Incidental Mutation 'R0735:Tdrd1'
ID |
68260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrd1
|
Ensembl Gene |
ENSMUSG00000025081 |
Gene Name |
tudor domain containing 1 |
Synonyms |
MTR-1 |
MMRRC Submission |
038916-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.382)
|
Stock # |
R0735 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 56854410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 1119
(K1119*)
|
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: K1119*
|
SMART Domains |
Protein: ENSMUSP00000077785 Gene: ENSMUSG00000025081 AA Change: K1119*
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: K1119*
|
SMART Domains |
Protein: ENSMUSP00000107231 Gene: ENSMUSG00000025081 AA Change: K1119*
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: K1119*
|
SMART Domains |
Protein: ENSMUSP00000107233 Gene: ENSMUSG00000025081 AA Change: K1119*
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: K1119*
|
SMART Domains |
Protein: ENSMUSP00000112786 Gene: ENSMUSG00000025081 AA Change: K1119*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.7%
- 20x: 91.8%
|
Validation Efficiency |
95% (73/77) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
T |
A |
14: 29,711,669 (GRCm39) |
M405K |
probably benign |
Het |
Adam10 |
G |
A |
9: 70,655,533 (GRCm39) |
V334I |
possibly damaging |
Het |
Adgra2 |
G |
T |
8: 27,607,346 (GRCm39) |
G686C |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,747,518 (GRCm39) |
I1623N |
probably damaging |
Het |
Astn1 |
A |
T |
1: 158,299,959 (GRCm39) |
T100S |
possibly damaging |
Het |
B3galt1 |
A |
C |
2: 67,948,923 (GRCm39) |
I213L |
possibly damaging |
Het |
B4galnt4 |
A |
G |
7: 140,644,236 (GRCm39) |
K101E |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,695,038 (GRCm39) |
I1552K |
possibly damaging |
Het |
Camsap2 |
A |
G |
1: 136,220,626 (GRCm39) |
S324P |
probably damaging |
Het |
Chrnb4 |
A |
G |
9: 54,951,084 (GRCm39) |
S60P |
probably damaging |
Het |
Cpne1 |
A |
G |
2: 155,920,670 (GRCm39) |
|
probably null |
Het |
Cubn |
G |
A |
2: 13,496,500 (GRCm39) |
|
probably benign |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Cxcl15 |
T |
C |
5: 90,949,153 (GRCm39) |
M106T |
probably benign |
Het |
Cyp2c23 |
A |
T |
19: 44,005,249 (GRCm39) |
M140K |
probably damaging |
Het |
Dgke |
A |
G |
11: 88,950,901 (GRCm39) |
F104S |
probably benign |
Het |
Dhx36 |
T |
A |
3: 62,380,150 (GRCm39) |
M849L |
probably benign |
Het |
Dnah7a |
C |
T |
1: 53,583,670 (GRCm39) |
E1522K |
possibly damaging |
Het |
Edil3 |
G |
T |
13: 89,325,297 (GRCm39) |
V219F |
probably damaging |
Het |
Egln1 |
A |
G |
8: 125,675,234 (GRCm39) |
V187A |
possibly damaging |
Het |
Fam193a |
T |
C |
5: 34,596,722 (GRCm39) |
I455T |
possibly damaging |
Het |
Fdft1 |
A |
T |
14: 63,400,869 (GRCm39) |
I88N |
probably damaging |
Het |
Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
Frs2 |
T |
A |
10: 116,910,487 (GRCm39) |
S292C |
probably damaging |
Het |
Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
Gpr153 |
T |
A |
4: 152,363,830 (GRCm39) |
C83* |
probably null |
Het |
H2-Q7 |
T |
G |
17: 35,659,162 (GRCm39) |
|
probably null |
Het |
Hsp90b1 |
A |
T |
10: 86,531,612 (GRCm39) |
|
probably benign |
Het |
Kcnk1 |
C |
A |
8: 126,752,028 (GRCm39) |
N211K |
probably damaging |
Het |
Klb |
T |
C |
5: 65,537,070 (GRCm39) |
V800A |
probably benign |
Het |
Lat2 |
T |
C |
5: 134,635,637 (GRCm39) |
Y59C |
probably damaging |
Het |
Mlkl |
A |
T |
8: 112,054,433 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Mtbp |
T |
A |
15: 55,426,338 (GRCm39) |
C93* |
probably null |
Het |
Myo7a |
A |
G |
7: 97,730,387 (GRCm39) |
|
probably benign |
Het |
Myt1 |
G |
A |
2: 181,449,180 (GRCm39) |
|
probably benign |
Het |
Ogfrl1 |
T |
C |
1: 23,414,835 (GRCm39) |
Q224R |
possibly damaging |
Het |
Or10j2 |
A |
G |
1: 173,098,569 (GRCm39) |
T276A |
probably benign |
Het |
Or56b2 |
A |
T |
7: 104,338,026 (GRCm39) |
H268L |
probably damaging |
Het |
Osbpl2 |
A |
G |
2: 179,792,083 (GRCm39) |
|
probably benign |
Het |
Pira13 |
T |
C |
7: 3,824,781 (GRCm39) |
T533A |
possibly damaging |
Het |
Plb1 |
C |
T |
5: 32,442,264 (GRCm39) |
T252M |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbsn |
T |
C |
6: 92,166,674 (GRCm39) |
T657A |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Rps6kb2 |
C |
A |
19: 4,207,882 (GRCm39) |
S348I |
probably benign |
Het |
Rsrp1 |
C |
T |
4: 134,651,568 (GRCm39) |
R111W |
unknown |
Het |
Ryr3 |
T |
C |
2: 112,563,327 (GRCm39) |
T2933A |
probably benign |
Het |
Scara5 |
A |
G |
14: 65,968,468 (GRCm39) |
D247G |
possibly damaging |
Het |
Slc7a11 |
C |
T |
3: 50,378,545 (GRCm39) |
S231N |
probably benign |
Het |
Sod2 |
A |
T |
17: 13,229,451 (GRCm39) |
N91Y |
probably damaging |
Het |
Spesp1 |
A |
T |
9: 62,179,967 (GRCm39) |
S314T |
probably benign |
Het |
St3gal1 |
C |
A |
15: 66,985,536 (GRCm39) |
M39I |
probably benign |
Het |
Stat6 |
A |
T |
10: 127,494,110 (GRCm39) |
I646F |
probably damaging |
Het |
Thbs2 |
A |
G |
17: 14,900,077 (GRCm39) |
I600T |
probably benign |
Het |
Tor1a |
A |
G |
2: 30,853,850 (GRCm39) |
V160A |
probably damaging |
Het |
Trdmt1 |
T |
G |
2: 13,528,249 (GRCm39) |
D104A |
probably benign |
Het |
Trim58 |
T |
C |
11: 58,542,219 (GRCm39) |
V393A |
probably benign |
Het |
Trip4 |
C |
T |
9: 65,792,200 (GRCm39) |
|
probably benign |
Het |
Trip6 |
T |
C |
5: 137,309,083 (GRCm39) |
E341G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,545,539 (GRCm39) |
I32595F |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,155,339 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
A |
1: 188,596,890 (GRCm39) |
V3877I |
probably benign |
Het |
Vmn1r29 |
G |
T |
6: 58,284,717 (GRCm39) |
G146C |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,315,707 (GRCm39) |
V704A |
probably benign |
Het |
Vmn2r7 |
C |
T |
3: 64,623,788 (GRCm39) |
M268I |
probably benign |
Het |
Wnt7b |
G |
A |
15: 85,421,696 (GRCm39) |
T248M |
probably damaging |
Het |
Xab2 |
G |
A |
8: 3,663,649 (GRCm39) |
P394S |
possibly damaging |
Het |
Zfp663 |
A |
G |
2: 165,200,995 (GRCm39) |
V13A |
probably 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 |
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 |
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'- TGCTGAGAAATGCCATGCTGAACC -3'
(R):5'- TGTTGCTCAGATCAAAGAGAACCCG -3'
Sequencing Primer
(F):5'- TGCCATGCTGAACCAGAGTG -3'
(R):5'- ATTCCAAAGCTCTCAGTCTCGAC -3'
|
Posted On |
2013-09-03 |