Incidental Mutation 'R0098:Tdrd12'
| ID |
17026 |
| 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 |
038384-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R0098 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
35168523-35237170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35175418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 996
(L996P)
|
| 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: L1057P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140328
Gene: ENSMUSG00000030491
AA Change: L1057P
| 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: L996P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141796
Gene: ENSMUSG00000030491
AA Change: L996P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TUDOR
|
1 |
129 |
2.7e-24 |
PFAM |
|
Pfam:DEAD
|
273 |
606 |
7.6e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.2827 |
| Coding Region Coverage |
- 1x: 90.4%
- 3x: 88.1%
- 10x: 82.9%
- 20x: 75.6%
|
| Validation Efficiency |
93% (78/84) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
A |
T |
17: 36,207,309 (GRCm39) |
|
probably benign |
Het |
| Acad9 |
T |
C |
3: 36,127,689 (GRCm39) |
I97T |
probably damaging |
Het |
| Adam32 |
T |
A |
8: 25,404,405 (GRCm39) |
Y200F |
possibly damaging |
Het |
| Adcy4 |
T |
C |
14: 56,007,284 (GRCm39) |
N976S |
possibly damaging |
Het |
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,482,982 (GRCm39) |
L342S |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,598,056 (GRCm39) |
H72Q |
possibly damaging |
Het |
| Ankrd10 |
T |
C |
8: 11,662,560 (GRCm39) |
H391R |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,465,390 (GRCm39) |
V2151A |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,429,869 (GRCm39) |
D389G |
probably benign |
Het |
| Atp10b |
A |
T |
11: 43,080,431 (GRCm39) |
S236C |
probably benign |
Het |
| B3gat1 |
C |
T |
9: 26,668,237 (GRCm39) |
R276C |
probably damaging |
Het |
| Bcl9l |
C |
T |
9: 44,416,914 (GRCm39) |
P251S |
probably benign |
Het |
| Cdhr5 |
C |
A |
7: 140,849,781 (GRCm39) |
G331W |
probably damaging |
Het |
| Cmklr1 |
T |
C |
5: 113,752,531 (GRCm39) |
T157A |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,646,949 (GRCm39) |
E246D |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,595,385 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,909,792 (GRCm39) |
L1078P |
probably damaging |
Het |
| Cyp20a1 |
G |
T |
1: 60,426,413 (GRCm39) |
E452* |
probably null |
Het |
| Emb |
T |
C |
13: 117,404,034 (GRCm39) |
V262A |
probably damaging |
Het |
| Ephb1 |
C |
T |
9: 101,918,339 (GRCm39) |
R390H |
probably damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,696 (GRCm39) |
L556S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,189,431 (GRCm39) |
T1196A |
probably damaging |
Het |
| Fbf1 |
A |
T |
11: 116,038,945 (GRCm39) |
|
probably null |
Het |
| Gid8 |
T |
A |
2: 180,356,528 (GRCm39) |
I55N |
possibly damaging |
Het |
| Hexa |
T |
C |
9: 59,465,383 (GRCm39) |
Y213H |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,863,989 (GRCm39) |
K234E |
probably damaging |
Het |
| Ighv1-58 |
C |
T |
12: 115,275,919 (GRCm39) |
G73E |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,795,989 (GRCm39) |
I1262K |
possibly damaging |
Het |
| Lrp1 |
C |
T |
10: 127,388,607 (GRCm39) |
V3281I |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,305,756 (GRCm39) |
D2935G |
probably damaging |
Het |
| Lypd6 |
T |
A |
2: 50,080,792 (GRCm39) |
V160E |
probably benign |
Het |
| Muc19 |
C |
T |
15: 91,777,101 (GRCm39) |
|
noncoding transcript |
Het |
| Nrxn3 |
A |
G |
12: 89,226,971 (GRCm39) |
D202G |
probably damaging |
Het |
| Nxn |
A |
T |
11: 76,169,420 (GRCm39) |
|
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,026 (GRCm39) |
I216K |
probably benign |
Het |
| Palld |
C |
A |
8: 61,978,120 (GRCm39) |
G890V |
probably damaging |
Het |
| Pcx |
C |
A |
19: 4,651,775 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,639,441 (GRCm39) |
S416P |
unknown |
Het |
| Ppa2 |
C |
T |
3: 133,076,234 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,888 (GRCm39) |
I254M |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
| Rd3 |
A |
G |
1: 191,717,261 (GRCm39) |
M244V |
probably benign |
Het |
| Rfx5 |
T |
A |
3: 94,865,679 (GRCm39) |
V326E |
probably damaging |
Het |
| Rgs3 |
G |
C |
4: 62,544,143 (GRCm39) |
R305P |
probably damaging |
Het |
| Rpp40 |
A |
G |
13: 36,082,970 (GRCm39) |
Y173H |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,731,376 (GRCm39) |
N645D |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,302,446 (GRCm39) |
V657A |
possibly damaging |
Het |
| Serpina3n |
T |
A |
12: 104,379,777 (GRCm39) |
V390E |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 43,962,709 (GRCm39) |
Y141C |
unknown |
Het |
| Smg1 |
A |
T |
7: 117,744,690 (GRCm39) |
M3154K |
probably benign |
Het |
| Tfrc |
G |
T |
16: 32,442,244 (GRCm39) |
V490F |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,343,784 (GRCm39) |
S53G |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,619,188 (GRCm39) |
Y1262H |
possibly damaging |
Het |
| Ttc3 |
A |
T |
16: 94,191,124 (GRCm39) |
H222L |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,125,393 (GRCm39) |
|
probably benign |
Het |
| Unk |
A |
G |
11: 115,940,995 (GRCm39) |
Y252C |
probably damaging |
Het |
| Vwc2l |
A |
G |
1: 70,768,290 (GRCm39) |
Y71C |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,834 (GRCm39) |
L184* |
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 |
|
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 |
|
|
|
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 |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation