Incidental Mutation 'R1508:Tdrd1'
ID |
168100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrd1
|
Ensembl Gene |
ENSMUSG00000025081 |
Gene Name |
tudor domain containing 1 |
Synonyms |
MTR-1 |
MMRRC Submission |
040869-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.382)
|
Stock # |
R1508 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
56814641-56858444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56839790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 617
(E617K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078723]
[ENSMUST00000111604]
[ENSMUST00000111606]
[ENSMUST00000121249]
|
AlphaFold |
Q99MV1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078723
AA Change: E617K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000077785 Gene: ENSMUSG00000025081 AA Change: E617K
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: E617K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107231 Gene: ENSMUSG00000025081 AA Change: E617K
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: E617K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107233 Gene: ENSMUSG00000025081 AA Change: E617K
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: E617K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112786 Gene: ENSMUSG00000025081 AA Change: E617K
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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl4 |
T |
C |
4: 111,513,595 (GRCm39) |
I447T |
probably benign |
Het |
Albfm1 |
A |
G |
5: 90,729,780 (GRCm39) |
E401G |
probably benign |
Het |
Alpk2 |
C |
A |
18: 65,482,376 (GRCm39) |
G544V |
probably damaging |
Het |
Apob |
T |
C |
12: 8,061,481 (GRCm39) |
I3321T |
possibly damaging |
Het |
Ccdc47 |
C |
T |
11: 106,093,242 (GRCm39) |
D70N |
probably damaging |
Het |
Ceacam13 |
T |
A |
7: 17,744,996 (GRCm39) |
V22D |
possibly damaging |
Het |
Cep76 |
A |
G |
18: 67,756,358 (GRCm39) |
M491T |
probably damaging |
Het |
Clec4a3 |
A |
T |
6: 122,944,467 (GRCm39) |
N171I |
probably benign |
Het |
Col20a1 |
A |
G |
2: 180,634,370 (GRCm39) |
I112V |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,433,557 (GRCm39) |
L1462H |
unknown |
Het |
Cubn |
A |
G |
2: 13,431,916 (GRCm39) |
F1226L |
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,422,250 (GRCm39) |
I77K |
possibly damaging |
Het |
Dcaf1 |
A |
T |
9: 106,731,376 (GRCm39) |
T618S |
probably damaging |
Het |
Echdc3 |
A |
T |
2: 6,211,231 (GRCm39) |
S129T |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,601,503 (GRCm39) |
V272A |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,479,899 (GRCm39) |
F2982L |
probably benign |
Het |
Gm9476 |
A |
T |
10: 100,142,700 (GRCm39) |
|
noncoding transcript |
Het |
Golga1 |
A |
G |
2: 38,913,261 (GRCm39) |
M542T |
probably benign |
Het |
H2-D1 |
T |
A |
17: 35,482,844 (GRCm39) |
C125S |
probably damaging |
Het |
Jazf1 |
G |
A |
6: 52,789,166 (GRCm39) |
H103Y |
probably damaging |
Het |
Klhl12 |
T |
C |
1: 134,416,712 (GRCm39) |
V478A |
possibly damaging |
Het |
Lpcat2b |
A |
T |
5: 107,581,330 (GRCm39) |
T220S |
probably damaging |
Het |
Myocd |
C |
T |
11: 65,075,342 (GRCm39) |
C594Y |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,331,735 (GRCm39) |
E700G |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,332,678 (GRCm39) |
V251A |
possibly damaging |
Het |
Or6k2 |
T |
A |
1: 173,986,930 (GRCm39) |
M197K |
possibly damaging |
Het |
Papln |
A |
G |
12: 83,829,690 (GRCm39) |
Q937R |
probably damaging |
Het |
Pex14 |
T |
C |
4: 149,052,029 (GRCm39) |
R147G |
probably damaging |
Het |
Plppr3 |
A |
T |
10: 79,703,374 (GRCm39) |
Y37N |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,955,654 (GRCm39) |
T522A |
probably benign |
Het |
Ppp3cb |
T |
C |
14: 20,574,492 (GRCm39) |
N201S |
probably damaging |
Het |
Prf1 |
A |
G |
10: 61,139,329 (GRCm39) |
D429G |
probably damaging |
Het |
Ptprn2 |
T |
C |
12: 117,148,342 (GRCm39) |
S701P |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,268,341 (GRCm39) |
T1309I |
possibly damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,487,667 (GRCm39) |
M1647K |
probably damaging |
Het |
Skint11 |
T |
C |
4: 114,088,963 (GRCm39) |
|
probably null |
Het |
Slc8a2 |
T |
C |
7: 15,874,522 (GRCm39) |
Y257H |
probably benign |
Het |
Slfn1 |
T |
A |
11: 83,012,181 (GRCm39) |
I99N |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,349,591 (GRCm39) |
T282A |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,461,448 (GRCm39) |
D228V |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,143,072 (GRCm39) |
N1031S |
probably benign |
Het |
Supt6 |
A |
G |
11: 78,107,029 (GRCm39) |
|
probably null |
Het |
Tex15 |
C |
G |
8: 34,066,880 (GRCm39) |
F2103L |
probably damaging |
Het |
Trim21 |
T |
A |
7: 102,208,783 (GRCm39) |
Q312L |
possibly damaging |
Het |
Trim56 |
C |
T |
5: 137,142,791 (GRCm39) |
A242T |
probably benign |
Het |
Usp4 |
T |
C |
9: 108,249,873 (GRCm39) |
V467A |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,589,886 (GRCm39) |
I677L |
probably benign |
Het |
Vstm4 |
T |
C |
14: 32,585,511 (GRCm39) |
V26A |
probably damaging |
Het |
Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
Zfat |
T |
A |
15: 68,050,600 (GRCm39) |
K807I |
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 |
|
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'- AAAGCCGGTATTCCTTCCTGGATTG -3'
(R):5'- GATGGCAAAGCCCGAGTCTATGAG -3'
Sequencing Primer
(F):5'- tgtttgtttgtttgtttgtttgtttg -3'
(R):5'- ACTCTCACTGTGACCATCCT -3'
|
Posted On |
2014-04-13 |