Incidental Mutation 'R9484:Tdrd9'
| ID |
716476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd9
|
| Ensembl Gene |
ENSMUSG00000054003 |
| Gene Name |
tudor domain containing 9 |
| Synonyms |
4930441E05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R9484 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111937993-112035288 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112012684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1203
(S1203P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
|
| AlphaFold |
Q14BI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079009
AA Change: S1203P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: S1203P
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
A |
T |
5: 115,250,845 (GRCm39) |
C151S |
probably damaging |
Het |
| Actr8 |
T |
C |
14: 29,708,301 (GRCm39) |
I193T |
probably benign |
Het |
| Btbd2 |
T |
C |
10: 80,480,103 (GRCm39) |
N419S |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,561,831 (GRCm39) |
W821R |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,626,646 (GRCm39) |
Y214C |
probably benign |
Het |
| Calu |
T |
A |
6: 29,366,162 (GRCm39) |
L180Q |
probably damaging |
Het |
| Corin |
C |
T |
5: 72,497,280 (GRCm39) |
V615I |
probably damaging |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,983 (GRCm39) |
D116E |
probably benign |
Het |
| D630036H23Rik |
C |
A |
12: 36,431,711 (GRCm39) |
A96S |
unknown |
Het |
| Ddx24 |
A |
T |
12: 103,377,555 (GRCm39) |
Y717N |
probably damaging |
Het |
| Dmap1 |
G |
T |
4: 117,533,308 (GRCm39) |
Q249K |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,900,508 (GRCm39) |
W3922R |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,517,773 (GRCm39) |
F2036L |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,625,311 (GRCm39) |
I4064T |
probably benign |
Het |
| Dock9 |
A |
C |
14: 121,818,844 (GRCm39) |
V1546G |
probably damaging |
Het |
| Eif1ad4 |
A |
T |
12: 87,862,249 (GRCm39) |
Q37L |
possibly damaging |
Het |
| Eif3a |
A |
T |
19: 60,755,006 (GRCm39) |
S1059T |
unknown |
Het |
| Ep300 |
A |
G |
15: 81,521,026 (GRCm39) |
E1262G |
unknown |
Het |
| Evl |
T |
A |
12: 108,652,716 (GRCm39) |
I387N |
probably damaging |
Het |
| Fat2 |
A |
C |
11: 55,200,752 (GRCm39) |
V774G |
probably damaging |
Het |
| Fez1 |
T |
A |
9: 36,755,093 (GRCm39) |
Y31N |
probably benign |
Het |
| Fkbp10 |
A |
G |
11: 100,313,960 (GRCm39) |
I435V |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,929,004 (GRCm38) |
D1911G |
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,973,038 (GRCm39) |
Y154C |
probably benign |
Het |
| Fndc10 |
T |
C |
4: 155,779,496 (GRCm39) |
I180T |
possibly damaging |
Het |
| Frmd4a |
G |
A |
2: 4,609,026 (GRCm39) |
V965I |
possibly damaging |
Het |
| Gabrr2 |
A |
G |
4: 33,071,352 (GRCm39) |
H64R |
possibly damaging |
Het |
| Glis3 |
T |
C |
19: 28,508,403 (GRCm39) |
D527G |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,459,989 (GRCm39) |
F33L |
probably damaging |
Het |
| Hbb-bh1 |
C |
T |
7: 103,492,239 (GRCm39) |
E27K |
probably benign |
Het |
| Ifnb1 |
T |
A |
4: 88,440,915 (GRCm39) |
T33S |
probably benign |
Het |
| Igkv4-80 |
T |
A |
6: 68,993,766 (GRCm39) |
T42S |
probably damaging |
Het |
| Irs2 |
C |
T |
8: 11,057,334 (GRCm39) |
G366D |
probably damaging |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,068 (GRCm39) |
C302S |
unknown |
Het |
| Lgi1 |
A |
G |
19: 38,294,757 (GRCm39) |
K510E |
probably benign |
Het |
| Lgi2 |
T |
A |
5: 52,695,936 (GRCm39) |
D341V |
probably benign |
Het |
| Lin7c |
T |
C |
2: 109,724,813 (GRCm39) |
I14T |
probably benign |
Het |
| Lrrc19 |
A |
T |
4: 94,531,573 (GRCm39) |
M13K |
probably benign |
Het |
| Lrrc69 |
T |
C |
4: 14,666,012 (GRCm39) |
I315M |
probably benign |
Het |
| Mtcl3 |
G |
A |
10: 29,072,969 (GRCm39) |
D754N |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,204,770 (GRCm39) |
D1541V |
probably damaging |
Het |
| Mypn |
T |
G |
10: 63,003,019 (GRCm39) |
M373L |
probably benign |
Het |
| Nckipsd |
C |
A |
9: 108,689,837 (GRCm39) |
H333N |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,157,401 (GRCm39) |
L428Q |
probably null |
Het |
| Or13a20 |
T |
C |
7: 140,231,904 (GRCm39) |
L4S |
probably benign |
Het |
| Or2b28 |
C |
A |
13: 21,531,587 (GRCm39) |
T163K |
probably damaging |
Het |
| Or5an11 |
T |
C |
19: 12,245,735 (GRCm39) |
I47T |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,657,894 (GRCm39) |
|
probably null |
Het |
| Otogl |
C |
T |
10: 107,737,156 (GRCm39) |
G86D |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,838,618 (GRCm39) |
Q1249L |
probably benign |
Het |
| Plxna2 |
G |
T |
1: 194,327,202 (GRCm39) |
G379C |
probably damaging |
Het |
| Pofut2 |
T |
C |
10: 77,095,260 (GRCm39) |
I35T |
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,744,887 (GRCm39) |
T501A |
possibly damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,625,821 (GRCm39) |
S1042P |
possibly damaging |
Het |
| Rps6kb1 |
C |
T |
11: 86,408,443 (GRCm39) |
E185K |
probably damaging |
Het |
| Slc13a2 |
A |
T |
11: 78,294,233 (GRCm39) |
L216Q |
probably damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,009,615 (GRCm39) |
Y160C |
probably damaging |
Het |
| Slc22a4 |
T |
A |
11: 53,879,773 (GRCm39) |
I429F |
possibly damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,511,785 (GRCm39) |
K457E |
probably damaging |
Het |
| Slc47a2 |
T |
C |
11: 61,227,060 (GRCm39) |
I169M |
possibly damaging |
Het |
| Slco1a1 |
C |
T |
6: 141,854,672 (GRCm39) |
V660I |
probably benign |
Het |
| Smyd1 |
A |
G |
6: 71,202,450 (GRCm39) |
Y252H |
probably damaging |
Het |
| Spp2 |
A |
T |
1: 88,334,695 (GRCm39) |
|
probably benign |
Het |
| Stra8 |
T |
A |
6: 34,911,121 (GRCm39) |
W250R |
probably damaging |
Het |
| Syne1 |
A |
C |
10: 5,170,359 (GRCm39) |
L5183R |
probably damaging |
Het |
| Th |
C |
A |
7: 142,453,620 (GRCm39) |
E27* |
probably null |
Het |
| Thada |
C |
A |
17: 84,736,619 (GRCm39) |
L887F |
probably damaging |
Het |
| Timm23 |
T |
C |
14: 31,902,586 (GRCm39) |
T186A |
probably benign |
Het |
| Tmem132b |
A |
T |
5: 125,860,420 (GRCm39) |
E555V |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,649,093 (GRCm39) |
Q457L |
unknown |
Het |
| Uba7 |
C |
A |
9: 107,861,037 (GRCm39) |
H942Q |
probably benign |
Het |
| Upf2 |
T |
C |
2: 5,966,078 (GRCm39) |
S233P |
unknown |
Het |
| Urm1 |
T |
A |
2: 29,732,760 (GRCm39) |
N72K |
probably damaging |
Het |
| Usp10 |
T |
C |
8: 120,675,504 (GRCm39) |
S508P |
possibly damaging |
Het |
| Usp37 |
G |
A |
1: 74,499,081 (GRCm39) |
P632S |
probably damaging |
Het |
| Wdr77 |
T |
A |
3: 105,872,404 (GRCm39) |
N209K |
probably benign |
Het |
| Zbtb24 |
C |
T |
10: 41,327,429 (GRCm39) |
T105M |
probably benign |
Het |
| Zfp341 |
T |
A |
2: 154,485,763 (GRCm39) |
I671N |
probably damaging |
Het |
| Zfp414 |
A |
G |
17: 33,848,984 (GRCm39) |
T73A |
probably benign |
Het |
| Zfp574 |
A |
T |
7: 24,781,404 (GRCm39) |
I809F |
possibly damaging |
Het |
| Zfp62 |
T |
C |
11: 49,108,108 (GRCm39) |
I733T |
probably damaging |
Het |
| Zfp719 |
A |
G |
7: 43,239,581 (GRCm39) |
I390V |
possibly damaging |
Het |
|
| Other mutations in Tdrd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Tdrd9
|
APN |
12 |
112,006,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01373:Tdrd9
|
APN |
12 |
112,006,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01542:Tdrd9
|
APN |
12 |
112,013,423 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02967:Tdrd9
|
APN |
12 |
111,958,922 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03063:Tdrd9
|
APN |
12 |
112,010,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03107:Tdrd9
|
APN |
12 |
112,009,274 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0433:Tdrd9
|
UTSW |
12 |
111,992,015 (GRCm39) |
nonsense |
probably null |
|
|
R0453:Tdrd9
|
UTSW |
12 |
112,034,673 (GRCm39) |
missense |
probably benign |
|
|
R0655:Tdrd9
|
UTSW |
12 |
112,006,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Tdrd9
|
UTSW |
12 |
111,974,014 (GRCm39) |
intron |
probably benign |
|
|
R1073:Tdrd9
|
UTSW |
12 |
111,989,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1280:Tdrd9
|
UTSW |
12 |
112,005,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Tdrd9
|
UTSW |
12 |
112,011,238 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1521:Tdrd9
|
UTSW |
12 |
112,002,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Tdrd9
|
UTSW |
12 |
111,989,687 (GRCm39) |
nonsense |
probably null |
|
|
R1651:Tdrd9
|
UTSW |
12 |
111,991,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1715:Tdrd9
|
UTSW |
12 |
112,002,873 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1854:Tdrd9
|
UTSW |
12 |
112,011,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Tdrd9
|
UTSW |
12 |
112,030,061 (GRCm39) |
splice site |
probably benign |
|
|
R2386:Tdrd9
|
UTSW |
12 |
111,982,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2863:Tdrd9
|
UTSW |
12 |
111,997,695 (GRCm39) |
missense |
probably benign |
|
|
R2915:Tdrd9
|
UTSW |
12 |
112,006,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2958:Tdrd9
|
UTSW |
12 |
112,008,106 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4033:Tdrd9
|
UTSW |
12 |
111,958,973 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4087:Tdrd9
|
UTSW |
12 |
111,979,920 (GRCm39) |
nonsense |
probably null |
|
|
R4237:Tdrd9
|
UTSW |
12 |
112,034,059 (GRCm39) |
nonsense |
probably null |
|
|
R4482:Tdrd9
|
UTSW |
12 |
111,980,935 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4501:Tdrd9
|
UTSW |
12 |
112,009,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4502:Tdrd9
|
UTSW |
12 |
111,960,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Tdrd9
|
UTSW |
12 |
112,008,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4803:Tdrd9
|
UTSW |
12 |
111,963,269 (GRCm39) |
nonsense |
probably null |
|
|
R5218:Tdrd9
|
UTSW |
12 |
112,029,909 (GRCm39) |
intron |
probably benign |
|
|
R5275:Tdrd9
|
UTSW |
12 |
112,018,346 (GRCm39) |
nonsense |
probably null |
|
|
R5295:Tdrd9
|
UTSW |
12 |
112,018,346 (GRCm39) |
nonsense |
probably null |
|
|
R5301:Tdrd9
|
UTSW |
12 |
112,002,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5339:Tdrd9
|
UTSW |
12 |
111,993,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5500:Tdrd9
|
UTSW |
12 |
111,989,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5573:Tdrd9
|
UTSW |
12 |
111,964,336 (GRCm39) |
splice site |
probably null |
|
|
R5590:Tdrd9
|
UTSW |
12 |
112,018,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5891:Tdrd9
|
UTSW |
12 |
112,009,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Tdrd9
|
UTSW |
12 |
111,951,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Tdrd9
|
UTSW |
12 |
111,979,720 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6125:Tdrd9
|
UTSW |
12 |
112,034,632 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6254:Tdrd9
|
UTSW |
12 |
111,992,334 (GRCm39) |
splice site |
probably null |
|
|
R6335:Tdrd9
|
UTSW |
12 |
112,008,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6345:Tdrd9
|
UTSW |
12 |
112,001,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6792:Tdrd9
|
UTSW |
12 |
111,993,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6956:Tdrd9
|
UTSW |
12 |
112,002,788 (GRCm39) |
splice site |
probably benign |
|
|
R6987:Tdrd9
|
UTSW |
12 |
111,992,027 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7090:Tdrd9
|
UTSW |
12 |
111,958,904 (GRCm39) |
missense |
probably benign |
|
|
R7158:Tdrd9
|
UTSW |
12 |
112,002,800 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7220:Tdrd9
|
UTSW |
12 |
111,980,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Tdrd9
|
UTSW |
12 |
111,951,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Tdrd9
|
UTSW |
12 |
112,034,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7751:Tdrd9
|
UTSW |
12 |
111,958,982 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7809:Tdrd9
|
UTSW |
12 |
111,999,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7844:Tdrd9
|
UTSW |
12 |
111,964,386 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7854:Tdrd9
|
UTSW |
12 |
112,013,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7903:Tdrd9
|
UTSW |
12 |
112,018,410 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7938:Tdrd9
|
UTSW |
12 |
111,997,649 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8018:Tdrd9
|
UTSW |
12 |
112,010,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8018:Tdrd9
|
UTSW |
12 |
111,999,180 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8090:Tdrd9
|
UTSW |
12 |
111,982,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Tdrd9
|
UTSW |
12 |
111,951,500 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8198:Tdrd9
|
UTSW |
12 |
112,006,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8203:Tdrd9
|
UTSW |
12 |
111,992,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8512:Tdrd9
|
UTSW |
12 |
112,012,627 (GRCm39) |
missense |
probably benign |
|
|
R8721:Tdrd9
|
UTSW |
12 |
112,002,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Tdrd9
|
UTSW |
12 |
111,979,718 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8892:Tdrd9
|
UTSW |
12 |
111,979,718 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9276:Tdrd9
|
UTSW |
12 |
111,980,935 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9459:Tdrd9
|
UTSW |
12 |
111,992,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Tdrd9
|
UTSW |
12 |
112,002,824 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9745:Tdrd9
|
UTSW |
12 |
112,009,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0018:Tdrd9
|
UTSW |
12 |
112,005,763 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1177:Tdrd9
|
UTSW |
12 |
111,982,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tdrd9
|
UTSW |
12 |
111,960,325 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Tdrd9
|
UTSW |
12 |
111,938,088 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTCTGAGGTTCACTCTGG -3'
(R):5'- GCACTCAGAAAAGAGCTTAACG -3'
Sequencing Primer
(F):5'- TCACTCTGGGCTGGCATG -3'
(R):5'- ACAGGACCCAGGTTCATTTCTCAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation