Incidental Mutation 'R8374:Tdrd12'
| ID |
646575 |
| 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 |
067742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R8374 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35168523-35237170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35177486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 956
(D956G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000187190]
[ENSMUST00000193633]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000140328
Gene: ENSMUSG00000030491
AA Change: D1017G
| 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 |
unknown
Transcript: ENSMUST00000193633
AA Change: D956G
|
| SMART Domains |
Protein: ENSMUSP00000141796
Gene: ENSMUSG00000030491
AA Change: D956G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
C |
T |
9: 30,814,002 (GRCm39) |
G721E |
probably benign |
Het |
| Aip |
A |
T |
19: 4,165,456 (GRCm39) |
M170K |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,585,973 (GRCm39) |
I276T |
probably benign |
Het |
| Arid1b |
C |
T |
17: 5,392,919 (GRCm39) |
P2097S |
possibly damaging |
Het |
| Astn1 |
T |
G |
1: 158,329,803 (GRCm39) |
N219K |
probably damaging |
Het |
| Cbx2 |
G |
T |
11: 118,918,969 (GRCm39) |
R178L |
probably damaging |
Het |
| Clptm1 |
G |
A |
7: 19,372,081 (GRCm39) |
P252S |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,902,175 (GRCm39) |
S2355P |
probably damaging |
Het |
| D130043K22Rik |
C |
A |
13: 25,041,962 (GRCm39) |
T297K |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,427,205 (GRCm39) |
D760G |
probably benign |
Het |
| Dgka |
T |
C |
10: 128,557,112 (GRCm39) |
N621S |
probably benign |
Het |
| Ear10 |
A |
T |
14: 44,160,645 (GRCm39) |
C61S |
probably damaging |
Het |
| F12 |
A |
T |
13: 55,569,144 (GRCm39) |
C238S |
probably damaging |
Het |
| Fen1 |
A |
G |
19: 10,177,824 (GRCm39) |
F207L |
probably benign |
Het |
| Fzr1 |
A |
G |
10: 81,203,368 (GRCm39) |
L486P |
probably damaging |
Het |
| Gdnf |
A |
G |
15: 7,864,176 (GRCm39) |
R196G |
probably benign |
Het |
| Gldc |
A |
C |
19: 30,114,594 (GRCm39) |
F439V |
probably damaging |
Het |
| Gm3138 |
T |
C |
14: 4,251,688 (GRCm38) |
M120T |
probably damaging |
Het |
| Gpi1 |
G |
A |
7: 33,920,082 (GRCm39) |
A197V |
probably benign |
Het |
| Ighv1-4 |
T |
A |
12: 114,450,899 (GRCm39) |
I70F |
probably benign |
Het |
| Il19 |
A |
T |
1: 130,866,893 (GRCm39) |
L29Q |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,389,005 (GRCm39) |
I893F |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,025,884 (GRCm39) |
S1414P |
probably damaging |
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mosmo |
T |
A |
7: 120,329,715 (GRCm39) |
M112K |
probably benign |
Het |
| Ntmt2 |
A |
T |
1: 163,530,617 (GRCm39) |
M274K |
probably damaging |
Het |
| Or2d2b |
A |
G |
7: 106,706,033 (GRCm39) |
F12L |
probably damaging |
Het |
| Or2h1b |
C |
A |
17: 37,462,636 (GRCm39) |
V76F |
probably damaging |
Het |
| Or2w3b |
T |
A |
11: 58,623,724 (GRCm39) |
D89V |
probably damaging |
Het |
| Pak6 |
G |
A |
2: 118,524,477 (GRCm39) |
V497I |
probably benign |
Het |
| Ppargc1b |
G |
A |
18: 61,443,564 (GRCm39) |
S549F |
probably damaging |
Het |
| Rassf8 |
T |
A |
6: 145,760,863 (GRCm39) |
L63* |
probably null |
Het |
| Rptn |
G |
T |
3: 93,303,602 (GRCm39) |
G312* |
probably null |
Het |
| Rsph14 |
T |
C |
10: 74,797,481 (GRCm39) |
I169V |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,469,227 (GRCm39) |
D162G |
probably null |
Het |
| Tatdn1 |
C |
T |
15: 58,788,000 (GRCm39) |
|
probably null |
Het |
| Tbx4 |
A |
C |
11: 85,805,102 (GRCm39) |
E397A |
probably benign |
Het |
| Tnr |
G |
A |
1: 159,685,953 (GRCm39) |
V395I |
probably benign |
Het |
| Ugt1a2 |
A |
T |
1: 88,129,107 (GRCm39) |
H250L |
possibly damaging |
Het |
| Vmn1r173 |
C |
T |
7: 23,401,920 (GRCm39) |
H52Y |
probably damaging |
Het |
| Vps11 |
T |
C |
9: 44,267,706 (GRCm39) |
D302G |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,836,468 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
|
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'- AATGCCCACATGCACTGTC -3'
(R):5'- CTCAGAGAGCTGTATGGGAAGC -3'
Sequencing Primer
(F):5'- CCACATGCACTGTCACCATG -3'
(R):5'- GCAGAGGCATTATGTTCAATGAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation