Incidental Mutation 'R5776:Tdrd7'
| ID |
446688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd7
|
| Ensembl Gene |
ENSMUSG00000035517 |
| Gene Name |
tudor domain containing 7 |
| Synonyms |
5730495N10Rik |
| MMRRC Submission |
043375-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.540)
|
| Stock # |
R5776 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45965334-46034761 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46005689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 498
(D498E)
|
| 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: D465E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: D465E
| 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: D498E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: D498E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
98% (64/65) |
| 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 |
|---|
| Aass |
A |
T |
6: 23,107,649 (GRCm39) |
M378K |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,514,132 (GRCm39) |
V857A |
probably benign |
Het |
| Abca9 |
C |
T |
11: 109,998,286 (GRCm39) |
|
probably null |
Het |
| Adam22 |
T |
C |
5: 8,177,361 (GRCm39) |
K583E |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,186 (GRCm39) |
F80L |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,056,149 (GRCm39) |
I1511F |
possibly damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,095,665 (GRCm39) |
E1811G |
possibly damaging |
Het |
| Cfh |
C |
A |
1: 140,071,761 (GRCm39) |
R291I |
possibly damaging |
Het |
| Col1a1 |
C |
T |
11: 94,840,550 (GRCm39) |
S1114F |
unknown |
Het |
| Ctsj |
T |
C |
13: 61,150,956 (GRCm39) |
D168G |
probably damaging |
Het |
| Erf |
T |
C |
7: 24,945,534 (GRCm39) |
D79G |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,085,083 (GRCm39) |
N629S |
possibly damaging |
Het |
| Fbxo9 |
T |
C |
9: 78,002,469 (GRCm39) |
E204G |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,778 (GRCm39) |
V9L |
possibly damaging |
Het |
| Gfer |
G |
T |
17: 24,915,027 (GRCm39) |
S5R |
probably benign |
Het |
| Gm15931 |
A |
T |
7: 4,284,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6309 |
T |
A |
5: 146,105,691 (GRCm39) |
I158F |
possibly damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,344,828 (GRCm39) |
N234K |
possibly damaging |
Het |
| Hcn3 |
C |
T |
3: 89,055,412 (GRCm39) |
A612T |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,810,897 (GRCm39) |
E1679D |
possibly damaging |
Het |
| Hipk4 |
T |
C |
7: 27,228,405 (GRCm39) |
L285P |
probably damaging |
Het |
| Igsf3 |
G |
A |
3: 101,332,796 (GRCm39) |
V25I |
probably benign |
Het |
| Jade1 |
A |
G |
3: 41,568,227 (GRCm39) |
H765R |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,977,963 (GRCm39) |
D25G |
unknown |
Het |
| Klhl3 |
A |
G |
13: 58,152,998 (GRCm39) |
S586P |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,569,072 (GRCm39) |
D582G |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,431,765 (GRCm39) |
C835Y |
probably damaging |
Het |
| Naa15 |
A |
C |
3: 51,367,447 (GRCm39) |
D490A |
probably damaging |
Het |
| Nab2 |
T |
A |
10: 127,500,198 (GRCm39) |
Y298F |
probably damaging |
Het |
| Nipsnap1 |
T |
A |
11: 4,838,919 (GRCm39) |
M115K |
probably benign |
Het |
| Nlrp5-ps |
T |
C |
7: 14,326,649 (GRCm39) |
|
noncoding transcript |
Het |
| Nol4l |
T |
G |
2: 153,259,741 (GRCm39) |
Q211P |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,760,363 (GRCm39) |
E265G |
probably damaging |
Het |
| Or52z15 |
T |
A |
7: 103,332,246 (GRCm39) |
M97K |
probably damaging |
Het |
| Or6k14 |
A |
T |
1: 173,927,339 (GRCm39) |
H105L |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,279,409 (GRCm39) |
K2970E |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,983 (GRCm39) |
T683A |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,362,454 (GRCm39) |
D282G |
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,576,901 (GRCm39) |
S10P |
possibly damaging |
Het |
| Raph1 |
G |
A |
1: 60,529,315 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,268,325 (GRCm39) |
V935A |
possibly damaging |
Het |
| Reg4 |
T |
A |
3: 98,140,344 (GRCm39) |
D108E |
possibly damaging |
Het |
| Saraf |
T |
A |
8: 34,632,604 (GRCm39) |
Y228N |
probably damaging |
Het |
| Sctr |
T |
C |
1: 119,984,137 (GRCm39) |
S357P |
probably damaging |
Het |
| Sec22b |
A |
T |
3: 97,821,884 (GRCm39) |
N139Y |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,398,823 (GRCm39) |
I1037F |
probably damaging |
Het |
| Skint5 |
A |
C |
4: 113,620,700 (GRCm39) |
S671R |
unknown |
Het |
| Slc38a3 |
C |
A |
9: 107,535,948 (GRCm39) |
E62* |
probably null |
Het |
| Slfn14 |
C |
T |
11: 83,174,425 (GRCm39) |
E189K |
probably damaging |
Het |
| Sox21 |
A |
G |
14: 118,472,656 (GRCm39) |
L131P |
probably damaging |
Het |
| Stip1 |
A |
G |
19: 6,999,393 (GRCm39) |
|
probably null |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Susd1 |
T |
C |
4: 59,315,363 (GRCm39) |
|
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,165,532 (GRCm39) |
E1053K |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,692,211 (GRCm39) |
D103G |
probably damaging |
Het |
| Txndc15 |
A |
G |
13: 55,865,920 (GRCm39) |
E128G |
probably benign |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,673 (GRCm39) |
W306R |
probably damaging |
Het |
| Yjefn3 |
A |
T |
8: 70,342,121 (GRCm39) |
L33Q |
probably damaging |
Het |
| Zfp641 |
T |
C |
15: 98,186,891 (GRCm39) |
D244G |
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 |
|
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'- TCTATGCGAAACTCCCATTGC -3'
(R):5'- ATTTCTCCTAAGGACGCTGG -3'
Sequencing Primer
(F):5'- TTGCCCACTGACAAGATCTTAAAGG -3'
(R):5'- GGCCTTTTACAAACGTGAGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation