Incidental Mutation 'R9683:Tdrd7'
| ID |
728677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd7
|
| Ensembl Gene |
ENSMUSG00000035517 |
| Gene Name |
tudor domain containing 7 |
| Synonyms |
5730495N10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.540)
|
| Stock # |
R9683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45965334-46034761 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46025946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 922
(L922Q)
|
| 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: L889Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: L889Q
| 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: L922Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: L922Q
| 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: 99.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
T |
3: 124,200,095 (GRCm39) |
G499D |
probably benign |
Het |
| Acr |
T |
A |
15: 89,457,440 (GRCm39) |
Y229* |
probably null |
Het |
| Adam6b |
G |
T |
12: 113,454,176 (GRCm39) |
C331F |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,984,719 (GRCm39) |
V2001A |
possibly damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
| Anln |
A |
T |
9: 22,283,536 (GRCm39) |
C432* |
probably null |
Het |
| Aox4 |
T |
C |
1: 58,278,462 (GRCm39) |
|
probably null |
Het |
| Astn1 |
A |
G |
1: 158,491,619 (GRCm39) |
I1007V |
possibly damaging |
Het |
| Bicral |
T |
C |
17: 47,122,944 (GRCm39) |
D649G |
possibly damaging |
Het |
| C1qbp |
G |
A |
11: 70,873,749 (GRCm39) |
R10C |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,268,656 (GRCm39) |
P246L |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,704,522 (GRCm39) |
V335E |
probably damaging |
Het |
| Cfap52 |
T |
A |
11: 67,822,639 (GRCm39) |
T411S |
probably benign |
Het |
| Cnot6 |
A |
T |
11: 49,580,164 (GRCm39) |
L43I |
possibly damaging |
Het |
| Col9a3 |
G |
A |
2: 180,248,322 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
G |
1: 181,426,509 (GRCm39) |
R210G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,332 (GRCm39) |
S742G |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,186,099 (GRCm39) |
V1750M |
probably benign |
Het |
| Glrx2 |
A |
G |
1: 143,622,292 (GRCm39) |
D96G |
probably damaging |
Het |
| Gm8369 |
T |
C |
19: 11,489,097 (GRCm39) |
L128P |
probably damaging |
Het |
| Gpr155 |
A |
G |
2: 73,192,780 (GRCm39) |
I585T |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,449,140 (GRCm39) |
S1907P |
probably damaging |
Het |
| Hscb |
T |
C |
5: 110,983,881 (GRCm39) |
T129A |
possibly damaging |
Het |
| Itgb5 |
T |
A |
16: 33,740,335 (GRCm39) |
Y482N |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,865,587 (GRCm39) |
*884R |
probably null |
Het |
| L3mbtl1 |
A |
T |
2: 162,812,228 (GRCm39) |
T758S |
possibly damaging |
Het |
| Mindy1 |
A |
T |
3: 95,202,176 (GRCm39) |
H351L |
probably benign |
Het |
| Mmel1 |
A |
T |
4: 154,977,285 (GRCm39) |
I552F |
probably damaging |
Het |
| Mos |
T |
C |
4: 3,871,186 (GRCm39) |
D210G |
probably benign |
Het |
| Npl |
A |
C |
1: 153,421,030 (GRCm39) |
I16S |
possibly damaging |
Het |
| Nutm2 |
C |
A |
13: 50,629,017 (GRCm39) |
P694T |
possibly damaging |
Het |
| Or1e1c |
G |
A |
11: 73,265,811 (GRCm39) |
V82I |
probably damaging |
Het |
| Or52ae7 |
A |
G |
7: 103,119,157 (GRCm39) |
|
probably benign |
Het |
| Plekhg4 |
T |
C |
8: 106,102,923 (GRCm39) |
F261L |
probably benign |
Het |
| Ppfia3 |
T |
A |
7: 45,005,999 (GRCm39) |
N331I |
probably benign |
Het |
| Ppp1r12a |
T |
A |
10: 108,096,747 (GRCm39) |
S712R |
possibly damaging |
Het |
| Psg20 |
T |
A |
7: 18,416,508 (GRCm39) |
K203* |
probably null |
Het |
| Recql |
C |
T |
6: 142,305,646 (GRCm39) |
R234Q |
|
Het |
| Rerg |
A |
G |
6: 137,033,252 (GRCm39) |
F160S |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,269,126 (GRCm39) |
K1571E |
probably damaging |
Het |
| Rsrc1 |
T |
A |
3: 67,257,328 (GRCm39) |
S247T |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,881 (GRCm39) |
I4309N |
possibly damaging |
Het |
| Setd7 |
A |
T |
3: 51,450,111 (GRCm39) |
I105N |
possibly damaging |
Het |
| Sgk1 |
AAGA |
AAGAGA |
10: 21,868,290 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
T |
A |
2: 130,921,236 (GRCm39) |
H645L |
probably damaging |
Het |
| Slain1 |
A |
T |
14: 103,925,621 (GRCm39) |
D323V |
probably damaging |
Het |
| Slc25a10 |
A |
G |
11: 120,386,312 (GRCm39) |
N139D |
probably damaging |
Het |
| Slc9a9 |
T |
G |
9: 94,552,235 (GRCm39) |
F41V |
probably damaging |
Het |
| Spag9 |
A |
C |
11: 93,988,568 (GRCm39) |
E879D |
probably damaging |
Het |
| Tiprl |
A |
G |
1: 165,050,147 (GRCm39) |
F156S |
probably damaging |
Het |
| Tmem185b |
G |
C |
1: 119,454,748 (GRCm39) |
V170L |
probably damaging |
Het |
| Top2a |
G |
A |
11: 98,887,683 (GRCm39) |
T1275I |
probably benign |
Het |
| Tpp1 |
A |
G |
7: 105,398,104 (GRCm39) |
L353P |
probably damaging |
Het |
| Twnk |
T |
A |
19: 44,998,622 (GRCm39) |
H513Q |
probably damaging |
Het |
| Ubr5 |
C |
T |
15: 37,978,271 (GRCm39) |
V2467I |
|
Het |
| Vmn2r16 |
T |
A |
5: 109,511,677 (GRCm39) |
I628N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,462,776 (GRCm39) |
E801G |
unknown |
Het |
| Zfp810 |
T |
C |
9: 22,189,799 (GRCm39) |
R370G |
possibly damaging |
Het |
| Zfp955a |
A |
G |
17: 33,461,587 (GRCm39) |
S182P |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,394,465 (GRCm39) |
T72A |
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 |
|
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 |
|
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'- AAGGATGTGTTTCTGAGCGC -3'
(R):5'- AAGCTCTGCCCAGGACATAC -3'
Sequencing Primer
(F):5'- TCTGAGCGCGGTGTCTAC -3'
(R):5'- AAGCTCTGCCCAGGACATACTTATTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation