Incidental Mutation 'R1099:Tdrd3'
| ID |
97975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd3
|
| Ensembl Gene |
ENSMUSG00000022019 |
| Gene Name |
tudor domain containing 3 |
| Synonyms |
4732418C03Rik |
| MMRRC Submission |
039173-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.334)
|
| Stock # |
R1099 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
87654075-87782940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87724675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 359
(T359S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126189
(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 |
probably damaging
Transcript: ENSMUST00000168275
AA Change: T365S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: T365S
| 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: T365S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: T365S
| 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: ENSMUST00000170865
AA Change: T359S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: T359S
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Abca7 |
G |
T |
10: 79,849,577 (GRCm39) |
E1921* |
probably null |
Het |
| Acnat2 |
G |
A |
4: 49,380,484 (GRCm39) |
T298I |
probably benign |
Het |
| Agbl4 |
T |
C |
4: 110,812,860 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
A |
8: 18,749,149 (GRCm39) |
T323S |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,784,810 (GRCm39) |
K299R |
probably damaging |
Het |
| Armc2 |
G |
T |
10: 41,793,183 (GRCm39) |
Q814K |
probably benign |
Het |
| Atp9b |
A |
C |
18: 80,901,841 (GRCm39) |
I263S |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,599,478 (GRCm39) |
I276T |
probably damaging |
Het |
| Casp12 |
T |
A |
9: 5,352,204 (GRCm39) |
H135Q |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,914,225 (GRCm39) |
I621V |
probably benign |
Het |
| Cd160 |
G |
A |
3: 96,713,156 (GRCm39) |
A36V |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,954,153 (GRCm39) |
C315S |
probably damaging |
Het |
| Egflam |
A |
G |
15: 7,281,903 (GRCm39) |
V411A |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,084,634 (GRCm39) |
|
probably null |
Het |
| Fam171a1 |
T |
A |
2: 3,226,354 (GRCm39) |
S371T |
probably benign |
Het |
| Hspbap1 |
T |
G |
16: 35,645,314 (GRCm39) |
F333C |
probably damaging |
Het |
| Ky |
G |
C |
9: 102,414,923 (GRCm39) |
W278C |
probably damaging |
Het |
| Lrig3 |
T |
A |
10: 125,842,883 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
A |
T |
4: 132,974,439 (GRCm39) |
S580C |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,254,790 (GRCm39) |
T219A |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,148,156 (GRCm39) |
I789V |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,709,727 (GRCm39) |
|
probably null |
Het |
| Nos1 |
A |
G |
5: 118,061,460 (GRCm39) |
T929A |
probably damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,558 (GRCm39) |
F237S |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,503 (GRCm39) |
S300T |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,716,874 (GRCm39) |
N541S |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,373,173 (GRCm39) |
S2321P |
probably damaging |
Het |
| Prdm8 |
T |
G |
5: 98,331,361 (GRCm39) |
I71S |
probably damaging |
Het |
| Prkg1 |
A |
C |
19: 30,549,012 (GRCm39) |
S654R |
probably benign |
Het |
| Psmf1 |
A |
T |
2: 151,560,590 (GRCm39) |
H260Q |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,422,513 (GRCm39) |
I179N |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,132,867 (GRCm39) |
K1681E |
probably benign |
Het |
| Rtn1 |
A |
T |
12: 72,351,241 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
T |
A |
16: 90,059,986 (GRCm39) |
I37F |
unknown |
Het |
| Sema4c |
A |
G |
1: 36,591,191 (GRCm39) |
S383P |
probably damaging |
Het |
| Shc4 |
G |
T |
2: 125,564,764 (GRCm39) |
D178E |
probably benign |
Het |
| Slc2a5 |
A |
G |
4: 150,226,636 (GRCm39) |
N366S |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,715,760 (GRCm39) |
N465S |
probably benign |
Het |
| Tbc1d9b |
C |
A |
11: 50,037,135 (GRCm39) |
D261E |
probably benign |
Het |
| Thap3 |
T |
C |
4: 152,067,788 (GRCm39) |
M97V |
probably benign |
Het |
| Thg1l |
T |
A |
11: 45,844,988 (GRCm39) |
Q88L |
possibly damaging |
Het |
| Tjp3 |
T |
C |
10: 81,109,657 (GRCm39) |
T849A |
probably benign |
Het |
| Tomm70a |
G |
T |
16: 56,963,180 (GRCm39) |
D400Y |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,961,000 (GRCm39) |
I177V |
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,074,661 (GRCm39) |
I533M |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,380,545 (GRCm39) |
Y2285N |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,596,836 (GRCm39) |
P3859S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCGGTGAGAAGAAATATCTGTACGTT -3'
(R):5'- GCCTTTGTTCTCAGAATGCAACATCAA -3'
Sequencing Primer
(F):5'- CTGTACGTTAGCTACAAGGTTGC -3'
(R):5'- GTTTTGGCGACATGAAATTCAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation