Incidental Mutation 'R6035:Tnks'
ID |
486511 |
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 |
044207-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6035 (G1)
|
Quality Score |
174.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
35296333-35432844 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 35385615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 297
(H297Q)
|
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 |
possibly damaging
Transcript: ENSMUST00000033929
AA Change: H297Q
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000033929 Gene: ENSMUSG00000031529 AA Change: H297Q
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: ENSMUST00000211065
|
Meta Mutation Damage Score |
0.2037 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
84% (62/74) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
G |
T |
6: 121,615,353 (GRCm39) |
G76W |
probably damaging |
Het |
Abca17 |
A |
T |
17: 24,500,219 (GRCm39) |
F1324Y |
possibly damaging |
Het |
Abca8b |
A |
T |
11: 109,862,686 (GRCm39) |
|
probably null |
Het |
Abcc12 |
A |
G |
8: 87,244,033 (GRCm39) |
M1040T |
probably damaging |
Het |
Abtb1 |
A |
G |
6: 88,818,788 (GRCm39) |
F7L |
probably damaging |
Het |
Adcy9 |
T |
C |
16: 4,122,377 (GRCm39) |
T558A |
probably benign |
Het |
Adgrb1 |
A |
T |
15: 74,412,292 (GRCm39) |
T424S |
possibly damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ankrd31 |
C |
A |
13: 96,968,721 (GRCm39) |
P786Q |
probably benign |
Het |
Arhgap39 |
G |
T |
15: 76,621,424 (GRCm39) |
Y392* |
probably null |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Carmil2 |
G |
T |
8: 106,419,195 (GRCm39) |
W749L |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,587,564 (GRCm39) |
Y867H |
unknown |
Het |
Cdh13 |
A |
G |
8: 119,232,437 (GRCm39) |
D47G |
probably benign |
Het |
Chst9 |
T |
A |
18: 15,585,910 (GRCm39) |
T218S |
probably benign |
Het |
Clec2i |
G |
A |
6: 128,870,587 (GRCm39) |
V67I |
probably benign |
Het |
Cox7a2 |
T |
A |
9: 79,667,028 (GRCm39) |
|
probably benign |
Het |
Cplx3 |
A |
G |
9: 57,519,030 (GRCm39) |
|
probably null |
Het |
Cpz |
A |
G |
5: 35,674,929 (GRCm39) |
C107R |
probably damaging |
Het |
Dapk1 |
T |
A |
13: 60,909,013 (GRCm39) |
C1209S |
possibly damaging |
Het |
Ddx41 |
T |
C |
13: 55,681,781 (GRCm39) |
M307V |
probably benign |
Het |
Defa24 |
A |
G |
8: 22,224,565 (GRCm39) |
I5V |
probably benign |
Het |
Dgcr8 |
A |
T |
16: 18,076,178 (GRCm39) |
N2K |
probably damaging |
Het |
Ebf2 |
A |
G |
14: 67,476,423 (GRCm39) |
D131G |
probably damaging |
Het |
Fam149b |
C |
T |
14: 20,427,985 (GRCm39) |
R424C |
probably damaging |
Het |
Fbln2 |
G |
A |
6: 91,240,335 (GRCm39) |
V714M |
probably damaging |
Het |
Fgf5 |
T |
C |
5: 98,423,385 (GRCm39) |
Y257H |
probably damaging |
Het |
Fmo3 |
A |
C |
1: 162,791,605 (GRCm39) |
V224G |
probably damaging |
Het |
Gigyf2 |
T |
C |
1: 87,338,450 (GRCm39) |
I394T |
possibly damaging |
Het |
Glmn |
T |
A |
5: 107,741,746 (GRCm39) |
|
probably null |
Het |
Greb1l |
T |
C |
18: 10,501,025 (GRCm39) |
I385T |
possibly damaging |
Het |
Grhl1 |
C |
A |
12: 24,658,449 (GRCm39) |
Q365K |
probably benign |
Het |
Gsdme |
G |
A |
6: 50,206,306 (GRCm39) |
T179M |
probably damaging |
Het |
Gtf2a1l |
A |
G |
17: 89,018,962 (GRCm39) |
T349A |
probably benign |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Il5ra |
G |
A |
6: 106,718,226 (GRCm39) |
T76I |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,196,525 (GRCm39) |
T631A |
probably benign |
Het |
Kcnh6 |
G |
A |
11: 105,909,978 (GRCm39) |
|
probably null |
Het |
Krt26 |
C |
T |
11: 99,224,415 (GRCm39) |
E368K |
probably benign |
Het |
Lhx9 |
T |
C |
1: 138,766,281 (GRCm39) |
D169G |
possibly damaging |
Het |
Lmod3 |
A |
G |
6: 97,224,234 (GRCm39) |
L529P |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,173,577 (GRCm39) |
T891A |
probably benign |
Het |
Or11g24 |
A |
G |
14: 50,661,984 (GRCm39) |
T3A |
probably benign |
Het |
Or1e1 |
T |
C |
11: 73,244,582 (GRCm39) |
M1T |
probably null |
Het |
Or1j13 |
T |
A |
2: 36,369,996 (GRCm39) |
I49F |
probably damaging |
Het |
Or1p4-ps1 |
T |
C |
11: 74,208,285 (GRCm39) |
*145R |
probably null |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Papln |
G |
C |
12: 83,821,454 (GRCm39) |
G262A |
probably damaging |
Het |
Pdcd1lg2 |
G |
A |
19: 29,423,435 (GRCm39) |
V160I |
probably benign |
Het |
Pde8b |
A |
G |
13: 95,164,105 (GRCm39) |
|
probably benign |
Het |
Ppme1 |
G |
A |
7: 100,004,002 (GRCm39) |
R68* |
probably null |
Het |
Prob1 |
T |
C |
18: 35,787,835 (GRCm39) |
S140G |
probably benign |
Het |
Ptprn2 |
A |
T |
12: 117,219,215 (GRCm39) |
N949Y |
probably damaging |
Het |
Qser1 |
C |
A |
2: 104,617,468 (GRCm39) |
D1115Y |
probably damaging |
Het |
Rad54l |
G |
T |
4: 115,954,666 (GRCm39) |
D674E |
probably damaging |
Het |
Ripk4 |
T |
A |
16: 97,545,387 (GRCm39) |
D420V |
probably damaging |
Het |
Ros1 |
G |
T |
10: 51,954,067 (GRCm39) |
S1857R |
probably benign |
Het |
Rsf1 |
A |
G |
7: 97,311,316 (GRCm39) |
E682G |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Samd4 |
G |
A |
14: 47,325,329 (GRCm39) |
R515H |
probably damaging |
Het |
Selp |
T |
A |
1: 163,969,079 (GRCm39) |
W560R |
probably benign |
Het |
Shc3 |
A |
T |
13: 51,615,468 (GRCm39) |
L163Q |
probably damaging |
Het |
Shh |
G |
A |
5: 28,666,397 (GRCm39) |
A163V |
probably damaging |
Het |
Slc17a8 |
T |
C |
10: 89,427,937 (GRCm39) |
R113G |
possibly damaging |
Het |
Slc5a6 |
C |
A |
5: 31,206,168 (GRCm39) |
|
probably benign |
Het |
Smarcd2 |
A |
G |
11: 106,157,715 (GRCm39) |
|
probably null |
Het |
Sytl3 |
A |
G |
17: 6,995,664 (GRCm39) |
D148G |
probably damaging |
Het |
Trbv21 |
A |
T |
6: 41,179,568 (GRCm39) |
|
probably benign |
Het |
Ube3c |
T |
C |
5: 29,806,161 (GRCm39) |
F268L |
probably benign |
Het |
Ugt2b5 |
T |
C |
5: 87,287,541 (GRCm39) |
I209V |
probably benign |
Het |
Usp1 |
A |
G |
4: 98,818,082 (GRCm39) |
N140S |
probably damaging |
Het |
Vcam1 |
T |
C |
3: 115,919,606 (GRCm39) |
Y226C |
probably damaging |
Het |
Vmn1r129 |
T |
A |
7: 21,094,534 (GRCm39) |
Q228L |
probably damaging |
Het |
Vmn1r209 |
T |
A |
13: 22,990,202 (GRCm39) |
N163Y |
probably benign |
Het |
Vmn1r85 |
A |
G |
7: 12,818,854 (GRCm39) |
S97P |
probably damaging |
Het |
Vmn2r30 |
C |
T |
7: 7,337,350 (GRCm39) |
M95I |
probably benign |
Het |
Vmn2r74 |
G |
A |
7: 85,601,098 (GRCm39) |
R847C |
probably damaging |
Het |
Wdr70 |
G |
A |
15: 7,916,830 (GRCm39) |
T529I |
possibly damaging |
Het |
Zfp532 |
T |
G |
18: 65,757,005 (GRCm39) |
S313A |
possibly damaging |
Het |
Zhx3 |
A |
T |
2: 160,621,463 (GRCm39) |
N901K |
probably benign |
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 |
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'- GCTGTAATTCTCAGTGCTATAAGC -3'
(R):5'- GAAGATCCTTTGCTGCAGTG -3'
Sequencing Primer
(F):5'- CAACACAATTAATAAGATGCACATCC -3'
(R):5'- AAGATCCTTTGCTGCAGTGCTTTTG -3'
|
Posted On |
2017-08-16 |