Incidental Mutation 'R8379:Tdrd12'
| ID |
646857 |
| 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 |
067810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R8379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
35168523-35237170 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 35223482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 67
(C67*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032701]
[ENSMUST00000127472]
[ENSMUST00000187190]
[ENSMUST00000193633]
[ENSMUST00000205407]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032701
AA Change: C67*
|
| SMART Domains |
Protein: ENSMUSP00000032701
Gene: ENSMUSG00000030491
AA Change: C67*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TUDOR
|
1 |
129 |
4e-27 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127472
AA Change: C14*
|
| SMART Domains |
Protein: ENSMUSP00000118671
Gene: ENSMUSG00000030491
AA Change: C14*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TUDOR
|
3 |
76 |
6.3e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187190
AA Change: C67*
|
| SMART Domains |
Protein: ENSMUSP00000140328
Gene: ENSMUSG00000030491
AA Change: C67*
| 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: C67*
|
| SMART Domains |
Protein: ENSMUSP00000141796
Gene: ENSMUSG00000030491
AA Change: C67*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TUDOR
|
1 |
129 |
2.7e-24 |
PFAM |
|
Pfam:DEAD
|
273 |
606 |
7.6e-7 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205407
AA Change: C14*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
T |
C |
11: 71,920,126 (GRCm39) |
D314G |
probably benign |
Het |
| Ankrd12 |
T |
G |
17: 66,290,939 (GRCm39) |
E1498A |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,647,372 (GRCm39) |
|
probably null |
Het |
| Auh |
A |
G |
13: 53,063,349 (GRCm39) |
*116R |
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,691,417 (GRCm39) |
H402L |
probably benign |
Het |
| Ccr4 |
T |
C |
9: 114,321,235 (GRCm39) |
T277A |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,889,072 (GRCm39) |
V1302I |
probably benign |
Het |
| Csnk1a1 |
T |
C |
18: 61,688,925 (GRCm39) |
I35T |
probably benign |
Het |
| Csnk1e |
T |
C |
15: 79,304,882 (GRCm39) |
R374G |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,437,020 (GRCm39) |
R105G |
probably benign |
Het |
| Denr |
C |
A |
5: 124,065,124 (GRCm39) |
T159K |
possibly damaging |
Het |
| Dmp1 |
C |
A |
5: 104,359,571 (GRCm39) |
Y82* |
probably null |
Het |
| Dok3 |
A |
G |
13: 55,671,833 (GRCm39) |
V246A |
probably benign |
Het |
| Endov |
A |
C |
11: 119,382,723 (GRCm39) |
K57Q |
possibly damaging |
Het |
| Fam83a |
A |
G |
15: 57,873,196 (GRCm39) |
T342A |
probably benign |
Het |
| Fbln1 |
G |
A |
15: 85,116,773 (GRCm39) |
C275Y |
probably damaging |
Het |
| Fhip1b |
T |
C |
7: 105,034,342 (GRCm39) |
N430D |
possibly damaging |
Het |
| Foxi1 |
A |
G |
11: 34,157,530 (GRCm39) |
I165T |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,642,275 (GRCm39) |
I649F |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,899,967 (GRCm39) |
S305P |
probably damaging |
Het |
| Grm1 |
G |
A |
10: 10,564,879 (GRCm39) |
T1143M |
possibly damaging |
Het |
| Ifi202b |
C |
A |
1: 173,802,298 (GRCm39) |
|
probably null |
Het |
| Klhl32 |
A |
T |
4: 24,629,194 (GRCm39) |
D491E |
probably damaging |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Krt13 |
A |
G |
11: 100,009,706 (GRCm39) |
L358P |
probably damaging |
Het |
| Limk2 |
G |
A |
11: 3,321,162 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,756,453 (GRCm39) |
D4720G |
probably null |
Het |
| Mkln1 |
T |
A |
6: 31,435,900 (GRCm39) |
Y286* |
probably null |
Het |
| Muc6 |
C |
A |
7: 141,230,579 (GRCm39) |
E1143* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,901,551 (GRCm39) |
I242M |
probably benign |
Het |
| Noc4l |
T |
G |
5: 110,798,828 (GRCm39) |
K241Q |
probably damaging |
Het |
| Nup88 |
C |
A |
11: 70,860,607 (GRCm39) |
L57F |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or51aa2 |
A |
G |
7: 103,188,183 (GRCm39) |
I86T |
possibly damaging |
Het |
| Orm1 |
A |
T |
4: 63,264,355 (GRCm39) |
D137V |
probably damaging |
Het |
| Osbpl2 |
T |
A |
2: 179,778,895 (GRCm39) |
D9E |
probably damaging |
Het |
| P4ha3 |
G |
T |
7: 99,942,986 (GRCm39) |
D124Y |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,943,354 (GRCm39) |
V208A |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,931,843 (GRCm39) |
D963G |
probably damaging |
Het |
| Prdx6 |
G |
T |
1: 161,078,660 (GRCm39) |
D9E |
probably benign |
Het |
| Prrc2b |
C |
A |
2: 32,104,666 (GRCm39) |
N1381K |
probably damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,565,598 (GRCm39) |
V222E |
possibly damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rexo5 |
A |
T |
7: 119,433,508 (GRCm39) |
M422L |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Robo2 |
A |
T |
16: 73,730,588 (GRCm39) |
I1008N |
probably damaging |
Het |
| Sidt1 |
T |
A |
16: 44,106,755 (GRCm39) |
Y225F |
probably benign |
Het |
| Slc6a15 |
A |
T |
10: 103,225,048 (GRCm39) |
E45D |
probably benign |
Het |
| Spata31d1a |
T |
G |
13: 59,850,668 (GRCm39) |
M487L |
probably benign |
Het |
| St6galnac1 |
C |
A |
11: 116,666,325 (GRCm39) |
|
probably benign |
Het |
| Tcp11l2 |
A |
G |
10: 84,449,469 (GRCm39) |
Y478C |
probably damaging |
Het |
| Tead2 |
G |
A |
7: 44,867,505 (GRCm39) |
G78D |
probably damaging |
Het |
| Tfpi2 |
A |
T |
6: 3,963,849 (GRCm39) |
N194K |
probably damaging |
Het |
| Timd2 |
A |
G |
11: 46,568,027 (GRCm39) |
|
probably null |
Het |
| Tmem270 |
T |
C |
5: 134,930,557 (GRCm39) |
T235A |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,774,157 (GRCm39) |
D224G |
|
Het |
| Tsga10 |
G |
T |
1: 37,840,959 (GRCm39) |
Q416K |
probably benign |
Het |
| Ulk1 |
C |
A |
5: 110,935,531 (GRCm39) |
L911F |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,584,491 (GRCm39) |
S567P |
probably benign |
Het |
| Vmn2r-ps158 |
C |
T |
7: 42,697,270 (GRCm39) |
P776S |
probably damaging |
Het |
| Zdhhc3 |
A |
C |
9: 122,918,143 (GRCm39) |
C129G |
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 |
|
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 |
|
|
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'- ACTGCCATCTGTCTCCTTAAGG -3'
(R):5'- ATTCCTTATGCTAGCCGGAGC -3'
Sequencing Primer
(F):5'- CTGTCTCCTTAAGGCATGTAAGAC -3'
(R):5'- AAGTGTTGACTTCTGGAACTTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation