Incidental Mutation 'R8346:Tdrd1'
| ID |
645268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd1
|
| Ensembl Gene |
ENSMUSG00000025081 |
| Gene Name |
tudor domain containing 1 |
| Synonyms |
MTR-1 |
| MMRRC Submission |
067802-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R8346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56830699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 244
(V244A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078723]
[ENSMUST00000111604]
[ENSMUST00000111606]
[ENSMUST00000121249]
|
| AlphaFold |
Q99MV1 |
| PDB Structure |
Structure of extended Tudor domain TD3 from mouse TDRD1 in complex with MILI peptide containing dimethylarginine 45. [X-RAY DIFFRACTION]
Structure of extended Tudor domain TD3 from mouse TDRD1 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078723
AA Change: V244A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: V244A
| 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 benign
Transcript: ENSMUST00000111604
AA Change: V244A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: V244A
| 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 benign
Transcript: ENSMUST00000111606
AA Change: V244A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: V244A
| 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 benign
Transcript: ENSMUST00000121249
AA Change: V244A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: V244A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
A |
G |
14: 59,380,221 (GRCm39) |
S26P |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,177,876 (GRCm39) |
M299K |
probably damaging |
Het |
| Acox1 |
G |
T |
11: 116,069,099 (GRCm39) |
T382N |
possibly damaging |
Het |
| Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
| App |
G |
T |
16: 84,900,145 (GRCm39) |
R102S |
unknown |
Het |
| Chd1l |
T |
C |
3: 97,469,959 (GRCm39) |
N856D |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 114,005,818 (GRCm39) |
D1650G |
unknown |
Het |
| Cx3cl1 |
T |
C |
8: 95,507,168 (GRCm39) |
V391A |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,723,617 (GRCm39) |
Y378C |
probably damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,554,150 (GRCm39) |
S156G |
probably benign |
Het |
| Cyp3a11 |
C |
T |
5: 145,795,612 (GRCm39) |
M446I |
probably damaging |
Het |
| D7Ertd443e |
G |
A |
7: 133,950,485 (GRCm39) |
T396I |
possibly damaging |
Het |
| Dusp4 |
C |
A |
8: 35,275,092 (GRCm39) |
N70K |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,632,226 (GRCm39) |
A4499T |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,740,758 (GRCm39) |
D266G |
possibly damaging |
Het |
| Eomes |
T |
C |
9: 118,314,036 (GRCm39) |
S694P |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,621,792 (GRCm39) |
V473A |
probably benign |
Het |
| Fmo5 |
T |
A |
3: 97,552,962 (GRCm39) |
N303K |
probably damaging |
Het |
| Garin1b |
G |
A |
6: 29,334,030 (GRCm39) |
C296Y |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,653,802 (GRCm39) |
E103G |
probably benign |
Het |
| Gjb6 |
T |
C |
14: 57,362,259 (GRCm39) |
M1V |
probably null |
Het |
| Gm17067 |
A |
G |
7: 42,358,073 (GRCm39) |
L143P |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,563,399 (GRCm39) |
D1613G |
unknown |
Het |
| Hmgn3 |
T |
C |
9: 82,993,159 (GRCm39) |
K50E |
probably damaging |
Het |
| Hoxc11 |
G |
A |
15: 102,863,186 (GRCm39) |
G76S |
possibly damaging |
Het |
| Ighv1-9 |
A |
T |
12: 114,547,448 (GRCm39) |
M31K |
probably benign |
Het |
| Ighv2-2 |
A |
T |
12: 113,552,189 (GRCm39) |
C16* |
probably null |
Het |
| Kidins220 |
T |
G |
12: 25,086,533 (GRCm39) |
F989C |
probably damaging |
Het |
| Krtap28-13 |
A |
G |
1: 83,039,086 (GRCm39) |
K124E |
unknown |
Het |
| Mast4 |
A |
G |
13: 102,887,986 (GRCm39) |
V1141A |
probably damaging |
Het |
| Myb |
A |
T |
10: 21,002,136 (GRCm39) |
M735K |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,434 (GRCm39) |
|
probably null |
Het |
| Naa60 |
G |
A |
16: 3,718,507 (GRCm39) |
G113D |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,725,382 (GRCm39) |
I461V |
probably benign |
Het |
| Nphp4 |
C |
A |
4: 152,645,778 (GRCm39) |
A1262D |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,976,007 (GRCm39) |
V2040E |
possibly damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,351 (GRCm39) |
I98V |
probably benign |
Het |
| Or9a2 |
A |
G |
6: 41,749,057 (GRCm39) |
Y59H |
probably damaging |
Het |
| Ormdl1 |
T |
A |
1: 53,344,626 (GRCm39) |
F63I |
possibly damaging |
Het |
| Otulinl |
A |
G |
15: 27,664,644 (GRCm39) |
Y76H |
probably damaging |
Het |
| Phc1 |
C |
T |
6: 122,302,774 (GRCm39) |
V250M |
probably damaging |
Het |
| Pik3c2b |
G |
A |
1: 133,017,984 (GRCm39) |
V949M |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Prmt8 |
T |
A |
6: 127,688,810 (GRCm39) |
M187L |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,225,547 (GRCm39) |
I513V |
probably damaging |
Het |
| Rad17 |
A |
C |
13: 100,781,681 (GRCm39) |
S39A |
possibly damaging |
Het |
| Rbck1 |
T |
C |
2: 152,160,700 (GRCm39) |
Y412C |
probably damaging |
Het |
| Rfc3 |
C |
A |
5: 151,569,100 (GRCm39) |
M152I |
probably damaging |
Het |
| Scn11a |
C |
A |
9: 119,608,047 (GRCm39) |
C1028F |
probably damaging |
Het |
| Sfmbt2 |
C |
A |
2: 10,466,236 (GRCm39) |
P357Q |
probably damaging |
Het |
| Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
| St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
| Stmnd1 |
A |
G |
13: 46,452,936 (GRCm39) |
N204S |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,802,350 (GRCm39) |
T518A |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,220,938 (GRCm39) |
D597G |
probably damaging |
Het |
| Zfp457 |
G |
A |
13: 67,441,862 (GRCm39) |
Q238* |
probably null |
Het |
| Zfp647 |
T |
C |
15: 76,795,928 (GRCm39) |
D244G |
probably damaging |
Het |
| Zfp870 |
T |
A |
17: 33,102,843 (GRCm39) |
E162V |
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 |
|
R1655:Tdrd1
|
UTSW |
19 |
56,831,648 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- TAGCTACCTGAGGTCACCTTC -3'
(R):5'- AGGGCATGGTTTCAGTCTTTAC -3'
Sequencing Primer
(F):5'- CTGCCTGTAGAAAGTAGCCTCAG -3'
(R):5'- CTGATGTAATAAGATCTCATCCATGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation