Incidental Mutation 'R6254:Tdrd9'
ID |
506013 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrd9
|
Ensembl Gene |
ENSMUSG00000054003 |
Gene Name |
tudor domain containing 9 |
Synonyms |
4930441E05Rik |
MMRRC Submission |
044371-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
R6254 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
111937993-112035288 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 111992334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
|
AlphaFold |
Q14BI7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000079009
|
SMART Domains |
Protein: ENSMUSP00000078022 Gene: ENSMUSG00000054003
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194800
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.4%
|
Validation Efficiency |
100% (82/82) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
T |
12: 113,453,190 (GRCm39) |
L2F |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,735,453 (GRCm39) |
|
probably benign |
Het |
Anpep |
T |
G |
7: 79,488,981 (GRCm39) |
D369A |
probably damaging |
Het |
App |
T |
C |
16: 84,775,065 (GRCm39) |
E599G |
probably damaging |
Het |
Asphd1 |
C |
T |
7: 126,548,040 (GRCm39) |
V88I |
probably benign |
Het |
Atad5 |
A |
T |
11: 80,018,215 (GRCm39) |
I1389F |
probably damaging |
Het |
Blm |
T |
C |
7: 80,130,090 (GRCm39) |
N950S |
probably benign |
Het |
Bsn |
A |
T |
9: 107,989,065 (GRCm39) |
M2229K |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,386,415 (GRCm39) |
M181V |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,329,162 (GRCm39) |
|
probably null |
Het |
Cdh1 |
T |
A |
8: 107,390,430 (GRCm39) |
V590D |
probably damaging |
Het |
Cdk5rap2 |
G |
A |
4: 70,282,269 (GRCm39) |
T160M |
probably damaging |
Het |
Cfap97d2 |
A |
G |
8: 13,756,043 (GRCm39) |
D26G |
possibly damaging |
Het |
Cfhr4 |
A |
G |
1: 139,682,128 (GRCm39) |
I156T |
probably damaging |
Het |
Chrna5 |
A |
G |
9: 54,913,740 (GRCm39) |
M325V |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,507,895 (GRCm39) |
I116T |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 43,993,902 (GRCm39) |
K488R |
probably benign |
Het |
Edil3 |
T |
A |
13: 89,467,848 (GRCm39) |
I451N |
probably damaging |
Het |
Exph5 |
T |
G |
9: 53,284,010 (GRCm39) |
S364A |
possibly damaging |
Het |
Fam98c |
A |
G |
7: 28,853,942 (GRCm39) |
S209P |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,907,441 (GRCm39) |
L2854F |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,638,571 (GRCm39) |
|
probably null |
Het |
Fermt2 |
T |
C |
14: 45,713,516 (GRCm39) |
D205G |
probably damaging |
Het |
Fmnl1 |
G |
A |
11: 103,087,141 (GRCm39) |
|
probably benign |
Het |
Fn3k |
A |
G |
11: 121,325,894 (GRCm39) |
E27G |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,815,098 (GRCm39) |
H378R |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,938,045 (GRCm39) |
K140E |
possibly damaging |
Het |
Gm7694 |
A |
T |
1: 170,130,103 (GRCm39) |
C98* |
probably null |
Het |
Golgb1 |
T |
C |
16: 36,734,340 (GRCm39) |
S1196P |
probably damaging |
Het |
Gpm6a |
G |
A |
8: 55,500,431 (GRCm39) |
|
probably null |
Het |
Hltf |
T |
A |
3: 20,117,993 (GRCm39) |
N80K |
possibly damaging |
Het |
Il1rap |
G |
A |
16: 26,514,020 (GRCm39) |
R251H |
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,648,267 (GRCm39) |
D688E |
probably benign |
Het |
Itgal |
T |
A |
7: 126,924,375 (GRCm39) |
N897K |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,674,982 (GRCm39) |
|
probably null |
Het |
Kcnk13 |
A |
G |
12: 99,931,631 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
A |
G |
6: 39,147,203 (GRCm39) |
L248P |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,554,872 (GRCm39) |
E1254G |
possibly damaging |
Het |
Ldah |
G |
A |
12: 8,325,912 (GRCm39) |
|
probably benign |
Het |
Lingo1 |
T |
A |
9: 56,527,371 (GRCm39) |
D406V |
possibly damaging |
Het |
Lratd2 |
A |
G |
15: 60,695,650 (GRCm39) |
I32T |
probably damaging |
Het |
Lrriq1 |
A |
T |
10: 103,051,312 (GRCm39) |
V480E |
probably benign |
Het |
Mtcl1 |
C |
T |
17: 66,665,129 (GRCm39) |
R1142H |
probably benign |
Het |
Mtmr3 |
G |
A |
11: 4,447,381 (GRCm39) |
Q360* |
probably null |
Het |
Muc6 |
T |
C |
7: 141,237,380 (GRCm39) |
N252S |
probably benign |
Het |
Naa20 |
T |
C |
2: 145,745,240 (GRCm39) |
L4P |
probably damaging |
Het |
Neb |
T |
A |
2: 52,112,973 (GRCm39) |
I4274L |
probably benign |
Het |
Noa1 |
A |
T |
5: 77,457,516 (GRCm39) |
F130I |
probably benign |
Het |
Nrg4 |
G |
T |
9: 55,143,796 (GRCm39) |
H87N |
possibly damaging |
Het |
Or51ai2 |
T |
A |
7: 103,586,741 (GRCm39) |
H51Q |
probably benign |
Het |
Or5m12 |
T |
A |
2: 85,734,849 (GRCm39) |
Y183F |
probably damaging |
Het |
P3h3 |
C |
T |
6: 124,822,564 (GRCm39) |
E536K |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,554,771 (GRCm39) |
S34P |
probably damaging |
Het |
Pik3r1 |
T |
C |
13: 101,825,914 (GRCm39) |
T71A |
possibly damaging |
Het |
Plaur |
T |
A |
7: 24,166,225 (GRCm39) |
C99S |
possibly damaging |
Het |
Plekha5 |
G |
A |
6: 140,532,162 (GRCm39) |
G501E |
probably damaging |
Het |
Plxnd1 |
C |
T |
6: 115,954,921 (GRCm39) |
V614M |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,025,786 (GRCm39) |
D307G |
possibly damaging |
Het |
Prl3d3 |
C |
T |
13: 27,341,453 (GRCm39) |
S28F |
possibly damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Ptk7 |
C |
A |
17: 46,883,568 (GRCm39) |
Q832H |
probably damaging |
Het |
Qser1 |
T |
C |
2: 104,620,435 (GRCm39) |
S126G |
probably benign |
Het |
Rab3ip |
A |
T |
10: 116,751,772 (GRCm39) |
C332S |
probably damaging |
Het |
Raly |
C |
A |
2: 154,699,286 (GRCm39) |
T30K |
probably damaging |
Het |
Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
Rps6ka1 |
C |
T |
4: 133,594,535 (GRCm39) |
M159I |
possibly damaging |
Het |
Rufy3 |
C |
T |
5: 88,732,168 (GRCm39) |
T57I |
probably benign |
Het |
Samd4 |
A |
G |
14: 47,254,088 (GRCm39) |
D184G |
probably damaging |
Het |
Slc35f3 |
T |
C |
8: 127,047,833 (GRCm39) |
C58R |
possibly damaging |
Het |
Smarca4 |
T |
C |
9: 21,611,173 (GRCm39) |
I1467T |
probably damaging |
Het |
Spag17 |
T |
G |
3: 99,972,901 (GRCm39) |
I1371S |
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,897,561 (GRCm39) |
L1228P |
possibly damaging |
Het |
Stk31 |
C |
T |
6: 49,398,631 (GRCm39) |
A344V |
probably benign |
Het |
Supt16 |
A |
G |
14: 52,408,291 (GRCm39) |
W885R |
probably damaging |
Het |
Tmod1 |
A |
G |
4: 46,078,469 (GRCm39) |
|
probably null |
Het |
Tnfsf13 |
A |
C |
11: 69,575,309 (GRCm39) |
|
probably null |
Het |
Trim75 |
C |
A |
8: 65,436,094 (GRCm39) |
E119* |
probably null |
Het |
Wdr6 |
T |
C |
9: 108,452,110 (GRCm39) |
Y591C |
probably damaging |
Het |
Wdr86 |
C |
T |
5: 24,923,281 (GRCm39) |
R137H |
probably benign |
Het |
Ythdf1 |
T |
A |
2: 180,552,943 (GRCm39) |
Y424F |
probably damaging |
Het |
Zfp984 |
G |
T |
4: 147,840,643 (GRCm39) |
S69R |
possibly damaging |
Het |
Zyg11a |
A |
G |
4: 108,038,991 (GRCm39) |
F743L |
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 |
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 |
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'- TCATCATAGGTGAGTGGGACCG -3'
(R):5'- TCAGCCTCAGGAAATACCGC -3'
Sequencing Primer
(F):5'- ACAGCTGCTGTGGGGACAG -3'
(R):5'- TCCTGTGAGAGCCACCAGAAG -3'
|
Posted On |
2018-02-28 |