Incidental Mutation 'R8892:Tdrd9'
ID |
677778 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrd9
|
Ensembl Gene |
ENSMUSG00000054003 |
Gene Name |
tudor domain containing 9 |
Synonyms |
4930441E05Rik |
MMRRC Submission |
068695-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R8892 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
111937993-112035288 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111979718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 401
(Y401C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
|
AlphaFold |
Q14BI7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079009
AA Change: Y401C
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000078022 Gene: ENSMUSG00000054003 AA Change: Y401C
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192125
|
Meta Mutation Damage Score |
0.0794 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.6%
|
Validation Efficiency |
100% (76/76) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
A |
7: 119,815,606 (GRCm39) |
L285I |
probably damaging |
Het |
Abcc2 |
T |
G |
19: 43,795,571 (GRCm39) |
S442R |
possibly damaging |
Het |
Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
Adpgk |
A |
G |
9: 59,217,623 (GRCm39) |
Y212C |
probably damaging |
Het |
Ahcyl1 |
C |
T |
3: 107,579,378 (GRCm39) |
D219N |
probably benign |
Het |
Ap3b1 |
G |
A |
13: 94,679,348 (GRCm39) |
V997M |
unknown |
Het |
Bbs1 |
A |
C |
19: 4,942,954 (GRCm39) |
S479A |
probably benign |
Het |
Bean1 |
A |
T |
8: 104,943,610 (GRCm39) |
D231V |
probably damaging |
Het |
Cacnb1 |
A |
T |
11: 97,901,192 (GRCm39) |
V220E |
probably damaging |
Het |
Camkv |
C |
T |
9: 107,823,333 (GRCm39) |
R120* |
probably null |
Het |
Ccny |
T |
G |
18: 9,345,235 (GRCm39) |
S180R |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,143,284 (GRCm39) |
H3012Q |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,660,468 (GRCm39) |
N476S |
unknown |
Het |
Clasp2 |
T |
A |
9: 113,709,251 (GRCm39) |
L680Q |
probably damaging |
Het |
Clip1 |
A |
T |
5: 123,717,565 (GRCm39) |
S1241R |
probably benign |
Het |
Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,604,634 (GRCm39) |
K1036N |
|
Het |
Ctnna1 |
G |
A |
18: 35,372,586 (GRCm39) |
V514I |
possibly damaging |
Het |
Ddr1 |
A |
C |
17: 35,993,556 (GRCm39) |
I852S |
probably benign |
Het |
Dhrs1 |
G |
A |
14: 55,977,404 (GRCm39) |
A238V |
possibly damaging |
Het |
Echs1 |
A |
C |
7: 139,688,031 (GRCm39) |
L258R |
probably damaging |
Het |
Epha8 |
G |
T |
4: 136,661,850 (GRCm39) |
H582N |
probably benign |
Het |
Fhod3 |
G |
A |
18: 25,189,452 (GRCm39) |
|
probably null |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,226,590 (GRCm39) |
D1855G |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ipo9 |
T |
C |
1: 135,314,544 (GRCm39) |
N904S |
possibly damaging |
Het |
Itih3 |
A |
G |
14: 30,637,635 (GRCm39) |
V508A |
probably benign |
Het |
Klhl14 |
T |
G |
18: 21,691,220 (GRCm39) |
T437P |
possibly damaging |
Het |
Krt5 |
T |
C |
15: 101,619,185 (GRCm39) |
M268V |
probably benign |
Het |
Lama4 |
T |
A |
10: 38,973,194 (GRCm39) |
L1587Q |
probably damaging |
Het |
Lhx4 |
T |
C |
1: 155,581,013 (GRCm39) |
T171A |
possibly damaging |
Het |
Lrfn2 |
A |
C |
17: 49,377,376 (GRCm39) |
E152D |
probably damaging |
Het |
Ltn1 |
A |
T |
16: 87,229,230 (GRCm39) |
|
probably benign |
Het |
Ly9 |
A |
T |
1: 171,421,465 (GRCm39) |
D595E |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,249,036 (GRCm39) |
L7165P |
probably damaging |
Het |
Magi3 |
C |
T |
3: 103,958,141 (GRCm39) |
G648D |
probably damaging |
Het |
Mgll |
T |
A |
6: 88,743,306 (GRCm39) |
C109S |
unknown |
Het |
Micall2 |
T |
A |
5: 139,703,254 (GRCm39) |
H194L |
probably damaging |
Het |
Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
Mmp16 |
T |
A |
4: 18,051,820 (GRCm39) |
Y270N |
probably damaging |
Het |
Naa16 |
A |
T |
14: 79,628,016 (GRCm39) |
F14I |
probably benign |
Het |
Nme6 |
T |
G |
9: 109,668,706 (GRCm39) |
F41V |
probably damaging |
Het |
Npffr1 |
A |
G |
10: 61,449,939 (GRCm39) |
N71S |
possibly damaging |
Het |
Or1b1 |
C |
A |
2: 36,995,523 (GRCm39) |
L46F |
probably damaging |
Het |
Or1p4-ps1 |
T |
C |
11: 74,207,949 (GRCm39) |
W33R |
probably damaging |
Het |
Or4k41 |
A |
G |
2: 111,279,967 (GRCm39) |
I161V |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,677,026 (GRCm39) |
Y1186N |
probably damaging |
Het |
Pou2f1 |
A |
T |
1: 165,708,027 (GRCm39) |
S552T |
unknown |
Het |
Ppp2r3c |
A |
T |
12: 55,336,453 (GRCm39) |
L233Q |
possibly damaging |
Het |
Prl8a1 |
G |
A |
13: 27,766,069 (GRCm39) |
H9Y |
possibly damaging |
Het |
Rnf135 |
C |
T |
11: 80,074,957 (GRCm39) |
T72I |
probably benign |
Het |
Rsf1 |
A |
T |
7: 97,328,171 (GRCm39) |
I1058F |
|
Het |
Slc39a6 |
A |
T |
18: 24,729,386 (GRCm39) |
Y442* |
probably null |
Het |
Slc44a2 |
G |
A |
9: 21,253,153 (GRCm39) |
|
probably benign |
Het |
Slc4a11 |
T |
G |
2: 130,529,140 (GRCm39) |
S437R |
probably damaging |
Het |
Spc24 |
G |
A |
9: 21,668,994 (GRCm39) |
Q98* |
probably null |
Het |
Spock3 |
T |
A |
8: 63,404,986 (GRCm39) |
Y51* |
probably null |
Het |
Sptbn1 |
A |
G |
11: 30,067,800 (GRCm39) |
Y1805H |
probably benign |
Het |
Tango6 |
A |
G |
8: 107,468,845 (GRCm39) |
I780M |
probably benign |
Het |
Tcerg1l |
C |
T |
7: 137,999,260 (GRCm39) |
W41* |
probably null |
Het |
Tex47 |
A |
T |
5: 7,355,115 (GRCm39) |
I99F |
probably damaging |
Het |
Tlr9 |
G |
A |
9: 106,099,834 (GRCm39) |
|
probably benign |
Het |
Tmem209 |
T |
A |
6: 30,497,942 (GRCm39) |
S276C |
possibly damaging |
Het |
Tmprss11f |
A |
C |
5: 86,687,618 (GRCm39) |
S97A |
possibly damaging |
Het |
Top6bl |
A |
G |
19: 4,699,721 (GRCm39) |
V494A |
possibly damaging |
Het |
Ttc7 |
T |
A |
17: 87,637,520 (GRCm39) |
M425K |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,739,466 (GRCm39) |
G3737D |
unknown |
Het |
Tyk2 |
T |
C |
9: 21,027,463 (GRCm39) |
H503R |
probably benign |
Het |
Unc13b |
A |
T |
4: 43,176,484 (GRCm39) |
R2437S |
unknown |
Het |
Uqcrc1 |
C |
T |
9: 108,766,186 (GRCm39) |
R58C |
probably damaging |
Het |
Vmn1r160 |
G |
A |
7: 22,571,474 (GRCm39) |
V276I |
probably benign |
Het |
Vmn2r112 |
A |
G |
17: 22,837,612 (GRCm39) |
Y691C |
probably damaging |
Het |
Vmn2r87 |
A |
C |
10: 130,308,105 (GRCm39) |
I711S |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,464,335 (GRCm39) |
S652P |
possibly damaging |
Het |
Vps50 |
T |
A |
6: 3,536,967 (GRCm39) |
C313S |
probably damaging |
Het |
Xrcc5 |
T |
G |
1: 72,382,190 (GRCm39) |
D455E |
possibly damaging |
Het |
Zdhhc6 |
T |
A |
19: 55,290,987 (GRCm39) |
|
probably benign |
Het |
Zfp964 |
G |
A |
8: 70,116,405 (GRCm39) |
G335D |
probably 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 |
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 |
R9484:Tdrd9
|
UTSW |
12 |
112,012,684 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- AGATGAGCTTTTGGGCTTCC -3'
(R):5'- AATGGAGTGGATAGACCTGTAACC -3'
Sequencing Primer
(F):5'- CTTCTGTTGACCATACATTTGCAGG -3'
(R):5'- TGGATAGACCTGTAACCTAAGAAAC -3'
|
Posted On |
2021-08-02 |