Incidental Mutation 'R8157:Tdrd9'
| ID |
633086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd9
|
| Ensembl Gene |
ENSMUSG00000054003 |
| Gene Name |
tudor domain containing 9 |
| Synonyms |
4930441E05Rik |
| MMRRC Submission |
067583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R8157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111937993-112035288 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 111951500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 97
(L97V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
[ENSMUST00000170525]
[ENSMUST00000185354]
[ENSMUST00000189759]
[ENSMUST00000190536]
|
| AlphaFold |
Q14BI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079009
AA Change: L97V
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: L97V
| 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: ENSMUST00000170525
|
| SMART Domains |
Protein: ENSMUSP00000130014
Gene: ENSMUSG00000091402
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
5 |
133 |
5.3e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185354
|
| SMART Domains |
Protein: ENSMUSP00000140987
Gene: ENSMUSG00000091402
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
4 |
100 |
2.9e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189759
|
| SMART Domains |
Protein: ENSMUSP00000140454
Gene: ENSMUSG00000091402
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
4 |
135 |
2.4e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190536
|
| SMART Domains |
Protein: ENSMUSP00000140410
Gene: ENSMUSG00000091402
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
4 |
135 |
2.4e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190680
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310011J03Rik |
T |
A |
10: 80,155,361 (GRCm39) |
R51W |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,197,453 (GRCm39) |
I326T |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,743,470 (GRCm39) |
K1096E |
probably benign |
Het |
| Aph1a |
T |
C |
3: 95,802,150 (GRCm39) |
V44A |
possibly damaging |
Het |
| Ash1l |
T |
A |
3: 88,971,014 (GRCm39) |
|
probably null |
Het |
| Atg2b |
A |
G |
12: 105,629,199 (GRCm39) |
M410T |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,165,936 (GRCm39) |
F228S |
possibly damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,226,753 (GRCm39) |
G407D |
probably benign |
Het |
| Cd200r4 |
T |
A |
16: 44,653,504 (GRCm39) |
N137K |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,798,683 (GRCm39) |
L438P |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,768,782 (GRCm39) |
S606P |
probably benign |
Het |
| Col11a2 |
G |
A |
17: 34,280,230 (GRCm39) |
G1193E |
unknown |
Het |
| Col6a4 |
A |
G |
9: 105,945,097 (GRCm39) |
S1006P |
possibly damaging |
Het |
| Ctsc |
A |
T |
7: 87,951,416 (GRCm39) |
D221V |
probably benign |
Het |
| Ctse |
T |
C |
1: 131,600,249 (GRCm39) |
Y333H |
probably damaging |
Het |
| Cyp2c23 |
T |
C |
19: 44,010,066 (GRCm39) |
N93S |
probably benign |
Het |
| Daam1 |
A |
T |
12: 71,999,263 (GRCm39) |
D633V |
probably damaging |
Het |
| Dlg2 |
G |
A |
7: 92,036,140 (GRCm39) |
R607H |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,713,606 (GRCm39) |
D192E |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,001,473 (GRCm39) |
N3838K |
possibly damaging |
Het |
| Ephx2 |
A |
C |
14: 66,345,506 (GRCm39) |
S153A |
probably damaging |
Het |
| Eprs1 |
C |
A |
1: 185,130,591 (GRCm39) |
H651N |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,142,910 (GRCm39) |
D4313G |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,702,714 (GRCm39) |
K252R |
probably benign |
Het |
| Galt |
A |
T |
4: 41,757,226 (GRCm39) |
Q193L |
probably benign |
Het |
| Gm7356 |
T |
C |
17: 14,221,583 (GRCm39) |
K149E |
probably damaging |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,838,073 (GRCm39) |
R696S |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,178,668 (GRCm39) |
I1088V |
probably benign |
Het |
| Igkv4-68 |
A |
T |
6: 69,282,306 (GRCm39) |
S14R |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Ldlrad4 |
C |
T |
18: 68,387,293 (GRCm39) |
R202* |
probably null |
Het |
| Lrit3 |
T |
C |
3: 129,594,284 (GRCm39) |
T98A |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,409,728 (GRCm39) |
I165M |
probably benign |
Het |
| Mapre2 |
T |
A |
18: 23,991,218 (GRCm39) |
M162K |
probably benign |
Het |
| Mzf1 |
T |
A |
7: 12,778,279 (GRCm39) |
H454L |
probably damaging |
Het |
| Naa30 |
T |
A |
14: 49,410,865 (GRCm39) |
N264K |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,352 (GRCm39) |
V208A |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,759,762 (GRCm39) |
Y117* |
probably null |
Het |
| Osr2 |
T |
C |
15: 35,302,063 (GRCm39) |
I221T |
probably benign |
Het |
| Pcdh12 |
A |
T |
18: 38,415,850 (GRCm39) |
I425K |
probably benign |
Het |
| Pcdhb3 |
T |
G |
18: 37,436,292 (GRCm39) |
Y753D |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,208 (GRCm39) |
V734E |
probably damaging |
Het |
| Pibf1 |
T |
A |
14: 99,433,831 (GRCm39) |
L593I |
probably benign |
Het |
| Prag1 |
G |
A |
8: 36,614,393 (GRCm39) |
C1315Y |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,383,330 (GRCm39) |
S19P |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,002,539 (GRCm39) |
D1543V |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,879,600 (GRCm39) |
N356S |
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,321,690 (GRCm39) |
V497A |
possibly damaging |
Het |
| Saxo4 |
A |
T |
19: 10,455,629 (GRCm39) |
F207I |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,931,037 (GRCm39) |
H914R |
possibly damaging |
Het |
| Sema6b |
G |
A |
17: 56,435,448 (GRCm39) |
A265V |
probably damaging |
Het |
| Tle7 |
A |
G |
8: 110,835,493 (GRCm39) |
M24V |
probably benign |
Het |
| Trabd |
T |
A |
15: 88,970,024 (GRCm39) |
L340H |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,849,017 (GRCm39) |
W88R |
probably damaging |
Het |
| Txndc12 |
G |
T |
4: 108,710,419 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,523 (GRCm39) |
I35V |
probably benign |
Het |
| Vmn1r48 |
A |
T |
6: 90,012,994 (GRCm39) |
V277E |
probably damaging |
Het |
| Vmn2r72 |
G |
A |
7: 85,400,441 (GRCm39) |
H203Y |
probably benign |
Het |
| Zbtb7c |
A |
G |
18: 76,270,398 (GRCm39) |
E162G |
probably benign |
Het |
| Zfp93 |
T |
A |
7: 23,975,885 (GRCm39) |
C623* |
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,155,285 (GRCm39) |
I645V |
probably null |
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 |
|
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'- TCAGTCCATCTCTATCTGGTAACTG -3'
(R):5'- CGAAGAACAGGATATTCTGGCTC -3'
Sequencing Primer
(F):5'- TGCTCAGAAACTTCGTGC -3'
(R):5'- CCCCCATTTTTAATTAAGAAGCCATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation