Incidental Mutation 'R1770:Tdrd7'
| ID |
196472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd7
|
| Ensembl Gene |
ENSMUSG00000035517 |
| Gene Name |
tudor domain containing 7 |
| Synonyms |
5730495N10Rik |
| MMRRC Submission |
039801-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.540)
|
| Stock # |
R1770 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45965334-46034761 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 45987681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102929]
[ENSMUST00000107777]
|
| AlphaFold |
Q8K1H1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102929
|
| SMART Domains |
Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
| 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 benign
Transcript: ENSMUST00000107777
|
| SMART Domains |
Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151422
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
92% (69/75) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
C |
12: 84,661,874 (GRCm39) |
T84A |
probably benign |
Het |
| Adgra1 |
T |
A |
7: 139,453,947 (GRCm39) |
Y161* |
probably null |
Het |
| Aldoart1 |
G |
T |
4: 72,770,173 (GRCm39) |
H212N |
probably benign |
Het |
| Aldob |
A |
G |
4: 49,536,861 (GRCm39) |
Y343H |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,391,235 (GRCm39) |
V2036E |
possibly damaging |
Het |
| Ass1 |
A |
G |
2: 31,376,528 (GRCm39) |
T131A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,945,293 (GRCm39) |
R1354H |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,228,108 (GRCm39) |
V71A |
probably benign |
Het |
| C4b |
T |
A |
17: 34,955,901 (GRCm39) |
N678I |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,357,657 (GRCm39) |
L64P |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,474,487 (GRCm39) |
S786P |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,751,042 (GRCm39) |
E296G |
possibly damaging |
Het |
| Chml |
G |
A |
1: 175,515,444 (GRCm39) |
T159I |
probably benign |
Het |
| Cntn3 |
C |
T |
6: 102,246,166 (GRCm39) |
E328K |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,214,983 (GRCm39) |
I35V |
possibly damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,070,642 (GRCm39) |
K275R |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,522,615 (GRCm39) |
E364G |
probably benign |
Het |
| Dcaf13 |
A |
T |
15: 38,993,633 (GRCm39) |
N242I |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,579,470 (GRCm39) |
V701A |
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,468,021 (GRCm39) |
T230S |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,456,200 (GRCm39) |
Y797N |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,064,417 (GRCm39) |
I4791K |
probably damaging |
Het |
| Gm3852 |
T |
C |
1: 46,051,048 (GRCm39) |
I45V |
possibly damaging |
Het |
| Gng4 |
A |
G |
13: 13,999,851 (GRCm39) |
D40G |
probably damaging |
Het |
| Gns |
A |
G |
10: 121,213,952 (GRCm39) |
D209G |
probably benign |
Het |
| Kif6 |
C |
A |
17: 50,210,677 (GRCm39) |
Q791K |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,123,082 (GRCm39) |
V569M |
possibly damaging |
Het |
| Krt1c |
A |
G |
15: 101,719,589 (GRCm39) |
S694P |
unknown |
Het |
| Lrrc8c |
A |
G |
5: 105,754,603 (GRCm39) |
Y126C |
probably damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,463,838 (GRCm39) |
V62A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,001 (GRCm39) |
R1907G |
unknown |
Het |
| Mertk |
A |
G |
2: 128,592,094 (GRCm39) |
I273V |
probably benign |
Het |
| Mfsd4b1 |
A |
G |
10: 39,879,223 (GRCm39) |
Y225H |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,229,619 (GRCm39) |
V684A |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 88,287,651 (GRCm39) |
W97* |
probably null |
Het |
| Mtmr10 |
A |
G |
7: 63,986,469 (GRCm39) |
I516V |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,761,813 (GRCm39) |
|
probably benign |
Het |
| Ndufs5 |
T |
C |
4: 123,606,661 (GRCm39) |
Y92C |
probably benign |
Het |
| Nlrp1b |
C |
T |
11: 71,050,979 (GRCm39) |
V1035I |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,009,132 (GRCm39) |
R308G |
possibly damaging |
Het |
| Or12e13 |
A |
G |
2: 87,663,643 (GRCm39) |
I87V |
probably benign |
Het |
| Pcdhb16 |
G |
T |
18: 37,612,233 (GRCm39) |
G398W |
probably damaging |
Het |
| Plpbp |
T |
A |
8: 27,543,326 (GRCm39) |
S237T |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,584,634 (GRCm39) |
F769I |
possibly damaging |
Het |
| Polk |
A |
G |
13: 96,631,950 (GRCm39) |
V261A |
probably damaging |
Het |
| Prss52 |
C |
T |
14: 64,351,082 (GRCm39) |
A289V |
probably damaging |
Het |
| Puf60 |
T |
C |
15: 75,942,723 (GRCm39) |
K407E |
probably benign |
Het |
| Pzp |
T |
C |
6: 128,462,580 (GRCm39) |
D1455G |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,167,301 (GRCm39) |
N1054S |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,684,567 (GRCm39) |
S1965P |
probably benign |
Het |
| Spryd7 |
T |
C |
14: 61,777,654 (GRCm39) |
Y142C |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,298,122 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
A |
G |
11: 32,572,464 (GRCm39) |
E935G |
possibly damaging |
Het |
| Tas2r115 |
G |
A |
6: 132,714,934 (GRCm39) |
R6C |
probably damaging |
Het |
| Trim29 |
A |
T |
9: 43,243,673 (GRCm39) |
Q564L |
probably damaging |
Het |
| Trim5 |
T |
C |
7: 103,925,868 (GRCm39) |
D231G |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,487,787 (GRCm39) |
K676E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,583,859 (GRCm39) |
R22383G |
probably damaging |
Het |
| Ugt1a2 |
A |
G |
1: 88,129,160 (GRCm39) |
I268V |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,667,852 (GRCm39) |
N330D |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,351,040 (GRCm39) |
H2822Y |
probably damaging |
Het |
| Vmn1r176 |
G |
A |
7: 23,534,946 (GRCm39) |
A69V |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,560 (GRCm39) |
Y613C |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,686,857 (GRCm39) |
W296R |
probably damaging |
Het |
| Zfp11 |
G |
A |
5: 129,734,822 (GRCm39) |
T213I |
possibly damaging |
Het |
| Zfp142 |
A |
T |
1: 74,618,790 (GRCm39) |
F193I |
probably damaging |
Het |
| Zfp764 |
G |
A |
7: 127,004,739 (GRCm39) |
Q131* |
probably null |
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 |
|
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 |
|
R8532:Tdrd7
|
UTSW |
4 |
46,016,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TTCAAAGATGCTAAGGGCTGTCCTG -3'
(R):5'- ACAAAAGAGCTTGTCCTCCGACTG -3'
Sequencing Primer
(F):5'- TGCAGTCTCATAAGAACGGG -3'
(R):5'- GTGAGAATATCCCAAATTCCCTGG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation