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 non essential
(E-score: 0.334)
|
| Stock # |
R5383 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
87654075-87782940 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 87718227 bp (GRCm39)
|
| 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: 9,211,532 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Aadac |
T |
C |
3: 59,943,496 (GRCm39) |
|
probably benign |
Het |
| Abl2 |
G |
A |
1: 156,469,802 (GRCm39) |
G918E |
possibly damaging |
Het |
| Acvr1c |
T |
C |
2: 58,177,747 (GRCm39) |
T241A |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,422,373 (GRCm39) |
V328A |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,813,918 (GRCm39) |
I279V |
probably benign |
Het |
| AW551984 |
T |
A |
9: 39,501,994 (GRCm39) |
Y704F |
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,511,360 (GRCm39) |
D321G |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,767,236 (GRCm39) |
D1910V |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,864,479 (GRCm39) |
Q480R |
probably benign |
Het |
| Cdhr1 |
C |
T |
14: 36,810,964 (GRCm39) |
V266M |
possibly damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,192,755 (GRCm39) |
V414D |
possibly damaging |
Het |
| Ctdnep1 |
T |
A |
11: 69,875,222 (GRCm39) |
|
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,168,918 (GRCm39) |
M212V |
possibly damaging |
Het |
| D130043K22Rik |
G |
A |
13: 25,041,397 (GRCm39) |
S273N |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,163 (GRCm39) |
S250P |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,095,409 (GRCm39) |
T486A |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,862,196 (GRCm39) |
T523A |
probably damaging |
Het |
| Dmbx1 |
A |
G |
4: 115,775,342 (GRCm39) |
S313P |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,049,432 (GRCm39) |
E1664G |
probably damaging |
Het |
| Dpysl3 |
A |
T |
18: 43,571,103 (GRCm39) |
V57E |
probably damaging |
Het |
| Fam98a |
C |
T |
17: 75,845,576 (GRCm39) |
G390E |
unknown |
Het |
| Hook3 |
C |
A |
8: 26,609,017 (GRCm39) |
R9L |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,063,989 (GRCm39) |
D298G |
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,566,579 (GRCm39) |
V48D |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,955,275 (GRCm39) |
L961H |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 192,187,999 (GRCm39) |
G820D |
probably benign |
Het |
| Lsm14a |
C |
T |
7: 34,088,789 (GRCm39) |
A39T |
possibly damaging |
Het |
| Muc2 |
T |
C |
7: 141,307,456 (GRCm39) |
C804R |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 120,189,335 (GRCm39) |
V25M |
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,509 (GRCm39) |
L198* |
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,421,457 (GRCm39) |
M1V |
probably null |
Het |
| Or5b122 |
T |
A |
19: 13,563,439 (GRCm39) |
M257K |
probably damaging |
Het |
| Or6c68 |
A |
G |
10: 129,158,205 (GRCm39) |
T238A |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,231 (GRCm39) |
D857G |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,627,468 (GRCm39) |
H856Q |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,793,349 (GRCm39) |
C1679R |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,140,617 (GRCm39) |
L441* |
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,550,427 (GRCm39) |
F284L |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,539,969 (GRCm39) |
K769M |
probably damaging |
Het |
| Rbm12 |
G |
T |
2: 155,945,285 (GRCm39) |
|
probably benign |
Het |
| Rpf1 |
T |
C |
3: 146,225,146 (GRCm39) |
D94G |
possibly damaging |
Het |
| Scap |
G |
T |
9: 110,203,597 (GRCm39) |
K310N |
probably damaging |
Het |
| Smpd2 |
C |
T |
10: 41,364,698 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
TC |
TCC |
1: 85,519,290 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
A |
10: 75,082,539 (GRCm39) |
I662N |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,901,340 (GRCm39) |
V1496D |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,609,319 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
G |
15: 54,912,815 (GRCm39) |
I515T |
possibly damaging |
Het |
| Tfap2b |
A |
T |
1: 19,296,722 (GRCm39) |
M222L |
probably benign |
Het |
| Tmem43 |
G |
A |
6: 91,450,872 (GRCm39) |
A2T |
probably benign |
Het |
| Trav9-1 |
T |
A |
14: 53,725,833 (GRCm39) |
I49N |
probably benign |
Het |
| Trim23 |
T |
G |
13: 104,335,205 (GRCm39) |
N410K |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,778,342 (GRCm39) |
T567A |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,070,886 (GRCm39) |
N1081S |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,852,887 (GRCm39) |
I9R |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,323,681 (GRCm39) |
M92K |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,013,729 (GRCm39) |
G198D |
probably benign |
Het |
| Zfp637 |
G |
T |
6: 117,820,270 (GRCm39) |
|
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 |
|
|
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'- AGTGGTAGTTTTGCCTTTACCAATG -3'
(R):5'- CTGCTTGTCCAATCTGTAGAGAG -3'
Sequencing Primer
(F):5'- GTAGTTTTGCCTTTACCAATGATAAG -3'
(R):5'- TCTGTAGAGAGGAGTATGAGCACTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation