Incidental Mutation 'IGL02486:Tnks'
ID |
295425 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tnks
|
Ensembl Gene |
ENSMUSG00000031529 |
Gene Name |
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase |
Synonyms |
mTNKS1, TANK1, tankyrase 1, 4930554K12Rik, D130072O21Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02486
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
35296333-35432844 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35318352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 841
(N841I)
|
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: N841I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033929 Gene: ENSMUSG00000031529 AA Change: N841I
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010106E10Rik |
T |
A |
X: 111,424,955 (GRCm39) |
N147K |
probably benign |
Het |
Abtb3 |
C |
A |
10: 85,476,419 (GRCm39) |
P900H |
probably damaging |
Het |
Bcas1 |
T |
C |
2: 170,248,318 (GRCm39) |
D201G |
probably damaging |
Het |
Bmp1 |
T |
A |
14: 70,742,216 (GRCm39) |
D333V |
possibly damaging |
Het |
Capn6 |
T |
C |
X: 142,587,673 (GRCm39) |
E535G |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,607,487 (GRCm39) |
V280A |
possibly damaging |
Het |
Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,252,092 (GRCm39) |
|
probably benign |
Het |
Daam1 |
T |
C |
12: 71,993,919 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
T |
A |
5: 9,472,323 (GRCm39) |
V340E |
probably benign |
Het |
Eno4 |
A |
G |
19: 58,934,097 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
C |
8: 45,478,109 (GRCm39) |
V2385A |
probably benign |
Het |
Ffar4 |
T |
C |
19: 38,102,208 (GRCm39) |
I281T |
possibly damaging |
Het |
Flcn |
C |
T |
11: 59,691,869 (GRCm39) |
W260* |
probably null |
Het |
Fry |
T |
G |
5: 150,414,642 (GRCm39) |
S496A |
probably damaging |
Het |
Gk |
T |
A |
X: 84,759,274 (GRCm39) |
I373F |
possibly damaging |
Het |
Gpr108 |
T |
C |
17: 57,542,977 (GRCm39) |
N528S |
probably damaging |
Het |
Hey1 |
T |
A |
3: 8,731,579 (GRCm39) |
R50W |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,807,287 (GRCm39) |
Y393C |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,310,107 (GRCm39) |
E3260D |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,414,927 (GRCm39) |
I1365T |
probably damaging |
Het |
Letmd1 |
A |
G |
15: 100,372,992 (GRCm39) |
R31G |
probably damaging |
Het |
Mak16 |
T |
C |
8: 31,650,614 (GRCm39) |
|
probably benign |
Het |
Mapkapk3 |
C |
T |
9: 107,166,467 (GRCm39) |
G26D |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,925,844 (GRCm39) |
V603A |
possibly damaging |
Het |
Myom1 |
G |
T |
17: 71,406,939 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
A |
2: 52,172,615 (GRCm39) |
N1564I |
possibly damaging |
Het |
Nox1 |
C |
T |
X: 132,993,560 (GRCm39) |
G433D |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,089 (GRCm39) |
F111S |
probably damaging |
Het |
Or2n1b |
T |
A |
17: 38,460,112 (GRCm39) |
L211Q |
probably damaging |
Het |
Or51i2 |
T |
C |
7: 103,689,617 (GRCm39) |
S205P |
probably damaging |
Het |
Or52m1 |
A |
T |
7: 102,289,627 (GRCm39) |
H58L |
probably damaging |
Het |
Rcc2 |
T |
C |
4: 140,437,673 (GRCm39) |
W135R |
probably damaging |
Het |
Rgl2 |
A |
G |
17: 34,154,954 (GRCm39) |
I205V |
probably damaging |
Het |
Robo4 |
G |
A |
9: 37,319,670 (GRCm39) |
G640E |
probably damaging |
Het |
Slc26a5 |
A |
G |
5: 22,051,323 (GRCm39) |
F64L |
probably damaging |
Het |
Slc27a2 |
A |
G |
2: 126,395,270 (GRCm39) |
T66A |
probably benign |
Het |
St18 |
T |
C |
1: 6,890,307 (GRCm39) |
S580P |
probably damaging |
Het |
Syt15 |
G |
A |
14: 33,944,933 (GRCm39) |
R160K |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,984,909 (GRCm39) |
S200P |
probably damaging |
Het |
Tnr |
G |
A |
1: 159,679,664 (GRCm39) |
|
probably null |
Het |
Unc13d |
A |
G |
11: 115,960,632 (GRCm39) |
|
probably benign |
Het |
Usp4 |
T |
C |
9: 108,228,228 (GRCm39) |
L74P |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |