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, TANK1, tankyrase 1, 4930554K12Rik, D130072O21Rik |
| 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 |
35296333-35432844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35320515 bp (GRCm39)
|
| 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: 121,737,277 (GRCm39) |
V498A |
probably damaging |
Het |
| Adam19 |
A |
G |
11: 45,951,762 (GRCm39) |
E37G |
probably benign |
Het |
| Apol11b |
A |
G |
15: 77,519,504 (GRCm39) |
I192T |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,650,561 (GRCm39) |
F537Y |
probably damaging |
Het |
| Atad5 |
A |
C |
11: 79,994,120 (GRCm39) |
K785N |
probably null |
Het |
| Atp1b2 |
A |
G |
11: 69,493,901 (GRCm39) |
V93A |
probably damaging |
Het |
| Bcam |
T |
C |
7: 19,499,375 (GRCm39) |
Y216C |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,464,292 (GRCm39) |
E1352G |
probably damaging |
Het |
| C030005K15Rik |
A |
C |
10: 97,561,453 (GRCm39) |
S93A |
unknown |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Ccdc88c |
A |
G |
12: 100,907,366 (GRCm39) |
|
probably null |
Het |
| Ccdc89 |
A |
G |
7: 90,076,033 (GRCm39) |
D81G |
probably damaging |
Het |
| Ccnt1 |
A |
G |
15: 98,441,940 (GRCm39) |
S443P |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,933,719 (GRCm39) |
|
probably null |
Het |
| Cdk11b |
T |
C |
4: 155,711,258 (GRCm39) |
S47P |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,886,189 (GRCm39) |
D142G |
probably benign |
Het |
| Cntnap4 |
C |
G |
8: 113,602,165 (GRCm39) |
P1190A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,384,362 (GRCm39) |
Y567* |
probably null |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,904,922 (GRCm39) |
Y651C |
probably damaging |
Het |
| Fzd3 |
A |
T |
14: 65,473,379 (GRCm39) |
F130I |
probably damaging |
Het |
| Gabarapl2 |
T |
A |
8: 112,679,028 (GRCm39) |
F115L |
probably benign |
Het |
| Gm1043 |
G |
A |
5: 37,350,285 (GRCm39) |
|
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,806,760 (GRCm39) |
F144L |
probably benign |
Het |
| Gm21961 |
A |
T |
15: 64,886,733 (GRCm39) |
D7E |
unknown |
Het |
| Gtf3a |
A |
G |
5: 146,892,244 (GRCm39) |
K332E |
probably benign |
Het |
| Haao |
A |
G |
17: 84,146,228 (GRCm39) |
|
probably null |
Het |
| Habp2 |
T |
A |
19: 56,299,611 (GRCm39) |
C170S |
probably damaging |
Het |
| Heatr3 |
T |
G |
8: 88,876,999 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
G |
9: 66,341,748 (GRCm39) |
C1846G |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 119,956,624 (GRCm39) |
S1647P |
probably benign |
Het |
| Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,286,625 (GRCm39) |
E3648G |
probably damaging |
Het |
| Jaml |
T |
C |
9: 45,012,449 (GRCm39) |
|
probably benign |
Het |
| Jund |
C |
T |
8: 71,151,673 (GRCm39) |
|
probably benign |
Het |
| Klra14-ps |
T |
C |
6: 130,134,595 (GRCm39) |
|
noncoding transcript |
Het |
| Krt88 |
G |
A |
15: 101,350,809 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Lyzl4 |
T |
A |
9: 121,412,101 (GRCm39) |
D105V |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,961,494 (GRCm39) |
I575V |
probably benign |
Het |
| Myd88 |
T |
C |
9: 119,170,464 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,557,404 (GRCm39) |
V512E |
probably damaging |
Het |
| Ndufv1 |
A |
G |
19: 4,060,002 (GRCm39) |
Y33H |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,394,439 (GRCm39) |
C608* |
probably null |
Het |
| Or10al2 |
T |
A |
17: 37,983,684 (GRCm39) |
F257I |
probably damaging |
Het |
| Or8b37 |
A |
T |
9: 37,958,841 (GRCm39) |
I108F |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,480,245 (GRCm39) |
K1317* |
probably null |
Het |
| Pld5 |
A |
G |
1: 175,791,504 (GRCm39) |
S501P |
probably benign |
Het |
| Pnpo |
A |
G |
11: 96,830,583 (GRCm39) |
V146A |
probably damaging |
Het |
| Ppdpf |
A |
G |
2: 180,829,521 (GRCm39) |
Y16C |
probably benign |
Het |
| Ppp1r27 |
A |
G |
11: 120,441,785 (GRCm39) |
V32A |
possibly damaging |
Het |
| Rbm28 |
T |
C |
6: 29,154,788 (GRCm39) |
D294G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,036,999 (GRCm39) |
D817E |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,387,587 (GRCm39) |
D252G |
possibly damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,899,899 (GRCm39) |
|
probably null |
Het |
| Slc35a5 |
G |
C |
16: 44,978,521 (GRCm39) |
|
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,561,617 (GRCm39) |
S50P |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,907,819 (GRCm39) |
Y241* |
probably null |
Het |
| Slu7 |
G |
T |
11: 43,331,511 (GRCm39) |
|
probably null |
Het |
| Smad2 |
T |
A |
18: 76,421,008 (GRCm39) |
D82E |
probably benign |
Het |
| Spx |
A |
C |
6: 142,359,757 (GRCm39) |
E33A |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,860,976 (GRCm39) |
Y205C |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,236,574 (GRCm39) |
I296T |
possibly damaging |
Het |
| Tgm1 |
G |
A |
14: 55,950,214 (GRCm39) |
|
probably benign |
Het |
| Trip6 |
A |
G |
5: 137,311,941 (GRCm39) |
C47R |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,174,560 (GRCm39) |
D309G |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,643,547 (GRCm39) |
K221E |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn1r57 |
A |
T |
7: 5,223,630 (GRCm39) |
N52Y |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,620 (GRCm39) |
F557L |
probably benign |
Het |
| Zbed5 |
T |
C |
5: 129,931,118 (GRCm39) |
Y356H |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,039 (GRCm39) |
|
probably benign |
Het |
| Zic4 |
C |
A |
9: 91,266,394 (GRCm39) |
|
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 |
|
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'- GCCCTCTTAGCACTTGTAGATTAC -3'
(R):5'- TTTGGGGCAGAGTCTCACATAG -3'
Sequencing Primer
(F):5'- ACAATAGATTACTTTTCAAAAGCAGC -3'
(R):5'- ACATAGGCTGTGCTGGCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation