Incidental Mutation 'IGL01531:Dntt'
| ID |
89752 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dntt
|
| Ensembl Gene |
ENSMUSG00000025014 |
| Gene Name |
deoxynucleotidyltransferase, terminal |
| Synonyms |
Tdt |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01531
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
41017714-41047964 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 41041677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
P09838 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051806
AA Change: R454*
|
| SMART Domains |
Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014
AA Change: R454*
| Domain | Start | End | E-Value | Type |
|---|
|
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*
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,603,494 (GRCm39) |
|
probably null |
Het |
| Abtb3 |
T |
C |
10: 85,465,069 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,119,414 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Blm |
A |
G |
7: 80,123,819 (GRCm39) |
Y1004H |
probably damaging |
Het |
| Cachd1 |
A |
C |
4: 100,810,231 (GRCm39) |
I278L |
probably benign |
Het |
| Ddx18 |
T |
A |
1: 121,492,315 (GRCm39) |
T131S |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,808,133 (GRCm39) |
F67S |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,823,374 (GRCm39) |
T120A |
probably damaging |
Het |
| Dnaja3 |
T |
G |
16: 4,512,268 (GRCm39) |
V224G |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,071,111 (GRCm39) |
T3083S |
probably benign |
Het |
| Eea1 |
C |
A |
10: 95,867,539 (GRCm39) |
T1045K |
probably damaging |
Het |
| Gpnmb |
T |
A |
6: 49,024,392 (GRCm39) |
|
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,548 (GRCm39) |
E108G |
possibly damaging |
Het |
| Il33 |
C |
A |
19: 29,929,381 (GRCm39) |
Q35K |
possibly damaging |
Het |
| Il6ra |
G |
A |
3: 89,793,350 (GRCm39) |
L267F |
probably damaging |
Het |
| Impact |
C |
T |
18: 13,109,076 (GRCm39) |
S69F |
probably benign |
Het |
| Klk1b9 |
G |
A |
7: 43,441,675 (GRCm39) |
G39D |
probably damaging |
Het |
| Ldah |
A |
G |
12: 8,277,337 (GRCm39) |
D91G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,341,898 (GRCm39) |
L1837P |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,938,555 (GRCm39) |
H1204Q |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,063,655 (GRCm39) |
E21G |
probably damaging |
Het |
| Or12k8 |
T |
C |
2: 36,975,407 (GRCm39) |
M118V |
possibly damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,390,321 (GRCm39) |
N42I |
probably damaging |
Het |
| Osbpl1a |
T |
G |
18: 13,066,638 (GRCm39) |
K40N |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,003,757 (GRCm39) |
T1010A |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,419,168 (GRCm39) |
V648A |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,367,722 (GRCm39) |
K654E |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,591,047 (GRCm39) |
I309V |
probably benign |
Het |
| Slc6a2 |
T |
C |
8: 93,722,310 (GRCm39) |
L519P |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,504,085 (GRCm39) |
I211V |
possibly damaging |
Het |
| Stau2 |
T |
C |
1: 16,415,922 (GRCm39) |
*480W |
probably null |
Het |
| Svopl |
T |
C |
6: 38,003,876 (GRCm39) |
|
probably benign |
Het |
| Virma |
A |
G |
4: 11,528,753 (GRCm39) |
E1330G |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,422,874 (GRCm39) |
T2713I |
unknown |
Het |
|
| Other mutations in Dntt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00827:Dntt
|
APN |
19 |
41,028,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation