Incidental Mutation 'IGL02898:Tatdn3'
| ID |
363482 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tatdn3
|
| Ensembl Gene |
ENSMUSG00000026632 |
| Gene Name |
TatD DNase domain containing 3 |
| Synonyms |
1500010M24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
190778023-190795129 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 190778507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 233
(*233W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027945]
[ENSMUST00000077889]
[ENSMUST00000085633]
[ENSMUST00000110891]
[ENSMUST00000110893]
[ENSMUST00000192151]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027945
AA Change: E227G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027945
Gene: ENSMUSG00000026632
AA Change: E227G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TatD_DNase
|
6 |
263 |
5e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077889
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000085633
AA Change: *190W
|
| SMART Domains |
Protein: ENSMUSP00000082773
Gene: ENSMUSG00000026632
AA Change: *190W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TatD_DNase
|
6 |
170 |
1.1e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110891
AA Change: *233W
|
| SMART Domains |
Protein: ENSMUSP00000106516
Gene: ENSMUSG00000026632
AA Change: *233W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TatD_DNase
|
6 |
231 |
2.3e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110893
AA Change: E228G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106518
Gene: ENSMUSG00000026632
AA Change: E228G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,178,065 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
A |
G |
2: 27,349,753 (GRCm39) |
S267P |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,946,468 (GRCm39) |
T425A |
probably benign |
Het |
| Caskin1 |
A |
T |
17: 24,721,383 (GRCm39) |
E544D |
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,630,905 (GRCm39) |
Q58* |
probably null |
Het |
| Eif2ak1 |
G |
A |
5: 143,826,270 (GRCm39) |
V428I |
probably damaging |
Het |
| Fez2 |
A |
G |
17: 78,692,184 (GRCm39) |
I345T |
probably benign |
Het |
| Focad |
A |
T |
4: 88,310,234 (GRCm39) |
M1388L |
probably benign |
Het |
| Gfer |
T |
C |
17: 24,914,921 (GRCm39) |
R41G |
probably benign |
Het |
| Gm9956 |
C |
T |
10: 56,621,350 (GRCm39) |
S4L |
unknown |
Het |
| Krtap6-1 |
G |
A |
16: 88,828,643 (GRCm39) |
G13D |
unknown |
Het |
| Megf8 |
A |
G |
7: 25,045,933 (GRCm39) |
E1492G |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,221,197 (GRCm39) |
I909V |
probably damaging |
Het |
| Or11g25 |
T |
A |
14: 50,723,643 (GRCm39) |
S243T |
probably damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,561 (GRCm39) |
H159L |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,959,562 (GRCm39) |
E717G |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,527,605 (GRCm39) |
I319M |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,583 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
T |
A |
3: 95,899,493 (GRCm39) |
H100L |
probably damaging |
Het |
| Prr30 |
T |
G |
14: 101,435,917 (GRCm39) |
D215A |
probably benign |
Het |
| Prss52 |
C |
T |
14: 64,351,115 (GRCm39) |
A300V |
possibly damaging |
Het |
| Ralgps2 |
C |
A |
1: 156,645,314 (GRCm39) |
K514N |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,472 (GRCm39) |
I463T |
probably damaging |
Het |
| Sars1 |
A |
T |
3: 108,336,579 (GRCm39) |
F268Y |
probably damaging |
Het |
| Sidt1 |
C |
T |
16: 44,102,858 (GRCm39) |
R289Q |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,940,023 (GRCm39) |
Y140F |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,956,805 (GRCm39) |
V539A |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,058,676 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,008,702 (GRCm39) |
D1944G |
probably benign |
Het |
| Spata1 |
C |
T |
3: 146,181,094 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,220,285 (GRCm39) |
V536E |
probably damaging |
Het |
| V1rd19 |
A |
C |
7: 23,702,854 (GRCm39) |
T107P |
probably 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 |
|
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 |
|
|
R6066:Tatdn3
|
UTSW |
1 |
190,778,465 (GRCm39) |
missense |
probably benign |
0.24 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation