Incidental Mutation 'R5318:Tdrd3'
| ID |
405947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd3
|
| Ensembl Gene |
ENSMUSG00000022019 |
| Gene Name |
tudor domain containing 3 |
| Synonyms |
4732418C03Rik |
| MMRRC Submission |
042901-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R5318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
87654075-87782940 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 87714899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
| 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
|
| SMART Domains |
Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
| 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
|
| SMART Domains |
Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1767
|
19 |
77 |
4.37e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170865
|
| SMART Domains |
Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
G |
A |
17: 35,878,883 (GRCm39) |
E74K |
possibly damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,282,754 (GRCm39) |
S298P |
probably damaging |
Het |
| Arfgef2 |
A |
C |
2: 166,715,891 (GRCm39) |
K1393N |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,414,754 (GRCm39) |
V181E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,371,961 (GRCm39) |
D134G |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,425 (GRCm39) |
T359A |
possibly damaging |
Het |
| Cblb |
A |
T |
16: 52,006,561 (GRCm39) |
K754N |
possibly damaging |
Het |
| Ccdc153 |
A |
T |
9: 44,157,062 (GRCm39) |
R135* |
probably null |
Het |
| Cel |
T |
C |
2: 28,447,720 (GRCm39) |
E398G |
possibly damaging |
Het |
| Clip1 |
G |
A |
5: 123,751,147 (GRCm39) |
|
probably benign |
Het |
| Dnase2b |
C |
A |
3: 146,288,210 (GRCm39) |
R295L |
probably benign |
Het |
| Dnm3 |
G |
A |
1: 161,839,376 (GRCm39) |
Q194* |
probably null |
Het |
| Dtx2 |
T |
A |
5: 136,040,954 (GRCm39) |
S120T |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 16,287,925 (GRCm39) |
S533T |
probably damaging |
Het |
| Foxred2 |
T |
C |
15: 77,836,598 (GRCm39) |
I306V |
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,102,234 (GRCm39) |
T278S |
probably benign |
Het |
| Gli2 |
T |
A |
1: 118,772,200 (GRCm39) |
T502S |
probably damaging |
Het |
| Gm21830 |
A |
T |
2: 67,263,158 (GRCm39) |
|
probably null |
Het |
| Gm5617 |
T |
A |
9: 48,407,211 (GRCm39) |
I115N |
possibly damaging |
Het |
| Gpr75 |
G |
T |
11: 30,842,459 (GRCm39) |
A455S |
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,587,929 (GRCm39) |
E683G |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,916 (GRCm39) |
I877V |
probably damaging |
Het |
| Gsg1l2 |
G |
T |
11: 67,673,347 (GRCm39) |
C109F |
possibly damaging |
Het |
| H2-Q4 |
G |
A |
17: 35,602,287 (GRCm39) |
V341I |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Kif5c |
A |
G |
2: 49,561,840 (GRCm39) |
K68R |
probably benign |
Het |
| Lct |
T |
A |
1: 128,232,109 (GRCm39) |
H580L |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,495 (GRCm39) |
I302M |
probably damaging |
Het |
| Mef2b |
A |
T |
8: 70,619,493 (GRCm39) |
R228W |
probably damaging |
Het |
| Mtus2 |
T |
A |
5: 148,013,382 (GRCm39) |
D58E |
probably benign |
Het |
| Myh15 |
T |
G |
16: 48,930,834 (GRCm39) |
S603A |
probably damaging |
Het |
| Or1x2 |
T |
C |
11: 50,918,420 (GRCm39) |
V197A |
probably benign |
Het |
| Or8d1 |
C |
T |
9: 38,766,744 (GRCm39) |
P129S |
probably damaging |
Het |
| Or8s2 |
A |
G |
15: 98,276,523 (GRCm39) |
I156T |
possibly damaging |
Het |
| P2rx4 |
G |
A |
5: 122,857,211 (GRCm39) |
C149Y |
probably null |
Het |
| Pramel51 |
A |
T |
12: 88,142,998 (GRCm39) |
C207S |
probably benign |
Het |
| Proca1 |
T |
A |
11: 78,092,683 (GRCm39) |
V43E |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,301,486 (GRCm39) |
N454K |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,743 (GRCm39) |
T235A |
probably benign |
Het |
| Serpina6 |
T |
C |
12: 103,620,221 (GRCm39) |
E176G |
possibly damaging |
Het |
| Shprh |
T |
G |
10: 11,042,301 (GRCm39) |
I761M |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,759,427 (GRCm39) |
|
probably benign |
Het |
| Snupn |
T |
C |
9: 56,864,345 (GRCm39) |
S15P |
probably damaging |
Het |
| Tbc1d15 |
A |
T |
10: 115,044,874 (GRCm39) |
Y509* |
probably null |
Het |
| Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
| Tm9sf4 |
T |
A |
2: 153,029,576 (GRCm39) |
V175D |
probably benign |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,092 (GRCm39) |
L102P |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,800,300 (GRCm39) |
N1788I |
possibly damaging |
Het |
| Xpc |
A |
C |
6: 91,469,992 (GRCm39) |
V744G |
probably damaging |
Het |
| Xrcc6 |
T |
C |
15: 81,921,708 (GRCm39) |
F178L |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,585,853 (GRCm39) |
S495P |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,317,624 (GRCm39) |
V1196A |
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 |
|
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'- GAAAGAACTTTCCCAGCTTACAG -3'
(R):5'- ATTGCTTCAATCTCTGGGATTAGG -3'
Sequencing Primer
(F):5'- AGGCTGTTGTGTCTCAAGATTCTAC -3'
(R):5'- CCCAGCTTAAGCACAATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation