Incidental Mutation 'R6850:Tdrd3'
| ID |
535615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd3
|
| Ensembl Gene |
ENSMUSG00000022019 |
| Gene Name |
tudor domain containing 3 |
| Synonyms |
4732418C03Rik |
| MMRRC Submission |
044954-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.508)
|
| Stock # |
R6850 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
87416639-87545504 bp(+) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 87458079 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168275]
[ENSMUST00000169504]
[ENSMUST00000170865]
|
| AlphaFold |
Q91W18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168275
|
| SMART Domains |
Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
| 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 benign
Transcript: ENSMUST00000169504
|
| SMART Domains |
Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: V18A
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1767
|
19 |
77 |
4.37e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170865
|
| SMART Domains |
Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,394,574 (GRCm38) |
M927V |
probably benign |
Het |
| Agr2 |
A |
G |
12: 35,995,559 (GRCm38) |
I15V |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,729,363 (GRCm38) |
I10T |
possibly damaging |
Het |
| Art5 |
A |
G |
7: 102,098,095 (GRCm38) |
V159A |
possibly damaging |
Het |
| Asz1 |
G |
A |
6: 18,108,943 (GRCm38) |
R32W |
probably benign |
Het |
| Atp8b1 |
A |
C |
18: 64,556,852 (GRCm38) |
M603R |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,092,694 (GRCm38) |
R823Q |
probably benign |
Het |
| Car9 |
A |
G |
4: 43,507,321 (GRCm38) |
E3G |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,535,231 (GRCm38) |
I267N |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,069,091 (GRCm38) |
F57I |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,201,259 (GRCm38) |
K980R |
probably damaging |
Het |
| Dnhd1 |
G |
T |
7: 105,719,930 (GRCm38) |
G4303W |
possibly damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,897,600 (GRCm38) |
N485D |
probably benign |
Het |
| Dusp4 |
A |
T |
8: 34,816,497 (GRCm38) |
K166* |
probably null |
Het |
| Ect2 |
T |
C |
3: 27,138,885 (GRCm38) |
D344G |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,579,006 (GRCm38) |
D3G |
probably benign |
Het |
| Ermp1 |
A |
G |
19: 29,616,641 (GRCm38) |
Y710H |
probably damaging |
Het |
| Gar1 |
T |
C |
3: 129,829,389 (GRCm38) |
N117S |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,119,260 (GRCm38) |
L263P |
probably damaging |
Het |
| Iqcn |
A |
T |
8: 70,710,776 (GRCm38) |
N873Y |
probably damaging |
Het |
| Itga7 |
A |
T |
10: 128,945,516 (GRCm38) |
I621F |
probably damaging |
Het |
| Kcna3 |
A |
T |
3: 107,037,159 (GRCm38) |
D246V |
probably damaging |
Het |
| Kctd12 |
C |
T |
14: 102,981,978 (GRCm38) |
G155S |
probably benign |
Het |
| Lrtm1 |
T |
C |
14: 29,027,450 (GRCm38) |
V256A |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,009,476 (GRCm38) |
F629L |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,260,956 (GRCm38) |
F999L |
probably damaging |
Het |
| Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,532,725 (GRCm38) |
|
probably benign |
Het |
| Obscn |
C |
T |
11: 59,002,129 (GRCm38) |
A6764T |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 59,068,124 (GRCm38) |
V3643M |
possibly damaging |
Het |
| Or4c102 |
T |
A |
2: 88,592,306 (GRCm38) |
C167* |
probably null |
Het |
| Or8g18 |
T |
C |
9: 39,237,975 (GRCm38) |
I150V |
probably benign |
Het |
| Pdhx |
T |
C |
2: 103,041,100 (GRCm38) |
H195R |
probably damaging |
Het |
| Pdilt |
A |
T |
7: 119,486,959 (GRCm38) |
V511E |
probably damaging |
Het |
| Prima1 |
C |
T |
12: 103,197,335 (GRCm38) |
D126N |
probably benign |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,709,061 (GRCm38) |
|
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,122,188 (GRCm38) |
D1685E |
probably benign |
Het |
| Ptgs2 |
A |
T |
1: 150,105,540 (GRCm38) |
I525F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,937,009 (GRCm38) |
F259I |
possibly damaging |
Het |
| Ranbp3l |
C |
A |
15: 9,058,727 (GRCm38) |
D216E |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,501,749 (GRCm38) |
L1240Q |
possibly damaging |
Het |
| Sohlh2 |
A |
T |
3: 55,192,286 (GRCm38) |
T160S |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,376,800 (GRCm38) |
R180G |
probably benign |
Het |
| Spata31h1 |
A |
C |
10: 82,293,054 (GRCm38) |
M1374R |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,650,002 (GRCm38) |
E294G |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,392,799 (GRCm38) |
Y187F |
probably benign |
Het |
| Tas2r144 |
T |
A |
6: 42,215,923 (GRCm38) |
M199K |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,343,838 (GRCm38) |
D1683V |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,258,535 (GRCm38) |
I2098T |
probably damaging |
Het |
| Tmie |
A |
G |
9: 110,866,912 (GRCm38) |
I137T |
possibly damaging |
Het |
| Trim45 |
T |
A |
3: 100,923,225 (GRCm38) |
L105* |
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,291,693 (GRCm38) |
G568S |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,814,598 (GRCm38) |
T390A |
probably benign |
Het |
| Wdr97 |
A |
G |
15: 76,357,796 (GRCm38) |
Y763C |
probably damaging |
Het |
| Zfp35 |
G |
A |
18: 24,002,782 (GRCm38) |
R61H |
possibly damaging |
Het |
|
| Other mutations in Tdrd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Tdrd3
|
APN |
14 |
87,472,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01339:Tdrd3
|
APN |
14 |
87,480,794 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL01565:Tdrd3
|
APN |
14 |
87,472,232 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02505:Tdrd3
|
APN |
14 |
87,511,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0121:Tdrd3
|
UTSW |
14 |
87,539,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0550:Tdrd3
|
UTSW |
14 |
87,486,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0648:Tdrd3
|
UTSW |
14 |
87,472,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1080:Tdrd3
|
UTSW |
14 |
87,506,398 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1099:Tdrd3
|
UTSW |
14 |
87,487,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1126:Tdrd3
|
UTSW |
14 |
87,480,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1370:Tdrd3
|
UTSW |
14 |
87,458,054 (GRCm38) |
intron |
probably benign |
|
|
R1592:Tdrd3
|
UTSW |
14 |
87,505,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1881:Tdrd3
|
UTSW |
14 |
87,486,347 (GRCm38) |
splice site |
probably null |
|
|
R2096:Tdrd3
|
UTSW |
14 |
87,506,352 (GRCm38) |
nonsense |
probably null |
|
|
R2162:Tdrd3
|
UTSW |
14 |
87,480,785 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3833:Tdrd3
|
UTSW |
14 |
87,480,785 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3947:Tdrd3
|
UTSW |
14 |
87,506,599 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4421:Tdrd3
|
UTSW |
14 |
87,486,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4783:Tdrd3
|
UTSW |
14 |
87,472,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4957:Tdrd3
|
UTSW |
14 |
87,505,787 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5212:Tdrd3
|
UTSW |
14 |
87,506,215 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5291:Tdrd3
|
UTSW |
14 |
87,505,798 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5318:Tdrd3
|
UTSW |
14 |
87,477,463 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5383:Tdrd3
|
UTSW |
14 |
87,480,791 (GRCm38) |
nonsense |
probably null |
|
|
R5718:Tdrd3
|
UTSW |
14 |
87,506,440 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6240:Tdrd3
|
UTSW |
14 |
87,505,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6292:Tdrd3
|
UTSW |
14 |
87,506,254 (GRCm38) |
missense |
probably benign |
|
|
R6532:Tdrd3
|
UTSW |
14 |
87,505,816 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6958:Tdrd3
|
UTSW |
14 |
87,457,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7224:Tdrd3
|
UTSW |
14 |
87,477,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7240:Tdrd3
|
UTSW |
14 |
87,458,803 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7565:Tdrd3
|
UTSW |
14 |
87,506,593 (GRCm38) |
nonsense |
probably null |
|
|
R7818:Tdrd3
|
UTSW |
14 |
87,472,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7861:Tdrd3
|
UTSW |
14 |
87,472,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8108:Tdrd3
|
UTSW |
14 |
87,486,266 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8206:Tdrd3
|
UTSW |
14 |
87,511,778 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8383:Tdrd3
|
UTSW |
14 |
87,506,308 (GRCm38) |
missense |
probably benign |
0.26 |
|
R8786:Tdrd3
|
UTSW |
14 |
87,472,201 (GRCm38) |
nonsense |
probably null |
|
|
R8985:Tdrd3
|
UTSW |
14 |
87,506,161 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R9081:Tdrd3
|
UTSW |
14 |
87,506,281 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9520:Tdrd3
|
UTSW |
14 |
87,487,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTTGAGGTTGCTGCAGC -3'
(R):5'- TGCTATGTAACCTACAGCGGTG -3'
Sequencing Primer
(F):5'- GATGCTTGTGACCCGCCATATG -3'
(R):5'- TAACCTACAGCGGTGAGGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation