Incidental Mutation 'R7643:Tdrd1'
| ID |
590384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd1
|
| Ensembl Gene |
ENSMUSG00000025081 |
| Gene Name |
tudor domain containing 1 |
| Synonyms |
MTR-1 |
| MMRRC Submission |
045700-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R7643 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56826140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 144
(S144P)
|
| 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 damaging
Transcript: ENSMUST00000078723
AA Change: S144P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: S144P
| 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 damaging
Transcript: ENSMUST00000111604
AA Change: S144P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: S144P
| 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 damaging
Transcript: ENSMUST00000111606
AA Change: S144P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: S144P
| 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 damaging
Transcript: ENSMUST00000121249
AA Change: S144P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: S144P
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
A |
G |
9: 15,209,156 (GRCm39) |
F46S |
probably damaging |
Het |
| Acaca |
T |
C |
11: 84,229,182 (GRCm39) |
Y1670H |
probably damaging |
Het |
| Acrbp |
G |
A |
6: 125,030,795 (GRCm39) |
R272Q |
possibly damaging |
Het |
| Adcy6 |
T |
A |
15: 98,491,449 (GRCm39) |
Q1050L |
probably benign |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Ankrd13b |
A |
G |
11: 77,363,911 (GRCm39) |
V395A |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,126,820 (GRCm39) |
K310R |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,424,811 (GRCm39) |
D123G |
probably benign |
Het |
| Bst1 |
G |
A |
5: 43,997,791 (GRCm39) |
M263I |
probably benign |
Het |
| Ccdc7a |
C |
T |
8: 129,616,292 (GRCm39) |
G937E |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,373,415 (GRCm39) |
M1232V |
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,481,323 (GRCm39) |
Y186H |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,641,973 (GRCm39) |
H1203L |
probably benign |
Het |
| Emc7 |
A |
G |
2: 112,285,624 (GRCm39) |
E71G |
probably benign |
Het |
| Exoc3l4 |
G |
A |
12: 111,388,369 (GRCm39) |
|
probably benign |
Het |
| Fam83c |
A |
G |
2: 155,672,924 (GRCm39) |
F278L |
possibly damaging |
Het |
| Gabpb2 |
C |
A |
3: 95,107,536 (GRCm39) |
V180L |
probably benign |
Het |
| Gbp2b |
G |
T |
3: 142,309,370 (GRCm39) |
Q160H |
probably benign |
Het |
| Gm19965 |
C |
G |
1: 116,749,959 (GRCm39) |
Q547E |
unknown |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,810,114 (GRCm39) |
D1774E |
probably damaging |
Het |
| Gpr15 |
A |
C |
16: 58,538,179 (GRCm39) |
Y303* |
probably null |
Het |
| Greb1 |
T |
C |
12: 16,761,997 (GRCm39) |
D461G |
probably damaging |
Het |
| Gria4 |
T |
C |
9: 4,793,950 (GRCm39) |
N36S |
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,049,602 (GRCm39) |
I119V |
probably damaging |
Het |
| Ing5 |
T |
A |
1: 93,740,155 (GRCm39) |
D101E |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,456,709 (GRCm39) |
N297K |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
| Klf5 |
A |
G |
14: 99,550,614 (GRCm39) |
E397G |
possibly damaging |
Het |
| Krtap29-1 |
C |
T |
11: 99,869,024 (GRCm39) |
G286S |
probably damaging |
Het |
| Lrp2bp |
A |
T |
8: 46,473,564 (GRCm39) |
|
probably null |
Het |
| Marchf4 |
T |
G |
1: 72,486,379 (GRCm39) |
Q266H |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,781,863 (GRCm39) |
T1056A |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,613,914 (GRCm39) |
L1079P |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,583,701 (GRCm39) |
L85I |
probably benign |
Het |
| Nlgn2 |
G |
T |
11: 69,718,711 (GRCm39) |
Q290K |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 86,972,962 (GRCm39) |
E323V |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,013,247 (GRCm39) |
|
probably null |
Het |
| Or10d5b |
T |
A |
9: 39,886,117 (GRCm39) |
M1L |
unknown |
Het |
| Or14a257 |
C |
T |
7: 86,138,776 (GRCm39) |
|
probably null |
Het |
| Or51e1 |
C |
T |
7: 102,358,745 (GRCm39) |
T93I |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,230,474 (GRCm39) |
L117P |
probably damaging |
Het |
| Pde6c |
C |
A |
19: 38,129,869 (GRCm39) |
Q260K |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
| Qser1 |
A |
T |
2: 104,617,322 (GRCm39) |
Y1163* |
probably null |
Het |
| Rbm12 |
A |
T |
2: 155,940,137 (GRCm39) |
I45N |
unknown |
Het |
| Rictor |
T |
A |
15: 6,798,750 (GRCm39) |
Y332* |
probably null |
Het |
| Rpp14 |
C |
A |
14: 8,090,325 (GRCm38) |
S83* |
probably null |
Het |
| Sel1l3 |
C |
T |
5: 53,280,504 (GRCm39) |
|
probably null |
Het |
| Setd2 |
T |
C |
9: 110,396,908 (GRCm39) |
|
probably null |
Het |
| Spink5 |
A |
G |
18: 44,143,319 (GRCm39) |
T759A |
probably benign |
Het |
| Spon2 |
T |
A |
5: 33,374,800 (GRCm39) |
E2V |
probably benign |
Het |
| Tex15 |
A |
C |
8: 34,065,148 (GRCm39) |
Y1526S |
probably damaging |
Het |
| Tex55 |
A |
G |
16: 38,648,225 (GRCm39) |
Y295H |
probably benign |
Het |
| Tnfrsf21 |
T |
C |
17: 43,348,807 (GRCm39) |
S140P |
probably benign |
Het |
| Trav6-2 |
T |
A |
14: 52,904,899 (GRCm39) |
M11K |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,078,295 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,565,171 (GRCm39) |
N28352S |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,214,899 (GRCm39) |
I292V |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,216,333 (GRCm39) |
S211T |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,965,635 (GRCm39) |
I313T |
possibly damaging |
Het |
| Zfp106 |
C |
T |
2: 120,343,215 (GRCm39) |
R1811K |
probably benign |
Het |
| Zfp599 |
G |
T |
9: 22,161,188 (GRCm39) |
Q326K |
probably benign |
Het |
| Zscan4e |
A |
T |
7: 11,043,452 (GRCm39) |
M108K |
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 |
|
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 |
|
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'- TGCTTCCTTTCAGAGTTGGC -3'
(R):5'- ACACTGGGCATTACCTAAGCC -3'
Sequencing Primer
(F):5'- TCAGAGTTGGCCTTACACTTG -3'
(R):5'- GGGCATTACCTAAGCCATTCATAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation