Incidental Mutation 'R1577:Dntt'
| ID |
171252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dntt
|
| Ensembl Gene |
ENSMUSG00000025014 |
| Gene Name |
deoxynucleotidyltransferase, terminal |
| Synonyms |
Tdt |
| MMRRC Submission |
039615-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1577 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41017714-41047964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41044224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 463
(Y463C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051806]
[ENSMUST00000112200]
|
| AlphaFold |
P09838 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051806
AA Change: Y463C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014
AA Change: Y463C
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
29 |
114 |
3.05e-9 |
SMART |
|
POLXc
|
163 |
529 |
5.68e-196 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112200
AA Change: Y463C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014
AA Change: Y463C
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
29 |
114 |
3.05e-9 |
SMART |
|
POLXc
|
163 |
509 |
1.19e-198 |
SMART |
|
| Meta Mutation Damage Score |
0.4026 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.3%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,264 (GRCm39) |
N404S |
possibly damaging |
Het |
| Cep85 |
T |
C |
4: 133,879,599 (GRCm39) |
E383G |
probably damaging |
Het |
| Chst4 |
A |
T |
8: 110,756,476 (GRCm39) |
H379Q |
probably benign |
Het |
| Clca3b |
A |
T |
3: 144,529,280 (GRCm39) |
I798N |
probably damaging |
Het |
| Cldnd1 |
T |
G |
16: 58,553,016 (GRCm39) |
L159R |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,906,104 (GRCm39) |
E834G |
probably damaging |
Het |
| Col2a1 |
C |
T |
15: 97,877,083 (GRCm39) |
R1065Q |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,415,162 (GRCm39) |
D674G |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,819,241 (GRCm39) |
E257G |
probably benign |
Het |
| Eif4b |
C |
T |
15: 101,998,336 (GRCm39) |
R339* |
probably null |
Het |
| Fat1 |
C |
T |
8: 45,476,420 (GRCm39) |
T1822M |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,435,413 (GRCm39) |
N282D |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,631,269 (GRCm39) |
M233V |
possibly damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,684,319 (GRCm39) |
M652L |
probably benign |
Het |
| Gal3st2c |
G |
A |
1: 93,934,650 (GRCm39) |
V13M |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,599,240 (GRCm39) |
G686D |
probably damaging |
Het |
| Gdap1l1 |
T |
G |
2: 163,280,524 (GRCm39) |
L20R |
probably damaging |
Het |
| Gm5800 |
A |
T |
14: 51,952,016 (GRCm39) |
M82K |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,753,972 (GRCm39) |
C759S |
probably damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,393 (GRCm39) |
D83E |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,263,250 (GRCm39) |
D39G |
probably damaging |
Het |
| Ldhb |
C |
A |
6: 142,438,324 (GRCm39) |
K244N |
possibly damaging |
Het |
| Lypd6 |
C |
T |
2: 50,080,710 (GRCm39) |
R133* |
probably null |
Het |
| Med13l |
G |
A |
5: 118,859,457 (GRCm39) |
G215S |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,345,196 (GRCm39) |
D606G |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,079 (GRCm39) |
T151M |
probably damaging |
Het |
| Or10q3 |
T |
C |
19: 11,847,741 (GRCm39) |
T280A |
probably damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,217 (GRCm39) |
K269R |
probably benign |
Het |
| Or2at4 |
T |
C |
7: 99,384,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Or2t26 |
T |
A |
11: 49,040,016 (GRCm39) |
C311S |
probably benign |
Het |
| Or5aq1b |
T |
C |
2: 86,901,741 (GRCm39) |
T246A |
probably benign |
Het |
| Ppm1l |
G |
A |
3: 69,460,403 (GRCm39) |
G327R |
probably damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,558,911 (GRCm39) |
A282V |
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,771,367 (GRCm39) |
V464A |
probably damaging |
Het |
| Rprd2 |
C |
T |
3: 95,672,047 (GRCm39) |
E1119K |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,219,001 (GRCm39) |
T112I |
probably benign |
Het |
| Skint6 |
T |
C |
4: 113,005,720 (GRCm39) |
T363A |
possibly damaging |
Het |
| Slc22a16 |
G |
T |
10: 40,479,811 (GRCm39) |
E607* |
probably null |
Het |
| Slc24a2 |
T |
C |
4: 86,909,648 (GRCm39) |
Y690C |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,354,306 (GRCm39) |
S115G |
probably benign |
Het |
| Slc4a3 |
T |
C |
1: 75,527,535 (GRCm39) |
L168P |
probably damaging |
Het |
| Spats2 |
T |
A |
15: 99,076,333 (GRCm39) |
I137N |
possibly damaging |
Het |
| Stard4 |
A |
T |
18: 33,338,151 (GRCm39) |
V133D |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,284,728 (GRCm39) |
|
probably null |
Het |
| Tfpi |
A |
G |
2: 84,263,447 (GRCm39) |
I305T |
probably damaging |
Het |
| Tmtc1 |
T |
A |
6: 148,314,318 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
C |
5: 120,682,485 (GRCm39) |
W508G |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,030,974 (GRCm39) |
N406K |
possibly damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,265,052 (GRCm39) |
L118* |
probably null |
Het |
| Zbtb5 |
T |
C |
4: 44,995,129 (GRCm39) |
Y85C |
probably damaging |
Het |
| Zfand4 |
C |
A |
6: 116,306,373 (GRCm39) |
Y735* |
probably null |
Het |
| Zfp180 |
G |
T |
7: 23,805,333 (GRCm39) |
C584F |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGCCAATCAGCTTCTTGTTCAC -3'
(R):5'- TAGGAAAGAACTGGCTCCCCTGAC -3'
Sequencing Primer
(F):5'- gcttcttgttcacattgagtttctg -3'
(R):5'- ggctcccctgacctctac -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation