: 48,586,077 T626I probably damaging Het
Rab34 A T 11: 78,190,318 Y87F probably damaging Het
Rsrc1 T G 3: 67,082,543 probably benign Het
Ryr2 T C 13: 11,568,563 N4735S possibly damaging Het
Scn7a T C 2: 66,676,234 D1437G possibly damaging Het
Sdk1 A G 5: 142,085,742 E1229G probably damaging Het
Sez6l A T 5: 112,436,285 V806D probably damaging Het
Sgsm2 A C 11: 74,868,575 probably null Het
Sla A G 15: 66,789,720 I121T probably benign Het
Son T C 16: 91,657,008 L881S probably damaging Het
Srms A G 2: 181,212,780 probably benign Het
Stoml1 T C 9: 58,260,917 S304P probably damaging Het
Stt3a T C 9: 36,759,256 D73G probably damaging Het
Tmem206 G T 1: 191,338,892 V82F probably damaging Het
Tpp1 T C 7: 105,746,649 T558A probably benign Het
Trp53i13 T C 11: 77,512,702 probably benign Het
Vmn2r77 A G 7: 86,801,635 Y243C possibly damaging Het
Vwde T C 6: 13,205,765 D261G probably damaging Het
Wdr60 T C 12: 116,218,865 S706G probably benign Het
Zfpm2 A G 15: 41,101,394 K293R probably damaging 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
IGL02053:Dntt APN 19 41046274 missense probably benign 0.00
IGL02411:Dntt APN 19 41052985 splice site probably null
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
YA93:Dntt UTSW 19 41053187 missense probably benign
Posted On2016-08-02