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, TANK1, tankyrase 1, 4930554K12Rik, D130072O21Rik |
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 |
35296333-35432844 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 35307124 bp (GRCm39)
|
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 |
Abca14 |
A |
G |
7: 119,822,850 (GRCm39) |
I321V |
probably benign |
Het |
Adcy7 |
A |
G |
8: 89,051,391 (GRCm39) |
D837G |
probably damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,617,440 (GRCm39) |
Y457* |
probably null |
Het |
Alox5 |
T |
C |
6: 116,397,323 (GRCm39) |
Y287C |
probably benign |
Het |
Ano8 |
T |
C |
8: 71,933,168 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,630,189 (GRCm39) |
K815E |
unknown |
Het |
Atp11a |
A |
T |
8: 12,906,930 (GRCm39) |
|
probably benign |
Het |
Atp6v0a1 |
A |
T |
11: 100,939,341 (GRCm39) |
D702V |
possibly damaging |
Het |
Cacna1b |
T |
A |
2: 24,651,856 (GRCm39) |
N108Y |
probably damaging |
Het |
Ccdc57 |
G |
C |
11: 120,812,637 (GRCm39) |
A39G |
probably benign |
Het |
Cdhr1 |
A |
T |
14: 36,803,333 (GRCm39) |
V581D |
probably benign |
Het |
Cfap20dc |
T |
G |
14: 8,431,667 (GRCm38) |
Y655S |
probably damaging |
Het |
Cyp2b23 |
A |
G |
7: 26,372,304 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
Ddit4l |
C |
T |
3: 137,330,048 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
A |
T |
17: 30,909,245 (GRCm39) |
I1024F |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,221,026 (GRCm39) |
|
probably benign |
Het |
Edc3 |
T |
A |
9: 57,634,621 (GRCm39) |
F213I |
probably damaging |
Het |
Edrf1 |
G |
A |
7: 133,258,774 (GRCm39) |
D717N |
probably damaging |
Het |
Efna5 |
G |
A |
17: 62,958,068 (GRCm39) |
P63S |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,484,681 (GRCm39) |
L486P |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,387,547 (GRCm39) |
Y248C |
probably damaging |
Het |
Flcn |
G |
A |
11: 59,686,635 (GRCm39) |
Q373* |
probably null |
Het |
Fry |
T |
C |
5: 150,358,241 (GRCm39) |
V1908A |
probably damaging |
Het |
Gabrg3 |
A |
T |
7: 57,031,365 (GRCm39) |
Y58* |
probably null |
Het |
Gabrp |
A |
T |
11: 33,502,614 (GRCm39) |
Y417N |
probably damaging |
Het |
Golga2 |
C |
A |
2: 32,194,964 (GRCm39) |
|
probably null |
Het |
Grip2 |
C |
A |
6: 91,750,773 (GRCm39) |
|
probably null |
Het |
Gsx2 |
A |
G |
5: 75,237,729 (GRCm39) |
Y227C |
probably damaging |
Het |
H2ac1 |
T |
C |
13: 24,118,632 (GRCm39) |
V63A |
probably benign |
Het |
Hif3a |
T |
C |
7: 16,769,793 (GRCm39) |
*665W |
probably null |
Het |
Hsd3b1 |
C |
A |
3: 98,760,089 (GRCm39) |
V301L |
probably damaging |
Het |
Ifitm5 |
T |
C |
7: 140,529,921 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
A |
T |
1: 37,418,067 (GRCm39) |
D498V |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,128,995 (GRCm39) |
D554E |
probably benign |
Het |
Itk |
G |
A |
11: 46,280,285 (GRCm39) |
|
probably benign |
Het |
Kdm3b |
T |
A |
18: 34,928,716 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
A |
G |
16: 19,766,984 (GRCm39) |
V470A |
probably benign |
Het |
Lamb3 |
T |
A |
1: 193,002,839 (GRCm39) |
W95R |
probably damaging |
Het |
Lbhd2 |
T |
A |
12: 111,376,676 (GRCm39) |
I41N |
probably damaging |
Het |
Lrp4 |
A |
T |
2: 91,321,015 (GRCm39) |
S1014C |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,832,743 (GRCm39) |
|
probably null |
Het |
Map3k19 |
A |
G |
1: 127,749,919 (GRCm39) |
I1144T |
possibly damaging |
Het |
Mfsd10 |
T |
C |
5: 34,792,507 (GRCm39) |
|
probably benign |
Het |
Mocos |
A |
G |
18: 24,799,333 (GRCm39) |
D189G |
probably benign |
Het |
Mvb12a |
T |
A |
8: 71,999,654 (GRCm39) |
F224L |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,405,723 (GRCm39) |
|
probably null |
Het |
Nos2 |
A |
T |
11: 78,828,428 (GRCm39) |
H249L |
probably damaging |
Het |
Notum |
A |
G |
11: 120,549,160 (GRCm39) |
M184T |
probably benign |
Het |
Nvl |
C |
A |
1: 180,962,395 (GRCm39) |
D192Y |
probably damaging |
Het |
Or10j3 |
A |
G |
1: 173,031,484 (GRCm39) |
K187R |
probably benign |
Het |
Or4f57 |
T |
C |
2: 111,790,839 (GRCm39) |
Y193C |
probably damaging |
Het |
Or5ac22 |
A |
T |
16: 59,135,434 (GRCm39) |
F112Y |
probably damaging |
Het |
Or5m12 |
T |
A |
2: 85,734,591 (GRCm39) |
N269I |
probably benign |
Het |
Or8k27 |
C |
A |
2: 86,276,303 (GRCm39) |
V8L |
probably benign |
Het |
Osgin1 |
A |
G |
8: 120,172,396 (GRCm39) |
I397V |
possibly damaging |
Het |
Otulin |
A |
G |
15: 27,616,510 (GRCm39) |
V123A |
probably damaging |
Het |
P4ha1 |
A |
G |
10: 59,184,081 (GRCm39) |
Y181C |
probably damaging |
Het |
Pcdhgc5 |
A |
T |
18: 37,954,403 (GRCm39) |
D559V |
probably damaging |
Het |
Phf2 |
T |
C |
13: 48,982,270 (GRCm39) |
N151S |
unknown |
Het |
Plxnc1 |
C |
A |
10: 94,648,991 (GRCm39) |
G1263C |
probably benign |
Het |
Rad51ap1 |
A |
G |
6: 126,901,160 (GRCm39) |
*338Q |
probably null |
Het |
Raver1 |
A |
G |
9: 20,986,955 (GRCm39) |
S676P |
probably benign |
Het |
Rfx8 |
T |
C |
1: 39,727,737 (GRCm39) |
E196G |
possibly damaging |
Het |
Rreb1 |
A |
T |
13: 38,100,131 (GRCm39) |
K187* |
probably null |
Het |
Rxfp1 |
T |
C |
3: 79,574,961 (GRCm39) |
T217A |
probably benign |
Het |
Rxra |
T |
C |
2: 27,642,442 (GRCm39) |
L305P |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,117,078 (GRCm39) |
|
probably benign |
Het |
Skor2 |
A |
T |
18: 76,964,293 (GRCm39) |
E952D |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,147,334 (GRCm39) |
S343T |
probably benign |
Het |
Sorbs2 |
T |
C |
8: 46,238,374 (GRCm39) |
|
probably benign |
Het |
Supt7l |
C |
T |
5: 31,673,262 (GRCm39) |
V329I |
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tac1 |
T |
C |
6: 7,559,165 (GRCm39) |
|
probably benign |
Het |
Tcn2 |
A |
T |
11: 3,872,044 (GRCm39) |
V361D |
probably damaging |
Het |
Tm2d3 |
G |
A |
7: 65,347,582 (GRCm39) |
A170T |
possibly damaging |
Het |
Ttll7 |
C |
A |
3: 146,649,915 (GRCm39) |
Y648* |
probably null |
Het |
Umod |
G |
T |
7: 119,065,296 (GRCm39) |
Q578K |
probably benign |
Het |
Upf2 |
G |
A |
2: 6,032,015 (GRCm39) |
|
probably benign |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,210,809 (GRCm39) |
I1013T |
probably benign |
Het |
Zfp704 |
C |
A |
3: 9,630,217 (GRCm39) |
R48L |
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 |
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 |
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'- GCTGTTGAGGGTCCAAATCTGAGG -3'
(R):5'- TCAGACTCACCAGGGAAACAGATGG -3'
Sequencing Primer
(F):5'- AGCGGCCTTTATGAGACCTTC -3'
(R):5'- TGGAAGAACTATCTAGAGACCGC -3'
|
Posted On |
2013-05-09 |