Incidental Mutation 'R3912:Tdrd12'
ID |
474533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdrd12
|
Ensembl Gene |
ENSMUSG00000030491 |
Gene Name |
tudor domain containing 12 |
Synonyms |
EG434165, 2410004F06Rik, ecat8, repro23, G1-476-14, 2410070K17Rik |
MMRRC Submission |
040910-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R3912 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
35168523-35237170 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35187138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 584
(I584T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141796
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000187190]
[ENSMUST00000193633]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187190
AA Change: I559T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140328 Gene: ENSMUSG00000030491 AA Change: I559T
Domain | Start | End | E-Value | Type |
Pfam:TUDOR
|
1 |
129 |
5.1e-24 |
PFAM |
Pfam:DEAD
|
276 |
581 |
1.8e-6 |
PFAM |
Pfam:TUDOR
|
852 |
973 |
4.9e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193633
AA Change: I584T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141796 Gene: ENSMUSG00000030491 AA Change: I584T
Domain | Start | End | E-Value | Type |
Pfam:TUDOR
|
1 |
129 |
2.7e-24 |
PFAM |
Pfam:DEAD
|
273 |
606 |
7.6e-7 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (56/56) |
MGI Phenotype |
PHENOTYPE: Homozygous males are infertile with small testes. Spermatogenesis is arrested predominantly at the pachytene spermatocyte stage. Retrotransposon hopping is derepressed in germ cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot1 |
A |
G |
12: 84,063,806 (GRCm39) |
S305G |
probably damaging |
Het |
Acot12 |
A |
G |
13: 91,918,208 (GRCm39) |
D167G |
probably benign |
Het |
Adgra1 |
T |
C |
7: 139,425,630 (GRCm39) |
|
probably null |
Het |
Adh7 |
T |
A |
3: 137,927,541 (GRCm39) |
V29E |
probably damaging |
Het |
Aopep |
G |
T |
13: 63,304,520 (GRCm39) |
E402* |
probably null |
Het |
Atp2c2 |
A |
G |
8: 120,448,015 (GRCm39) |
K103E |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,924,642 (GRCm39) |
D285G |
probably benign |
Het |
Ccdc158 |
G |
C |
5: 92,796,794 (GRCm39) |
T514S |
possibly damaging |
Het |
Cdhr5 |
T |
A |
7: 140,853,770 (GRCm39) |
D210V |
probably damaging |
Het |
Cndp1 |
C |
T |
18: 84,650,124 (GRCm39) |
D190N |
probably benign |
Het |
Eepd1 |
C |
T |
9: 25,394,600 (GRCm39) |
T288M |
probably damaging |
Het |
Erbin |
G |
T |
13: 103,998,795 (GRCm39) |
T197K |
probably benign |
Het |
Erbin |
G |
A |
13: 104,022,846 (GRCm39) |
|
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
Gbp3 |
C |
T |
3: 142,272,099 (GRCm39) |
|
probably benign |
Het |
Gm14326 |
T |
C |
2: 177,587,658 (GRCm39) |
K446R |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,748,185 (GRCm39) |
Y518H |
probably damaging |
Het |
Id2 |
T |
A |
12: 25,145,871 (GRCm39) |
K47* |
probably null |
Het |
Ilf2 |
A |
G |
3: 90,394,367 (GRCm39) |
N295S |
probably benign |
Het |
Ilf3 |
C |
T |
9: 21,309,422 (GRCm39) |
A526V |
possibly damaging |
Het |
Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrrc7 |
G |
A |
3: 157,997,589 (GRCm39) |
L158F |
probably damaging |
Het |
Mroh9 |
C |
T |
1: 162,893,638 (GRCm39) |
C179Y |
probably damaging |
Het |
Mrps18b |
C |
T |
17: 36,221,831 (GRCm39) |
V165I |
probably benign |
Het |
Myrip |
A |
G |
9: 120,261,682 (GRCm39) |
S432G |
probably benign |
Het |
Nutm2 |
C |
T |
13: 50,626,976 (GRCm39) |
A377V |
possibly damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
Pate4 |
C |
A |
9: 35,523,140 (GRCm39) |
M1I |
probably null |
Het |
Pax7 |
C |
A |
4: 139,508,209 (GRCm39) |
W272L |
probably benign |
Het |
Ppp1r12b |
C |
T |
1: 134,815,056 (GRCm39) |
E320K |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,327,619 (GRCm39) |
Y278C |
probably damaging |
Het |
Pvr |
T |
C |
7: 19,643,217 (GRCm39) |
N339D |
probably benign |
Het |
Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,787,313 (GRCm39) |
I1020T |
probably damaging |
Het |
Scn4a |
T |
A |
11: 106,211,542 (GRCm39) |
I1492F |
probably damaging |
Het |
Sec16a |
C |
T |
2: 26,304,399 (GRCm39) |
G2304D |
probably damaging |
Het |
Shisa7 |
T |
A |
7: 4,833,239 (GRCm39) |
R341* |
probably null |
Het |
Slc19a3 |
T |
A |
1: 83,000,424 (GRCm39) |
M198L |
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,863,753 (GRCm39) |
N669Y |
possibly damaging |
Het |
Slco1a7 |
A |
G |
6: 141,673,362 (GRCm39) |
F392S |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,674,610 (GRCm39) |
T534A |
possibly damaging |
Het |
Susd4 |
A |
T |
1: 182,715,031 (GRCm39) |
Y284F |
probably damaging |
Het |
Tas1r1 |
A |
T |
4: 152,116,381 (GRCm39) |
Y418N |
probably damaging |
Het |
Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
Vmn1r39 |
C |
T |
6: 66,782,125 (GRCm39) |
M27I |
probably benign |
Het |
Vmn2r59 |
T |
C |
7: 41,695,744 (GRCm39) |
T223A |
probably benign |
Het |
Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
Vwa5a |
T |
C |
9: 38,646,039 (GRCm39) |
I469T |
probably damaging |
Het |
Wnt3a |
A |
C |
11: 59,140,828 (GRCm39) |
D229E |
possibly damaging |
Het |
|
Other mutations in Tdrd12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01330:Tdrd12
|
APN |
7 |
35,204,459 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01879:Tdrd12
|
APN |
7 |
35,221,348 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02026:Tdrd12
|
APN |
7 |
35,203,658 (GRCm39) |
splice site |
probably benign |
|
IGL02186:Tdrd12
|
APN |
7 |
35,200,826 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4131001:Tdrd12
|
UTSW |
7 |
35,180,528 (GRCm39) |
nonsense |
probably null |
|
R0071:Tdrd12
|
UTSW |
7 |
35,228,671 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0071:Tdrd12
|
UTSW |
7 |
35,228,671 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0098:Tdrd12
|
UTSW |
7 |
35,175,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R0366:Tdrd12
|
UTSW |
7 |
35,208,227 (GRCm39) |
missense |
probably benign |
0.25 |
R2050:Tdrd12
|
UTSW |
7 |
35,228,672 (GRCm39) |
missense |
probably damaging |
0.98 |
R2851:Tdrd12
|
UTSW |
7 |
35,184,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R3715:Tdrd12
|
UTSW |
7 |
35,204,405 (GRCm39) |
missense |
probably benign |
0.05 |
R3859:Tdrd12
|
UTSW |
7 |
35,193,245 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4656:Tdrd12
|
UTSW |
7 |
35,184,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R4826:Tdrd12
|
UTSW |
7 |
35,203,582 (GRCm39) |
missense |
probably benign |
0.00 |
R4969:Tdrd12
|
UTSW |
7 |
35,186,720 (GRCm39) |
splice site |
probably null |
|
R5202:Tdrd12
|
UTSW |
7 |
35,189,455 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5321:Tdrd12
|
UTSW |
7 |
35,177,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R5642:Tdrd12
|
UTSW |
7 |
35,210,725 (GRCm39) |
missense |
probably damaging |
0.99 |
R5709:Tdrd12
|
UTSW |
7 |
35,175,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R5835:Tdrd12
|
UTSW |
7 |
35,228,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R6029:Tdrd12
|
UTSW |
7 |
35,184,655 (GRCm39) |
missense |
probably damaging |
0.98 |
R6101:Tdrd12
|
UTSW |
7 |
35,180,558 (GRCm39) |
nonsense |
probably null |
|
R6341:Tdrd12
|
UTSW |
7 |
35,189,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R6631:Tdrd12
|
UTSW |
7 |
35,184,654 (GRCm39) |
missense |
probably damaging |
0.99 |
R6939:Tdrd12
|
UTSW |
7 |
35,185,024 (GRCm39) |
critical splice donor site |
probably null |
|
R7032:Tdrd12
|
UTSW |
7 |
35,180,471 (GRCm39) |
nonsense |
probably null |
|
R7058:Tdrd12
|
UTSW |
7 |
35,177,534 (GRCm39) |
missense |
unknown |
|
R7096:Tdrd12
|
UTSW |
7 |
35,187,014 (GRCm39) |
missense |
|
|
R7203:Tdrd12
|
UTSW |
7 |
35,188,648 (GRCm39) |
nonsense |
probably null |
|
R7229:Tdrd12
|
UTSW |
7 |
35,179,705 (GRCm39) |
missense |
unknown |
|
R7265:Tdrd12
|
UTSW |
7 |
35,187,147 (GRCm39) |
missense |
|
|
R7284:Tdrd12
|
UTSW |
7 |
35,179,561 (GRCm39) |
splice site |
probably null |
|
R7347:Tdrd12
|
UTSW |
7 |
35,185,117 (GRCm39) |
missense |
|
|
R7501:Tdrd12
|
UTSW |
7 |
35,177,516 (GRCm39) |
missense |
unknown |
|
R7789:Tdrd12
|
UTSW |
7 |
35,188,117 (GRCm39) |
missense |
|
|
R8374:Tdrd12
|
UTSW |
7 |
35,177,486 (GRCm39) |
missense |
unknown |
|
R8379:Tdrd12
|
UTSW |
7 |
35,223,482 (GRCm39) |
nonsense |
probably null |
|
R8798:Tdrd12
|
UTSW |
7 |
35,228,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9053:Tdrd12
|
UTSW |
7 |
35,204,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R9062:Tdrd12
|
UTSW |
7 |
35,179,694 (GRCm39) |
missense |
unknown |
|
R9491:Tdrd12
|
UTSW |
7 |
35,188,689 (GRCm39) |
missense |
|
|
R9745:Tdrd12
|
UTSW |
7 |
35,185,964 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
|
Posted On |
2017-04-14 |