Incidental Mutation 'R5891:Tdrd9'
| ID |
457209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd9
|
| Ensembl Gene |
ENSMUSG00000054003 |
| Gene Name |
tudor domain containing 9 |
| Synonyms |
|
| MMRRC Submission |
044092-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R5891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111971559-112068854 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112042719 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1020
(S1020T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
|
| AlphaFold |
Q14BI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079009
AA Change: S1020T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: S1020T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
DEXDc
|
132 |
327 |
5.64e-21 |
SMART |
|
HELICc
|
404 |
502 |
3.22e-16 |
SMART |
|
low complexity region
|
547 |
561 |
N/A |
INTRINSIC |
|
HA2
|
565 |
666 |
1.9e-20 |
SMART |
|
TUDOR
|
944 |
1003 |
1.52e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191808
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193586
|
| Meta Mutation Damage Score |
0.0850 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
96% (85/89) |
| MGI Phenotype |
PHENOTYPE: Male homozygous mice are sterile, displaying small testis, arrest of male meiosis and abnormal spermatocyte morphology. Females are fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
A |
G |
15: 8,188,589 (GRCm38) |
I828V |
probably benign |
Het |
| A430105I19Rik |
T |
A |
2: 118,761,383 (GRCm38) |
D92V |
probably damaging |
Het |
| Abi3bp |
A |
T |
16: 56,606,133 (GRCm38) |
T504S |
probably damaging |
Het |
| Adamtsl4 |
C |
A |
3: 95,682,313 (GRCm38) |
R387L |
possibly damaging |
Het |
| Adgb |
G |
A |
10: 10,377,847 (GRCm38) |
Q1224* |
probably null |
Het |
| Ankrd40 |
T |
A |
11: 94,334,863 (GRCm38) |
F240Y |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,347,977 (GRCm38) |
Y164N |
probably benign |
Het |
| Atf7ip |
A |
T |
6: 136,559,977 (GRCm38) |
E69D |
possibly damaging |
Het |
| Atm |
T |
C |
9: 53,497,159 (GRCm38) |
T1129A |
probably benign |
Het |
| AU021092 |
T |
C |
16: 5,212,131 (GRCm38) |
D340G |
probably benign |
Het |
| Baz2a |
T |
A |
10: 128,121,322 (GRCm38) |
I978N |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,233,047 (GRCm38) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,208,888 (GRCm38) |
L830P |
probably damaging |
Het |
| Bicral |
T |
C |
17: 46,801,229 (GRCm38) |
N1015S |
probably benign |
Het |
| Ceacam3 |
C |
A |
7: 17,151,793 (GRCm38) |
T107N |
probably damaging |
Het |
| Cep83 |
T |
C |
10: 94,725,675 (GRCm38) |
V109A |
probably benign |
Het |
| Ces1e |
A |
G |
8: 93,203,266 (GRCm38) |
V463A |
possibly damaging |
Het |
| Ciao1 |
A |
G |
2: 127,247,134 (GRCm38) |
V55A |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,289,725 (GRCm38) |
E900G |
probably damaging |
Het |
| Commd3 |
A |
G |
2: 18,673,815 (GRCm38) |
|
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,850,811 (GRCm38) |
I157T |
probably damaging |
Het |
| Ctso |
T |
A |
3: 81,954,254 (GRCm38) |
F311L |
probably benign |
Het |
| Cxcl10 |
A |
G |
5: 92,348,224 (GRCm38) |
|
probably benign |
Het |
| Daam1 |
C |
A |
12: 71,944,149 (GRCm38) |
T179N |
unknown |
Het |
| Ddx24 |
T |
C |
12: 103,424,058 (GRCm38) |
K225E |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,775,392 (GRCm38) |
T278A |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,761,711 (GRCm38) |
N345K |
possibly damaging |
Het |
| Dnpep |
G |
T |
1: 75,311,812 (GRCm38) |
Q395K |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,614,220 (GRCm38) |
|
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,542,144 (GRCm38) |
D177G |
probably damaging |
Het |
| Fam135b |
C |
T |
15: 71,525,803 (GRCm38) |
R136H |
probably damaging |
Het |
| Fam214a |
C |
G |
9: 75,004,386 (GRCm38) |
C46W |
probably damaging |
Het |
| Filip1 |
T |
G |
9: 79,819,860 (GRCm38) |
L492F |
possibly damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,796,228 (GRCm38) |
I359F |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,707,443 (GRCm38) |
W366R |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,870,823 (GRCm38) |
T1808A |
possibly damaging |
Het |
| Ighv5-4 |
C |
A |
12: 113,597,629 (GRCm38) |
R57L |
probably damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,360,690 (GRCm38) |
I69N |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,529,425 (GRCm38) |
|
probably benign |
Het |
| Kif13b |
T |
G |
14: 64,788,405 (GRCm38) |
|
probably null |
Het |
| Klkb1 |
T |
A |
8: 45,270,666 (GRCm38) |
T571S |
probably benign |
Het |
| Mapkbp1 |
G |
T |
2: 120,023,932 (GRCm38) |
E1337* |
probably null |
Het |
| Met |
A |
G |
6: 17,491,539 (GRCm38) |
D100G |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,744,348 (GRCm38) |
D183E |
probably benign |
Het |
| Mrgprb13 |
T |
C |
7: 48,312,259 (GRCm38) |
|
noncoding transcript |
Het |
| Mrgprx2 |
T |
C |
7: 48,482,246 (GRCm38) |
T275A |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,241,615 (GRCm38) |
Q671K |
possibly damaging |
Het |
| Nckipsd |
T |
A |
9: 108,808,609 (GRCm38) |
S42R |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,219,259 (GRCm38) |
|
probably benign |
Het |
| Olfr1297 |
A |
T |
2: 111,621,433 (GRCm38) |
L214M |
probably damaging |
Het |
| Olfr361 |
T |
A |
2: 37,084,978 (GRCm38) |
M257L |
probably benign |
Het |
| Olfr467 |
C |
T |
7: 107,815,180 (GRCm38) |
P199S |
probably damaging |
Het |
| Olfr527 |
C |
T |
7: 140,336,600 (GRCm38) |
T246I |
probably benign |
Het |
| Otoa |
T |
A |
7: 121,132,360 (GRCm38) |
|
probably null |
Het |
| Pfkm |
T |
A |
15: 98,122,690 (GRCm38) |
C233* |
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,202,737 (GRCm38) |
Y212C |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,576,895 (GRCm38) |
D1781V |
possibly damaging |
Het |
| Pttg1ip |
A |
G |
10: 77,582,440 (GRCm38) |
|
probably benign |
Het |
| Rab6a |
T |
A |
7: 100,639,247 (GRCm38) |
|
probably null |
Het |
| Rbm11 |
C |
T |
16: 75,598,837 (GRCm38) |
A132V |
possibly damaging |
Het |
| Sept4 |
G |
T |
11: 87,588,924 (GRCm38) |
|
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,605,845 (GRCm38) |
E210G |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,647,884 (GRCm38) |
G27S |
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 12,990,402 (GRCm38) |
F32L |
probably benign |
Het |
| Smad2 |
A |
G |
18: 76,299,975 (GRCm38) |
E326G |
probably damaging |
Het |
| Sp9 |
T |
A |
2: 73,274,251 (GRCm38) |
L383Q |
probably damaging |
Het |
| Stx11 |
T |
C |
10: 12,941,815 (GRCm38) |
N55S |
probably damaging |
Het |
| Tbc1d15 |
T |
A |
10: 115,220,308 (GRCm38) |
Q253L |
probably benign |
Het |
| Tcf7l1 |
T |
A |
6: 72,637,051 (GRCm38) |
|
probably benign |
Het |
| Tead3 |
A |
T |
17: 28,341,365 (GRCm38) |
D88E |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,815,171 (GRCm38) |
S11P |
probably damaging |
Homo |
| Trpc3 |
G |
T |
3: 36,671,022 (GRCm38) |
D268E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,745,741 (GRCm38) |
V23190A |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,408,626 (GRCm38) |
Y908* |
probably null |
Het |
| Urb2 |
G |
T |
8: 124,030,856 (GRCm38) |
V1101L |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,341,535 (GRCm38) |
D1375E |
probably benign |
Het |
| Zcchc7 |
T |
C |
4: 44,895,838 (GRCm38) |
L262P |
probably damaging |
Het |
| Zdhhc7 |
T |
A |
8: 120,084,900 (GRCm38) |
H188L |
probably benign |
Het |
| Zfp518a |
T |
A |
19: 40,912,433 (GRCm38) |
C269S |
probably damaging |
Het |
| Zfp933 |
T |
C |
4: 147,826,774 (GRCm38) |
K90E |
probably benign |
Het |
|
| Other mutations in Tdrd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Tdrd9
|
APN |
12 |
112,040,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01373:Tdrd9
|
APN |
12 |
112,040,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01542:Tdrd9
|
APN |
12 |
112,046,989 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02967:Tdrd9
|
APN |
12 |
111,992,488 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL03063:Tdrd9
|
APN |
12 |
112,044,299 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03107:Tdrd9
|
APN |
12 |
112,042,840 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0433:Tdrd9
|
UTSW |
12 |
112,025,581 (GRCm38) |
nonsense |
probably null |
|
|
R0453:Tdrd9
|
UTSW |
12 |
112,068,239 (GRCm38) |
missense |
probably benign |
|
|
R0655:Tdrd9
|
UTSW |
12 |
112,040,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0666:Tdrd9
|
UTSW |
12 |
112,007,580 (GRCm38) |
intron |
probably benign |
|
|
R1073:Tdrd9
|
UTSW |
12 |
112,023,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1280:Tdrd9
|
UTSW |
12 |
112,039,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1386:Tdrd9
|
UTSW |
12 |
112,044,804 (GRCm38) |
missense |
probably benign |
0.21 |
|
R1521:Tdrd9
|
UTSW |
12 |
112,036,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1601:Tdrd9
|
UTSW |
12 |
112,023,253 (GRCm38) |
nonsense |
probably null |
|
|
R1651:Tdrd9
|
UTSW |
12 |
112,024,706 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1715:Tdrd9
|
UTSW |
12 |
112,036,439 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R1854:Tdrd9
|
UTSW |
12 |
112,044,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1905:Tdrd9
|
UTSW |
12 |
112,063,627 (GRCm38) |
splice site |
probably benign |
|
|
R2386:Tdrd9
|
UTSW |
12 |
112,015,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2863:Tdrd9
|
UTSW |
12 |
112,031,261 (GRCm38) |
missense |
probably benign |
|
|
R2915:Tdrd9
|
UTSW |
12 |
112,040,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2958:Tdrd9
|
UTSW |
12 |
112,041,672 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4033:Tdrd9
|
UTSW |
12 |
111,992,539 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R4087:Tdrd9
|
UTSW |
12 |
112,013,486 (GRCm38) |
nonsense |
probably null |
|
|
R4237:Tdrd9
|
UTSW |
12 |
112,067,625 (GRCm38) |
nonsense |
probably null |
|
|
R4482:Tdrd9
|
UTSW |
12 |
112,014,501 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4501:Tdrd9
|
UTSW |
12 |
112,042,809 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4502:Tdrd9
|
UTSW |
12 |
111,993,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4715:Tdrd9
|
UTSW |
12 |
112,041,689 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4803:Tdrd9
|
UTSW |
12 |
111,996,835 (GRCm38) |
nonsense |
probably null |
|
|
R5218:Tdrd9
|
UTSW |
12 |
112,063,475 (GRCm38) |
intron |
probably benign |
|
|
R5275:Tdrd9
|
UTSW |
12 |
112,051,912 (GRCm38) |
nonsense |
probably null |
|
|
R5295:Tdrd9
|
UTSW |
12 |
112,051,912 (GRCm38) |
nonsense |
probably null |
|
|
R5301:Tdrd9
|
UTSW |
12 |
112,036,529 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5339:Tdrd9
|
UTSW |
12 |
112,027,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5500:Tdrd9
|
UTSW |
12 |
112,023,268 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5573:Tdrd9
|
UTSW |
12 |
111,997,902 (GRCm38) |
splice site |
probably null |
|
|
R5590:Tdrd9
|
UTSW |
12 |
112,051,980 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6056:Tdrd9
|
UTSW |
12 |
111,985,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6057:Tdrd9
|
UTSW |
12 |
112,013,286 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6125:Tdrd9
|
UTSW |
12 |
112,068,198 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6254:Tdrd9
|
UTSW |
12 |
112,025,900 (GRCm38) |
splice site |
probably null |
|
|
R6335:Tdrd9
|
UTSW |
12 |
112,041,752 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6345:Tdrd9
|
UTSW |
12 |
112,034,608 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6792:Tdrd9
|
UTSW |
12 |
112,027,113 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6956:Tdrd9
|
UTSW |
12 |
112,036,354 (GRCm38) |
splice site |
probably benign |
|
|
R6987:Tdrd9
|
UTSW |
12 |
112,025,593 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7090:Tdrd9
|
UTSW |
12 |
111,992,470 (GRCm38) |
missense |
probably benign |
|
|
R7158:Tdrd9
|
UTSW |
12 |
112,036,366 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7220:Tdrd9
|
UTSW |
12 |
112,014,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7478:Tdrd9
|
UTSW |
12 |
111,985,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7489:Tdrd9
|
UTSW |
12 |
112,067,637 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7751:Tdrd9
|
UTSW |
12 |
111,992,548 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7809:Tdrd9
|
UTSW |
12 |
112,032,721 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7844:Tdrd9
|
UTSW |
12 |
111,997,952 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7854:Tdrd9
|
UTSW |
12 |
112,046,961 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7903:Tdrd9
|
UTSW |
12 |
112,051,976 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7938:Tdrd9
|
UTSW |
12 |
112,031,215 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8018:Tdrd9
|
UTSW |
12 |
112,044,388 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8018:Tdrd9
|
UTSW |
12 |
112,032,746 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8090:Tdrd9
|
UTSW |
12 |
112,015,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8157:Tdrd9
|
UTSW |
12 |
111,985,066 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8198:Tdrd9
|
UTSW |
12 |
112,040,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8203:Tdrd9
|
UTSW |
12 |
112,025,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8512:Tdrd9
|
UTSW |
12 |
112,046,193 (GRCm38) |
missense |
probably benign |
|
|
R8721:Tdrd9
|
UTSW |
12 |
112,036,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8889:Tdrd9
|
UTSW |
12 |
112,013,284 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8892:Tdrd9
|
UTSW |
12 |
112,013,284 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9276:Tdrd9
|
UTSW |
12 |
112,014,501 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9459:Tdrd9
|
UTSW |
12 |
112,025,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9484:Tdrd9
|
UTSW |
12 |
112,046,250 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9657:Tdrd9
|
UTSW |
12 |
112,036,390 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R9745:Tdrd9
|
UTSW |
12 |
112,042,696 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0018:Tdrd9
|
UTSW |
12 |
112,039,329 (GRCm38) |
missense |
probably benign |
0.24 |
|
Z1177:Tdrd9
|
UTSW |
12 |
112,015,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Tdrd9
|
UTSW |
12 |
111,993,891 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Tdrd9
|
UTSW |
12 |
111,971,654 (GRCm38) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATACTCCTTCCCAAAGAG -3'
(R):5'- CTGACGTTGACAGCATCCTG -3'
Sequencing Primer
(F):5'- TGCATAGTGAGTTCCAAGCC -3'
(R):5'- TTGACAGCATCCTGGGCAC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation