Incidental Mutation 'R1651:Tdrd9'
| ID |
186411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd9
|
| Ensembl Gene |
ENSMUSG00000054003 |
| Gene Name |
tudor domain containing 9 |
| Synonyms |
4930441E05Rik |
| MMRRC Submission |
039687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R1651 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111937993-112035288 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 111991140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 543
(D543E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
|
| AlphaFold |
Q14BI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079009
AA Change: D543E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: D543E
| 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: D384E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193586
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194800
|
| Meta Mutation Damage Score |
0.1943 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
97% (66/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
| Acss1 |
A |
T |
2: 150,480,357 (GRCm39) |
V238D |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,635,972 (GRCm39) |
I3512M |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,171,096 (GRCm39) |
Q1292R |
probably damaging |
Het |
| Bpnt2 |
A |
G |
4: 4,792,737 (GRCm39) |
F123L |
probably damaging |
Het |
| Caskin1 |
C |
T |
17: 24,721,186 (GRCm39) |
R509C |
possibly damaging |
Het |
| Cd47 |
T |
C |
16: 49,714,591 (GRCm39) |
V147A |
possibly damaging |
Het |
| Cdc20b |
T |
A |
13: 113,215,258 (GRCm39) |
Y275* |
probably null |
Het |
| Chd4 |
A |
G |
6: 125,100,547 (GRCm39) |
D1745G |
possibly damaging |
Het |
| Crmp1 |
T |
A |
5: 37,430,783 (GRCm39) |
S250T |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,802,214 (GRCm39) |
K1125E |
probably benign |
Het |
| Crybg2 |
C |
A |
4: 133,802,136 (GRCm39) |
P1099T |
possibly damaging |
Het |
| Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,675,064 (GRCm39) |
T733A |
probably damaging |
Het |
| Edar |
A |
G |
10: 58,441,875 (GRCm39) |
V339A |
possibly damaging |
Het |
| Efcab3 |
A |
G |
11: 104,611,492 (GRCm39) |
R445G |
probably benign |
Het |
| Efcab6 |
A |
G |
15: 83,755,194 (GRCm39) |
I1374T |
possibly damaging |
Het |
| Erbb2 |
G |
A |
11: 98,324,283 (GRCm39) |
R757K |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,854,710 (GRCm39) |
V33A |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,531,191 (GRCm39) |
|
probably null |
Het |
| Fcmr |
A |
G |
1: 130,805,988 (GRCm39) |
T315A |
probably benign |
Het |
| Gdf9 |
G |
A |
11: 53,324,576 (GRCm39) |
R115Q |
probably damaging |
Het |
| Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
| H2-M10.1 |
A |
G |
17: 36,636,648 (GRCm39) |
V52A |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,260,748 (GRCm39) |
C1582* |
probably null |
Het |
| Icam2 |
C |
T |
11: 106,268,782 (GRCm39) |
V229M |
probably damaging |
Het |
| Itga7 |
C |
T |
10: 128,784,693 (GRCm39) |
P735L |
probably benign |
Het |
| Kbtbd3 |
C |
A |
9: 4,330,589 (GRCm39) |
P321Q |
possibly damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,364,262 (GRCm39) |
T997S |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,144,504 (GRCm39) |
F541S |
probably damaging |
Het |
| Klhdc9 |
C |
A |
1: 171,188,016 (GRCm39) |
V72L |
probably benign |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,511 (GRCm39) |
T308A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,569,091 (GRCm39) |
E1210G |
unknown |
Het |
| Mocs3 |
A |
G |
2: 168,073,489 (GRCm39) |
Y312C |
probably damaging |
Het |
| Mrps7 |
G |
T |
11: 115,495,581 (GRCm39) |
E40* |
probably null |
Het |
| Msantd5f1 |
A |
T |
4: 73,605,621 (GRCm39) |
N344I |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,972,382 (GRCm39) |
H50R |
probably benign |
Het |
| Myb |
A |
G |
10: 21,002,097 (GRCm39) |
F748S |
probably damaging |
Het |
| Myo10 |
C |
A |
15: 25,742,455 (GRCm39) |
H590N |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,358,419 (GRCm39) |
E939G |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,239,278 (GRCm39) |
V107E |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,623,462 (GRCm39) |
N1011I |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,057,078 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,335 (GRCm39) |
L68P |
probably damaging |
Het |
| Or4c118 |
A |
C |
2: 88,975,346 (GRCm39) |
V7G |
probably damaging |
Het |
| Pcgf6 |
A |
T |
19: 47,037,441 (GRCm39) |
C153S |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,817,434 (GRCm39) |
V81A |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,550,331 (GRCm39) |
N36D |
probably benign |
Het |
| Prkch |
A |
G |
12: 73,805,775 (GRCm39) |
T517A |
possibly damaging |
Het |
| Rasal1 |
A |
T |
5: 120,790,910 (GRCm39) |
K33* |
probably null |
Het |
| Rp1l1 |
G |
A |
14: 64,268,442 (GRCm39) |
E1343K |
probably damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,020,406 (GRCm39) |
D234G |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Smyd3 |
T |
G |
1: 178,871,441 (GRCm39) |
I313L |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,715,453 (GRCm39) |
L114P |
probably damaging |
Het |
| Tmprss11c |
G |
A |
5: 86,387,283 (GRCm39) |
P212S |
probably damaging |
Het |
| Tmx2 |
A |
T |
2: 84,506,461 (GRCm39) |
M77K |
probably damaging |
Het |
| Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
| Trappc12 |
C |
T |
12: 28,741,776 (GRCm39) |
M711I |
probably benign |
Het |
| Trim2 |
A |
G |
3: 84,074,957 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
A |
G |
5: 151,485,464 (GRCm39) |
S677P |
probably damaging |
Het |
| Wdr7 |
T |
A |
18: 63,853,847 (GRCm39) |
L60* |
probably null |
Het |
| Wdr93 |
T |
C |
7: 79,399,830 (GRCm39) |
F140L |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,931,719 (GRCm39) |
T802A |
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 |
|
|
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 |
|
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'- CCGTGTCTGTGGCCCTTTAATACTG -3'
(R):5'- GCTGAGCTTTGCAACAGCTAAACC -3'
Sequencing Primer
(F):5'- tcacagtccttttgcccc -3'
(R):5'- ACAGCTAAACCACTTTATAGACTAGG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation