Incidental Mutation 'R1241:Tdrd1'
| ID |
152027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd1
|
| Ensembl Gene |
ENSMUSG00000025081 |
| Gene Name |
tudor domain containing 1 |
| Synonyms |
MTR-1 |
| MMRRC Submission |
039308-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R1241 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56850192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 985
(T985A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078723]
[ENSMUST00000111604]
[ENSMUST00000111606]
[ENSMUST00000121249]
|
| AlphaFold |
Q99MV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078723
AA Change: T985A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: T985A
| 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: T985A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: T985A
| 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: T985A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: T985A
| 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: T985A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: T985A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 9030619P08Rik |
A |
C |
15: 75,301,846 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1l2 |
T |
C |
10: 83,331,889 (GRCm39) |
I639V |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,601,241 (GRCm39) |
|
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,455,869 (GRCm39) |
Y299H |
probably damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,733,526 (GRCm39) |
|
probably benign |
Het |
| Atr |
G |
A |
9: 95,832,689 (GRCm39) |
V2574I |
probably benign |
Het |
| Atxn1l |
T |
A |
8: 110,459,612 (GRCm39) |
T217S |
probably benign |
Het |
| Ccdc85a |
A |
G |
11: 28,346,150 (GRCm39) |
S89P |
probably benign |
Het |
| Ccn5 |
T |
A |
2: 163,670,997 (GRCm39) |
M168K |
unknown |
Het |
| Cd209e |
A |
T |
8: 3,899,124 (GRCm39) |
I196N |
probably damaging |
Het |
| Cdhr4 |
A |
G |
9: 107,872,495 (GRCm39) |
S247G |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,809,470 (GRCm39) |
I502F |
probably damaging |
Het |
| Crisp4 |
T |
C |
1: 18,193,018 (GRCm39) |
Y233C |
probably damaging |
Het |
| Ctsb |
C |
A |
14: 63,376,553 (GRCm39) |
T261N |
probably benign |
Het |
| Ctsk |
T |
C |
3: 95,408,185 (GRCm39) |
F14L |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,407,385 (GRCm39) |
I2110V |
probably damaging |
Het |
| Dennd5b |
A |
G |
6: 148,969,988 (GRCm39) |
M155T |
probably benign |
Het |
| Echdc3 |
T |
C |
2: 6,217,611 (GRCm39) |
D54G |
probably benign |
Het |
| Egln3 |
G |
A |
12: 54,228,479 (GRCm39) |
T209I |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,214,447 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
A |
T |
4: 62,222,846 (GRCm39) |
S1018T |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,896,503 (GRCm38) |
I898T |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,536,456 (GRCm39) |
Y795F |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,267,614 (GRCm39) |
E417G |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,268 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
T |
C |
9: 69,941,615 (GRCm39) |
I318V |
probably benign |
Het |
| Gm11437 |
T |
A |
11: 84,055,454 (GRCm39) |
H54L |
possibly damaging |
Het |
| Huwe1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
X: 150,690,044 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
A |
13: 45,038,368 (GRCm39) |
|
probably benign |
Het |
| Kif5b |
A |
T |
18: 6,214,044 (GRCm39) |
V653E |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,274,365 (GRCm39) |
V2113A |
probably damaging |
Het |
| Knl1 |
C |
T |
2: 118,903,054 (GRCm39) |
T1585I |
probably benign |
Het |
| Mlxipl |
T |
A |
5: 135,161,572 (GRCm39) |
M497K |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,710,935 (GRCm39) |
W210R |
probably damaging |
Het |
| Mrps22 |
A |
G |
9: 98,476,748 (GRCm39) |
V207A |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,390,256 (GRCm39) |
I2111V |
possibly damaging |
Het |
| Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,965,461 (GRCm39) |
H484L |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,331,430 (GRCm39) |
D322V |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,636,947 (GRCm39) |
C1057R |
probably damaging |
Het |
| Ntsr1 |
T |
C |
2: 180,142,394 (GRCm39) |
S62P |
probably damaging |
Het |
| Nudt18 |
A |
G |
14: 70,816,867 (GRCm39) |
H157R |
probably benign |
Het |
| Or10s1 |
C |
A |
9: 39,986,192 (GRCm39) |
N200K |
probably damaging |
Het |
| Or5g25 |
T |
A |
2: 85,477,904 (GRCm39) |
T254S |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,857,002 (GRCm39) |
T435A |
probably damaging |
Het |
| Snx27 |
T |
C |
3: 94,427,540 (GRCm39) |
T312A |
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,061,720 (GRCm39) |
S429P |
probably damaging |
Het |
| Suclg2 |
A |
G |
6: 95,474,563 (GRCm39) |
|
probably benign |
Het |
| Tchh |
A |
T |
3: 93,352,279 (GRCm39) |
E573V |
unknown |
Het |
| Ttc7b |
A |
G |
12: 100,369,698 (GRCm39) |
I357T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,626,008 (GRCm39) |
E13271G |
probably damaging |
Het |
| Usp13 |
A |
G |
3: 32,969,857 (GRCm39) |
E661G |
probably damaging |
Het |
| Vasp |
T |
G |
7: 18,992,958 (GRCm39) |
|
probably benign |
Het |
| Vmn2r109 |
A |
T |
17: 20,775,503 (GRCm39) |
Y75N |
possibly damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,770 (GRCm39) |
N363Y |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,476 (GRCm39) |
N426K |
probably benign |
Het |
| Znhit2 |
C |
A |
19: 6,112,288 (GRCm39) |
N344K |
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 |
|
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'- TCCCAGAGGCTCCTCATAGTTCAAG -3'
(R):5'- TCCATTCCCAGGCAGCTCCTAAAG -3'
Sequencing Primer
(F):5'- AAGGCAACCAGTAGTCTATCTG -3'
(R):5'- CCAGGCAGCTCCTAAAGTATGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation