Incidental Mutation 'R0334:Tnks'
| ID |
26127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnks
|
| Ensembl Gene |
ENSMUSG00000031529 |
| Gene Name |
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase |
| Synonyms |
mTNKS1, TANK1, tankyrase 1, 4930554K12Rik, D130072O21Rik |
| MMRRC Submission |
038543-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0334 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
35296333-35432844 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 35320413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 753
(K753*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033929]
|
| AlphaFold |
Q6PFX9 |
| PDB Structure |
Crystal structure of a mouse Tankyrase-Axin complex [X-RAY DIFFRACTION]
Co-crystal structure of tankyrase 1 with compound 3 [(4S)-3-{4-[6-amino-5-(pyrimidin-2-yl)pyridin-3-yl]phenyl}-5,5-dimethyl-4-phenyl-1,3-oxazolidin-2-one] [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000033929
AA Change: K753*
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: K753*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
175 |
N/A |
INTRINSIC |
|
ANK
|
208 |
237 |
4.26e-4 |
SMART |
|
ANK
|
241 |
270 |
3.23e-4 |
SMART |
|
ANK
|
274 |
303 |
3.28e-5 |
SMART |
|
ANK
|
327 |
355 |
2.66e3 |
SMART |
|
ANK
|
361 |
390 |
7.64e-6 |
SMART |
|
ANK
|
394 |
423 |
2.62e-4 |
SMART |
|
ANK
|
427 |
456 |
1.99e-4 |
SMART |
|
ANK
|
514 |
546 |
3.18e-3 |
SMART |
|
ANK
|
550 |
579 |
1.51e-4 |
SMART |
|
ANK
|
583 |
612 |
4.26e-4 |
SMART |
|
ANK
|
642 |
670 |
2.21e3 |
SMART |
|
ANK
|
676 |
705 |
4.03e-5 |
SMART |
|
ANK
|
709 |
738 |
2.48e-5 |
SMART |
|
ANK
|
742 |
771 |
1.64e-5 |
SMART |
|
low complexity region
|
792 |
810 |
N/A |
INTRINSIC |
|
ANK
|
829 |
858 |
1.47e-7 |
SMART |
|
ANK
|
862 |
891 |
2.21e-2 |
SMART |
|
ANK
|
895 |
924 |
3.13e-2 |
SMART |
|
low complexity region
|
996 |
1010 |
N/A |
INTRINSIC |
|
SAM
|
1017 |
1082 |
1.14e-12 |
SMART |
|
Pfam:PARP
|
1098 |
1303 |
1.5e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209904
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.6%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele fail to exhibit any abonormalities. Male mice homozygous for a gene trapped allele exhibit decreased fat pad weight, increased metabolism, hyperinsulinemia, and hypoglycemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
T |
C |
13: 95,508,105 (GRCm39) |
N87S |
probably benign |
Het |
| Ap2b1 |
T |
C |
11: 83,258,700 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,468,029 (GRCm39) |
Y1724H |
probably damaging |
Het |
| Arhgef10l |
G |
A |
4: 140,311,237 (GRCm39) |
Q243* |
probably null |
Het |
| Atp8a2 |
A |
T |
14: 59,928,961 (GRCm39) |
F1031Y |
probably damaging |
Het |
| Bmp8b |
A |
G |
4: 123,008,553 (GRCm39) |
|
probably null |
Het |
| Brinp2 |
G |
T |
1: 158,123,155 (GRCm39) |
T37K |
probably benign |
Het |
| Bsph1 |
T |
A |
7: 13,184,864 (GRCm39) |
L9* |
probably null |
Het |
| C6 |
T |
G |
15: 4,784,849 (GRCm39) |
N238K |
probably benign |
Het |
| Cbs |
T |
C |
17: 31,838,130 (GRCm39) |
D373G |
probably damaging |
Het |
| Clec4a3 |
T |
C |
6: 122,946,329 (GRCm39) |
F191S |
possibly damaging |
Het |
| Cpz |
A |
G |
5: 35,661,025 (GRCm39) |
V530A |
probably damaging |
Het |
| Ctsc |
G |
T |
7: 87,927,550 (GRCm39) |
S47I |
possibly damaging |
Het |
| Cyp7b1 |
T |
G |
3: 18,157,960 (GRCm39) |
Y53S |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Defb4 |
T |
C |
8: 19,251,220 (GRCm39) |
I29T |
probably benign |
Het |
| Disc1 |
A |
T |
8: 125,987,836 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,327,662 (GRCm39) |
M3429T |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,472,213 (GRCm39) |
I3518N |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 31,090,325 (GRCm39) |
H4609L |
probably damaging |
Het |
| Evi5 |
C |
A |
5: 107,968,401 (GRCm39) |
C182F |
probably damaging |
Het |
| Fam149b |
G |
A |
14: 20,413,492 (GRCm39) |
R237H |
probably damaging |
Het |
| Fut8 |
T |
A |
12: 77,440,536 (GRCm39) |
D174E |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,370,580 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gpr176 |
T |
C |
2: 118,110,189 (GRCm39) |
S357G |
probably benign |
Het |
| Grwd1 |
A |
T |
7: 45,476,601 (GRCm39) |
|
probably null |
Het |
| H2-T24 |
A |
G |
17: 36,325,772 (GRCm39) |
V273A |
possibly damaging |
Het |
| Hdac4 |
A |
C |
1: 91,883,760 (GRCm39) |
|
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,895,802 (GRCm39) |
T1017A |
probably damaging |
Het |
| Hsd11b1 |
T |
C |
1: 192,924,476 (GRCm39) |
|
probably benign |
Het |
| Igsf23 |
T |
C |
7: 19,675,678 (GRCm39) |
S143G |
probably benign |
Het |
| Kbtbd12 |
T |
A |
6: 88,594,888 (GRCm39) |
Y314F |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,508 (GRCm39) |
|
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,532,260 (GRCm39) |
I479M |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,058,068 (GRCm39) |
T600A |
probably damaging |
Het |
| Mrgprb2 |
A |
C |
7: 48,202,077 (GRCm39) |
I216S |
probably damaging |
Het |
| Muc21 |
A |
G |
17: 35,933,614 (GRCm39) |
|
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,461,084 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 89,780,412 (GRCm39) |
|
probably null |
Het |
| Or2ag2 |
A |
G |
7: 106,485,622 (GRCm39) |
V134A |
probably benign |
Het |
| Or8b54 |
A |
T |
9: 38,686,535 (GRCm39) |
|
probably null |
Het |
| Or8g26 |
A |
G |
9: 39,095,980 (GRCm39) |
I169V |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,284,760 (GRCm39) |
S66T |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,062,206 (GRCm39) |
E2604G |
probably damaging |
Het |
| Plekha6 |
G |
T |
1: 133,209,918 (GRCm39) |
A654S |
probably benign |
Het |
| Pnpla2 |
G |
A |
7: 141,039,433 (GRCm39) |
|
probably null |
Het |
| Pramel19 |
T |
C |
4: 101,798,781 (GRCm39) |
F251L |
probably benign |
Het |
| Prb1c |
T |
A |
6: 132,341,021 (GRCm39) |
Q17L |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,554,663 (GRCm39) |
D2128G |
probably benign |
Het |
| Rabggta |
A |
T |
14: 55,958,268 (GRCm39) |
L131Q |
probably damaging |
Het |
| Rbks |
A |
T |
5: 31,781,863 (GRCm39) |
Y312* |
probably null |
Het |
| Rnf139 |
A |
G |
15: 58,771,322 (GRCm39) |
Y449C |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,567,129 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,524,931 (GRCm39) |
V1058A |
possibly damaging |
Het |
| Sema3a |
A |
T |
5: 13,607,268 (GRCm39) |
N321I |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,469,928 (GRCm39) |
V310E |
probably damaging |
Het |
| Slitrk5 |
T |
C |
14: 111,918,256 (GRCm39) |
S627P |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,113,736 (GRCm39) |
F172I |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,352,923 (GRCm39) |
R788S |
unknown |
Het |
| Trank1 |
T |
A |
9: 111,194,421 (GRCm39) |
V815D |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,222,008 (GRCm39) |
I2915N |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,610,344 (GRCm39) |
S271P |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,640,613 (GRCm39) |
Q213R |
probably benign |
Het |
| Ulk3 |
C |
T |
9: 57,501,510 (GRCm39) |
|
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,258,185 (GRCm39) |
D694G |
probably damaging |
Het |
| Wnt3a |
A |
G |
11: 59,147,144 (GRCm39) |
S181P |
probably damaging |
Het |
| Yipf3 |
T |
C |
17: 46,559,238 (GRCm39) |
F22S |
possibly damaging |
Het |
| Zbtb40 |
A |
T |
4: 136,713,867 (GRCm39) |
H1094Q |
probably damaging |
Het |
|
| Other mutations in Tnks |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Tnks
|
APN |
8 |
35,328,843 (GRCm39) |
splice site |
probably benign |
|
|
IGL00901:Tnks
|
APN |
8 |
35,305,549 (GRCm39) |
nonsense |
probably null |
|
|
IGL01448:Tnks
|
APN |
8 |
35,307,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Tnks
|
APN |
8 |
35,408,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01962:Tnks
|
APN |
8 |
35,336,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02088:Tnks
|
APN |
8 |
35,307,148 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02260:Tnks
|
APN |
8 |
35,310,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02454:Tnks
|
APN |
8 |
35,298,882 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02486:Tnks
|
APN |
8 |
35,318,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02612:Tnks
|
APN |
8 |
35,316,453 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03179:Tnks
|
APN |
8 |
35,315,824 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03404:Tnks
|
APN |
8 |
35,407,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0256:Tnks
|
UTSW |
8 |
35,328,701 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0265:Tnks
|
UTSW |
8 |
35,307,124 (GRCm39) |
nonsense |
probably null |
|
|
R0414:Tnks
|
UTSW |
8 |
35,320,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0526:Tnks
|
UTSW |
8 |
35,320,457 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0622:Tnks
|
UTSW |
8 |
35,407,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Tnks
|
UTSW |
8 |
35,301,757 (GRCm39) |
splice site |
probably benign |
|
|
R1618:Tnks
|
UTSW |
8 |
35,342,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Tnks
|
UTSW |
8 |
35,324,672 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1919:Tnks
|
UTSW |
8 |
35,342,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Tnks
|
UTSW |
8 |
35,305,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Tnks
|
UTSW |
8 |
35,318,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2198:Tnks
|
UTSW |
8 |
35,340,221 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2198:Tnks
|
UTSW |
8 |
35,315,803 (GRCm39) |
missense |
probably benign |
|
|
R2925:Tnks
|
UTSW |
8 |
35,432,815 (GRCm39) |
missense |
unknown |
|
|
R3828:Tnks
|
UTSW |
8 |
35,340,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Tnks
|
UTSW |
8 |
35,340,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3916:Tnks
|
UTSW |
8 |
35,320,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Tnks
|
UTSW |
8 |
35,320,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3930:Tnks
|
UTSW |
8 |
35,407,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Tnks
|
UTSW |
8 |
35,316,465 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4760:Tnks
|
UTSW |
8 |
35,318,937 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5091:Tnks
|
UTSW |
8 |
35,308,963 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5419:Tnks
|
UTSW |
8 |
35,432,720 (GRCm39) |
missense |
unknown |
|
|
R5558:Tnks
|
UTSW |
8 |
35,432,819 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5582:Tnks
|
UTSW |
8 |
35,408,015 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6035:Tnks
|
UTSW |
8 |
35,385,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6035:Tnks
|
UTSW |
8 |
35,385,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6495:Tnks
|
UTSW |
8 |
35,307,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6527:Tnks
|
UTSW |
8 |
35,340,247 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6991:Tnks
|
UTSW |
8 |
35,301,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7015:Tnks
|
UTSW |
8 |
35,305,701 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7038:Tnks
|
UTSW |
8 |
35,318,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7057:Tnks
|
UTSW |
8 |
35,307,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Tnks
|
UTSW |
8 |
35,316,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7250:Tnks
|
UTSW |
8 |
35,318,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7475:Tnks
|
UTSW |
8 |
35,298,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Tnks
|
UTSW |
8 |
35,328,694 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7818:Tnks
|
UTSW |
8 |
35,340,182 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7909:Tnks
|
UTSW |
8 |
35,407,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7970:Tnks
|
UTSW |
8 |
35,323,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8341:Tnks
|
UTSW |
8 |
35,340,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8343:Tnks
|
UTSW |
8 |
35,301,738 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8870:Tnks
|
UTSW |
8 |
35,314,433 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8936:Tnks
|
UTSW |
8 |
35,320,501 (GRCm39) |
nonsense |
probably null |
|
|
R9049:Tnks
|
UTSW |
8 |
35,308,932 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9080:Tnks
|
UTSW |
8 |
35,432,466 (GRCm39) |
small deletion |
probably benign |
|
|
R9182:Tnks
|
UTSW |
8 |
35,308,905 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9211:Tnks
|
UTSW |
8 |
35,316,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Tnks
|
UTSW |
8 |
35,340,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Tnks
|
UTSW |
8 |
35,306,089 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Tnks
|
UTSW |
8 |
35,432,299 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGGAAAAGTTCCTACGGCCAC -3'
(R):5'- AGGTTTGGGGCAGAGTCTCACATAG -3'
Sequencing Primer
(F):5'- AAAAGTTCCTACGGCCACTTTTC -3'
(R):5'- ctgacctcctgcctttacc -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation