Incidental Mutation 'R0265:Tnks'
| ID |
34854 |
| 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 |
038491-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0265 (G1)
|
| Quality Score |
166 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 34839970 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 1142
(R1142*)
|
| 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: R1142*
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: R1142*
| 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 |
probably benign
Transcript: ENSMUST00000209632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209904
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210870
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.6%
- 20x: 92.0%
|
| Validation Efficiency |
99% (83/84) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930452B06Rik |
T |
G |
14: 8,431,667 (GRCm38) |
Y655S |
probably damaging |
Het |
| 9330182L06Rik |
T |
C |
5: 9,434,681 (GRCm38) |
L486P |
probably damaging |
Het |
| Abca14 |
A |
G |
7: 120,223,627 (GRCm38) |
I321V |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 88,324,763 (GRCm38) |
D837G |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,640,076 (GRCm38) |
Y457* |
probably null |
Het |
| Alox5 |
T |
C |
6: 116,420,362 (GRCm38) |
Y287C |
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,480,524 (GRCm38) |
|
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,493,681 (GRCm38) |
K815E |
unknown |
Het |
| Atp11a |
A |
T |
8: 12,856,930 (GRCm38) |
|
probably benign |
Het |
| Atp6v0a1 |
A |
T |
11: 101,048,515 (GRCm38) |
D702V |
possibly damaging |
Het |
| Cacna1b |
T |
A |
2: 24,761,844 (GRCm38) |
N108Y |
probably damaging |
Het |
| Ccdc57 |
G |
C |
11: 120,921,811 (GRCm38) |
A39G |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 37,081,376 (GRCm38) |
V581D |
probably benign |
Het |
| Cyp2b23 |
A |
G |
7: 26,672,879 (GRCm38) |
|
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 104,167,950 (GRCm38) |
P1836R |
probably damaging |
Het |
| Ddit4l |
C |
T |
3: 137,624,287 (GRCm38) |
|
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,690,271 (GRCm38) |
I1024F |
probably benign |
Het |
| Edc3 |
T |
A |
9: 57,727,338 (GRCm38) |
F213I |
probably damaging |
Het |
| Edrf1 |
G |
A |
7: 133,657,045 (GRCm38) |
D717N |
probably damaging |
Het |
| Efna5 |
G |
A |
17: 62,651,073 (GRCm38) |
P63S |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,558,481 (GRCm38) |
Y248C |
probably damaging |
Het |
| Flcn |
G |
A |
11: 59,795,809 (GRCm38) |
Q373* |
probably null |
Het |
| Fry |
T |
C |
5: 150,434,776 (GRCm38) |
V1908A |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 57,381,617 (GRCm38) |
Y58* |
probably null |
Het |
| Gabrp |
A |
T |
11: 33,552,614 (GRCm38) |
Y417N |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,304,952 (GRCm38) |
|
probably null |
Het |
| Grip2 |
C |
A |
6: 91,773,792 (GRCm38) |
|
probably null |
Het |
| Gsx2 |
A |
G |
5: 75,077,068 (GRCm38) |
Y227C |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 17,035,868 (GRCm38) |
*665W |
probably null |
Het |
| Hist1h2aa |
T |
C |
13: 23,934,649 (GRCm38) |
V63A |
probably benign |
Het |
| Hsd3b1 |
C |
A |
3: 98,852,773 (GRCm38) |
V301L |
probably damaging |
Het |
| Ifitm5 |
T |
C |
7: 140,950,008 (GRCm38) |
|
probably benign |
Het |
| Inpp4a |
A |
T |
1: 37,378,986 (GRCm38) |
D498V |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 114,992,459 (GRCm38) |
D554E |
probably benign |
Het |
| Itk |
G |
A |
11: 46,389,458 (GRCm38) |
|
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,795,663 (GRCm38) |
|
probably benign |
Het |
| Klhl6 |
A |
G |
16: 19,948,234 (GRCm38) |
V470A |
probably benign |
Het |
| Lamb3 |
T |
A |
1: 193,320,531 (GRCm38) |
W95R |
probably damaging |
Het |
| Lbhd2 |
T |
A |
12: 111,410,242 (GRCm38) |
I41N |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,490,670 (GRCm38) |
S1014C |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,785,969 (GRCm38) |
|
probably null |
Het |
| Map3k19 |
A |
G |
1: 127,822,182 (GRCm38) |
I1144T |
possibly damaging |
Het |
| Mfsd10 |
T |
C |
5: 34,635,163 (GRCm38) |
|
probably benign |
Het |
| Mocos |
A |
G |
18: 24,666,276 (GRCm38) |
D189G |
probably benign |
Het |
| Mvb12a |
T |
A |
8: 71,547,010 (GRCm38) |
F224L |
probably damaging |
Het |
| Myo15 |
A |
T |
11: 60,514,897 (GRCm38) |
|
probably null |
Het |
| Nos2 |
A |
T |
11: 78,937,602 (GRCm38) |
H249L |
probably damaging |
Het |
| Notum |
A |
G |
11: 120,658,334 (GRCm38) |
M184T |
probably benign |
Het |
| Nvl |
C |
A |
1: 181,134,830 (GRCm38) |
D192Y |
probably damaging |
Het |
| Olfr1024 |
T |
A |
2: 85,904,247 (GRCm38) |
N269I |
probably benign |
Het |
| Olfr1065 |
C |
A |
2: 86,445,959 (GRCm38) |
V8L |
probably benign |
Het |
| Olfr1308 |
T |
C |
2: 111,960,494 (GRCm38) |
Y193C |
probably damaging |
Het |
| Olfr204 |
A |
T |
16: 59,315,071 (GRCm38) |
F112Y |
probably damaging |
Het |
| Olfr218 |
A |
G |
1: 173,203,917 (GRCm38) |
K187R |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 119,445,657 (GRCm38) |
I397V |
possibly damaging |
Het |
| Otulin |
A |
G |
15: 27,616,424 (GRCm38) |
V123A |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,348,259 (GRCm38) |
Y181C |
probably damaging |
Het |
| Pcdhgc5 |
A |
T |
18: 37,821,350 (GRCm38) |
D559V |
probably damaging |
Het |
| Phf2 |
T |
C |
13: 48,828,794 (GRCm38) |
N151S |
unknown |
Het |
| Plxnc1 |
C |
A |
10: 94,813,129 (GRCm38) |
G1263C |
probably benign |
Het |
| Rad51ap1 |
A |
G |
6: 126,924,197 (GRCm38) |
*338Q |
probably null |
Het |
| Raver1 |
A |
G |
9: 21,075,659 (GRCm38) |
S676P |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,688,577 (GRCm38) |
E196G |
possibly damaging |
Het |
| Rreb1 |
A |
T |
13: 37,916,155 (GRCm38) |
K187* |
probably null |
Het |
| Rxfp1 |
T |
C |
3: 79,667,654 (GRCm38) |
T217A |
probably benign |
Het |
| Rxra |
T |
C |
2: 27,752,430 (GRCm38) |
L305P |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,227,066 (GRCm38) |
|
probably benign |
Het |
| Skor2 |
A |
T |
18: 76,876,598 (GRCm38) |
E952D |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,169,970 (GRCm38) |
S343T |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 45,785,337 (GRCm38) |
|
probably benign |
Het |
| Supt7l |
C |
T |
5: 31,515,918 (GRCm38) |
V329I |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,941,495 (GRCm38) |
R311H |
probably benign |
Het |
| Tac1 |
T |
C |
6: 7,559,165 (GRCm38) |
|
probably benign |
Het |
| Tcn2 |
A |
T |
11: 3,922,044 (GRCm38) |
V361D |
probably damaging |
Het |
| Tm2d3 |
G |
A |
7: 65,697,834 (GRCm38) |
A170T |
possibly damaging |
Het |
| Ttll7 |
C |
A |
3: 146,944,160 (GRCm38) |
Y648* |
probably null |
Het |
| Umod |
G |
T |
7: 119,466,073 (GRCm38) |
Q578K |
probably benign |
Het |
| Upf2 |
G |
A |
2: 6,027,204 (GRCm38) |
|
probably benign |
Het |
| Vmn2r92 |
C |
T |
17: 18,167,957 (GRCm38) |
A408V |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,338,960 (GRCm38) |
I1013T |
probably benign |
Het |
| Wdr60 |
T |
C |
12: 116,257,406 (GRCm38) |
|
probably benign |
Het |
| Zfp704 |
C |
A |
3: 9,565,157 (GRCm38) |
R48L |
probably damaging |
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 |
|
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 |
|
R8870:Tnks
|
UTSW |
8 |
34,847,279 (GRCm38) |
critical splice donor site |
probably null |
|
|
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'- GCTGTTGAGGGTCCAAATCTGAGG -3'
(R):5'- TCAGACTCACCAGGGAAACAGATGG -3'
Sequencing Primer
(F):5'- AGCGGCCTTTATGAGACCTTC -3'
(R):5'- TGGAAGAACTATCTAGAGACCGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation