Incidental Mutation 'R5197:Tdrd7'
| ID |
400322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd7
|
| Ensembl Gene |
ENSMUSG00000035517 |
| Gene Name |
tudor domain containing 7 |
| Synonyms |
5730495N10Rik |
| MMRRC Submission |
042773-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.540)
|
| Stock # |
R5197 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45965334-46034761 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46034350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1065
(V1065A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102929]
[ENSMUST00000107773]
[ENSMUST00000107777]
[ENSMUST00000156200]
|
| AlphaFold |
Q8K1H1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102929
AA Change: V1032A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: V1032A
| 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: ENSMUST00000107773
|
| SMART Domains |
Protein: ENSMUSP00000103402
Gene: ENSMUSG00000028328
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomodulin
|
3 |
143 |
6.3e-64 |
PFAM |
|
PDB:1IO0|A
|
160 |
344 |
1e-115 |
PDB |
|
SCOP:d1a4ya_
|
181 |
312 |
3e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107777
AA Change: V1065A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: V1065A
| 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: ENSMUST00000155936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156200
|
| Meta Mutation Damage Score |
0.5122 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
99% (67/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
T |
C |
9: 54,529,866 (GRCm39) |
E247G |
possibly damaging |
Het |
| Adgra3 |
A |
G |
5: 50,118,096 (GRCm39) |
F1151L |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aldh4a1 |
A |
C |
4: 139,375,612 (GRCm39) |
|
probably benign |
Het |
| Anln |
A |
T |
9: 22,264,077 (GRCm39) |
|
probably null |
Het |
| Aste1 |
T |
C |
9: 105,282,253 (GRCm39) |
S74P |
probably damaging |
Het |
| Atp6v0e2 |
G |
A |
6: 48,517,051 (GRCm39) |
R77H |
probably benign |
Het |
| Brpf1 |
A |
G |
6: 113,296,902 (GRCm39) |
D962G |
possibly damaging |
Het |
| Btbd2 |
T |
C |
10: 80,482,253 (GRCm39) |
D249G |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,955,989 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
A |
G |
19: 47,885,811 (GRCm39) |
L268P |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,255,413 (GRCm39) |
V540A |
probably benign |
Het |
| Col22a1 |
C |
T |
15: 71,881,255 (GRCm39) |
G32D |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,432,241 (GRCm39) |
P804Q |
probably benign |
Het |
| Cyp2d41-ps |
A |
G |
15: 82,662,981 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp39a1 |
T |
G |
17: 44,057,429 (GRCm39) |
L423V |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,748,607 (GRCm39) |
V484G |
probably benign |
Het |
| Eps8 |
C |
A |
6: 137,467,288 (GRCm39) |
Q656H |
probably damaging |
Het |
| Eps8 |
T |
C |
6: 137,467,289 (GRCm39) |
Q656R |
possibly damaging |
Het |
| Fshb |
T |
C |
2: 106,887,854 (GRCm39) |
D55G |
possibly damaging |
Het |
| Garin1a |
G |
T |
6: 29,281,221 (GRCm39) |
|
probably benign |
Het |
| H3c4 |
T |
A |
13: 23,760,304 (GRCm39) |
L110Q |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,355,786 (GRCm39) |
Q2346K |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,550,833 (GRCm39) |
D328E |
probably benign |
Het |
| Kif21b |
A |
T |
1: 136,072,363 (GRCm39) |
K23M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,705,673 (GRCm39) |
E470V |
probably benign |
Het |
| Lrrc4 |
G |
T |
6: 28,830,142 (GRCm39) |
T68K |
probably damaging |
Het |
| Lrrc63 |
T |
A |
14: 75,322,322 (GRCm39) |
H594L |
possibly damaging |
Het |
| Mfsd14a |
A |
T |
3: 116,442,150 (GRCm39) |
|
probably benign |
Het |
| Mob2 |
T |
C |
7: 141,563,274 (GRCm39) |
|
probably null |
Het |
| Nckap5 |
T |
A |
1: 126,150,410 (GRCm39) |
H105L |
possibly damaging |
Het |
| Ngef |
C |
A |
1: 87,437,090 (GRCm39) |
G133* |
probably null |
Het |
| Or14j2 |
T |
G |
17: 37,886,111 (GRCm39) |
I68L |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
T |
A |
14: 14,328,462 (GRCm38) |
M117K |
probably damaging |
Het |
| Or52s1 |
G |
A |
7: 102,861,207 (GRCm39) |
V47I |
probably benign |
Het |
| Or5b120 |
G |
T |
19: 13,479,748 (GRCm39) |
V14F |
possibly damaging |
Het |
| Or5g23 |
T |
C |
2: 85,438,791 (GRCm39) |
I154M |
probably benign |
Het |
| Pard3 |
A |
G |
8: 127,800,040 (GRCm39) |
|
probably null |
Het |
| Pgm2 |
C |
T |
5: 64,263,175 (GRCm39) |
A274V |
possibly damaging |
Het |
| Ppp1r9a |
T |
A |
6: 5,156,177 (GRCm39) |
S1144R |
probably damaging |
Het |
| Pramel23 |
A |
C |
4: 143,424,632 (GRCm39) |
C270W |
possibly damaging |
Het |
| Prkcq |
C |
T |
2: 11,304,227 (GRCm39) |
P590L |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,474,374 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
A |
1: 127,816,931 (GRCm39) |
D63E |
probably benign |
Het |
| Rag2 |
C |
A |
2: 101,461,085 (GRCm39) |
T465K |
probably damaging |
Het |
| Rnase6 |
A |
G |
14: 51,367,670 (GRCm39) |
M21V |
unknown |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,653,316 (GRCm39) |
|
probably null |
Het |
| Sash1 |
T |
G |
10: 8,615,989 (GRCm39) |
R624S |
probably damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,586,460 (GRCm39) |
I355V |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,036,358 (GRCm39) |
S1097P |
probably benign |
Het |
| Sugct |
C |
T |
13: 17,497,861 (GRCm39) |
A271T |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,338,389 (GRCm39) |
Y307F |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,642,126 (GRCm39) |
N216S |
probably benign |
Het |
| Ttk |
T |
C |
9: 83,721,394 (GRCm39) |
V93A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,195,408 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,871,937 (GRCm39) |
K364E |
probably benign |
Het |
| Xrcc2 |
G |
T |
5: 25,897,656 (GRCm39) |
H98N |
probably benign |
Het |
| Zdhhc11 |
A |
G |
13: 74,113,688 (GRCm39) |
I77V |
probably benign |
Het |
| Zfp54 |
C |
T |
17: 21,654,442 (GRCm39) |
S312L |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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'- TCACGATAGACAAGCTGTGAG -3'
(R):5'- TAGCGGTCAACATCTCAAGCAG -3'
Sequencing Primer
(F):5'- GGCTGCTATTCTCTGCCGTAG -3'
(R):5'- GCAGTGATTAATTAACTTTCGAAAGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation