Incidental Mutation 'R2096:Tdrd3'
ID |
232132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrd3
|
Ensembl Gene |
ENSMUSG00000022019 |
Gene Name |
tudor domain containing 3 |
Synonyms |
4732418C03Rik |
MMRRC Submission |
040100-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.429)
|
Stock # |
R2096 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
87654075-87782940 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 87743788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 573
(Q573*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168275]
[ENSMUST00000169504]
[ENSMUST00000170865]
|
AlphaFold |
Q91W18 |
Predicted Effect |
probably null
Transcript: ENSMUST00000168275
AA Change: Q579*
|
SMART Domains |
Protein: ENSMUSP00000129019 Gene: ENSMUSG00000022019 AA Change: Q579*
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 null
Transcript: ENSMUST00000169504
AA Change: Q579*
|
SMART Domains |
Protein: ENSMUSP00000131542 Gene: ENSMUSG00000022019 AA Change: Q579*
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 null
Transcript: ENSMUST00000170865
AA Change: Q573*
|
SMART Domains |
Protein: ENSMUSP00000126189 Gene: ENSMUSG00000022019 AA Change: Q573*
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
A |
G |
8: 124,709,195 (GRCm39) |
S120P |
probably benign |
Het |
Actr3b |
T |
A |
5: 26,036,743 (GRCm39) |
Y185* |
probably null |
Het |
Atg101 |
T |
A |
15: 101,188,382 (GRCm39) |
H162Q |
possibly damaging |
Het |
Btf3 |
T |
A |
13: 98,449,659 (GRCm39) |
Q109L |
possibly damaging |
Het |
Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
Capn7 |
T |
G |
14: 31,071,844 (GRCm39) |
|
probably null |
Het |
Cd209f |
A |
G |
8: 4,155,537 (GRCm39) |
V17A |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,385,656 (GRCm39) |
V2208A |
possibly damaging |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Comp |
T |
C |
8: 70,828,713 (GRCm39) |
C182R |
probably damaging |
Het |
Ctsl |
A |
G |
13: 64,516,840 (GRCm39) |
|
probably null |
Het |
Cyp3a44 |
G |
T |
5: 145,725,215 (GRCm39) |
Q329K |
probably damaging |
Het |
Dcpp1 |
A |
T |
17: 24,099,971 (GRCm39) |
|
probably null |
Het |
Dhx38 |
A |
G |
8: 110,280,891 (GRCm39) |
V831A |
probably damaging |
Het |
Dkk2 |
T |
C |
3: 131,791,858 (GRCm39) |
M22T |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,346,742 (GRCm39) |
E2615K |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,426,713 (GRCm39) |
|
probably null |
Het |
Gm12888 |
T |
G |
4: 121,176,655 (GRCm39) |
I49L |
probably benign |
Het |
Insyn2b |
C |
A |
11: 34,352,936 (GRCm39) |
S326Y |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,815,252 (GRCm39) |
M194K |
probably damaging |
Het |
Mael |
G |
T |
1: 166,053,244 (GRCm39) |
Q254K |
probably benign |
Het |
Nek9 |
T |
C |
12: 85,361,322 (GRCm39) |
D461G |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,281,825 (GRCm39) |
N819S |
probably benign |
Het |
Ntng1 |
T |
A |
3: 109,739,871 (GRCm39) |
N390Y |
probably damaging |
Het |
Or5g25 |
A |
G |
2: 85,478,434 (GRCm39) |
I77T |
probably benign |
Het |
P2ry14 |
C |
T |
3: 59,022,738 (GRCm39) |
V250I |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,485,987 (GRCm39) |
D1870E |
probably benign |
Het |
Phf2 |
T |
A |
13: 48,985,589 (GRCm39) |
K64* |
probably null |
Het |
Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
Ppa2 |
A |
G |
3: 133,032,445 (GRCm39) |
T97A |
probably damaging |
Het |
Psd |
G |
A |
19: 46,313,088 (GRCm39) |
|
probably null |
Het |
Psg23 |
T |
A |
7: 18,348,668 (GRCm39) |
E46D |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rab11b |
A |
G |
17: 33,967,976 (GRCm39) |
Y74H |
probably damaging |
Het |
Rfc3 |
A |
T |
5: 151,568,383 (GRCm39) |
S194R |
probably benign |
Het |
Sema4d |
A |
T |
13: 51,864,037 (GRCm39) |
I414N |
probably damaging |
Het |
Serpinb1a |
A |
T |
13: 33,031,437 (GRCm39) |
D120E |
probably damaging |
Het |
Snai2 |
T |
A |
16: 14,524,861 (GRCm39) |
H122Q |
possibly damaging |
Het |
Spats2l |
T |
C |
1: 57,985,458 (GRCm39) |
S504P |
probably benign |
Het |
Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
Sspo |
G |
T |
6: 48,438,608 (GRCm39) |
V1559L |
probably benign |
Het |
Tas2r118 |
T |
G |
6: 23,969,912 (GRCm39) |
I50L |
possibly damaging |
Het |
Thoc2l |
T |
C |
5: 104,667,835 (GRCm39) |
S786P |
possibly damaging |
Het |
Tlnrd1 |
G |
A |
7: 83,532,062 (GRCm39) |
T123I |
probably benign |
Het |
Tmem214 |
T |
A |
5: 31,033,714 (GRCm39) |
L555H |
probably damaging |
Het |
Tmprss12 |
T |
A |
15: 100,183,117 (GRCm39) |
M153K |
probably benign |
Het |
Tmprss9 |
G |
A |
10: 80,725,268 (GRCm39) |
G410S |
probably damaging |
Het |
Trpm6 |
T |
A |
19: 18,803,116 (GRCm39) |
M853K |
probably damaging |
Het |
Vmn1r35 |
A |
G |
6: 66,655,929 (GRCm39) |
I247T |
possibly damaging |
Het |
Zcchc7 |
C |
A |
4: 44,931,059 (GRCm39) |
P404T |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
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 |
|
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'- AGGCCCTTTGTATGCAGAGG -3'
(R):5'- ACACTTTTGCATACTCCACAGG -3'
Sequencing Primer
(F):5'- CCCTTTGTATGCAGAGGCCAAAG -3'
(R):5'- TGCATACTCCACAGGAATAGATG -3'
|
Posted On |
2014-09-18 |