Incidental Mutation 'R2201:Tdrd1'
| ID |
238693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd1
|
| Ensembl Gene |
ENSMUSG00000025081 |
| Gene Name |
tudor domain containing 1 |
| Synonyms |
MTR-1 |
| MMRRC Submission |
040203-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R2201 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56847094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 912
(H912N)
|
| 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: H912N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: H912N
| 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: H912N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: H912N
| 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: H912N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: H912N
| 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: H912N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: H912N
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (59/60) |
| 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 |
|---|
| A2ml1 |
A |
T |
6: 128,524,268 (GRCm39) |
N1121K |
probably null |
Het |
| Actr10 |
A |
G |
12: 71,006,795 (GRCm39) |
N351D |
probably damaging |
Het |
| Adcy7 |
G |
A |
8: 89,044,606 (GRCm39) |
A500T |
probably damaging |
Het |
| Ankrd35 |
T |
C |
3: 96,586,564 (GRCm39) |
I80T |
possibly damaging |
Het |
| Arap2 |
G |
A |
5: 62,864,028 (GRCm39) |
T532I |
probably damaging |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Cc2d2a |
T |
C |
5: 43,841,375 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,224,827 (GRCm39) |
M254K |
probably benign |
Het |
| Clic4 |
A |
G |
4: 134,950,850 (GRCm39) |
S114P |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,150,363 (GRCm39) |
Y213C |
probably damaging |
Het |
| Ddx28 |
A |
G |
8: 106,737,206 (GRCm39) |
V284A |
probably damaging |
Het |
| Dnase2b |
T |
A |
3: 146,290,443 (GRCm39) |
D176V |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,729,111 (GRCm39) |
N663K |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,235,002 (GRCm39) |
S3694T |
possibly damaging |
Het |
| Emilin1 |
T |
C |
5: 31,073,036 (GRCm39) |
S158P |
probably benign |
Het |
| Eng |
T |
C |
2: 32,563,752 (GRCm39) |
|
probably benign |
Het |
| Entrep2 |
T |
A |
7: 64,409,141 (GRCm39) |
M418L |
probably benign |
Het |
| Fdxr |
C |
A |
11: 115,161,208 (GRCm39) |
V223L |
probably benign |
Het |
| Fhip1b |
T |
C |
7: 105,037,398 (GRCm39) |
N395S |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,423,994 (GRCm39) |
M3148L |
probably benign |
Het |
| Hip1 |
A |
T |
5: 135,460,584 (GRCm39) |
D114E |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,706,183 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,437,179 (GRCm39) |
N487K |
probably damaging |
Het |
| Krt6a |
A |
G |
15: 101,601,606 (GRCm39) |
F172L |
probably benign |
Het |
| Megf8 |
C |
T |
7: 25,040,170 (GRCm39) |
R1034W |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,236,075 (GRCm39) |
D451N |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,125,225 (GRCm39) |
T1838A |
possibly damaging |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,073 (GRCm39) |
D302E |
probably damaging |
Het |
| Nbeal2 |
T |
A |
9: 110,459,318 (GRCm39) |
I1930F |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,116,432 (GRCm39) |
V732A |
probably benign |
Het |
| Npas4 |
A |
T |
19: 5,037,392 (GRCm39) |
Y301N |
probably benign |
Het |
| Nt5m |
A |
G |
11: 59,766,741 (GRCm39) |
K211E |
probably benign |
Het |
| Pfn4 |
A |
G |
12: 4,824,382 (GRCm39) |
|
probably null |
Het |
| Pfpl |
A |
C |
19: 12,407,843 (GRCm39) |
D698A |
probably benign |
Het |
| Pias1 |
G |
T |
9: 62,859,137 (GRCm39) |
H124N |
possibly damaging |
Het |
| Pja2 |
A |
T |
17: 64,618,162 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,531,465 (GRCm39) |
Y185H |
probably benign |
Het |
| Pomc |
T |
C |
12: 4,010,275 (GRCm39) |
L172S |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,875,533 (GRCm39) |
T129A |
probably damaging |
Het |
| Reep1 |
T |
C |
6: 71,750,278 (GRCm39) |
S97P |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,029,067 (GRCm39) |
I595N |
possibly damaging |
Het |
| Sap30 |
T |
C |
8: 57,938,506 (GRCm39) |
|
probably null |
Het |
| Slc1a7 |
T |
C |
4: 107,850,203 (GRCm39) |
Y105H |
probably damaging |
Het |
| Slc5a5 |
C |
T |
8: 71,345,102 (GRCm39) |
M68I |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,776,503 (GRCm39) |
Y791F |
probably benign |
Het |
| Tgm7 |
A |
T |
2: 120,929,062 (GRCm39) |
F278Y |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,283,039 (GRCm39) |
T310A |
probably damaging |
Het |
| Tmem256 |
T |
C |
11: 69,730,271 (GRCm39) |
I93T |
probably benign |
Het |
| Trpm2 |
G |
A |
10: 77,756,305 (GRCm39) |
Q1172* |
probably null |
Het |
| Ttll8 |
A |
G |
15: 88,818,156 (GRCm39) |
V173A |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,002,543 (GRCm39) |
S1497G |
possibly damaging |
Het |
| Ubr7 |
G |
A |
12: 102,727,764 (GRCm39) |
|
probably null |
Het |
| Vmn1r37 |
T |
A |
6: 66,708,878 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r14 |
A |
G |
5: 109,366,698 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,444 (GRCm39) |
I707V |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,395,507 (GRCm39) |
R1266G |
probably damaging |
Het |
| Wdr87-ps |
T |
A |
7: 29,235,950 (GRCm39) |
|
noncoding transcript |
Het |
| Zfhx4 |
A |
G |
3: 5,307,349 (GRCm39) |
N192D |
probably damaging |
Het |
| Zfp638 |
G |
C |
6: 83,906,500 (GRCm39) |
D222H |
probably damaging |
Het |
| Zscan29 |
A |
C |
2: 120,999,883 (GRCm39) |
V106G |
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 |
56,847,093 (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'- TTGTGGAAATCACCGCGAAC -3'
(R):5'- AGTTCCAGGGCTTCTGACAC -3'
Sequencing Primer
(F):5'- TCATCAGAGAGCAGTTGG -3'
(R):5'- AGGGCTTCTGACACCTCAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation