Incidental Mutation 'R7999:Tdrd7'
| ID |
616243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd7
|
| Ensembl Gene |
ENSMUSG00000035517 |
| Gene Name |
tudor domain containing 7 |
| Synonyms |
5730495N10Rik |
| MMRRC Submission |
046039-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.478)
|
| Stock # |
R7999 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45965334-46034761 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 46010902 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 null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,841,580 (GRCm39) |
E289G |
probably benign |
Het |
| Armc2 |
C |
T |
10: 41,887,954 (GRCm39) |
E10K |
possibly damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,569,348 (GRCm39) |
|
probably null |
Het |
| B3galnt1 |
A |
G |
3: 69,482,548 (GRCm39) |
C238R |
probably damaging |
Het |
| Bak1 |
A |
G |
17: 27,240,280 (GRCm39) |
L129P |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,195,404 (GRCm39) |
F1272L |
possibly damaging |
Het |
| C2cd3 |
G |
A |
7: 100,109,096 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
A |
T |
2: 24,540,638 (GRCm39) |
V1363E |
probably damaging |
Het |
| Capn11 |
T |
C |
17: 45,950,132 (GRCm39) |
N344S |
probably damaging |
Het |
| Ces1f |
A |
T |
8: 93,989,623 (GRCm39) |
V431E |
possibly damaging |
Het |
| Cog3 |
G |
T |
14: 75,984,533 (GRCm39) |
S94Y |
possibly damaging |
Het |
| Defa29 |
A |
T |
8: 21,816,859 (GRCm39) |
S45T |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,579,372 (GRCm39) |
V753L |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,802,322 (GRCm39) |
D32G |
probably benign |
Het |
| Dnajc24 |
T |
A |
2: 105,811,365 (GRCm39) |
N70I |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,113,948 (GRCm39) |
V1195I |
probably benign |
Het |
| Enam |
A |
T |
5: 88,651,561 (GRCm39) |
R1023S |
probably benign |
Het |
| Ephx4 |
A |
T |
5: 107,567,699 (GRCm39) |
Q219L |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,993,204 (GRCm39) |
T1226A |
probably benign |
Het |
| Eppk1 |
T |
C |
15: 75,993,335 (GRCm39) |
Q1182R |
probably benign |
Het |
| Fiz1 |
A |
T |
7: 5,011,997 (GRCm39) |
S174T |
probably benign |
Het |
| Ggnbp1 |
C |
T |
17: 27,248,619 (GRCm39) |
R63C |
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gsdmd |
T |
A |
15: 75,735,295 (GRCm39) |
I13N |
probably damaging |
Het |
| Gtpbp4 |
T |
C |
13: 9,037,322 (GRCm39) |
D292G |
probably damaging |
Het |
| Hnf1a |
A |
T |
5: 115,098,233 (GRCm39) |
L123* |
probably null |
Het |
| Ints11 |
A |
G |
4: 155,971,413 (GRCm39) |
D309G |
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,874,407 (GRCm39) |
S789P |
probably benign |
Het |
| Jakmip2 |
G |
A |
18: 43,696,398 (GRCm39) |
A517V |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,174,935 (GRCm39) |
Y270H |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,276,199 (GRCm39) |
S1767P |
probably damaging |
Het |
| Lonp2 |
A |
G |
8: 87,361,537 (GRCm39) |
D238G |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,059,449 (GRCm39) |
W259R |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,119,879 (GRCm39) |
D250N |
probably benign |
Het |
| Mre11a |
A |
T |
9: 14,710,965 (GRCm39) |
R49* |
probably null |
Het |
| Mug1 |
T |
C |
6: 121,857,855 (GRCm39) |
L1116P |
possibly damaging |
Het |
| Mup9 |
A |
G |
4: 60,374,202 (GRCm39) |
S234P |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,914 (GRCm39) |
F222L |
possibly damaging |
Het |
| Nr2e3 |
A |
G |
9: 59,856,282 (GRCm39) |
V85A |
probably damaging |
Het |
| Or4a79 |
A |
G |
2: 89,552,344 (GRCm39) |
I37T |
probably benign |
Het |
| Prl3d2 |
A |
G |
13: 27,307,949 (GRCm39) |
T77A |
probably benign |
Het |
| Prpsap1 |
A |
T |
11: 116,381,042 (GRCm39) |
M1K |
probably null |
Het |
| Prrc2b |
C |
T |
2: 32,084,426 (GRCm39) |
T297M |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,681,805 (GRCm39) |
F48S |
probably benign |
Het |
| Rbm24 |
A |
T |
13: 46,572,507 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ren1 |
C |
A |
1: 133,282,604 (GRCm39) |
T103K |
probably damaging |
Het |
| Rpf2 |
C |
T |
10: 40,099,880 (GRCm39) |
G260S |
probably damaging |
Het |
| Sall4 |
C |
T |
2: 168,594,561 (GRCm39) |
G862D |
probably damaging |
Het |
| Samd4 |
G |
T |
14: 47,301,704 (GRCm39) |
R336L |
probably damaging |
Het |
| Shoc1 |
G |
C |
4: 59,094,162 (GRCm39) |
F187L |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,913,083 (GRCm39) |
N1611S |
probably benign |
Het |
| Skil |
A |
G |
3: 31,151,751 (GRCm39) |
H91R |
possibly damaging |
Het |
| Snip1 |
T |
C |
4: 124,965,174 (GRCm39) |
V193A |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,852,663 (GRCm39) |
I87N |
probably damaging |
Het |
| Syna |
T |
C |
5: 134,588,046 (GRCm39) |
H301R |
probably benign |
Het |
| Tdg |
A |
G |
10: 82,477,216 (GRCm39) |
K89R |
possibly damaging |
Het |
| Trak1 |
G |
A |
9: 121,289,491 (GRCm39) |
R601H |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,844,144 (GRCm39) |
L120P |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,606,250 (GRCm39) |
N1697K |
probably benign |
Het |
| Uts2r |
G |
A |
11: 121,051,495 (GRCm39) |
V120M |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,696,256 (GRCm39) |
L162P |
probably damaging |
Het |
| Zbtb17 |
G |
A |
4: 141,189,134 (GRCm39) |
R18Q |
probably damaging |
Het |
| Zfp551 |
A |
T |
7: 12,151,138 (GRCm39) |
C90* |
probably null |
Het |
| Zfp605 |
T |
A |
5: 110,276,300 (GRCm39) |
C473S |
probably damaging |
Het |
| Zfp764l1 |
T |
A |
7: 126,991,600 (GRCm39) |
S117C |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,312,356 (GRCm39) |
Y86N |
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 |
|
|
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'- ATGCCGCGTGATGACTATGG -3'
(R):5'- CCATGCTACAGAGTCATTTAGGC -3'
Sequencing Primer
(F):5'- CTATGGAATAAGACAGATCCAGTTG -3'
(R):5'- AAGTTCAAGGCCAGTCTGGTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation