Incidental Mutation 'R6340:Tdrd7'
| ID |
513872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd7
|
| Ensembl Gene |
ENSMUSG00000035517 |
| Gene Name |
tudor domain containing 7 |
| Synonyms |
5730495N10Rik |
| MMRRC Submission |
044494-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.478)
|
| Stock # |
R6340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45965334-46034761 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45994517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 305
(I305N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102929]
[ENSMUST00000107777]
|
| AlphaFold |
Q8K1H1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102929
AA Change: I272N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: I272N
| 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: I305N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: I305N
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (41/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
C |
T |
1: 34,771,304 (GRCm39) |
L1204F |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,822,115 (GRCm39) |
D495G |
probably benign |
Het |
| B020011L13Rik |
G |
A |
1: 117,729,614 (GRCm39) |
V374I |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,449 (GRCm39) |
V214D |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,796,773 (GRCm39) |
V573A |
probably damaging |
Het |
| Elmo3 |
T |
A |
8: 106,033,379 (GRCm39) |
I115N |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,092,874 (GRCm39) |
Y564N |
probably damaging |
Het |
| Fam180a |
A |
C |
6: 35,292,322 (GRCm39) |
L28R |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Fnip2 |
A |
G |
3: 79,415,152 (GRCm39) |
F243L |
probably damaging |
Het |
| Gabra5 |
A |
T |
7: 57,063,496 (GRCm39) |
N309K |
probably damaging |
Het |
| Gm17654 |
A |
G |
14: 43,815,534 (GRCm39) |
L91P |
unknown |
Het |
| Gm19684 |
G |
A |
17: 36,438,402 (GRCm39) |
|
probably null |
Het |
| Gm9376 |
A |
T |
14: 118,504,669 (GRCm39) |
M34L |
unknown |
Het |
| Hmgcr |
A |
G |
13: 96,802,366 (GRCm39) |
F106S |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,081,574 (GRCm39) |
|
probably null |
Het |
| Igf2bp3 |
A |
G |
6: 49,191,393 (GRCm39) |
Y5H |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,336 (GRCm39) |
T77A |
probably benign |
Het |
| Il20 |
A |
G |
1: 130,836,118 (GRCm39) |
Y142H |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,342,042 (GRCm39) |
D2160E |
probably benign |
Het |
| Melk |
A |
G |
4: 44,340,633 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mep1a |
C |
T |
17: 43,789,949 (GRCm39) |
V454M |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,790,124 (GRCm39) |
N395K |
probably benign |
Het |
| Mnt |
A |
G |
11: 74,727,242 (GRCm39) |
K43E |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,335,616 (GRCm39) |
I853T |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,370,032 (GRCm39) |
T37A |
probably benign |
Het |
| Or8d1b |
T |
G |
9: 38,887,062 (GRCm39) |
L30R |
probably damaging |
Het |
| Pdia4 |
A |
G |
6: 47,777,952 (GRCm39) |
S347P |
probably benign |
Het |
| Pkd1l1 |
T |
G |
11: 8,794,649 (GRCm39) |
Q1837H |
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,623,877 (GRCm39) |
N99S |
possibly damaging |
Het |
| Pygo1 |
T |
A |
9: 72,852,711 (GRCm39) |
N299K |
probably damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,613,725 (GRCm39) |
V52E |
probably damaging |
Het |
| Trav14-1 |
T |
C |
14: 53,791,955 (GRCm39) |
S102P |
probably damaging |
Het |
| Tsga10 |
C |
A |
1: 37,874,266 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,347,711 (GRCm39) |
H837Q |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,231,727 (GRCm39) |
R575S |
probably benign |
Het |
| Yae1d1 |
C |
A |
13: 18,167,861 (GRCm39) |
A11S |
probably benign |
Het |
| Zfp277 |
A |
G |
12: 40,368,548 (GRCm39) |
I459T |
possibly 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 |
|
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 |
|
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'- CCACAGCATAGCAGAGTCAGAG -3'
(R):5'- GCACTCCAAGCTCGTCATTTG -3'
Sequencing Primer
(F):5'- GACTGTTGAGAAACCAAATATCACG -3'
(R):5'- TTGTTTGTAGGAGTAAGAAGCCAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation