Incidental Mutation 'R8701:Tdrd1'
| ID |
669096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd1
|
| Ensembl Gene |
ENSMUSG00000025081 |
| Gene Name |
tudor domain containing 1 |
| Synonyms |
MTR-1 |
| MMRRC Submission |
068555-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R8701 (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 56839916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 659
(S659P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000078723
AA Change: S659P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: S659P
| 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 |
possibly damaging
Transcript: ENSMUST00000111604
AA Change: S659P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: S659P
| 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 |
possibly damaging
Transcript: ENSMUST00000111606
AA Change: S659P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: S659P
| 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 |
possibly damaging
Transcript: ENSMUST00000121249
AA Change: S659P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: S659P
| 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: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,836,785 (GRCm39) |
I659V |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,592,276 (GRCm39) |
D24V |
possibly damaging |
Het |
| Agtr1b |
A |
T |
3: 20,370,256 (GRCm39) |
F117I |
probably damaging |
Het |
| Aldh3b2 |
A |
G |
19: 4,028,448 (GRCm39) |
E116G |
probably damaging |
Het |
| Alox5 |
T |
A |
6: 116,390,787 (GRCm39) |
I455F |
possibly damaging |
Het |
| Arnt |
C |
T |
3: 95,401,076 (GRCm39) |
S675F |
possibly damaging |
Het |
| Camkv |
A |
G |
9: 107,825,240 (GRCm39) |
T414A |
possibly damaging |
Het |
| Ccn5 |
G |
T |
2: 163,670,786 (GRCm39) |
G98W |
probably damaging |
Het |
| Cd209c |
C |
T |
8: 3,995,892 (GRCm39) |
R6H |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,827,504 (GRCm39) |
Y456* |
probably null |
Het |
| Cnr1 |
A |
G |
4: 33,944,739 (GRCm39) |
I376V |
probably benign |
Het |
| Cyp2j12 |
T |
A |
4: 96,009,810 (GRCm39) |
K183M |
possibly damaging |
Het |
| Dact3 |
G |
T |
7: 16,619,201 (GRCm39) |
R232L |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,226,768 (GRCm39) |
T378M |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,803,911 (GRCm39) |
D79E |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,240,739 (GRCm39) |
Y195* |
probably null |
Het |
| Elovl1 |
A |
T |
4: 118,287,707 (GRCm39) |
M1L |
probably benign |
Het |
| Fam107a |
A |
G |
14: 8,298,755 (GRCm38) |
F124L |
probably damaging |
Het |
| Fam219a |
A |
G |
4: 41,520,283 (GRCm39) |
M155T |
probably damaging |
Het |
| Gm28308 |
C |
G |
6: 52,140,430 (GRCm39) |
|
probably benign |
Het |
| Gpr153 |
C |
T |
4: 152,363,558 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
A |
5: 134,245,077 (GRCm39) |
I445N |
probably damaging |
Het |
| Gzmb |
A |
T |
14: 56,497,817 (GRCm39) |
V141E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,631,008 (GRCm39) |
M930K |
probably benign |
Het |
| Hunk |
T |
A |
16: 90,183,498 (GRCm39) |
F52Y |
probably damaging |
Het |
| Il18rap |
A |
G |
1: 40,578,501 (GRCm39) |
E304G |
probably benign |
Het |
| Klk14 |
A |
G |
7: 43,343,566 (GRCm39) |
S133G |
possibly damaging |
Het |
| Man2b1 |
T |
C |
8: 85,821,782 (GRCm39) |
S695P |
probably damaging |
Het |
| Mccc1 |
A |
T |
3: 36,049,933 (GRCm39) |
D86E |
probably benign |
Het |
| Mcu |
T |
A |
10: 59,303,475 (GRCm39) |
I121F |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,136,045 (GRCm39) |
F90S |
possibly damaging |
Het |
| Muc2 |
A |
G |
7: 141,281,850 (GRCm39) |
D536G |
probably damaging |
Het |
| Naa11 |
T |
C |
5: 97,539,817 (GRCm39) |
S114G |
possibly damaging |
Het |
| Ncaph |
T |
C |
2: 126,948,058 (GRCm39) |
K676E |
probably benign |
Het |
| Neurl2 |
C |
T |
2: 164,675,054 (GRCm39) |
D103N |
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,030,121 (GRCm39) |
M278T |
probably benign |
Het |
| Or10g6 |
A |
G |
9: 39,933,815 (GRCm39) |
N42S |
probably damaging |
Het |
| Or4p4 |
A |
G |
2: 88,482,831 (GRCm39) |
I112V |
possibly damaging |
Het |
| Or51r1 |
A |
T |
7: 102,227,899 (GRCm39) |
M66L |
possibly damaging |
Het |
| Or8c19-ps1 |
A |
T |
9: 38,220,734 (GRCm39) |
L214F |
unknown |
Het |
| Or8g4 |
A |
T |
9: 39,662,210 (GRCm39) |
H176L |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,705,849 (GRCm39) |
Y484N |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,438,079 (GRCm39) |
Y3598C |
probably damaging |
Het |
| Plcg2 |
T |
A |
8: 118,308,416 (GRCm39) |
L336Q |
probably damaging |
Het |
| Ppp1r8 |
T |
C |
4: 132,557,953 (GRCm39) |
D207G |
possibly damaging |
Het |
| Prdm13 |
C |
T |
4: 21,678,615 (GRCm39) |
C625Y |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,862,495 (GRCm39) |
D480G |
possibly damaging |
Het |
| Rbm39 |
T |
A |
2: 156,003,507 (GRCm39) |
K291M |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rnf220 |
T |
C |
4: 117,347,190 (GRCm39) |
H74R |
probably damaging |
Het |
| Sp6 |
A |
T |
11: 96,913,090 (GRCm39) |
T268S |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,526 (GRCm39) |
V218D |
probably benign |
Het |
| Sphk2 |
A |
T |
7: 45,360,249 (GRCm39) |
V585E |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,155,026 (GRCm39) |
Q5638* |
probably null |
Het |
| Tas1r3 |
C |
T |
4: 155,945,503 (GRCm39) |
V573I |
probably benign |
Het |
| Tead4 |
T |
A |
6: 128,219,529 (GRCm39) |
K237N |
probably damaging |
Het |
| Tex24 |
T |
A |
8: 27,835,152 (GRCm39) |
C227S |
probably benign |
Het |
| Tom1 |
A |
T |
8: 75,778,796 (GRCm39) |
T174S |
probably benign |
Het |
| Tpm3 |
C |
T |
3: 89,994,987 (GRCm39) |
R168C |
possibly damaging |
Het |
| Trpv3 |
A |
G |
11: 73,169,762 (GRCm39) |
E111G |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,677,191 (GRCm39) |
D2040G |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,692,402 (GRCm39) |
T955A |
probably damaging |
Het |
| Vmn2r11 |
G |
A |
5: 109,195,556 (GRCm39) |
A590V |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,825,165 (GRCm39) |
R382G |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,215,025 (GRCm39) |
D84E |
unknown |
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 |
|
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 |
|
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'- CCTTTTAACGACTGTTTGTTAGGC -3'
(R):5'- CTGCTCATTTGAGTGTCACAC -3'
Sequencing Primer
(F):5'- CGTGAAGCCATCATTAGGAATTTGG -3'
(R):5'- CATTTGAGTGTCACACATTTCTGAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation