Incidental Mutation 'R6066:Tatdn3'
| ID |
484030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tatdn3
|
| Ensembl Gene |
ENSMUSG00000026632 |
| Gene Name |
TatD DNase domain containing 3 |
| Synonyms |
1500010M24Rik |
| MMRRC Submission |
044230-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6066 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
190778023-190795129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 190778465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 242
(V242E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027945]
[ENSMUST00000077889]
[ENSMUST00000085633]
[ENSMUST00000110891]
[ENSMUST00000110893]
[ENSMUST00000192151]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027945
AA Change: V241E
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027945
Gene: ENSMUSG00000026632
AA Change: V241E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TatD_DNase
|
6 |
263 |
5e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085633
|
| SMART Domains |
Protein: ENSMUSP00000082773
Gene: ENSMUSG00000026632
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TatD_DNase
|
6 |
170 |
1.1e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110891
|
| SMART Domains |
Protein: ENSMUSP00000106516
Gene: ENSMUSG00000026632
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TatD_DNase
|
6 |
231 |
2.3e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110893
AA Change: V242E
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106518
Gene: ENSMUSG00000026632
AA Change: V242E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TatD_DNase
|
6 |
264 |
1.8e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156341
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192151
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,412,308 (GRCm39) |
F429S |
probably damaging |
Het |
| Ahi1 |
A |
T |
10: 20,835,825 (GRCm39) |
M53L |
possibly damaging |
Het |
| Ahr |
A |
T |
12: 35,554,920 (GRCm39) |
F400I |
probably damaging |
Het |
| Ak7 |
G |
T |
12: 105,699,750 (GRCm39) |
G223V |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,726,698 (GRCm39) |
I128V |
possibly damaging |
Het |
| Ampd3 |
A |
T |
7: 110,392,974 (GRCm39) |
E247D |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Arhgef10l |
A |
G |
4: 140,304,391 (GRCm39) |
F243L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,269,537 (GRCm39) |
V661E |
probably damaging |
Het |
| Cox8c |
A |
G |
12: 102,866,534 (GRCm39) |
T53A |
probably benign |
Het |
| Creld2 |
C |
A |
15: 88,707,969 (GRCm39) |
T236K |
possibly damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,476 (GRCm39) |
C250S |
probably benign |
Het |
| Dhx37 |
A |
C |
5: 125,501,730 (GRCm39) |
F510V |
probably benign |
Het |
| Fblim1 |
T |
C |
4: 141,305,220 (GRCm39) |
D350G |
probably damaging |
Het |
| Lipm |
A |
G |
19: 34,090,374 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,768,049 (GRCm39) |
F348S |
probably benign |
Het |
| Misp |
A |
G |
10: 79,662,146 (GRCm39) |
R188G |
possibly damaging |
Het |
| Nbeal1 |
T |
G |
1: 60,287,564 (GRCm39) |
I936S |
probably benign |
Het |
| Ngly1 |
G |
A |
14: 16,294,634 (GRCm38) |
M521I |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,257,510 (GRCm39) |
Y376F |
probably benign |
Het |
| Oas3 |
T |
C |
5: 120,910,989 (GRCm39) |
K197R |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,511,276 (GRCm39) |
Y353H |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,822,828 (GRCm39) |
N625D |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,391,525 (GRCm39) |
S1530R |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,799,740 (GRCm39) |
P457L |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,831,258 (GRCm39) |
S565P |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,726,301 (GRCm39) |
M163V |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,171 (GRCm39) |
T2890A |
unknown |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,864 (GRCm39) |
M38L |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,258,573 (GRCm39) |
F524L |
possibly damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,695 (GRCm39) |
S239P |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,919,778 (GRCm39) |
D679G |
probably null |
Het |
| Zbtb42 |
C |
A |
12: 112,646,041 (GRCm39) |
T72K |
probably damaging |
Het |
| Zfp493 |
G |
A |
13: 67,935,069 (GRCm39) |
A341T |
possibly damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,801 (GRCm39) |
C80R |
possibly damaging |
Het |
|
| Other mutations in Tatdn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01383:Tatdn3
|
APN |
1 |
190,787,578 (GRCm39) |
splice site |
probably benign |
|
|
IGL02819:Tatdn3
|
APN |
1 |
190,787,541 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02898:Tatdn3
|
APN |
1 |
190,778,507 (GRCm39) |
makesense |
probably null |
|
|
R0718:Tatdn3
|
UTSW |
1 |
190,785,046 (GRCm39) |
splice site |
probably benign |
|
|
R0892:Tatdn3
|
UTSW |
1 |
190,795,002 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1635:Tatdn3
|
UTSW |
1 |
190,792,373 (GRCm39) |
missense |
probably benign |
|
|
R2018:Tatdn3
|
UTSW |
1 |
190,781,477 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2088:Tatdn3
|
UTSW |
1 |
190,785,073 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2243:Tatdn3
|
UTSW |
1 |
190,785,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3933:Tatdn3
|
UTSW |
1 |
190,778,521 (GRCm39) |
splice site |
probably null |
|
|
R4676:Tatdn3
|
UTSW |
1 |
190,781,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5047:Tatdn3
|
UTSW |
1 |
190,778,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5923:Tatdn3
|
UTSW |
1 |
190,781,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Tatdn3
|
UTSW |
1 |
190,788,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7770:Tatdn3
|
UTSW |
1 |
190,791,053 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8331:Tatdn3
|
UTSW |
1 |
190,778,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGCCACTAAAGCAAGCC -3'
(R):5'- GCCCATACCTGCCAAGTTCATC -3'
Sequencing Primer
(F):5'- CCTTGCTTTCCCCAGCG -3'
(R):5'- GGAATGTCAGCTCCTTCATAGAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation