Incidental Mutation 'R8870:Tnks'
| ID |
676210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnks
|
| Ensembl Gene |
ENSMUSG00000031529 |
| Gene Name |
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase |
| Synonyms |
mTNKS1, 4930554K12Rik, D130072O21Rik, TANK1, tankyrase 1 |
| MMRRC Submission |
068684-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8870 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 34847279 bp (GRCm38)
|
| 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 null
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 |
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (76/76) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,323,721 (GRCm38) |
N1082Y |
possibly damaging |
Het |
| 3110002H16Rik |
A |
G |
18: 12,188,561 (GRCm38) |
E473G |
probably benign |
Het |
| 4930444P10Rik |
G |
A |
1: 16,066,227 (GRCm38) |
Q122* |
probably null |
Het |
| Ak8 |
C |
T |
2: 28,735,590 (GRCm38) |
T215M |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,783,729 (GRCm38) |
I210F |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,387,034 (GRCm38) |
F656L |
probably damaging |
Het |
| Bscl2 |
T |
C |
19: 8,847,429 (GRCm38) |
M292T |
probably benign |
Het |
| Cachd1 |
G |
T |
4: 100,897,781 (GRCm38) |
C143F |
probably damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 96,099,982 (GRCm38) |
|
probably benign |
Het |
| Ccnb1ip1 |
C |
T |
14: 50,791,993 (GRCm38) |
G204E |
probably benign |
Het |
| Ccr1 |
T |
A |
9: 123,963,985 (GRCm38) |
L169F |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,314,520 (GRCm38) |
N593D |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,945,323 (GRCm38) |
S265P |
probably damaging |
Het |
| Cenpk |
A |
G |
13: 104,230,857 (GRCm38) |
E67G |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,640,120 (GRCm38) |
I36K |
probably benign |
Het |
| Clock |
A |
T |
5: 76,235,785 (GRCm38) |
I507N |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 156,078,953 (GRCm38) |
T110A |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 134,091,214 (GRCm38) |
E1427V |
possibly damaging |
Het |
| Ctu1 |
A |
C |
7: 43,675,322 (GRCm38) |
K62Q |
probably damaging |
Het |
| Drd5 |
C |
A |
5: 38,320,404 (GRCm38) |
Q247K |
possibly damaging |
Het |
| Ect2l |
A |
T |
10: 18,138,860 (GRCm38) |
L808* |
probably null |
Het |
| Ficd |
A |
T |
5: 113,738,187 (GRCm38) |
D141V |
probably damaging |
Het |
| Fnbp1 |
A |
G |
2: 31,048,210 (GRCm38) |
Y148H |
|
Het |
| Gm11639 |
A |
G |
11: 104,900,674 (GRCm38) |
T2905A |
probably benign |
Het |
| Gm14409 |
T |
A |
2: 177,265,519 (GRCm38) |
Q62L |
probably benign |
Het |
| Gm49368 |
A |
G |
7: 128,101,513 (GRCm38) |
K485R |
probably benign |
Het |
| Gpr75 |
C |
A |
11: 30,891,860 (GRCm38) |
A255D |
probably benign |
Het |
| Hcrtr2 |
G |
T |
9: 76,246,384 (GRCm38) |
A242D |
probably damaging |
Het |
| Iapp |
G |
T |
6: 142,298,876 (GRCm38) |
V10F |
probably benign |
Het |
| Ikzf2 |
A |
G |
1: 69,683,258 (GRCm38) |
S31P |
possibly damaging |
Het |
| Il18rap |
G |
A |
1: 40,525,120 (GRCm38) |
|
probably benign |
Het |
| Irak2 |
A |
T |
6: 113,686,941 (GRCm38) |
N423Y |
probably damaging |
Het |
| Itpkb |
A |
G |
1: 180,332,179 (GRCm38) |
|
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,388,211 (GRCm38) |
I874M |
probably damaging |
Het |
| Kif26b |
G |
T |
1: 178,865,029 (GRCm38) |
V512F |
probably damaging |
Het |
| Lhx6 |
G |
A |
2: 36,105,220 (GRCm38) |
|
probably benign |
Het |
| Lrfn1 |
A |
G |
7: 28,459,493 (GRCm38) |
E279G |
possibly damaging |
Het |
| Masp1 |
A |
C |
16: 23,496,132 (GRCm38) |
D126E |
probably damaging |
Het |
| Mef2a |
T |
C |
7: 67,240,428 (GRCm38) |
I299V |
probably benign |
Het |
| Midn |
A |
G |
10: 80,150,105 (GRCm38) |
S10G |
probably damaging |
Het |
| Mrps12 |
A |
T |
7: 28,739,936 (GRCm38) |
L118Q |
probably damaging |
Het |
| Mxi1 |
G |
A |
19: 53,371,695 (GRCm38) |
G283S |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 13,052,909 (GRCm38) |
V78A |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,421,158 (GRCm38) |
V452A |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,161,469 (GRCm38) |
Y6600H |
probably damaging |
Het |
| Nlgn2 |
A |
G |
11: 69,825,471 (GRCm38) |
L748P |
possibly damaging |
Het |
| Nnmt |
A |
T |
9: 48,603,501 (GRCm38) |
L72H |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 90,204,786 (GRCm38) |
T964A |
probably benign |
Het |
| Olfr1277 |
T |
A |
2: 111,270,119 (GRCm38) |
I83F |
possibly damaging |
Het |
| Olfr1388 |
T |
A |
11: 49,444,523 (GRCm38) |
V224E |
probably damaging |
Het |
| Olfr197 |
G |
A |
16: 59,185,767 (GRCm38) |
P239S |
unknown |
Het |
| Olfr251 |
A |
G |
9: 38,378,424 (GRCm38) |
N175S |
probably benign |
Het |
| Olfr360 |
A |
G |
2: 37,068,970 (GRCm38) |
I222V |
probably benign |
Het |
| Olfr395 |
T |
G |
11: 73,906,899 (GRCm38) |
M198L |
probably benign |
Het |
| Olfr952 |
A |
G |
9: 39,426,252 (GRCm38) |
V273A |
probably damaging |
Het |
| Osbpl11 |
A |
G |
16: 33,214,480 (GRCm38) |
N280D |
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,754,825 (GRCm38) |
Y202F |
probably damaging |
Het |
| Pick1 |
A |
G |
15: 79,255,907 (GRCm38) |
R469G |
unknown |
Het |
| Rev3l |
A |
G |
10: 39,862,790 (GRCm38) |
I2847V |
probably damaging |
Het |
| Rnaseh2b |
T |
A |
14: 62,332,168 (GRCm38) |
L18Q |
probably damaging |
Het |
| Rpl19 |
A |
G |
11: 98,029,789 (GRCm38) |
Y122C |
probably benign |
Het |
| Selp |
A |
G |
1: 164,137,218 (GRCm38) |
Y483C |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,594,253 (GRCm38) |
F347L |
|
Het |
| Snx14 |
A |
G |
9: 88,413,488 (GRCm38) |
I208T |
probably benign |
Het |
| Spag16 |
T |
A |
1: 69,996,858 (GRCm38) |
F348L |
probably benign |
Het |
| Spata22 |
A |
T |
11: 73,340,265 (GRCm38) |
N115I |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 64,921,004 (GRCm38) |
V322A |
probably benign |
Het |
| Spata5 |
A |
G |
3: 37,448,512 (GRCm38) |
N607D |
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,038,376 (GRCm38) |
H206L |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,951,559 (GRCm38) |
D153G |
probably damaging |
Het |
| Tmem196 |
T |
A |
12: 120,018,533 (GRCm38) |
N167K |
possibly damaging |
Het |
| Tmpo |
T |
C |
10: 91,151,719 (GRCm38) |
T356A |
probably damaging |
Het |
| Ttbk1 |
A |
C |
17: 46,470,735 (GRCm38) |
L364R |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,835,055 (GRCm38) |
N224K |
probably damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,716,736 (GRCm38) |
M52L |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,305,058 (GRCm38) |
H326L |
possibly damaging |
Het |
| Wdr78 |
C |
T |
4: 103,087,332 (GRCm38) |
|
probably null |
Het |
| Wrn |
A |
T |
8: 33,329,192 (GRCm38) |
M244K |
probably benign |
Het |
| Zcchc24 |
C |
T |
14: 25,757,154 (GRCm38) |
A102T |
probably benign |
Het |
|
| Other mutations in Tnks |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Tnks
|
APN |
8 |
34,861,689 (GRCm38) |
splice site |
probably benign |
|
|
IGL00901:Tnks
|
APN |
8 |
34,838,395 (GRCm38) |
nonsense |
probably null |
|
|
IGL01448:Tnks
|
APN |
8 |
34,839,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01455:Tnks
|
APN |
8 |
34,940,900 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01962:Tnks
|
APN |
8 |
34,869,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02088:Tnks
|
APN |
8 |
34,839,994 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL02260:Tnks
|
APN |
8 |
34,842,983 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02454:Tnks
|
APN |
8 |
34,831,728 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02486:Tnks
|
APN |
8 |
34,851,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02612:Tnks
|
APN |
8 |
34,849,299 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL03179:Tnks
|
APN |
8 |
34,848,670 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL03404:Tnks
|
APN |
8 |
34,940,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0256:Tnks
|
UTSW |
8 |
34,861,547 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0265:Tnks
|
UTSW |
8 |
34,839,970 (GRCm38) |
nonsense |
probably null |
|
|
R0334:Tnks
|
UTSW |
8 |
34,853,259 (GRCm38) |
nonsense |
probably null |
|
|
R0414:Tnks
|
UTSW |
8 |
34,853,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0526:Tnks
|
UTSW |
8 |
34,853,303 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0622:Tnks
|
UTSW |
8 |
34,940,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1445:Tnks
|
UTSW |
8 |
34,834,603 (GRCm38) |
splice site |
probably benign |
|
|
R1618:Tnks
|
UTSW |
8 |
34,875,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1779:Tnks
|
UTSW |
8 |
34,857,518 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1919:Tnks
|
UTSW |
8 |
34,875,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1938:Tnks
|
UTSW |
8 |
34,838,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2018:Tnks
|
UTSW |
8 |
34,851,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2198:Tnks
|
UTSW |
8 |
34,873,067 (GRCm38) |
missense |
probably benign |
0.29 |
|
R2198:Tnks
|
UTSW |
8 |
34,848,649 (GRCm38) |
missense |
probably benign |
|
|
R2925:Tnks
|
UTSW |
8 |
34,965,661 (GRCm38) |
missense |
unknown |
|
|
R3828:Tnks
|
UTSW |
8 |
34,873,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3913:Tnks
|
UTSW |
8 |
34,873,074 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3916:Tnks
|
UTSW |
8 |
34,853,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3917:Tnks
|
UTSW |
8 |
34,853,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3930:Tnks
|
UTSW |
8 |
34,940,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4659:Tnks
|
UTSW |
8 |
34,849,311 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R4760:Tnks
|
UTSW |
8 |
34,851,783 (GRCm38) |
missense |
probably benign |
0.38 |
|
R5091:Tnks
|
UTSW |
8 |
34,841,809 (GRCm38) |
missense |
probably benign |
0.40 |
|
R5419:Tnks
|
UTSW |
8 |
34,965,566 (GRCm38) |
missense |
unknown |
|
|
R5558:Tnks
|
UTSW |
8 |
34,965,665 (GRCm38) |
start codon destroyed |
probably null |
|
|
R5582:Tnks
|
UTSW |
8 |
34,940,861 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6035:Tnks
|
UTSW |
8 |
34,918,461 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6035:Tnks
|
UTSW |
8 |
34,918,461 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6495:Tnks
|
UTSW |
8 |
34,839,966 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6527:Tnks
|
UTSW |
8 |
34,873,093 (GRCm38) |
missense |
probably benign |
0.36 |
|
R6991:Tnks
|
UTSW |
8 |
34,834,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7015:Tnks
|
UTSW |
8 |
34,838,547 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7038:Tnks
|
UTSW |
8 |
34,851,636 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7057:Tnks
|
UTSW |
8 |
34,840,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7167:Tnks
|
UTSW |
8 |
34,849,304 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7250:Tnks
|
UTSW |
8 |
34,851,758 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7475:Tnks
|
UTSW |
8 |
34,831,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7790:Tnks
|
UTSW |
8 |
34,861,540 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7818:Tnks
|
UTSW |
8 |
34,873,028 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7909:Tnks
|
UTSW |
8 |
34,940,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7970:Tnks
|
UTSW |
8 |
34,855,926 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8341:Tnks
|
UTSW |
8 |
34,873,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8343:Tnks
|
UTSW |
8 |
34,834,584 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8936:Tnks
|
UTSW |
8 |
34,853,347 (GRCm38) |
nonsense |
probably null |
|
|
R9049:Tnks
|
UTSW |
8 |
34,841,778 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9080:Tnks
|
UTSW |
8 |
34,965,312 (GRCm38) |
small deletion |
probably benign |
|
|
R9182:Tnks
|
UTSW |
8 |
34,841,751 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9211:Tnks
|
UTSW |
8 |
34,849,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9425:Tnks
|
UTSW |
8 |
34,873,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9649:Tnks
|
UTSW |
8 |
34,838,935 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Tnks
|
UTSW |
8 |
34,965,145 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGGCAGCTAACAAGCAAGG -3'
(R):5'- AGCATAACTTGGAAGTGCCTG -3'
Sequencing Primer
(F):5'- GCAGCTAACAAGCAAGGTAAAAAC -3'
(R):5'- TCATCTGTACAGGCAAGTGTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation