Incidental Mutation 'R5383:Tdrd3'
| ID |
424872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd3
|
| Ensembl Gene |
ENSMUSG00000022019 |
| Gene Name |
tudor domain containing 3 |
| Synonyms |
4732418C03Rik |
| MMRRC Submission |
042958-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.508)
|
| Stock # |
R5383 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
87416639-87545504 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 87480791 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 203
(Q203*)
|
| 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 null
Transcript: ENSMUST00000168275
AA Change: Q209*
|
| SMART Domains |
Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: Q209*
| 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: Q209*
|
| SMART Domains |
Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: Q209*
| 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: ENSMUST00000170712
AA Change: Q197*
|
| SMART Domains |
Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: Q197*
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1767
|
19 |
77 |
4.37e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170865
AA Change: Q203*
|
| SMART Domains |
Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: Q203*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
A |
T |
17: 8,992,700 (GRCm38) |
Y227F |
possibly damaging |
Het |
| 4921501E09Rik |
T |
C |
17: 33,065,257 (GRCm38) |
D857G |
probably benign |
Het |
| Aadac |
T |
C |
3: 60,036,075 (GRCm38) |
|
probably benign |
Het |
| Abl2 |
G |
A |
1: 156,642,232 (GRCm38) |
G918E |
possibly damaging |
Het |
| Acvr1c |
T |
C |
2: 58,287,735 (GRCm38) |
T241A |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,455,603 (GRCm38) |
V328A |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,916,037 (GRCm38) |
I279V |
probably benign |
Het |
| AW551984 |
T |
A |
9: 39,590,698 (GRCm38) |
Y704F |
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,534,401 (GRCm38) |
D321G |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 30,045,279 (GRCm38) |
D1910V |
possibly damaging |
Het |
| Ccdc129 |
T |
A |
6: 55,978,290 (GRCm38) |
L961H |
probably benign |
Het |
| Cdh5 |
A |
G |
8: 104,137,847 (GRCm38) |
Q480R |
probably benign |
Het |
| Cdhr1 |
C |
T |
14: 37,089,007 (GRCm38) |
V266M |
possibly damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,350,835 (GRCm38) |
V414D |
possibly damaging |
Het |
| Ctdnep1 |
T |
A |
11: 69,984,396 (GRCm38) |
|
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,278,091 (GRCm38) |
M212V |
possibly damaging |
Het |
| D130043K22Rik |
G |
A |
13: 24,857,414 (GRCm38) |
S273N |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,684,852 (GRCm38) |
S250P |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,167,671 (GRCm38) |
T486A |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,135,457 (GRCm38) |
T523A |
probably damaging |
Het |
| Dmbx1 |
A |
G |
4: 115,918,145 (GRCm38) |
S313P |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 19,088,019 (GRCm38) |
L301V |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,085,697 (GRCm38) |
E1664G |
probably damaging |
Het |
| Dpysl3 |
A |
T |
18: 43,438,038 (GRCm38) |
V57E |
probably damaging |
Het |
| Fam98a |
C |
T |
17: 75,538,581 (GRCm38) |
G390E |
unknown |
Het |
| Hook3 |
C |
A |
8: 26,118,989 (GRCm38) |
R9L |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 69,016,665 (GRCm38) |
S81A |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,243,626 (GRCm38) |
D298G |
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,600,145 (GRCm38) |
V48D |
probably damaging |
Het |
| Kcnh1 |
G |
A |
1: 192,505,691 (GRCm38) |
G820D |
probably benign |
Het |
| Lsm14a |
C |
T |
7: 34,389,364 (GRCm38) |
A39T |
possibly damaging |
Het |
| Muc2 |
T |
C |
7: 141,753,719 (GRCm38) |
C804R |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 119,727,799 (GRCm38) |
V25M |
probably benign |
Het |
| Olfr1246 |
T |
C |
2: 89,591,113 (GRCm38) |
M1V |
probably null |
Het |
| Olfr1484 |
T |
A |
19: 13,586,075 (GRCm38) |
M257K |
probably damaging |
Het |
| Olfr741 |
T |
A |
14: 50,486,052 (GRCm38) |
L198* |
probably null |
Het |
| Olfr780 |
A |
G |
10: 129,322,336 (GRCm38) |
T238A |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,997,037 (GRCm38) |
A91S |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,577,432 (GRCm38) |
H856Q |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,574,375 (GRCm38) |
C1679R |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,310,273 (GRCm38) |
L441* |
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,584,168 (GRCm38) |
F284L |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,698,049 (GRCm38) |
K769M |
probably damaging |
Het |
| Rbm12 |
G |
T |
2: 156,103,365 (GRCm38) |
|
probably benign |
Het |
| Rpf1 |
T |
C |
3: 146,519,391 (GRCm38) |
D94G |
possibly damaging |
Het |
| Scap |
G |
T |
9: 110,374,529 (GRCm38) |
K310N |
probably damaging |
Het |
| Smpd2 |
C |
T |
10: 41,488,702 (GRCm38) |
|
probably benign |
Het |
| Sp110 |
TC |
TCC |
1: 85,591,569 (GRCm38) |
|
probably null |
Het |
| Specc1l |
T |
A |
10: 75,246,705 (GRCm38) |
I662N |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 30,011,328 (GRCm38) |
V1496D |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,471,260 (GRCm38) |
|
probably benign |
Het |
| Taf2 |
A |
G |
15: 55,049,419 (GRCm38) |
I515T |
possibly damaging |
Het |
| Tfap2b |
A |
T |
1: 19,226,498 (GRCm38) |
M222L |
probably benign |
Het |
| Tmem43 |
G |
A |
6: 91,473,890 (GRCm38) |
A2T |
probably benign |
Het |
| Trav9-1 |
T |
A |
14: 53,488,376 (GRCm38) |
I49N |
probably benign |
Het |
| Trim23 |
T |
G |
13: 104,198,697 (GRCm38) |
N410K |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,467,416 (GRCm38) |
T567A |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,104,627 (GRCm38) |
N1081S |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,813,806 (GRCm38) |
I9R |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,104,707 (GRCm38) |
M92K |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,095,492 (GRCm38) |
G198D |
probably benign |
Het |
| Zfp637 |
G |
T |
6: 117,843,309 (GRCm38) |
|
probably benign |
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 |
|
|
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 |
|
R6850:Tdrd3
|
UTSW |
14 |
87,458,079 (GRCm38) |
intron |
probably benign |
|
|
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'- AGTGGTAGTTTTGCCTTTACCAATG -3'
(R):5'- CTGCTTGTCCAATCTGTAGAGAG -3'
Sequencing Primer
(F):5'- GTAGTTTTGCCTTTACCAATGATAAG -3'
(R):5'- TCTGTAGAGAGGAGTATGAGCACTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation