Incidental Mutation 'IGL00827:Dntt'
| ID |
10260 |
| 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 # |
IGL00827
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
41017714-41047964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41028262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 186
(G186D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051806]
[ENSMUST00000112200]
|
| AlphaFold |
P09838 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051806
AA Change: G186D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014
AA Change: G186D
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
29 |
114 |
3.05e-9 |
SMART |
|
POLXc
|
163 |
529 |
5.68e-196 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112200
AA Change: G186D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014
AA Change: G186D
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,837,290 (GRCm39) |
V265A |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,549,393 (GRCm39) |
D803E |
possibly damaging |
Het |
| Camk1d |
G |
A |
2: 5,315,884 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,339,283 (GRCm39) |
K3075E |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 77,889,830 (GRCm39) |
L229P |
probably damaging |
Het |
| Epdr1 |
A |
G |
13: 19,778,679 (GRCm39) |
I139T |
possibly damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,588 (GRCm39) |
|
probably benign |
Het |
| Hcar2 |
T |
C |
5: 124,002,565 (GRCm39) |
K313E |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,873,110 (GRCm39) |
C323S |
probably benign |
Het |
| Hsd3b5 |
G |
A |
3: 98,537,414 (GRCm39) |
A34V |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,639,993 (GRCm39) |
I1513F |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,605 (GRCm39) |
M208L |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,545,335 (GRCm39) |
T203A |
probably benign |
Het |
| Rims2 |
G |
A |
15: 39,335,755 (GRCm39) |
G788D |
probably damaging |
Het |
| Slc4a4 |
T |
G |
5: 89,327,545 (GRCm39) |
S626A |
probably benign |
Het |
| Steap4 |
A |
G |
5: 8,026,712 (GRCm39) |
Y225C |
probably damaging |
Het |
|
| Other mutations in Dntt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation