Incidental Mutation 'R1655:Tdrd1'
| ID |
189065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd1
|
| Ensembl Gene |
ENSMUSG00000025081 |
| Gene Name |
tudor domain containing 1 |
| Synonyms |
MTR-1 |
| MMRRC Submission |
039691-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R1655 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 56831648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 346
(Y346*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078723]
[ENSMUST00000111604]
[ENSMUST00000111606]
[ENSMUST00000121249]
|
| AlphaFold |
Q99MV1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078723
AA Change: Y346*
|
| SMART Domains |
Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: Y346*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
117 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
163 |
199 |
3.5e-13 |
PFAM |
|
TUDOR
|
306 |
365 |
6.45e-11 |
SMART |
|
TUDOR
|
537 |
593 |
4.88e-11 |
SMART |
|
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
|
TUDOR
|
755 |
813 |
3.97e-11 |
SMART |
|
TUDOR
|
981 |
1038 |
1.27e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111604
AA Change: Y346*
|
| SMART Domains |
Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: Y346*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
117 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
163 |
199 |
3.5e-13 |
PFAM |
|
TUDOR
|
306 |
365 |
6.45e-11 |
SMART |
|
TUDOR
|
537 |
593 |
4.88e-11 |
SMART |
|
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
|
TUDOR
|
755 |
813 |
3.97e-11 |
SMART |
|
TUDOR
|
981 |
1038 |
1.27e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111606
AA Change: Y346*
|
| SMART Domains |
Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: Y346*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
117 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
163 |
199 |
3.5e-13 |
PFAM |
|
TUDOR
|
306 |
365 |
6.45e-11 |
SMART |
|
TUDOR
|
537 |
593 |
4.88e-11 |
SMART |
|
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
|
TUDOR
|
755 |
813 |
3.97e-11 |
SMART |
|
TUDOR
|
981 |
1038 |
1.27e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121249
AA Change: Y346*
|
| SMART Domains |
Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: Y346*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
117 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
163 |
199 |
9.9e-13 |
PFAM |
|
TUDOR
|
306 |
365 |
6.45e-11 |
SMART |
|
TUDOR
|
537 |
593 |
4.88e-11 |
SMART |
|
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
|
TUDOR
|
755 |
813 |
3.97e-11 |
SMART |
|
TUDOR
|
981 |
1038 |
1.27e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male homozygous mice are sterile, displaying postnatal spermatogenic defects. Females are fertile. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2)
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730061H03Rik |
A |
T |
14: 55,797,790 (GRCm39) |
|
probably benign |
Het |
| Abca1 |
C |
T |
4: 53,050,964 (GRCm39) |
A1582T |
probably benign |
Het |
| Acot8 |
A |
T |
2: 164,645,028 (GRCm39) |
S52T |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,049,231 (GRCm39) |
V124M |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,222,436 (GRCm39) |
Y1180* |
probably null |
Het |
| Clptm1 |
T |
A |
7: 19,379,792 (GRCm39) |
H148L |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,414,386 (GRCm39) |
L743P |
probably damaging |
Het |
| Crtc3 |
A |
T |
7: 80,248,524 (GRCm39) |
M313K |
possibly damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,826,341 (GRCm39) |
I326F |
possibly damaging |
Het |
| Dennd6b |
G |
T |
15: 89,080,543 (GRCm39) |
T19K |
unknown |
Het |
| Disp1 |
A |
T |
1: 182,868,568 (GRCm39) |
I1284N |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,364,680 (GRCm39) |
Y1992H |
probably damaging |
Het |
| Dnah6 |
C |
T |
6: 73,182,715 (GRCm39) |
V205I |
possibly damaging |
Het |
| Dst |
G |
T |
1: 34,321,657 (GRCm39) |
G4391* |
probably null |
Het |
| Dytn |
A |
G |
1: 63,700,357 (GRCm39) |
S258P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,752,786 (GRCm39) |
|
probably null |
Het |
| Ermn |
C |
T |
2: 57,942,596 (GRCm39) |
V45I |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,011,467 (GRCm39) |
V2189A |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,846,535 (GRCm39) |
N1076Y |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,392,214 (GRCm39) |
I934T |
probably damaging |
Het |
| Gbp9 |
T |
A |
5: 105,229,558 (GRCm39) |
Q472L |
possibly damaging |
Het |
| Gimap5 |
G |
T |
6: 48,730,110 (GRCm39) |
E227* |
probably null |
Het |
| Gsdmc |
C |
T |
15: 63,651,892 (GRCm39) |
V240M |
probably benign |
Het |
| H2-Q4 |
G |
T |
17: 35,601,881 (GRCm39) |
V248F |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,875,940 (GRCm39) |
E1518G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,084 (GRCm39) |
V3814A |
probably benign |
Het |
| Hoatz |
A |
T |
9: 50,994,921 (GRCm39) |
I136N |
probably damaging |
Het |
| Ifna7 |
A |
G |
4: 88,734,897 (GRCm39) |
T145A |
probably benign |
Het |
| Itgam |
T |
A |
7: 127,714,335 (GRCm39) |
M947K |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,277,646 (GRCm39) |
N608H |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,197,174 (GRCm39) |
N242I |
probably damaging |
Het |
| Lonrf2 |
A |
T |
1: 38,850,905 (GRCm39) |
L219Q |
probably damaging |
Het |
| Ly6c2 |
T |
C |
15: 74,980,412 (GRCm39) |
I126V |
probably benign |
Het |
| Mr1 |
G |
A |
1: 155,008,201 (GRCm39) |
T258M |
probably benign |
Het |
| Mrps35 |
T |
G |
6: 146,961,726 (GRCm39) |
D200E |
possibly damaging |
Het |
| Nbeal2 |
A |
C |
9: 110,461,940 (GRCm39) |
S1506A |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,574,241 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
A |
T |
7: 26,149,076 (GRCm39) |
I228F |
possibly damaging |
Het |
| Or13p5 |
A |
G |
4: 118,592,196 (GRCm39) |
S157G |
probably benign |
Het |
| Or5c1 |
A |
G |
2: 37,221,951 (GRCm39) |
Y64C |
probably damaging |
Het |
| Or5p59 |
A |
T |
7: 107,702,671 (GRCm39) |
I52F |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,058,424 (GRCm39) |
V297A |
possibly damaging |
Het |
| Paxx |
T |
C |
2: 25,350,328 (GRCm39) |
E93G |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,376,490 (GRCm39) |
G128W |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,223,561 (GRCm39) |
I796T |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,654,353 (GRCm39) |
S235P |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,483,788 (GRCm39) |
F259Y |
probably damaging |
Het |
| Pus7 |
T |
A |
5: 23,952,798 (GRCm39) |
K512* |
probably null |
Het |
| Ralyl |
A |
T |
3: 14,172,296 (GRCm39) |
Y55F |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,531,347 (GRCm39) |
M451K |
probably benign |
Het |
| Rhag |
T |
C |
17: 41,142,487 (GRCm39) |
F231L |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,440,808 (GRCm39) |
C94R |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,801,693 (GRCm39) |
D460E |
probably benign |
Het |
| Rpn1 |
T |
C |
6: 88,077,926 (GRCm39) |
V454A |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,429,231 (GRCm39) |
D427G |
probably benign |
Het |
| Scai |
A |
T |
2: 38,970,129 (GRCm39) |
V545D |
possibly damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,973,942 (GRCm39) |
V323A |
probably damaging |
Het |
| Slc13a5 |
C |
A |
11: 72,148,204 (GRCm39) |
C277F |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,703,311 (GRCm39) |
Y557N |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,226,761 (GRCm39) |
V628A |
probably benign |
Het |
| Slc8a2 |
G |
T |
7: 15,875,060 (GRCm39) |
G436V |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Supt5 |
T |
C |
7: 28,029,449 (GRCm39) |
I103V |
probably benign |
Het |
| Tg |
T |
G |
15: 66,700,417 (GRCm39) |
|
probably null |
Het |
| Top1 |
T |
A |
2: 160,545,616 (GRCm39) |
|
probably null |
Het |
| Trmt12 |
T |
C |
15: 58,745,076 (GRCm39) |
L158P |
probably damaging |
Het |
| Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
| Unc80 |
G |
T |
1: 66,711,915 (GRCm39) |
V2746F |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,325,051 (GRCm39) |
V999E |
probably benign |
Het |
| Virma |
T |
C |
4: 11,494,786 (GRCm39) |
V29A |
probably damaging |
Het |
| Zfp40 |
A |
T |
17: 23,396,240 (GRCm39) |
Y48N |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,610,836 (GRCm39) |
V709A |
possibly damaging |
Het |
|
| Other mutations in Tdrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Tdrd1
|
APN |
19 |
56,839,896 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01366:Tdrd1
|
APN |
19 |
56,843,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01569:Tdrd1
|
APN |
19 |
56,822,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Tdrd1
|
APN |
19 |
56,832,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
3-1:Tdrd1
|
UTSW |
19 |
56,850,127 (GRCm39) |
missense |
probably benign |
|
|
R0081:Tdrd1
|
UTSW |
19 |
56,819,703 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0139:Tdrd1
|
UTSW |
19 |
56,831,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0254:Tdrd1
|
UTSW |
19 |
56,830,998 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0686:Tdrd1
|
UTSW |
19 |
56,844,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0735:Tdrd1
|
UTSW |
19 |
56,854,410 (GRCm39) |
nonsense |
probably null |
|
|
R0740:Tdrd1
|
UTSW |
19 |
56,827,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Tdrd1
|
UTSW |
19 |
56,850,192 (GRCm39) |
missense |
probably benign |
|
|
R1294:Tdrd1
|
UTSW |
19 |
56,837,208 (GRCm39) |
splice site |
probably null |
|
|
R1508:Tdrd1
|
UTSW |
19 |
56,839,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1708:Tdrd1
|
UTSW |
19 |
56,830,721 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1796:Tdrd1
|
UTSW |
19 |
56,826,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1840:Tdrd1
|
UTSW |
19 |
56,830,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Tdrd1
|
UTSW |
19 |
56,831,021 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2201:Tdrd1
|
UTSW |
19 |
56,847,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2201:Tdrd1
|
UTSW |
19 |
56,847,093 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2286:Tdrd1
|
UTSW |
19 |
56,827,551 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2443:Tdrd1
|
UTSW |
19 |
56,829,786 (GRCm39) |
missense |
probably null |
0.01 |
|
R3001:Tdrd1
|
UTSW |
19 |
56,850,182 (GRCm39) |
nonsense |
probably null |
|
|
R3002:Tdrd1
|
UTSW |
19 |
56,850,182 (GRCm39) |
nonsense |
probably null |
|
|
R3418:Tdrd1
|
UTSW |
19 |
56,819,663 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3419:Tdrd1
|
UTSW |
19 |
56,819,663 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3707:Tdrd1
|
UTSW |
19 |
56,854,425 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3978:Tdrd1
|
UTSW |
19 |
56,855,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4077:Tdrd1
|
UTSW |
19 |
56,819,505 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4083:Tdrd1
|
UTSW |
19 |
56,831,662 (GRCm39) |
missense |
probably benign |
|
|
R4193:Tdrd1
|
UTSW |
19 |
56,839,773 (GRCm39) |
nonsense |
probably null |
|
|
R5882:Tdrd1
|
UTSW |
19 |
56,837,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Tdrd1
|
UTSW |
19 |
56,831,655 (GRCm39) |
nonsense |
probably null |
|
|
R6223:Tdrd1
|
UTSW |
19 |
56,854,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:Tdrd1
|
UTSW |
19 |
56,829,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6953:Tdrd1
|
UTSW |
19 |
56,819,803 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7090:Tdrd1
|
UTSW |
19 |
56,839,833 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7643:Tdrd1
|
UTSW |
19 |
56,826,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Tdrd1
|
UTSW |
19 |
56,852,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7972:Tdrd1
|
UTSW |
19 |
56,837,134 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7993:Tdrd1
|
UTSW |
19 |
56,854,437 (GRCm39) |
splice site |
probably null |
|
|
R8076:Tdrd1
|
UTSW |
19 |
56,832,267 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8346:Tdrd1
|
UTSW |
19 |
56,830,699 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8400:Tdrd1
|
UTSW |
19 |
56,837,081 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8553:Tdrd1
|
UTSW |
19 |
56,831,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8701:Tdrd1
|
UTSW |
19 |
56,839,916 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8772:Tdrd1
|
UTSW |
19 |
56,843,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8906:Tdrd1
|
UTSW |
19 |
56,831,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9222:Tdrd1
|
UTSW |
19 |
56,831,679 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9321:Tdrd1
|
UTSW |
19 |
56,848,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Tdrd1
|
UTSW |
19 |
56,819,572 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9747:Tdrd1
|
UTSW |
19 |
56,847,101 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9756:Tdrd1
|
UTSW |
19 |
56,831,662 (GRCm39) |
missense |
probably benign |
|
|
X0020:Tdrd1
|
UTSW |
19 |
56,844,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0053:Tdrd1
|
UTSW |
19 |
56,854,223 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGGAAACAGGACCCGTTGTTTG -3'
(R):5'- ACGCCTGACACACAGCACTTTATG -3'
Sequencing Primer
(F):5'- AGGACCCGTTGTTTGCTAGG -3'
(R):5'- CTAACTGTTGGCAACTGAAGC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation