Incidental Mutation 'IGL02812:Tdrd7'
| ID |
360640 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tdrd7
|
| Ensembl Gene |
ENSMUSG00000035517 |
| Gene Name |
tudor domain containing 7 |
| Synonyms |
5730495N10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.540)
|
| Stock # |
IGL02812
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
45965334-46034761 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45994406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 268
(D268G)
|
| 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: D235G
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: D235G
| 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: D268G
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: D268G
| 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 |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,841,881 (GRCm39) |
V1005L |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,643,516 (GRCm39) |
S11P |
possibly damaging |
Het |
| Acsl1 |
A |
T |
8: 46,945,873 (GRCm39) |
E2V |
possibly damaging |
Het |
| Aox3 |
G |
A |
1: 58,205,055 (GRCm39) |
V757I |
probably benign |
Het |
| Aqp4 |
T |
C |
18: 15,530,632 (GRCm39) |
|
probably null |
Het |
| Arhgef7 |
A |
G |
8: 11,831,245 (GRCm39) |
|
probably benign |
Het |
| Armc9 |
T |
A |
1: 86,172,293 (GRCm39) |
D2E |
probably damaging |
Het |
| Celsr2 |
G |
A |
3: 108,321,429 (GRCm39) |
P461L |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,570,080 (GRCm39) |
D1339G |
probably damaging |
Het |
| Clk1 |
T |
A |
1: 58,453,635 (GRCm39) |
N317I |
probably damaging |
Het |
| Comp |
G |
A |
8: 70,829,337 (GRCm39) |
G305S |
possibly damaging |
Het |
| Depdc5 |
G |
A |
5: 33,050,712 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
C |
10: 34,059,712 (GRCm39) |
E131G |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,864,343 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Epha2 |
A |
G |
4: 141,046,230 (GRCm39) |
|
probably benign |
Het |
| Fam243 |
A |
G |
16: 92,117,616 (GRCm39) |
I224T |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,087,592 (GRCm39) |
|
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,231,624 (GRCm39) |
N321D |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,738 (GRCm39) |
|
noncoding transcript |
Het |
| Gp2 |
A |
T |
7: 119,051,452 (GRCm39) |
N254K |
probably benign |
Het |
| Hgh1 |
T |
A |
15: 76,253,754 (GRCm39) |
|
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,284,030 (GRCm39) |
N543S |
probably damaging |
Het |
| Ints7 |
T |
C |
1: 191,351,853 (GRCm39) |
V854A |
probably damaging |
Het |
| Itgb1bp1 |
T |
G |
12: 21,320,879 (GRCm39) |
|
probably benign |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,947 (GRCm39) |
N120Y |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 19,900,782 (GRCm39) |
S319P |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,318 (GRCm39) |
L265S |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,378,869 (GRCm39) |
|
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,701,966 (GRCm39) |
|
probably null |
Het |
| Msh4 |
T |
C |
3: 153,607,037 (GRCm39) |
|
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,232,455 (GRCm39) |
L132P |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,368,005 (GRCm39) |
E255V |
probably benign |
Het |
| Myot |
T |
C |
18: 44,479,127 (GRCm39) |
V288A |
probably damaging |
Het |
| Nipa2 |
T |
C |
7: 55,592,766 (GRCm39) |
Y53C |
probably damaging |
Het |
| Npas1 |
T |
A |
7: 16,190,041 (GRCm39) |
I502F |
probably damaging |
Het |
| Or12j5 |
C |
T |
7: 140,083,533 (GRCm39) |
V280M |
probably damaging |
Het |
| Or2y1d |
T |
A |
11: 49,321,749 (GRCm39) |
W149R |
probably damaging |
Het |
| Osbp2 |
A |
G |
11: 3,664,637 (GRCm39) |
V565A |
probably benign |
Het |
| Otof |
A |
G |
5: 30,531,426 (GRCm39) |
S1666P |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,108,927 (GRCm39) |
S476A |
probably damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,789 (GRCm39) |
N465D |
probably damaging |
Het |
| Pla2g4c |
T |
C |
7: 13,082,290 (GRCm39) |
F512S |
probably damaging |
Het |
| Plcd4 |
T |
A |
1: 74,596,967 (GRCm39) |
L403Q |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,209,080 (GRCm39) |
T443A |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,259,384 (GRCm39) |
T589S |
probably benign |
Het |
| Spag8 |
G |
A |
4: 43,651,755 (GRCm39) |
R404W |
probably damaging |
Het |
| Tfap2d |
A |
G |
1: 19,213,151 (GRCm39) |
H325R |
possibly damaging |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,176 (GRCm39) |
V195I |
probably damaging |
Het |
| Vmn1r67 |
G |
A |
7: 10,180,945 (GRCm39) |
E70K |
probably benign |
Het |
| Wdr18 |
T |
A |
10: 79,796,898 (GRCm39) |
N91K |
possibly damaging |
Het |
| Zbtb7b |
T |
C |
3: 89,287,081 (GRCm39) |
T463A |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation