Incidental Mutation 'IGL01859:Dntt'
| ID |
178261 |
| 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 # |
IGL01859
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
41017714-41047964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 41025743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 120
(M120I)
|
| 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: M120I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014
AA Change: M120I
| 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: M120I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014
AA Change: M120I
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,963,336 (GRCm39) |
|
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,711,556 (GRCm39) |
M398V |
probably null |
Het |
| Angptl3 |
C |
T |
4: 98,925,669 (GRCm39) |
R332* |
probably null |
Het |
| Ano7 |
A |
G |
1: 93,322,168 (GRCm39) |
Y392C |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,060,540 (GRCm39) |
F18L |
probably damaging |
Het |
| Cdc23 |
G |
T |
18: 34,784,459 (GRCm39) |
P73Q |
probably benign |
Het |
| Cdkl1 |
A |
C |
12: 69,806,903 (GRCm39) |
L111R |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 46,965,655 (GRCm39) |
D822G |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,808,160 (GRCm39) |
R963* |
probably null |
Het |
| Crocc |
T |
C |
4: 140,756,601 (GRCm39) |
D1008G |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,678,890 (GRCm39) |
Y1003C |
possibly damaging |
Het |
| Fam178b |
T |
A |
1: 36,698,446 (GRCm39) |
R92W |
probably damaging |
Het |
| Fermt2 |
A |
G |
14: 45,697,413 (GRCm39) |
V646A |
possibly damaging |
Het |
| Foxc1 |
T |
C |
13: 31,992,706 (GRCm39) |
S506P |
unknown |
Het |
| Gtpbp1 |
T |
A |
15: 79,603,341 (GRCm39) |
V610E |
probably benign |
Het |
| H2-T15 |
A |
T |
17: 36,368,903 (GRCm39) |
M59K |
possibly damaging |
Het |
| Hsdl2 |
T |
C |
4: 59,601,569 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
T |
A |
12: 119,153,680 (GRCm39) |
R278S |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,552,132 (GRCm39) |
D953V |
probably benign |
Het |
| Med13 |
A |
T |
11: 86,174,577 (GRCm39) |
D1749E |
possibly damaging |
Het |
| Mocos |
G |
T |
18: 24,799,717 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
T |
G |
18: 37,637,616 (GRCm39) |
N47K |
probably damaging |
Het |
| Phf21a |
T |
A |
2: 92,158,701 (GRCm39) |
F227L |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,225,915 (GRCm39) |
E907G |
probably benign |
Het |
| Pla2g4e |
G |
T |
2: 120,013,214 (GRCm39) |
Q369K |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,559,517 (GRCm39) |
I413T |
probably damaging |
Het |
| Ptgis |
A |
G |
2: 167,056,726 (GRCm39) |
|
probably null |
Het |
| Rasgrp1 |
A |
G |
2: 117,119,899 (GRCm39) |
V452A |
probably benign |
Het |
| Rbms3 |
T |
A |
9: 116,788,606 (GRCm39) |
D105V |
probably damaging |
Het |
| Rnase1 |
C |
A |
14: 51,383,260 (GRCm39) |
Q31H |
probably benign |
Het |
| Rnase13 |
G |
T |
14: 52,159,760 (GRCm39) |
N126K |
probably damaging |
Het |
| Sema5b |
G |
T |
16: 35,467,479 (GRCm39) |
V248L |
possibly damaging |
Het |
| Serpinb12 |
G |
A |
1: 106,881,564 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
A |
T |
2: 130,526,914 (GRCm39) |
L738Q |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,001,938 (GRCm39) |
I23F |
probably damaging |
Het |
| Stk-ps2 |
A |
T |
1: 46,069,202 (GRCm39) |
|
noncoding transcript |
Het |
| Tcp1 |
A |
G |
17: 13,141,571 (GRCm39) |
E350G |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,518,980 (GRCm39) |
K518E |
probably damaging |
Het |
| Trim34a |
A |
G |
7: 103,910,149 (GRCm39) |
E317G |
probably damaging |
Het |
| Trit1 |
A |
G |
4: 122,943,344 (GRCm39) |
S335G |
probably benign |
Het |
| Usp28 |
G |
T |
9: 48,935,321 (GRCm39) |
E91* |
probably null |
Het |
| Vmn2r56 |
A |
G |
7: 12,449,932 (GRCm39) |
L102P |
probably damaging |
Het |
| Wwtr1 |
A |
C |
3: 57,384,938 (GRCm39) |
L203R |
possibly damaging |
Het |
| Zfp110 |
T |
C |
7: 12,583,467 (GRCm39) |
V705A |
possibly damaging |
Het |
| Zfp955a |
T |
C |
17: 33,462,693 (GRCm39) |
N67S |
probably benign |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation