Incidental Mutation 'R4457:Tdrd7'
| ID |
329939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd7
|
| Ensembl Gene |
ENSMUSG00000035517 |
| Gene Name |
tudor domain containing 7 |
| Synonyms |
5730495N10Rik |
| MMRRC Submission |
041717-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.540)
|
| Stock # |
R4457 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45965334-46034761 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46007526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 526
(N526S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102929]
[ENSMUST00000107777]
|
| AlphaFold |
Q8K1H1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102929
AA Change: N493S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: N493S
| 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
AA Change: N526S
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: N526S
| 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
|
| Meta Mutation Damage Score |
0.0728 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (62/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
A |
G |
16: 90,351,260 (GRCm39) |
|
noncoding transcript |
Het |
| 1700025G04Rik |
T |
C |
1: 151,796,805 (GRCm39) |
R87G |
probably damaging |
Het |
| 9030619P08Rik |
T |
A |
15: 75,303,249 (GRCm39) |
|
noncoding transcript |
Het |
| Akap13 |
A |
G |
7: 75,389,213 (GRCm39) |
D2377G |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,027 (GRCm39) |
S593P |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,768,215 (GRCm39) |
K181R |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,443,427 (GRCm39) |
I383T |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,884 (GRCm39) |
D398G |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,537,464 (GRCm39) |
Y2238H |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,779,781 (GRCm39) |
N3161S |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 31,032,125 (GRCm39) |
H4148Q |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,766,321 (GRCm39) |
S397G |
possibly damaging |
Het |
| Eya4 |
A |
T |
10: 22,992,566 (GRCm39) |
S462R |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Frrs1 |
G |
A |
3: 116,690,377 (GRCm39) |
V7I |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,073 (GRCm39) |
M437K |
probably benign |
Het |
| Gm2840 |
T |
G |
5: 96,322,187 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4956 |
A |
G |
1: 21,368,319 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
A |
G |
9: 4,427,074 (GRCm39) |
W789R |
probably damaging |
Het |
| Hoxb5 |
A |
G |
11: 96,194,546 (GRCm39) |
D36G |
probably damaging |
Het |
| Hps5 |
A |
T |
7: 46,433,037 (GRCm39) |
C228S |
probably benign |
Het |
| Hspa4 |
A |
T |
11: 53,171,395 (GRCm39) |
C270S |
probably damaging |
Het |
| Htra4 |
C |
A |
8: 25,528,674 (GRCm39) |
A73S |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,723,347 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,479,673 (GRCm39) |
H131Y |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,422,129 (GRCm39) |
|
probably null |
Het |
| Lamp3 |
T |
A |
16: 19,492,279 (GRCm39) |
M322L |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,373,011 (GRCm39) |
V37A |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,111,441 (GRCm39) |
G1627R |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,743,643 (GRCm39) |
I235V |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,128 (GRCm39) |
|
probably null |
Het |
| Ndufa12 |
A |
T |
10: 94,056,680 (GRCm39) |
K136M |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,392,944 (GRCm39) |
L146P |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,497,427 (GRCm39) |
S268T |
probably benign |
Het |
| Or51g2 |
C |
T |
7: 102,622,734 (GRCm39) |
S155N |
probably damaging |
Het |
| Or5d44 |
A |
G |
2: 88,141,173 (GRCm39) |
|
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,073,599 (GRCm39) |
D410G |
probably damaging |
Het |
| Pcyox1l |
T |
A |
18: 61,830,939 (GRCm39) |
N311I |
probably benign |
Het |
| Pif1 |
A |
G |
9: 65,495,058 (GRCm39) |
|
probably benign |
Het |
| Pkp1 |
CTCTTCTT |
CTCTT |
1: 135,803,362 (GRCm39) |
|
probably null |
Het |
| Pogz |
G |
A |
3: 94,763,374 (GRCm39) |
V49I |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,705 (GRCm39) |
Y189C |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Sgms2 |
A |
C |
3: 131,118,665 (GRCm39) |
Y273D |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,387,915 (GRCm39) |
V203I |
probably benign |
Het |
| Slc4a2 |
T |
A |
5: 24,639,328 (GRCm39) |
|
probably benign |
Het |
| Tbc1d13 |
A |
G |
2: 30,025,450 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
C |
T |
3: 133,191,324 (GRCm39) |
D1037N |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,011,187 (GRCm38) |
W188R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,394,078 (GRCm39) |
I551L |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,196,100 (GRCm39) |
I308M |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,409,778 (GRCm39) |
I3488V |
unknown |
Het |
| Zgrf1 |
A |
T |
3: 127,389,578 (GRCm39) |
I375F |
probably damaging |
Het |
| Zic4 |
A |
G |
9: 91,261,315 (GRCm39) |
K183R |
probably damaging |
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 |
|
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'- ATGTTCCCTGAGCACAGTTCC -3'
(R):5'- AGGCACTACTTGGAATTTCTGG -3'
Sequencing Primer
(F):5'- GAGCACAGTTCCTTCCCCTG -3'
(R):5'- GCACTACTTGGAATTTCTGGTGAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation