Incidental Mutation 'R9080:Tnks'
| ID |
689962 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9080 (G1)
|
| Quality Score |
105.467 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
35296333-35432844 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CCCGCCGCCGCCGCCGCCGCCG to CCCGCCGCCGCCGCCGCCG
at 35432466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000033929
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
T |
C |
6: 52,155,973 (GRCm39) |
I13T |
unknown |
Het |
| Adad1 |
G |
T |
3: 37,119,398 (GRCm39) |
V160L |
probably benign |
Het |
| Adamts6 |
T |
A |
13: 104,449,427 (GRCm39) |
M279K |
probably damaging |
Het |
| Adgra2 |
T |
C |
8: 27,604,529 (GRCm39) |
S535P |
probably benign |
Het |
| Akr1c13 |
C |
T |
13: 4,241,172 (GRCm39) |
|
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,464,426 (GRCm39) |
I1690T |
possibly damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,397,884 (GRCm39) |
M575V |
probably damaging |
Het |
| Cfap100 |
T |
C |
6: 90,383,183 (GRCm39) |
N330S |
unknown |
Het |
| Col12a1 |
T |
C |
9: 79,517,133 (GRCm39) |
D2849G |
probably benign |
Het |
| Cox11 |
G |
A |
11: 90,535,246 (GRCm39) |
M232I |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cspp1 |
G |
A |
1: 10,183,919 (GRCm39) |
S848N |
probably benign |
Het |
| Cxcr5 |
A |
G |
9: 44,424,563 (GRCm39) |
S365P |
probably damaging |
Het |
| Dclre1c |
A |
T |
2: 3,458,589 (GRCm39) |
M389L |
probably benign |
Het |
| Dlc1 |
T |
C |
8: 37,052,006 (GRCm39) |
D124G |
probably benign |
Het |
| Dtx3 |
A |
T |
10: 127,027,137 (GRCm39) |
S346T |
possibly damaging |
Het |
| Exosc10 |
A |
G |
4: 148,649,121 (GRCm39) |
D337G |
probably damaging |
Het |
| Fpr1 |
G |
A |
17: 18,097,212 (GRCm39) |
A259V |
probably benign |
Het |
| Gm11232 |
A |
T |
4: 71,676,070 (GRCm39) |
M25K |
probably benign |
Het |
| Gm4950 |
A |
G |
18: 51,998,922 (GRCm39) |
V11A |
possibly damaging |
Het |
| Gsap |
C |
T |
5: 21,399,410 (GRCm39) |
T37I |
possibly damaging |
Het |
| Igfbp2 |
T |
A |
1: 72,891,157 (GRCm39) |
C252S |
probably damaging |
Het |
| Ing2 |
T |
C |
8: 48,121,808 (GRCm39) |
T247A |
possibly damaging |
Het |
| Ints1 |
C |
T |
5: 139,739,300 (GRCm39) |
V2028M |
probably benign |
Het |
| Itfg1 |
A |
G |
8: 86,466,874 (GRCm39) |
F400L |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,673,633 (GRCm39) |
Y889C |
probably benign |
Het |
| Kcnh3 |
A |
G |
15: 99,139,667 (GRCm39) |
E882G |
probably damaging |
Het |
| Limch1 |
T |
A |
5: 67,174,992 (GRCm39) |
C515S |
probably benign |
Het |
| Lrrc74a |
G |
T |
12: 86,795,908 (GRCm39) |
V294F |
possibly damaging |
Het |
| Megf8 |
A |
G |
7: 25,041,131 (GRCm39) |
E1120G |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,912,516 (GRCm39) |
Y1090* |
probably null |
Het |
| Nckap1 |
A |
G |
2: 80,350,726 (GRCm39) |
Y794H |
probably damaging |
Het |
| Nfib |
T |
C |
4: 82,623,754 (GRCm39) |
M25V |
|
Het |
| Ogfod2 |
A |
G |
5: 124,253,007 (GRCm39) |
E339G |
probably damaging |
Het |
| Olah |
T |
A |
2: 3,349,389 (GRCm39) |
E64V |
probably damaging |
Het |
| Or2a14 |
T |
A |
6: 43,130,830 (GRCm39) |
V197D |
possibly damaging |
Het |
| Or9a4 |
T |
A |
6: 40,548,563 (GRCm39) |
L81H |
probably damaging |
Het |
| Pdcd6ip |
T |
A |
9: 113,520,624 (GRCm39) |
K120M |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,655,476 (GRCm39) |
I134V |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,359,039 (GRCm39) |
H576R |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,637,494 (GRCm39) |
H127Q |
probably damaging |
Het |
| Rmnd5b |
C |
T |
11: 51,515,055 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Sec16b |
C |
A |
1: 157,393,300 (GRCm39) |
Q995K |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,855,107 (GRCm39) |
S260R |
probably benign |
Het |
| Slc47a1 |
C |
T |
11: 61,264,219 (GRCm39) |
G67S |
possibly damaging |
Het |
| Slco6d1 |
T |
C |
1: 98,348,983 (GRCm39) |
V18A |
probably benign |
Het |
| Tfcp2 |
GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA |
GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA |
15: 100,395,968 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
G |
17: 3,464,519 (GRCm39) |
C83G |
probably benign |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,253,843 (GRCm39) |
G743R |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,536,843 (GRCm39) |
T34994I |
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,377,720 (GRCm39) |
D370V |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,295,017 (GRCm39) |
E536D |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,612,308 (GRCm39) |
E836G |
probably damaging |
Het |
| Vmn1r41 |
C |
T |
6: 89,724,138 (GRCm39) |
T63M |
unknown |
Het |
| Vmn2r72 |
A |
C |
7: 85,387,464 (GRCm39) |
I700S |
probably damaging |
Het |
| Xrcc4 |
T |
C |
13: 90,149,097 (GRCm39) |
N141S |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,844,155 (GRCm39) |
V6A |
unknown |
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 |
|
|
R0334:Tnks
|
UTSW |
8 |
35,320,413 (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 |
|
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'- ATGTCCTTGGCATTCACGTTCG -3'
(R):5'- GTCCAGAATCCGGAAGTGAG -3'
Sequencing Primer
(F):5'- ATTCCGACAGGCCTCGAG -3'
(R):5'- TTGCCGCAGTGACAGTAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation