Incidental Mutation 'R1715:Tdrd9'
| ID |
190957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd9
|
| Ensembl Gene |
ENSMUSG00000054003 |
| Gene Name |
tudor domain containing 9 |
| Synonyms |
4930441E05Rik |
| MMRRC Submission |
039748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R1715 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111937993-112035288 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112002873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 841
(K841E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
|
| AlphaFold |
Q14BI7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079009
AA Change: K841E
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: K841E
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,982,406 (GRCm39) |
T12M |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
| Atp10a |
G |
A |
7: 58,436,253 (GRCm39) |
V348I |
probably damaging |
Het |
| Best2 |
T |
C |
8: 85,737,852 (GRCm39) |
Y181C |
probably benign |
Het |
| Btaf1 |
T |
A |
19: 36,946,521 (GRCm39) |
D442E |
probably damaging |
Het |
| Carmil3 |
T |
G |
14: 55,741,989 (GRCm39) |
V1153G |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,876,003 (GRCm39) |
I993M |
probably damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Cip2a |
C |
T |
16: 48,826,082 (GRCm39) |
T383I |
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,949,430 (GRCm39) |
L580P |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,830 (GRCm39) |
E109G |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,256,384 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
G |
T |
8: 120,750,388 (GRCm39) |
W264L |
possibly damaging |
Het |
| Cyp2c38 |
T |
C |
19: 39,393,239 (GRCm39) |
H276R |
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,085,914 (GRCm39) |
V409E |
possibly damaging |
Het |
| Efcab15 |
T |
C |
11: 103,090,650 (GRCm39) |
|
probably null |
Het |
| Emc8 |
T |
C |
8: 121,385,294 (GRCm39) |
N146S |
probably benign |
Het |
| Glt8d1 |
T |
C |
14: 30,733,478 (GRCm39) |
V321A |
possibly damaging |
Het |
| Gm5174 |
C |
T |
10: 86,492,776 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac10 |
G |
T |
15: 89,010,912 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,482,881 (GRCm39) |
D3144G |
possibly damaging |
Het |
| Ifna11 |
C |
T |
4: 88,738,473 (GRCm39) |
S93L |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,297,936 (GRCm39) |
N431S |
probably benign |
Het |
| Irf8 |
A |
T |
8: 121,481,127 (GRCm39) |
E237V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,075,993 (GRCm39) |
Y1769H |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,524,073 (GRCm39) |
N761D |
probably damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,269,469 (GRCm39) |
Y207C |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,739,583 (GRCm39) |
E765G |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,434,177 (GRCm39) |
D80G |
probably damaging |
Het |
| Or12k8 |
G |
A |
2: 36,975,188 (GRCm39) |
P191S |
probably damaging |
Het |
| Or2ag15 |
G |
C |
7: 106,340,755 (GRCm39) |
P129A |
probably damaging |
Het |
| Or7g18 |
A |
T |
9: 18,787,090 (GRCm39) |
I156F |
probably benign |
Het |
| Pcyt2 |
T |
A |
11: 120,506,677 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
T |
C |
6: 115,945,642 (GRCm39) |
T944A |
probably benign |
Het |
| Prss3b |
A |
G |
6: 41,009,870 (GRCm39) |
|
probably null |
Het |
| Psd4 |
A |
T |
2: 24,295,344 (GRCm39) |
I833F |
probably damaging |
Het |
| Psmd7 |
A |
G |
8: 108,307,817 (GRCm39) |
I222T |
probably benign |
Het |
| Rap2b |
A |
G |
3: 61,272,611 (GRCm39) |
E45G |
probably damaging |
Het |
| Rbm22 |
T |
C |
18: 60,693,916 (GRCm39) |
S7P |
possibly damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,680,144 (GRCm39) |
N107S |
probably damaging |
Het |
| Ripk2 |
T |
A |
4: 16,155,192 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
T |
A |
14: 52,378,148 (GRCm39) |
C499S |
possibly damaging |
Het |
| Scarf1 |
T |
C |
11: 75,414,870 (GRCm39) |
S515P |
probably damaging |
Het |
| Sgip1 |
T |
C |
4: 102,772,256 (GRCm39) |
V215A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,796,343 (GRCm39) |
I1813V |
possibly damaging |
Het |
| Slc17a3 |
A |
T |
13: 24,040,724 (GRCm39) |
T317S |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,237,821 (GRCm39) |
N340S |
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,820,256 (GRCm39) |
I176V |
probably benign |
Het |
| Smim17 |
T |
C |
7: 6,432,325 (GRCm39) |
L89S |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,386,051 (GRCm39) |
N95S |
probably damaging |
Het |
| Tep1 |
G |
T |
14: 51,092,024 (GRCm39) |
F570L |
possibly damaging |
Het |
| Tgm3 |
G |
A |
2: 129,868,734 (GRCm39) |
|
probably null |
Het |
| Tra2b |
T |
C |
16: 22,071,496 (GRCm39) |
Y128C |
possibly damaging |
Het |
| Vmn2r17 |
T |
C |
5: 109,576,110 (GRCm39) |
V327A |
probably benign |
Het |
| Wdr20rt |
A |
T |
12: 65,274,088 (GRCm39) |
D344V |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,363 (GRCm39) |
C515R |
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 |
|
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 |
|
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'- GCAGATCGTCGGTCTTAAGCCAATC -3'
(R):5'- TCCTTCAACAGCGGCATAGCAC -3'
Sequencing Primer
(F):5'- GTCGGTCTTAAGCCAATCAATATTTC -3'
(R):5'- ACCTGCTGACAGAGCCAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation