Incidental Mutation 'IGL02411:Dntt'
ID |
292320 |
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 # |
IGL02411
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
41017714-41047964 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 41041424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051806]
[ENSMUST00000051806]
[ENSMUST00000051806]
[ENSMUST00000112200]
[ENSMUST00000112200]
[ENSMUST00000112200]
|
AlphaFold |
P09838 |
Predicted Effect |
probably null
Transcript: ENSMUST00000051806
|
SMART Domains |
Protein: ENSMUSP00000062078 Gene: ENSMUSG00000025014
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: ENSMUST00000051806
|
SMART Domains |
Protein: ENSMUSP00000062078 Gene: ENSMUSG00000025014
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: ENSMUST00000051806
|
SMART Domains |
Protein: ENSMUSP00000062078 Gene: ENSMUSG00000025014
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
|
SMART Domains |
Protein: ENSMUSP00000107819 Gene: ENSMUSG00000025014
Domain | Start | End | E-Value | Type |
BRCT
|
29 |
114 |
3.05e-9 |
SMART |
POLXc
|
163 |
509 |
1.19e-198 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112200
|
SMART Domains |
Protein: ENSMUSP00000107819 Gene: ENSMUSG00000025014
Domain | Start | End | E-Value | Type |
BRCT
|
29 |
114 |
3.05e-9 |
SMART |
POLXc
|
163 |
509 |
1.19e-198 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112200
|
SMART Domains |
Protein: ENSMUSP00000107819 Gene: ENSMUSG00000025014
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
A |
G |
5: 64,055,459 (GRCm39) |
E65G |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,756,431 (GRCm39) |
R1425C |
probably damaging |
Het |
Adcy3 |
A |
T |
12: 4,259,407 (GRCm39) |
|
probably null |
Het |
AI661453 |
T |
G |
17: 47,778,263 (GRCm39) |
|
probably benign |
Het |
Arhgef10 |
A |
T |
8: 15,004,819 (GRCm39) |
Y445F |
probably benign |
Het |
Atrx |
G |
T |
X: 104,874,587 (GRCm39) |
S1924R |
possibly damaging |
Het |
Clca3a1 |
T |
C |
3: 144,733,763 (GRCm39) |
T58A |
possibly damaging |
Het |
Clec1b |
A |
G |
6: 129,378,804 (GRCm39) |
Y97C |
probably damaging |
Het |
Cobll1 |
A |
G |
2: 64,928,084 (GRCm39) |
S1080P |
probably damaging |
Het |
Crb1 |
C |
A |
1: 139,176,213 (GRCm39) |
C529F |
probably damaging |
Het |
Crim1 |
C |
T |
17: 78,642,763 (GRCm39) |
R494* |
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,938,257 (GRCm39) |
|
probably benign |
Het |
Gjb1 |
T |
C |
X: 100,428,611 (GRCm39) |
C280R |
probably damaging |
Het |
Glp1r |
T |
A |
17: 31,143,485 (GRCm39) |
C174S |
probably damaging |
Het |
Gm5414 |
A |
T |
15: 101,536,269 (GRCm39) |
Y119N |
probably benign |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Gm9796 |
G |
T |
11: 95,588,756 (GRCm39) |
|
noncoding transcript |
Het |
Gm9956 |
T |
C |
10: 56,621,388 (GRCm39) |
F17L |
unknown |
Het |
Il1rap |
A |
T |
16: 26,529,366 (GRCm39) |
D396V |
probably damaging |
Het |
Impa1 |
T |
C |
3: 10,388,018 (GRCm39) |
K135E |
possibly damaging |
Het |
Iqub |
G |
A |
6: 24,449,810 (GRCm39) |
A685V |
probably damaging |
Het |
Jade3 |
T |
C |
X: 20,379,063 (GRCm39) |
V512A |
probably benign |
Het |
Kif3a |
C |
A |
11: 53,461,525 (GRCm39) |
P57T |
probably damaging |
Het |
Kndc1 |
G |
T |
7: 139,501,829 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Maged2 |
G |
T |
X: 149,592,755 (GRCm39) |
D343E |
probably benign |
Het |
Magi2 |
T |
C |
5: 19,883,707 (GRCm39) |
S120P |
probably damaging |
Het |
Nxph3 |
A |
T |
11: 95,401,656 (GRCm39) |
*253R |
probably null |
Het |
Oog2 |
A |
T |
4: 143,921,618 (GRCm39) |
H194L |
probably damaging |
Het |
Pcbd2 |
T |
G |
13: 55,880,764 (GRCm39) |
W7G |
probably benign |
Het |
Pcdhb14 |
T |
G |
18: 37,582,823 (GRCm39) |
L643R |
possibly damaging |
Het |
Plch1 |
G |
T |
3: 63,605,177 (GRCm39) |
|
probably null |
Het |
Poln |
G |
T |
5: 34,270,666 (GRCm39) |
S455* |
probably null |
Het |
Ppp2r1a |
T |
C |
17: 21,171,596 (GRCm39) |
|
probably benign |
Het |
Rsu1 |
T |
G |
2: 13,082,308 (GRCm39) |
|
probably benign |
Het |
Serpina10 |
A |
T |
12: 103,583,202 (GRCm39) |
M360K |
possibly damaging |
Het |
Sox30 |
A |
T |
11: 45,871,951 (GRCm39) |
K269* |
probably null |
Het |
Thbs1 |
T |
C |
2: 117,945,451 (GRCm39) |
V310A |
probably benign |
Het |
Tie1 |
C |
A |
4: 118,343,760 (GRCm39) |
E61* |
probably null |
Het |
Tm2d1 |
G |
T |
4: 98,268,911 (GRCm39) |
P62Q |
probably damaging |
Het |
Tpp1 |
G |
T |
7: 105,398,826 (GRCm39) |
P201Q |
probably damaging |
Het |
Trim13 |
A |
G |
14: 61,842,598 (GRCm39) |
E205G |
probably damaging |
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 |
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 |
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 |
2015-04-16 |