Incidental Mutation 'R8532:Tdrd7'
ID |
659094 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrd7
|
Ensembl Gene |
ENSMUSG00000035517 |
Gene Name |
tudor domain containing 7 |
Synonyms |
5730495N10Rik |
MMRRC Submission |
068502-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.540)
|
Stock # |
R8532 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
45965334-46034761 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46016920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 654
(T654A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102929]
[ENSMUST00000107777]
|
AlphaFold |
Q8K1H1 |
PDB Structure |
NMR structure of the first lotus domain of tudor domain-containing protein 7 [SOLUTION NMR]
NMR structure of the second and third lotus domains of tudor domain-containing protein 7 (NMR ensemble overlay for Lotus #2) [SOLUTION NMR]
NMR structure of the second and third lotus domains of tudor domain-containing protein 7 (NMR ensemble overlay for Lotus #3) [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102929
AA Change: T654A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099993 Gene: ENSMUSG00000035517 AA Change: T654A
Domain | Start | End | E-Value | Type |
Pfam:OST-HTH
|
3 |
73 |
2.6e-10 |
PFAM |
internal_repeat_1
|
223 |
300 |
2.94e-9 |
PROSPERO |
low complexity region
|
302 |
318 |
N/A |
INTRINSIC |
internal_repeat_1
|
326 |
400 |
2.94e-9 |
PROSPERO |
TUDOR
|
500 |
556 |
2.08e-5 |
SMART |
TUDOR
|
690 |
746 |
1.66e-4 |
SMART |
TUDOR
|
945 |
1001 |
4.03e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107777
AA Change: T687A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103406 Gene: ENSMUSG00000035517 AA Change: T687A
Domain | Start | End | E-Value | Type |
Pfam:OST-HTH
|
36 |
106 |
5.7e-11 |
PFAM |
internal_repeat_1
|
256 |
333 |
3.1e-9 |
PROSPERO |
low complexity region
|
335 |
351 |
N/A |
INTRINSIC |
internal_repeat_1
|
359 |
433 |
3.1e-9 |
PROSPERO |
TUDOR
|
533 |
589 |
2.08e-5 |
SMART |
TUDOR
|
723 |
779 |
1.66e-4 |
SMART |
TUDOR
|
978 |
1034 |
4.03e0 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] PHENOTYPE: Homozygous inactivation of this gene causes arrest of spermatogenesis, male sterility, glaucoma, and cataracts. Aging mice homozygous for an ENU-induced (null) allele show additional ocular phenotypes including an enlarged anterior chamber, lens extrusion, a flat iris, uveitis, and optic neuropathy. [provided by MGI curators]
|
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
A |
2: 69,090,035 (GRCm39) |
V950L |
possibly damaging |
Het |
Acsl6 |
T |
A |
11: 54,218,001 (GRCm39) |
V238E |
probably damaging |
Het |
Adam2 |
C |
A |
14: 66,293,970 (GRCm39) |
A286S |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,412,679 (GRCm39) |
I1215N |
probably damaging |
Het |
Anxa2 |
T |
C |
9: 69,374,594 (GRCm39) |
Y24H |
probably benign |
Het |
Brms1l |
T |
C |
12: 55,891,264 (GRCm39) |
L106P |
probably damaging |
Het |
Cacna1e |
A |
T |
1: 154,341,510 (GRCm39) |
L1166Q |
probably damaging |
Het |
Ccdc110 |
T |
C |
8: 46,396,032 (GRCm39) |
L641P |
probably damaging |
Het |
Cep78 |
T |
A |
19: 15,936,948 (GRCm39) |
D586V |
possibly damaging |
Het |
Chek1 |
T |
C |
9: 36,630,988 (GRCm39) |
D142G |
probably benign |
Het |
Dennd1b |
A |
G |
1: 139,097,912 (GRCm39) |
|
probably benign |
Het |
Eif2b5 |
T |
C |
16: 20,323,956 (GRCm39) |
V433A |
probably damaging |
Het |
Enpep |
A |
T |
3: 129,070,302 (GRCm39) |
Y868* |
probably null |
Het |
Fam149a |
T |
A |
8: 45,801,991 (GRCm39) |
T414S |
possibly damaging |
Het |
Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
Gm3604 |
A |
T |
13: 62,516,769 (GRCm39) |
C530S |
possibly damaging |
Het |
Gtf2e2 |
T |
C |
8: 34,248,633 (GRCm39) |
F140S |
probably damaging |
Het |
Ighv1-63 |
T |
C |
12: 115,459,270 (GRCm39) |
D109G |
probably damaging |
Het |
Igkv3-9 |
G |
C |
6: 70,565,706 (GRCm39) |
V102L |
possibly damaging |
Het |
Kif12 |
G |
A |
4: 63,087,656 (GRCm39) |
Q276* |
probably null |
Het |
Lrba |
C |
T |
3: 86,664,790 (GRCm39) |
R557C |
probably damaging |
Het |
Matn2 |
C |
A |
15: 34,316,699 (GRCm39) |
Q14K |
probably benign |
Het |
Mical2 |
C |
A |
7: 111,917,751 (GRCm39) |
F369L |
probably damaging |
Het |
Or13a17 |
T |
C |
7: 140,271,712 (GRCm39) |
V298A |
probably damaging |
Het |
Or52e8b |
T |
C |
7: 104,673,773 (GRCm39) |
Y138C |
probably damaging |
Het |
Or9m2 |
A |
G |
2: 87,820,913 (GRCm39) |
T153A |
probably damaging |
Het |
Pramel1 |
A |
G |
4: 143,125,125 (GRCm39) |
T350A |
probably benign |
Het |
Rcbtb1 |
T |
A |
14: 59,447,973 (GRCm39) |
C72* |
probably null |
Het |
Ros1 |
T |
G |
10: 51,974,852 (GRCm39) |
T1578P |
possibly damaging |
Het |
Rps6kb2 |
A |
T |
19: 4,209,243 (GRCm39) |
I200N |
probably damaging |
Het |
Slc17a4 |
C |
A |
13: 24,088,718 (GRCm39) |
W223L |
probably damaging |
Het |
Slitrk5 |
A |
T |
14: 111,916,909 (GRCm39) |
M178L |
probably benign |
Het |
Snrpa |
A |
G |
7: 26,891,027 (GRCm39) |
|
probably null |
Het |
Syt10 |
C |
T |
15: 89,676,889 (GRCm39) |
E366K |
probably damaging |
Het |
Tbc1d16 |
A |
G |
11: 119,045,993 (GRCm39) |
F484L |
probably benign |
Het |
Tbc1d30 |
A |
T |
10: 121,103,335 (GRCm39) |
W566R |
probably damaging |
Het |
Tcaf1 |
A |
T |
6: 42,655,065 (GRCm39) |
I551K |
probably damaging |
Het |
Timm44 |
A |
T |
8: 4,310,549 (GRCm39) |
I401N |
possibly damaging |
Het |
Xcl1 |
T |
A |
1: 164,759,515 (GRCm39) |
T62S |
probably damaging |
Het |
Zbtb11 |
A |
T |
16: 55,811,252 (GRCm39) |
H470L |
probably benign |
Het |
Zfp57 |
A |
G |
17: 37,320,793 (GRCm39) |
T213A |
possibly damaging |
Het |
Zfp715 |
A |
C |
7: 42,948,829 (GRCm39) |
I377S |
possibly damaging |
Het |
Zfp715 |
A |
T |
7: 42,949,134 (GRCm39) |
D275E |
probably benign |
Het |
|
Other mutations in Tdrd7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00491:Tdrd7
|
APN |
4 |
46,010,889 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01541:Tdrd7
|
APN |
4 |
46,018,551 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01901:Tdrd7
|
APN |
4 |
45,989,225 (GRCm39) |
splice site |
probably benign |
|
IGL02812:Tdrd7
|
APN |
4 |
45,994,406 (GRCm39) |
missense |
probably benign |
0.08 |
A5278:Tdrd7
|
UTSW |
4 |
46,007,622 (GRCm39) |
missense |
probably benign |
0.01 |
R0049:Tdrd7
|
UTSW |
4 |
45,987,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Tdrd7
|
UTSW |
4 |
45,987,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Tdrd7
|
UTSW |
4 |
46,016,987 (GRCm39) |
missense |
probably benign |
0.01 |
R0452:Tdrd7
|
UTSW |
4 |
45,965,488 (GRCm39) |
splice site |
probably benign |
|
R0639:Tdrd7
|
UTSW |
4 |
45,989,102 (GRCm39) |
missense |
probably benign |
0.00 |
R0681:Tdrd7
|
UTSW |
4 |
46,016,879 (GRCm39) |
missense |
probably benign |
0.45 |
R0925:Tdrd7
|
UTSW |
4 |
46,025,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R0944:Tdrd7
|
UTSW |
4 |
46,029,762 (GRCm39) |
missense |
probably benign |
0.01 |
R1586:Tdrd7
|
UTSW |
4 |
45,994,445 (GRCm39) |
missense |
probably benign |
0.39 |
R1770:Tdrd7
|
UTSW |
4 |
45,987,681 (GRCm39) |
splice site |
probably benign |
|
R1945:Tdrd7
|
UTSW |
4 |
45,965,474 (GRCm39) |
missense |
probably benign |
0.00 |
R4400:Tdrd7
|
UTSW |
4 |
46,005,540 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4457:Tdrd7
|
UTSW |
4 |
46,007,526 (GRCm39) |
missense |
probably benign |
0.04 |
R4898:Tdrd7
|
UTSW |
4 |
46,005,616 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5152:Tdrd7
|
UTSW |
4 |
46,013,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R5197:Tdrd7
|
UTSW |
4 |
46,034,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R5326:Tdrd7
|
UTSW |
4 |
46,029,757 (GRCm39) |
missense |
probably benign |
0.01 |
R5473:Tdrd7
|
UTSW |
4 |
46,020,877 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5524:Tdrd7
|
UTSW |
4 |
46,034,301 (GRCm39) |
missense |
probably benign |
0.31 |
R5542:Tdrd7
|
UTSW |
4 |
46,029,757 (GRCm39) |
missense |
probably benign |
0.01 |
R5554:Tdrd7
|
UTSW |
4 |
46,005,358 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5588:Tdrd7
|
UTSW |
4 |
45,992,225 (GRCm39) |
missense |
probably benign |
0.18 |
R5776:Tdrd7
|
UTSW |
4 |
46,005,689 (GRCm39) |
missense |
probably benign |
0.00 |
R5786:Tdrd7
|
UTSW |
4 |
45,989,082 (GRCm39) |
missense |
probably benign |
0.09 |
R6063:Tdrd7
|
UTSW |
4 |
46,005,486 (GRCm39) |
missense |
probably benign |
0.00 |
R6340:Tdrd7
|
UTSW |
4 |
45,994,517 (GRCm39) |
missense |
probably damaging |
0.99 |
R7130:Tdrd7
|
UTSW |
4 |
46,029,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R7369:Tdrd7
|
UTSW |
4 |
46,013,239 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7470:Tdrd7
|
UTSW |
4 |
45,990,144 (GRCm39) |
missense |
probably benign |
0.32 |
R7876:Tdrd7
|
UTSW |
4 |
46,025,684 (GRCm39) |
missense |
probably benign |
|
R7999:Tdrd7
|
UTSW |
4 |
46,010,902 (GRCm39) |
critical splice donor site |
probably null |
|
R8042:Tdrd7
|
UTSW |
4 |
45,987,516 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8058:Tdrd7
|
UTSW |
4 |
46,034,309 (GRCm39) |
missense |
probably benign |
0.34 |
R8771:Tdrd7
|
UTSW |
4 |
46,010,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R8836:Tdrd7
|
UTSW |
4 |
45,987,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R9033:Tdrd7
|
UTSW |
4 |
46,007,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R9313:Tdrd7
|
UTSW |
4 |
46,005,319 (GRCm39) |
missense |
probably benign |
0.00 |
R9390:Tdrd7
|
UTSW |
4 |
46,005,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R9683:Tdrd7
|
UTSW |
4 |
46,025,946 (GRCm39) |
missense |
probably damaging |
0.99 |
R9696:Tdrd7
|
UTSW |
4 |
46,016,888 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9745:Tdrd7
|
UTSW |
4 |
45,994,310 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0063:Tdrd7
|
UTSW |
4 |
45,992,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCCAAAGTTAAGTGCTTTGC -3'
(R):5'- CCCCAAGGCTCTAAAATATGGATTTTC -3'
Sequencing Primer
(F):5'- ATTACCCACGTTGAGGCTAG -3'
(R):5'- GGCTCTAAAATATGGATTTTCTACCC -3'
|
Posted On |
2021-01-18 |