Incidental Mutation 'R5212:Tdrd3'
| ID |
403204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd3
|
| Ensembl Gene |
ENSMUSG00000022019 |
| Gene Name |
tudor domain containing 3 |
| Synonyms |
4732418C03Rik |
| MMRRC Submission |
042786-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.508)
|
| Stock # |
R5212 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
87416639-87545504 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 87506215 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 527
(R527P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168275]
[ENSMUST00000169504]
[ENSMUST00000170865]
|
| AlphaFold |
Q91W18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168275
AA Change: R533P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: R533P
| 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: R533P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: R533P
| 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: ENSMUST00000170865
AA Change: R527P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: R527P
| 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 |
0.0744 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (58/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 138,065,850 |
S267T |
possibly damaging |
Het |
| Abca9 |
T |
C |
11: 110,107,226 |
D1514G |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,677,670 |
D896V |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,379,820 |
Y362C |
probably damaging |
Het |
| Arglu1 |
T |
A |
8: 8,683,843 |
R158W |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,728,388 |
E46G |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,646,796 |
V1172A |
probably benign |
Het |
| Bhlhe23 |
T |
A |
2: 180,776,093 |
K217N |
probably damaging |
Het |
| Birc6 |
A |
C |
17: 74,670,374 |
N4388T |
probably damaging |
Het |
| Ccp110 |
C |
T |
7: 118,729,696 |
A845V |
probably damaging |
Het |
| Cd63 |
A |
G |
10: 128,911,853 |
Y105C |
probably damaging |
Het |
| Cdk11b |
T |
C |
4: 155,638,615 |
|
probably null |
Het |
| Clip1 |
T |
A |
5: 123,630,681 |
R618S |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,967,743 |
F1731L |
possibly damaging |
Het |
| Dock1 |
A |
C |
7: 134,789,194 |
K728Q |
possibly damaging |
Het |
| Emc2 |
A |
G |
15: 43,510,844 |
E180G |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,512,987 |
I394F |
probably benign |
Het |
| Fnta |
A |
G |
8: 26,009,707 |
I155T |
probably benign |
Het |
| Fshr |
T |
A |
17: 88,986,257 |
E331V |
probably benign |
Het |
| Fshr |
T |
A |
17: 88,986,256 |
E331D |
probably benign |
Het |
| Gas2l1 |
A |
T |
11: 5,061,108 |
C574S |
probably benign |
Het |
| Ggnbp2 |
T |
A |
11: 84,854,021 |
|
probably benign |
Het |
| Gm3371 |
A |
C |
14: 44,403,654 |
|
probably benign |
Het |
| Gm7489 |
T |
A |
15: 53,885,620 |
|
probably benign |
Het |
| Hand1 |
A |
C |
11: 57,831,447 |
F114V |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,280,595 |
H259P |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,104,901 |
H183L |
probably benign |
Het |
| Kif1bp |
A |
T |
10: 62,563,129 |
|
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,997,967 |
A369D |
possibly damaging |
Het |
| Krt82 |
T |
C |
15: 101,545,049 |
S301G |
probably damaging |
Het |
| Lig3 |
A |
G |
11: 82,787,678 |
T248A |
probably benign |
Het |
| Madcam1 |
C |
G |
10: 79,668,345 |
T255S |
probably benign |
Het |
| Med20 |
T |
C |
17: 47,618,850 |
Y71H |
probably benign |
Het |
| Mtss1l |
A |
G |
8: 110,729,218 |
I107V |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,547 |
F328S |
possibly damaging |
Het |
| Ncbp3 |
A |
G |
11: 73,053,547 |
|
probably benign |
Het |
| Nek8 |
T |
C |
11: 78,172,516 |
M1V |
probably null |
Het |
| Nufip1 |
A |
T |
14: 76,133,098 |
N413I |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,288,781 |
|
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,862,445 |
G419R |
probably benign |
Het |
| Rfx1 |
G |
T |
8: 84,066,592 |
|
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,911,323 |
A68V |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 20,896,214 |
M776K |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,542,817 |
Y63N |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,785 |
T480I |
probably damaging |
Het |
| Snap47 |
T |
C |
11: 59,428,352 |
E320G |
probably damaging |
Het |
| Spaca6 |
C |
A |
17: 17,838,394 |
P68Q |
probably benign |
Het |
| Tmprss2 |
G |
T |
16: 97,576,292 |
Q202K |
probably benign |
Het |
| Tmprss6 |
A |
G |
15: 78,446,260 |
V69A |
probably damaging |
Het |
| Trav6-1 |
A |
T |
14: 52,638,704 |
Q27L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,901,613 |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,797,675 |
D12931V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,789,601 |
I15908V |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,444,705 |
|
probably null |
Het |
| Wls |
A |
G |
3: 159,873,008 |
N69S |
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 |
|
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 |
|
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'- GTGTGACAGGCCATATTCTAGG -3'
(R):5'- ACTTAATCGGTCCTACGCGC -3'
Sequencing Primer
(F):5'- GTGACAGGCCATATTCTAGGTATGAC -3'
(R):5'- CTTCCTTTCAGAGGCGGAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation