Incidental Mutation 'IGL01339:Tdrd3'
| ID |
74754 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tdrd3
|
| Ensembl Gene |
ENSMUSG00000022019 |
| Gene Name |
tudor domain containing 3 |
| Synonyms |
4732418C03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.334)
|
| Stock # |
IGL01339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
87654075-87782940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87718230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 210
(V210I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163714]
[ENSMUST00000168275]
[ENSMUST00000169504]
[ENSMUST00000170865]
|
| AlphaFold |
Q91W18 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163714
|
| SMART Domains |
Protein: ENSMUSP00000128074
Gene: ENSMUSG00000022019
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3NBI|A
|
1 |
74 |
2e-10 |
PDB |
|
low complexity region
|
176 |
187 |
N/A |
INTRINSIC |
|
UBA
|
195 |
232 |
1.67e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168275
AA Change: V210I
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: V210I
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1767
|
6 |
88 |
4.85e-24 |
SMART |
|
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
|
UBA
|
288 |
325 |
1.67e-7 |
SMART |
|
low complexity region
|
338 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
460 |
N/A |
INTRINSIC |
|
TUDOR
|
646 |
705 |
1.07e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169504
AA Change: V210I
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: V210I
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1767
|
6 |
88 |
4.85e-24 |
SMART |
|
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
|
UBA
|
288 |
325 |
1.67e-7 |
SMART |
|
low complexity region
|
338 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
460 |
N/A |
INTRINSIC |
|
TUDOR
|
646 |
705 |
1.07e-7 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170712
AA Change: V198I
|
| SMART Domains |
Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: V198I
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1767
|
19 |
77 |
4.37e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170865
AA Change: V204I
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: V204I
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1767
|
3 |
82 |
1.36e-18 |
SMART |
|
low complexity region
|
263 |
274 |
N/A |
INTRINSIC |
|
UBA
|
282 |
319 |
1.67e-7 |
SMART |
|
low complexity region
|
332 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
454 |
N/A |
INTRINSIC |
|
TUDOR
|
640 |
699 |
1.07e-7 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice for a hypomorphic allele show increased genomic instability, and increased c-Myc/Igh translocation and R loop formation in B cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bahcc1 |
A |
G |
11: 120,180,338 (GRCm39) |
T2565A |
probably damaging |
Het |
| C8a |
A |
C |
4: 104,685,182 (GRCm39) |
F354V |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,486,543 (GRCm38) |
V876M |
possibly damaging |
Het |
| Chmp7 |
A |
T |
14: 69,956,855 (GRCm39) |
I351N |
probably damaging |
Het |
| Clec7a |
A |
T |
6: 129,442,449 (GRCm39) |
W193R |
probably damaging |
Het |
| Clint1 |
T |
C |
11: 45,799,846 (GRCm39) |
V535A |
probably benign |
Het |
| Clu |
A |
G |
14: 66,213,037 (GRCm39) |
E141G |
probably damaging |
Het |
| Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
| Cntn2 |
A |
T |
1: 132,446,643 (GRCm39) |
|
probably null |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,288,042 (GRCm39) |
A195T |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,854,276 (GRCm39) |
K1901N |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,748,591 (GRCm39) |
Y841C |
probably benign |
Het |
| Dop1a |
G |
A |
9: 86,433,730 (GRCm39) |
D2329N |
possibly damaging |
Het |
| Eipr1 |
A |
G |
12: 28,914,770 (GRCm39) |
E308G |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,282,335 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,246,442 (GRCm39) |
T487A |
possibly damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,816 (GRCm39) |
E98G |
probably damaging |
Het |
| Folh1 |
G |
A |
7: 86,375,306 (GRCm39) |
T527I |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,227,867 (GRCm39) |
D217N |
probably damaging |
Het |
| Gm6994 |
A |
G |
14: 77,718,618 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
T |
3: 62,511,718 (GRCm39) |
W94R |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,373,842 (GRCm39) |
D259G |
possibly damaging |
Het |
| Hcn2 |
T |
C |
10: 79,564,902 (GRCm39) |
L438P |
probably damaging |
Het |
| Hgd |
A |
C |
16: 37,452,092 (GRCm39) |
T374P |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,322,463 (GRCm39) |
|
probably null |
Het |
| Kctd5 |
A |
T |
17: 24,276,749 (GRCm39) |
V172E |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,388,763 (GRCm39) |
S2221P |
unknown |
Het |
| Ltk |
T |
A |
2: 119,583,455 (GRCm39) |
D310V |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,270,087 (GRCm39) |
M770K |
probably damaging |
Het |
| Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
| Mzb1 |
T |
A |
18: 35,781,399 (GRCm39) |
H71L |
probably benign |
Het |
| Necap2 |
G |
A |
4: 140,802,276 (GRCm39) |
T63I |
probably benign |
Het |
| Nefl |
A |
G |
14: 68,323,931 (GRCm39) |
|
probably benign |
Het |
| Odam |
G |
A |
5: 88,033,755 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
A |
G |
3: 49,710,247 (GRCm39) |
I356T |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
| Pde2a |
T |
C |
7: 101,156,366 (GRCm39) |
S593P |
probably benign |
Het |
| Rapgef3 |
A |
T |
15: 97,655,940 (GRCm39) |
L359M |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,501,811 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
A |
G |
1: 91,096,686 (GRCm39) |
I976V |
probably benign |
Het |
| Rdh13 |
A |
T |
7: 4,430,623 (GRCm39) |
S278R |
probably damaging |
Het |
| Rgma |
A |
G |
7: 73,067,231 (GRCm39) |
E256G |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,303 (GRCm39) |
D402E |
probably benign |
Het |
| Rnps1 |
T |
A |
17: 24,641,273 (GRCm39) |
D224E |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,451,832 (GRCm39) |
V1364M |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,156,304 (GRCm39) |
R535H |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,930,082 (GRCm39) |
D1431V |
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,245,891 (GRCm39) |
L677* |
probably null |
Het |
| Slc17a8 |
T |
A |
10: 89,427,106 (GRCm39) |
I148F |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,885,975 (GRCm39) |
C98* |
probably null |
Het |
| Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
| Tcof1 |
T |
C |
18: 60,951,167 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
| Tmod4 |
G |
A |
3: 95,035,608 (GRCm39) |
R252H |
probably benign |
Het |
| Tti1 |
G |
T |
2: 157,851,050 (GRCm39) |
P63Q |
possibly damaging |
Het |
| Tuft1 |
A |
T |
3: 94,535,594 (GRCm39) |
D109E |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,957,505 (GRCm39) |
S659P |
probably damaging |
Het |
|
| Other mutations in Tdrd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Tdrd3
|
APN |
14 |
87,709,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:Tdrd3
|
APN |
14 |
87,709,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02505:Tdrd3
|
APN |
14 |
87,749,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Tdrd3
|
UTSW |
14 |
87,776,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Tdrd3
|
UTSW |
14 |
87,723,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Tdrd3
|
UTSW |
14 |
87,709,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1080:Tdrd3
|
UTSW |
14 |
87,743,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1099:Tdrd3
|
UTSW |
14 |
87,724,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1126:Tdrd3
|
UTSW |
14 |
87,718,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Tdrd3
|
UTSW |
14 |
87,695,490 (GRCm39) |
intron |
probably benign |
|
|
R1592:Tdrd3
|
UTSW |
14 |
87,743,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Tdrd3
|
UTSW |
14 |
87,723,783 (GRCm39) |
splice site |
probably null |
|
|
R2096:Tdrd3
|
UTSW |
14 |
87,743,788 (GRCm39) |
nonsense |
probably null |
|
|
R2162:Tdrd3
|
UTSW |
14 |
87,718,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3833:Tdrd3
|
UTSW |
14 |
87,718,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3947:Tdrd3
|
UTSW |
14 |
87,744,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:Tdrd3
|
UTSW |
14 |
87,723,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Tdrd3
|
UTSW |
14 |
87,709,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Tdrd3
|
UTSW |
14 |
87,743,223 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5212:Tdrd3
|
UTSW |
14 |
87,743,651 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5291:Tdrd3
|
UTSW |
14 |
87,743,234 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5318:Tdrd3
|
UTSW |
14 |
87,714,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5383:Tdrd3
|
UTSW |
14 |
87,718,227 (GRCm39) |
nonsense |
probably null |
|
|
R5718:Tdrd3
|
UTSW |
14 |
87,743,876 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6240:Tdrd3
|
UTSW |
14 |
87,743,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Tdrd3
|
UTSW |
14 |
87,743,690 (GRCm39) |
missense |
probably benign |
|
|
R6532:Tdrd3
|
UTSW |
14 |
87,743,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6850:Tdrd3
|
UTSW |
14 |
87,695,515 (GRCm39) |
intron |
probably benign |
|
|
R6958:Tdrd3
|
UTSW |
14 |
87,694,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Tdrd3
|
UTSW |
14 |
87,714,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7240:Tdrd3
|
UTSW |
14 |
87,696,239 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7565:Tdrd3
|
UTSW |
14 |
87,744,029 (GRCm39) |
nonsense |
probably null |
|
|
R7818:Tdrd3
|
UTSW |
14 |
87,709,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Tdrd3
|
UTSW |
14 |
87,709,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8108:Tdrd3
|
UTSW |
14 |
87,723,702 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8206:Tdrd3
|
UTSW |
14 |
87,749,214 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8383:Tdrd3
|
UTSW |
14 |
87,743,744 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8786:Tdrd3
|
UTSW |
14 |
87,709,637 (GRCm39) |
nonsense |
probably null |
|
|
R8985:Tdrd3
|
UTSW |
14 |
87,743,597 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9081:Tdrd3
|
UTSW |
14 |
87,743,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9520:Tdrd3
|
UTSW |
14 |
87,724,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation