Incidental Mutation 'R6101:Tdrd12'
| ID |
485253 |
| 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 |
044251-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R6101 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35168523-35237170 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 35180558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 818
(Y818*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000187190]
[ENSMUST00000193633]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000187190
AA Change: Y879*
|
| SMART Domains |
Protein: ENSMUSP00000140328
Gene: ENSMUSG00000030491
AA Change: Y879*
| 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 null
Transcript: ENSMUST00000193633
AA Change: Y818*
|
| SMART Domains |
Protein: ENSMUSP00000141796
Gene: ENSMUSG00000030491
AA Change: Y818*
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
| Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
| Aldh4a1 |
C |
T |
4: 139,365,806 (GRCm39) |
P266S |
possibly damaging |
Het |
| Arhgap11a |
G |
A |
2: 113,665,219 (GRCm39) |
R460* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,669,993 (GRCm39) |
D477V |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,438,629 (GRCm39) |
L45Q |
probably damaging |
Het |
| Cnot7 |
C |
T |
8: 40,963,078 (GRCm39) |
R32Q |
probably benign |
Het |
| Csrnp1 |
T |
C |
9: 119,802,551 (GRCm39) |
D220G |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Igha |
T |
A |
12: 113,220,017 (GRCm39) |
|
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,466,814 (GRCm39) |
S490P |
probably benign |
Het |
| Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,607,338 (GRCm39) |
I567T |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
| Map6 |
T |
C |
7: 98,917,314 (GRCm39) |
V29A |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,010,671 (GRCm39) |
V437D |
probably damaging |
Het |
| Mief1 |
T |
C |
15: 80,133,941 (GRCm39) |
Y333H |
probably benign |
Het |
| Or12j4 |
T |
A |
7: 140,046,432 (GRCm39) |
V106D |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,598 (GRCm39) |
F158L |
probably benign |
Het |
| Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
| Pak1ip1 |
T |
A |
13: 41,158,361 (GRCm39) |
L78Q |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
| Pinlyp |
C |
T |
7: 24,245,405 (GRCm39) |
R5K |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
| Pnma8b |
T |
A |
7: 16,680,493 (GRCm39) |
S492R |
probably benign |
Het |
| Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
| Ptprq |
A |
G |
10: 107,416,127 (GRCm39) |
Y1724H |
possibly damaging |
Het |
| Rpn2 |
T |
A |
2: 157,152,108 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,351,716 (GRCm39) |
V755A |
probably damaging |
Het |
| Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
| Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
| Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
| Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
| Trim58 |
A |
G |
11: 58,542,441 (GRCm39) |
N467S |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
| Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
| Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zkscan17 |
A |
T |
11: 59,394,401 (GRCm39) |
C67S |
probably 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 |
|
R3912:Tdrd12
|
UTSW |
7 |
35,187,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
PCR Primer
(F):5'- GGCTCAAAGTTCACGCACTC -3'
(R):5'- TTTCGTGCATACCATGGGG -3'
Sequencing Primer
(F):5'- TCCATAACAGACACTGGTGAG -3'
(R):5'- CCATGGGGTCCTGTTGTGC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation