Incidental Mutation 'R7130:Tdrd7'
| ID |
552568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd7
|
| Ensembl Gene |
ENSMUSG00000035517 |
| Gene Name |
tudor domain containing 7 |
| Synonyms |
5730495N10Rik |
| MMRRC Submission |
045215-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.540)
|
| Stock # |
R7130 (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 C
at 46029693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1009
(S1009P)
|
| 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: S976P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: S976P
| 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: S1009P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: S1009P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (63/64) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,418,021 (GRCm39) |
T735I |
possibly damaging |
Het |
| Abtb3 |
A |
C |
10: 85,223,419 (GRCm39) |
D76A |
unknown |
Het |
| Adcy10 |
T |
A |
1: 165,331,616 (GRCm39) |
V83E |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,495,110 (GRCm39) |
Y701H |
probably benign |
Het |
| Apbb1 |
G |
A |
7: 105,214,538 (GRCm39) |
H518Y |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,761,047 (GRCm39) |
V966E |
probably damaging |
Het |
| Bbx |
T |
A |
16: 50,030,805 (GRCm39) |
|
probably null |
Het |
| Bpifb9b |
T |
A |
2: 154,153,592 (GRCm39) |
N219K |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,355,761 (GRCm39) |
T490A |
unknown |
Het |
| Cyb5r1 |
T |
G |
1: 134,335,759 (GRCm39) |
|
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,573,523 (GRCm39) |
Q2945* |
probably null |
Het |
| Eif5b |
A |
G |
1: 38,080,857 (GRCm39) |
T733A |
probably damaging |
Het |
| Esyt3 |
T |
A |
9: 99,200,223 (GRCm39) |
D657V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,034,936 (GRCm39) |
F2863I |
probably damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,100,350 (GRCm39) |
I435L |
probably benign |
Het |
| Fus |
G |
A |
7: 127,573,585 (GRCm39) |
G253S |
unknown |
Het |
| Gdi2 |
T |
C |
13: 3,598,891 (GRCm39) |
V25A |
probably benign |
Het |
| Gm28729 |
T |
G |
9: 96,401,457 (GRCm39) |
R110S |
probably benign |
Het |
| Gucd1 |
A |
G |
10: 75,347,951 (GRCm39) |
L28P |
possibly damaging |
Het |
| Hmgxb3 |
C |
T |
18: 61,265,450 (GRCm39) |
S1176N |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,105,575 (GRCm39) |
T606A |
probably damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,810 (GRCm39) |
D137G |
probably benign |
Het |
| Klkb1 |
T |
A |
8: 45,728,575 (GRCm39) |
T395S |
probably benign |
Het |
| Morc2b |
T |
A |
17: 33,355,262 (GRCm39) |
S837C |
possibly damaging |
Het |
| Mrpl9 |
A |
G |
3: 94,354,597 (GRCm39) |
R204G |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,156,018 (GRCm39) |
E64G |
probably benign |
Het |
| Nlrx1 |
T |
C |
9: 44,173,638 (GRCm39) |
E521G |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,812,081 (GRCm39) |
S54P |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,250,837 (GRCm39) |
M37V |
probably benign |
Het |
| Or2ag17 |
A |
G |
7: 106,389,389 (GRCm39) |
L273P |
probably benign |
Het |
| Or2w1 |
T |
G |
13: 21,317,416 (GRCm39) |
V157G |
probably benign |
Het |
| Or4b1b |
T |
C |
2: 90,112,266 (GRCm39) |
I218V |
probably benign |
Het |
| Or9s27 |
C |
T |
1: 92,516,634 (GRCm39) |
A194V |
probably benign |
Het |
| Osbpl9 |
G |
A |
4: 108,940,296 (GRCm39) |
R213C |
probably benign |
Het |
| Pard3 |
C |
A |
8: 128,142,164 (GRCm39) |
R907S |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,559 (GRCm39) |
S630G |
probably benign |
Het |
| Pcdhb17 |
G |
A |
18: 37,618,498 (GRCm39) |
C96Y |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,729,356 (GRCm39) |
T2738I |
unknown |
Het |
| Pcnx2 |
G |
A |
8: 126,480,323 (GRCm39) |
R1995* |
probably null |
Het |
| Ppm1a |
T |
A |
12: 72,831,007 (GRCm39) |
N177K |
probably benign |
Het |
| Rfx6 |
A |
T |
10: 51,554,476 (GRCm39) |
K106* |
probably null |
Het |
| Rhoh |
T |
C |
5: 66,050,207 (GRCm39) |
V159A |
probably damaging |
Het |
| Rreb1 |
T |
C |
13: 38,083,724 (GRCm39) |
V129A |
probably damaging |
Het |
| Sdccag8 |
C |
A |
1: 176,702,167 (GRCm39) |
A424D |
probably damaging |
Het |
| Sdf2 |
T |
C |
11: 78,136,823 (GRCm39) |
M1T |
probably null |
Het |
| Sftpb |
T |
A |
6: 72,282,808 (GRCm39) |
F94I |
possibly damaging |
Het |
| Slc38a2 |
G |
T |
15: 96,589,263 (GRCm39) |
H410Q |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,960,384 (GRCm39) |
V68E |
probably damaging |
Het |
| Spopfm3 |
T |
C |
3: 94,105,834 (GRCm39) |
W51R |
probably damaging |
Het |
| Srd5a3 |
T |
C |
5: 76,297,684 (GRCm39) |
V162A |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Tango6 |
A |
G |
8: 107,533,733 (GRCm39) |
D953G |
probably damaging |
Het |
| Thap3 |
T |
C |
4: 152,073,373 (GRCm39) |
Y14C |
possibly damaging |
Het |
| Tmem143 |
T |
A |
7: 45,558,901 (GRCm39) |
M281K |
possibly damaging |
Het |
| Trio |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
15: 27,742,399 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
A |
G |
1: 37,822,965 (GRCm39) |
I516T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,721,013 (GRCm39) |
I6804V |
unknown |
Het |
| Ubtfl1 |
C |
A |
9: 18,321,143 (GRCm39) |
P224T |
probably damaging |
Het |
| Umad1 |
G |
T |
6: 8,427,185 (GRCm39) |
C120F |
probably null |
Het |
| Unc93a2 |
T |
C |
17: 7,637,824 (GRCm39) |
T304A |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,881,101 (GRCm39) |
V275D |
|
Het |
| Vmn2r79 |
T |
C |
7: 86,651,474 (GRCm39) |
V291A |
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 |
|
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 |
|
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'- CAGTTGCTTCCAAACTTCCATGG -3'
(R):5'- ACTAGTGACCCTGCACTCAC -3'
Sequencing Primer
(F):5'- GCGTGAGTGTGTGTGTATGC -3'
(R):5'- TAGTGACCCTGCACTCACTAAAAAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation