Incidental Mutation 'R6057:Tdrd9'
| ID |
482995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd9
|
| Ensembl Gene |
ENSMUSG00000054003 |
| Gene Name |
tudor domain containing 9 |
| Synonyms |
4930441E05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R6057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111937993-112035288 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111979720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 402
(M402V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
|
| AlphaFold |
Q14BI7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079009
AA Change: M402V
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: M402V
| 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 |
unknown
Transcript: ENSMUST00000191808
AA Change: M243V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194800
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
A |
G |
6: 52,156,500 (GRCm39) |
|
probably benign |
Het |
| Acan |
A |
G |
7: 78,749,530 (GRCm39) |
S11G |
probably null |
Het |
| Ankrd13d |
A |
C |
19: 4,332,256 (GRCm39) |
V56G |
probably damaging |
Het |
| Arl15 |
A |
G |
13: 114,104,151 (GRCm39) |
Y76C |
probably damaging |
Het |
| Aspg |
G |
A |
12: 112,087,432 (GRCm39) |
C296Y |
probably damaging |
Het |
| Astl |
T |
A |
2: 127,187,889 (GRCm39) |
D101E |
probably benign |
Het |
| Bmpr2 |
A |
G |
1: 59,881,977 (GRCm39) |
N202S |
probably benign |
Het |
| Borcs7 |
T |
C |
19: 46,690,003 (GRCm39) |
*106Q |
probably null |
Het |
| Brip1 |
A |
G |
11: 85,955,865 (GRCm39) |
S883P |
possibly damaging |
Het |
| Cacng2 |
A |
T |
15: 78,002,991 (GRCm39) |
L34Q |
probably damaging |
Het |
| Catip |
A |
C |
1: 74,402,077 (GRCm39) |
D84A |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,510,037 (GRCm39) |
L856S |
possibly damaging |
Het |
| Ccdc38 |
A |
G |
10: 93,417,608 (GRCm39) |
K500E |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,663,122 (GRCm39) |
K21E |
probably damaging |
Het |
| Cd93 |
A |
T |
2: 148,283,439 (GRCm39) |
Y636N |
probably damaging |
Het |
| Cep128 |
A |
T |
12: 91,262,998 (GRCm39) |
N300K |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,269,460 (GRCm39) |
T1155A |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,447,951 (GRCm39) |
L550P |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,618,787 (GRCm39) |
Y1867C |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,249,249 (GRCm39) |
I674N |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2d34 |
T |
C |
15: 82,500,552 (GRCm39) |
H429R |
probably benign |
Het |
| Dab2ip |
T |
A |
2: 35,582,267 (GRCm39) |
C4* |
probably null |
Het |
| Dcaf1 |
A |
G |
9: 106,731,446 (GRCm39) |
E641G |
probably damaging |
Het |
| Dda1 |
T |
A |
8: 71,927,276 (GRCm39) |
|
probably benign |
Het |
| Dmgdh |
C |
T |
13: 93,888,960 (GRCm39) |
T866I |
probably benign |
Het |
| Ect2l |
T |
C |
10: 18,037,250 (GRCm39) |
T383A |
probably benign |
Het |
| Ets2 |
A |
G |
16: 95,515,416 (GRCm39) |
N181D |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,529,357 (GRCm39) |
F222L |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,342,216 (GRCm39) |
L1503P |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,809,777 (GRCm39) |
A2032E |
probably damaging |
Het |
| Gm1818 |
C |
T |
12: 48,602,346 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9493 |
A |
G |
19: 23,597,106 (GRCm39) |
S1G |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,710,942 (GRCm39) |
I868T |
possibly damaging |
Het |
| Ift22 |
A |
T |
5: 136,939,987 (GRCm39) |
T17S |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,170,735 (GRCm39) |
W216R |
probably damaging |
Het |
| Kcnj6 |
A |
T |
16: 94,633,236 (GRCm39) |
W274R |
probably damaging |
Het |
| Kctd19 |
G |
A |
8: 106,123,082 (GRCm39) |
H111Y |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,961,679 (GRCm39) |
V276A |
probably benign |
Het |
| Lig1 |
C |
A |
7: 13,022,598 (GRCm39) |
Q143K |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,403,359 (GRCm39) |
D2071E |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,404,536 (GRCm39) |
M475I |
probably damaging |
Het |
| Mbtd1 |
G |
A |
11: 93,820,485 (GRCm39) |
A427T |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,915,429 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
T |
C |
9: 110,470,945 (GRCm39) |
D308G |
possibly damaging |
Het |
| Ncdn |
T |
C |
4: 126,638,824 (GRCm39) |
Q665R |
probably benign |
Het |
| Nkd1 |
T |
C |
8: 89,316,442 (GRCm39) |
|
probably null |
Het |
| Nktr |
G |
A |
9: 121,577,455 (GRCm39) |
|
probably benign |
Het |
| Npc1l1 |
A |
T |
11: 6,167,806 (GRCm39) |
M995K |
possibly damaging |
Het |
| Or10ag59 |
C |
A |
2: 87,406,363 (GRCm39) |
R312S |
probably benign |
Het |
| Or11g7 |
A |
T |
14: 50,691,201 (GRCm39) |
R231* |
probably null |
Het |
| Or14n1-ps1 |
T |
A |
7: 86,092,397 (GRCm39) |
C69* |
probably null |
Het |
| Padi4 |
T |
C |
4: 140,487,351 (GRCm39) |
T184A |
probably damaging |
Het |
| Pgm2l1 |
C |
T |
7: 99,915,881 (GRCm39) |
P409S |
probably benign |
Het |
| Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,902,006 (GRCm39) |
L513P |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,311,730 (GRCm39) |
I1989N |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,371,716 (GRCm39) |
T1806A |
probably benign |
Het |
| Psd |
T |
C |
19: 46,311,753 (GRCm39) |
E309G |
possibly damaging |
Het |
| Qtrt1 |
C |
T |
9: 21,323,299 (GRCm39) |
T50I |
probably damaging |
Het |
| Rims2 |
A |
C |
15: 39,538,416 (GRCm39) |
T1320P |
probably damaging |
Het |
| Scn11a |
T |
G |
9: 119,594,514 (GRCm39) |
N1293T |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,872,548 (GRCm39) |
F529S |
possibly damaging |
Het |
| Sec14l4 |
A |
T |
11: 3,985,142 (GRCm39) |
D25V |
possibly damaging |
Het |
| Sema3a |
C |
T |
5: 13,615,832 (GRCm39) |
R419C |
probably damaging |
Het |
| Slc12a1 |
T |
C |
2: 125,032,133 (GRCm39) |
Y595H |
probably damaging |
Het |
| Slc25a28 |
A |
T |
19: 43,655,364 (GRCm39) |
H170Q |
possibly damaging |
Het |
| Slc26a1 |
T |
A |
5: 108,821,631 (GRCm39) |
Q86L |
probably damaging |
Het |
| Slc48a1 |
T |
A |
15: 97,687,798 (GRCm39) |
W51R |
probably damaging |
Het |
| Sptlc3 |
T |
A |
2: 139,423,533 (GRCm39) |
V309D |
probably damaging |
Het |
| Srcap |
G |
A |
7: 127,140,528 (GRCm39) |
S1375N |
probably damaging |
Het |
| Tanc1 |
C |
A |
2: 59,647,837 (GRCm39) |
H986Q |
possibly damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,727,353 (GRCm39) |
V486A |
probably damaging |
Het |
| Tceanc2 |
T |
C |
4: 107,004,776 (GRCm39) |
D124G |
probably damaging |
Het |
| Tmem132d |
T |
C |
5: 127,861,934 (GRCm39) |
D729G |
probably damaging |
Het |
| Tmem62 |
T |
A |
2: 120,807,943 (GRCm39) |
I55N |
probably damaging |
Het |
| Tnfrsf21 |
A |
T |
17: 43,350,606 (GRCm39) |
N257Y |
possibly damaging |
Het |
| Trappc3 |
T |
C |
4: 126,167,834 (GRCm39) |
L131P |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,900 (GRCm39) |
M814K |
possibly damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,226 (GRCm39) |
I671V |
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,320,313 (GRCm39) |
D1108V |
probably benign |
Het |
| Xrcc4 |
C |
G |
13: 90,139,198 (GRCm39) |
A241P |
possibly damaging |
Het |
| Xylt1 |
T |
A |
7: 117,191,135 (GRCm39) |
D310E |
probably benign |
Het |
| Zfp27 |
T |
G |
7: 29,594,444 (GRCm39) |
H507P |
possibly damaging |
Het |
| Zfp341 |
C |
T |
2: 154,466,954 (GRCm39) |
P108S |
probably benign |
Het |
| Zfp641 |
T |
C |
15: 98,190,816 (GRCm39) |
N76S |
probably benign |
Het |
| Zfp936 |
T |
C |
7: 42,839,787 (GRCm39) |
V418A |
probably benign |
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 |
|
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'- AGATGAGCTTTTGGGCTTCC -3'
(R):5'- TGGAGTGGATAGACCTGTAACC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation