Incidental Mutation 'R6532:Tdrd3'
| ID |
522446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd3
|
| Ensembl Gene |
ENSMUSG00000022019 |
| Gene Name |
tudor domain containing 3 |
| Synonyms |
4732418C03Rik |
| MMRRC Submission |
044658-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R6532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
87654075-87782940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87743252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 400
(E400G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168275]
[ENSMUST00000169504]
[ENSMUST00000170865]
|
| AlphaFold |
Q91W18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168275
AA Change: E400G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: E400G
| 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 |
probably damaging
Transcript: ENSMUST00000169504
AA Change: E400G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: E400G
| 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: ENSMUST00000170865
AA Change: E394G
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: E394G
| 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 |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
100% (34/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,626,803 (GRCm39) |
L1418P |
probably damaging |
Het |
| Adal |
A |
G |
2: 120,976,604 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,790,461 (GRCm39) |
N1600K |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,463,813 (GRCm39) |
T631A |
probably benign |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Ear1 |
C |
T |
14: 44,056,709 (GRCm39) |
R53H |
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,685,684 (GRCm39) |
V132A |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,520,921 (GRCm39) |
R301Q |
probably benign |
Het |
| Garnl3 |
A |
T |
2: 32,921,131 (GRCm39) |
M298K |
possibly damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,729,738 (GRCm39) |
D619G |
probably benign |
Het |
| Haspin |
A |
T |
11: 73,028,377 (GRCm39) |
C237* |
probably null |
Het |
| Hook1 |
T |
G |
4: 95,907,993 (GRCm39) |
|
probably null |
Het |
| Hoxa7 |
A |
G |
6: 52,194,295 (GRCm39) |
F31L |
probably benign |
Het |
| Hoxb7 |
C |
A |
11: 96,177,714 (GRCm39) |
S54* |
probably null |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
A |
G |
1: 173,557,211 (GRCm39) |
V516A |
possibly damaging |
Het |
| Inca1 |
T |
C |
11: 70,586,733 (GRCm39) |
M1V |
probably null |
Het |
| Kcnt2 |
A |
G |
1: 140,511,844 (GRCm39) |
T933A |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,924,073 (GRCm39) |
D494N |
possibly damaging |
Het |
| Lrp1 |
A |
C |
10: 127,377,551 (GRCm39) |
H4133Q |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,385,276 (GRCm39) |
F3542L |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,794,820 (GRCm39) |
D20G |
probably damaging |
Het |
| Nlk |
G |
T |
11: 78,586,881 (GRCm39) |
A71E |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,971,708 (GRCm39) |
|
probably null |
Het |
| Or9m1 |
A |
T |
2: 87,733,546 (GRCm39) |
I158N |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,855,174 (GRCm39) |
F168L |
probably benign |
Het |
| Pcnx1 |
C |
A |
12: 82,027,738 (GRCm39) |
H1601N |
probably damaging |
Het |
| Pnkp |
T |
A |
7: 44,506,829 (GRCm39) |
M1K |
probably null |
Het |
| Skic2 |
G |
A |
17: 35,063,719 (GRCm39) |
R575C |
probably damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,019,368 (GRCm39) |
Y324C |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,614,607 (GRCm39) |
I230T |
possibly damaging |
Het |
| Wfdc2 |
A |
G |
2: 164,405,296 (GRCm39) |
T50A |
probably benign |
Het |
| Zfp563 |
A |
G |
17: 33,324,672 (GRCm39) |
I422M |
probably benign |
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 |
|
IGL01339:Tdrd3
|
APN |
14 |
87,718,230 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTAGAACTCAGAGGATGCTG -3'
(R):5'- CAGAACCTGAGGAACTACTCGG -3'
Sequencing Primer
(F):5'- AAAGTATGGAGATAGGAGATGTTACC -3'
(R):5'- TGAGGAACTACTCGGCCTTTCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation