Incidental Mutation 'R2162:Tdrd3'
ID |
235227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrd3
|
Ensembl Gene |
ENSMUSG00000022019 |
Gene Name |
tudor domain containing 3 |
Synonyms |
4732418C03Rik |
MMRRC Submission |
040165-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.429)
|
Stock # |
R2162 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
87654075-87782940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87718221 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 201
(T201A)
|
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: T207A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129019 Gene: ENSMUSG00000022019 AA Change: T207A
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: T207A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131542 Gene: ENSMUSG00000022019 AA Change: T207A
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 |
unknown
Transcript: ENSMUST00000170712
AA Change: T195A
|
SMART Domains |
Protein: ENSMUSP00000126212 Gene: ENSMUSG00000022019 AA Change: T195A
Domain | Start | End | E-Value | Type |
DUF1767
|
19 |
77 |
4.37e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170865
AA Change: T201A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126189 Gene: ENSMUSG00000022019 AA Change: T201A
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 |
0.0678 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (55/55) |
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 |
Adamts20 |
A |
C |
15: 94,229,339 (GRCm39) |
C927G |
probably damaging |
Het |
Afdn |
T |
A |
17: 14,116,436 (GRCm39) |
D190E |
probably benign |
Het |
Ankrd28 |
T |
C |
14: 31,430,719 (GRCm39) |
D850G |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,852,813 (GRCm39) |
M1T |
probably null |
Het |
Atp6v0a4 |
T |
G |
6: 38,065,581 (GRCm39) |
K128N |
possibly damaging |
Het |
Bcat1 |
T |
A |
6: 144,955,834 (GRCm39) |
D349V |
probably damaging |
Het |
Cacna1i |
T |
C |
15: 80,240,388 (GRCm39) |
F370S |
probably damaging |
Het |
Clca4b |
T |
C |
3: 144,634,348 (GRCm39) |
I82V |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cyfip2 |
T |
C |
11: 46,152,333 (GRCm39) |
D485G |
probably benign |
Het |
Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
Dnaaf5 |
T |
C |
5: 139,167,320 (GRCm39) |
V447A |
possibly damaging |
Het |
Dpp9 |
A |
T |
17: 56,506,113 (GRCm39) |
F429I |
possibly damaging |
Het |
Eng |
C |
T |
2: 32,569,059 (GRCm39) |
R528C |
probably damaging |
Het |
Gcn1 |
A |
T |
5: 115,730,191 (GRCm39) |
Q835L |
probably benign |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Hlx |
T |
A |
1: 184,462,889 (GRCm39) |
|
probably null |
Het |
Htt |
T |
A |
5: 34,979,062 (GRCm39) |
V815D |
probably benign |
Het |
Il36rn |
G |
T |
2: 24,169,692 (GRCm39) |
L17F |
probably damaging |
Het |
Itga1 |
C |
T |
13: 115,167,446 (GRCm39) |
V157I |
probably benign |
Het |
Krtap19-3 |
T |
G |
16: 88,674,607 (GRCm39) |
*88C |
probably null |
Het |
Lzic |
G |
C |
4: 149,573,185 (GRCm39) |
E112D |
probably null |
Het |
Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
Mep1b |
C |
T |
18: 21,219,296 (GRCm39) |
T150I |
possibly damaging |
Het |
Mroh7 |
G |
C |
4: 106,557,378 (GRCm39) |
S777R |
probably damaging |
Het |
Nrxn1 |
G |
A |
17: 90,469,859 (GRCm39) |
R35C |
probably damaging |
Het |
Or12e10 |
T |
A |
2: 87,640,704 (GRCm39) |
I180K |
probably damaging |
Het |
Or51v8 |
T |
G |
7: 103,320,079 (GRCm39) |
Q53P |
possibly damaging |
Het |
Or5p69 |
C |
A |
7: 107,966,769 (GRCm39) |
P24Q |
probably benign |
Het |
Pacs2 |
A |
G |
12: 113,014,567 (GRCm39) |
T243A |
probably benign |
Het |
Pan2 |
A |
G |
10: 128,140,091 (GRCm39) |
E4G |
possibly damaging |
Het |
Pdp1 |
A |
G |
4: 11,961,123 (GRCm39) |
V396A |
probably damaging |
Het |
Pdzd7 |
A |
G |
19: 45,024,494 (GRCm39) |
|
probably null |
Het |
Peg10 |
T |
A |
6: 4,755,914 (GRCm39) |
|
probably benign |
Het |
Pgc |
C |
A |
17: 48,040,236 (GRCm39) |
F93L |
probably null |
Het |
Piezo2 |
A |
G |
18: 63,214,733 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
C |
17: 64,616,397 (GRCm39) |
D166G |
probably benign |
Het |
Ppp1r9b |
T |
C |
11: 94,888,877 (GRCm39) |
L97P |
probably damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
S100a10 |
T |
C |
3: 93,471,680 (GRCm39) |
V88A |
probably damaging |
Het |
Scn9a |
T |
A |
2: 66,364,573 (GRCm39) |
Y789F |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
Spata31g1 |
A |
G |
4: 42,972,238 (GRCm39) |
T524A |
possibly damaging |
Het |
Sptan1 |
T |
C |
2: 29,908,588 (GRCm39) |
|
probably benign |
Het |
Srrd |
G |
T |
5: 112,490,810 (GRCm39) |
|
probably benign |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Ttll4 |
A |
G |
1: 74,725,550 (GRCm39) |
K653E |
probably damaging |
Het |
Usp43 |
A |
G |
11: 67,770,795 (GRCm39) |
L613P |
probably damaging |
Het |
Vmn1r167 |
T |
C |
7: 23,204,224 (GRCm39) |
D264G |
possibly damaging |
Het |
Whamm |
A |
G |
7: 81,221,089 (GRCm39) |
D7G |
probably damaging |
Het |
Zcchc17 |
T |
C |
4: 130,232,317 (GRCm39) |
D62G |
probably benign |
Het |
Zfp280d |
T |
A |
9: 72,206,104 (GRCm39) |
I62K |
probably damaging |
Het |
Zfp445 |
T |
G |
9: 122,681,541 (GRCm39) |
E800A |
probably damaging |
Het |
Zfp516 |
A |
G |
18: 83,005,063 (GRCm39) |
R656G |
possibly 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 |
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 |
|
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'- AGTGGTAGTTTTGCCTTTACCAATG -3'
(R):5'- TCTGCTTGTCCAATCTGTAGAG -3'
Sequencing Primer
(F):5'- GTAGTTTTGCCTTTACCAATGATAAG -3'
(R):5'- CTTGTCCAATCTGTAGAGAGGAG -3'
|
Posted On |
2014-10-01 |