Incidental Mutation 'R3917:Tnks'
| ID |
307348 |
| 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 |
040914-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3917 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34853361 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 719
(S719P)
|
| 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 damaging
Transcript: ENSMUST00000033929
AA Change: S719P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: S719P
| 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: ENSMUST00000209904
|
| Meta Mutation Damage Score |
0.9011 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
97% (74/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
G |
5: 121,599,214 (GRCm38) |
V498A |
probably damaging |
Het |
| Adam19 |
A |
G |
11: 46,060,935 (GRCm38) |
E37G |
probably benign |
Het |
| Apol11b |
A |
G |
15: 77,635,304 (GRCm38) |
I192T |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,928,604 (GRCm38) |
F537Y |
probably damaging |
Het |
| Atad5 |
A |
C |
11: 80,103,294 (GRCm38) |
K785N |
probably null |
Het |
| Atp1b2 |
A |
G |
11: 69,603,075 (GRCm38) |
V93A |
probably damaging |
Het |
| Bcam |
T |
C |
7: 19,765,450 (GRCm38) |
Y216C |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,540,827 (GRCm38) |
E1352G |
probably damaging |
Het |
| C030005K15Rik |
A |
C |
10: 97,725,591 (GRCm38) |
S93A |
unknown |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Ccdc88c |
A |
G |
12: 100,941,107 (GRCm38) |
|
probably null |
Het |
| Ccdc89 |
A |
G |
7: 90,426,825 (GRCm38) |
D81G |
probably damaging |
Het |
| Ccnt1 |
A |
G |
15: 98,544,059 (GRCm38) |
S443P |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,712,500 (GRCm38) |
|
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 180,106,154 (GRCm38) |
|
probably null |
Het |
| Cdk11b |
T |
C |
4: 155,626,801 (GRCm38) |
S47P |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,897,750 (GRCm38) |
D142G |
probably benign |
Het |
| Cntnap4 |
C |
G |
8: 112,875,533 (GRCm38) |
P1190A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,508,611 (GRCm38) |
Y567* |
probably null |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,585,549 (GRCm38) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 99,016,685 (GRCm38) |
Y651C |
probably damaging |
Het |
| Fzd3 |
A |
T |
14: 65,235,930 (GRCm38) |
F130I |
probably damaging |
Het |
| Gabarapl2 |
T |
A |
8: 111,952,396 (GRCm38) |
F115L |
probably benign |
Het |
| Gm1043 |
G |
A |
5: 37,192,941 (GRCm38) |
|
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,915,933 (GRCm38) |
F144L |
probably benign |
Het |
| Gm14124 |
T |
A |
2: 150,266,119 (GRCm38) |
|
probably benign |
Het |
| Gm21961 |
A |
T |
15: 65,014,884 (GRCm38) |
D7E |
unknown |
Het |
| Gtf3a |
A |
G |
5: 146,955,434 (GRCm38) |
K332E |
probably benign |
Het |
| Haao |
A |
G |
17: 83,838,799 (GRCm38) |
|
probably null |
Het |
| Habp2 |
T |
A |
19: 56,311,179 (GRCm38) |
C170S |
probably damaging |
Het |
| Heatr3 |
T |
G |
8: 88,150,371 (GRCm38) |
|
probably null |
Het |
| Herc1 |
T |
G |
9: 66,434,466 (GRCm38) |
C1846G |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 120,099,427 (GRCm38) |
S1647P |
probably benign |
Het |
| Hnrnpul1 |
C |
T |
7: 25,726,875 (GRCm38) |
R517Q |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,559,314 (GRCm38) |
E3648G |
probably damaging |
Het |
| Jaml |
T |
C |
9: 45,101,151 (GRCm38) |
|
probably benign |
Het |
| Jund |
C |
T |
8: 70,699,023 (GRCm38) |
|
probably benign |
Het |
| Klra14-ps |
T |
C |
6: 130,157,632 (GRCm38) |
|
noncoding transcript |
Het |
| Krt88 |
G |
A |
15: 101,452,928 (GRCm38) |
|
probably null |
Het |
| Lrp5 |
G |
A |
19: 3,612,330 (GRCm38) |
R173C |
probably damaging |
Het |
| Lyzl4 |
T |
A |
9: 121,583,035 (GRCm38) |
D105V |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 108,084,295 (GRCm38) |
I575V |
probably benign |
Het |
| Myd88 |
T |
C |
9: 119,341,398 (GRCm38) |
|
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,666,578 (GRCm38) |
V512E |
probably damaging |
Het |
| Ndufv1 |
A |
G |
19: 4,010,002 (GRCm38) |
Y33H |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 72,667,811 (GRCm38) |
C608* |
probably null |
Het |
| Olfr118 |
T |
A |
17: 37,672,793 (GRCm38) |
F257I |
probably damaging |
Het |
| Olfr884 |
A |
T |
9: 38,047,545 (GRCm38) |
I108F |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,592,008 (GRCm38) |
K1317* |
probably null |
Het |
| Pld5 |
A |
G |
1: 175,963,938 (GRCm38) |
S501P |
probably benign |
Het |
| Pnpo |
A |
G |
11: 96,939,757 (GRCm38) |
V146A |
probably damaging |
Het |
| Ppdpf |
A |
G |
2: 181,187,728 (GRCm38) |
Y16C |
probably benign |
Het |
| Ppp1r27 |
A |
G |
11: 120,550,959 (GRCm38) |
V32A |
possibly damaging |
Het |
| Rbm28 |
T |
C |
6: 29,154,789 (GRCm38) |
D294G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,051,244 (GRCm38) |
D817E |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,503,384 (GRCm38) |
D252G |
possibly damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,588,973 (GRCm38) |
|
probably null |
Het |
| Slc35a5 |
G |
C |
16: 45,158,158 (GRCm38) |
|
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,911,869 (GRCm38) |
S50P |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 83,016,993 (GRCm38) |
Y241* |
probably null |
Het |
| Slu7 |
G |
T |
11: 43,440,684 (GRCm38) |
|
probably null |
Het |
| Smad2 |
T |
A |
18: 76,287,937 (GRCm38) |
D82E |
probably benign |
Het |
| Spx |
A |
C |
6: 142,414,031 (GRCm38) |
E33A |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,894,717 (GRCm38) |
Y205C |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,345,748 (GRCm38) |
I296T |
possibly damaging |
Het |
| Tgm1 |
G |
A |
14: 55,712,757 (GRCm38) |
|
probably benign |
Het |
| Trip6 |
A |
G |
5: 137,313,679 (GRCm38) |
C47R |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,283,734 (GRCm38) |
D309G |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,153,519 (GRCm38) |
K221E |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm38) |
P46S |
probably benign |
Het |
| Vmn1r57 |
A |
T |
7: 5,220,631 (GRCm38) |
N52Y |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,244,358 (GRCm38) |
F557L |
probably benign |
Het |
| Zbed5 |
T |
C |
5: 129,902,277 (GRCm38) |
Y356H |
possibly damaging |
Het |
| Zic4 |
C |
A |
9: 91,384,341 (GRCm38) |
|
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 |
|
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'- GCCCTCTTAGCACTTGTAGATTAC -3'
(R):5'- TTTGGGGCAGAGTCTCACATAG -3'
Sequencing Primer
(F):5'- ACAATAGATTACTTTTCAAAAGCAGC -3'
(R):5'- ACATAGGCTGTGCTGGCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation