Incidental Mutation 'IGL01448:Tnks'
| ID |
84512 |
| 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 # |
IGL01448
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
35296333-35432844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35307136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1138
(Y1138H)
|
| 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: Y1138H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: Y1138H
| 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
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
A |
T |
2: 130,247,767 (GRCm39) |
E75D |
possibly damaging |
Het |
| 1700084J12Rik |
A |
G |
15: 33,405,779 (GRCm39) |
|
probably benign |
Het |
| 2610303G11Rik |
T |
A |
9: 98,068,762 (GRCm39) |
|
noncoding transcript |
Het |
| 4931414P19Rik |
T |
C |
14: 54,823,417 (GRCm39) |
D320G |
possibly damaging |
Het |
| Adamts6 |
G |
A |
13: 104,433,672 (GRCm39) |
E34K |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,654,881 (GRCm39) |
N3142K |
possibly damaging |
Het |
| Anapc7 |
G |
A |
5: 122,566,276 (GRCm39) |
A62T |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,356,256 (GRCm39) |
P1152L |
probably benign |
Het |
| Cc2d2a |
C |
T |
5: 43,841,527 (GRCm39) |
T181I |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,300,555 (GRCm39) |
L2835P |
probably damaging |
Het |
| Ctns |
A |
T |
11: 73,079,548 (GRCm39) |
V99D |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,134 (GRCm39) |
R429G |
probably damaging |
Het |
| Ddx11 |
T |
C |
17: 66,441,132 (GRCm39) |
V218A |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,756,389 (GRCm39) |
|
probably benign |
Het |
| Erich1 |
G |
T |
8: 14,128,853 (GRCm39) |
T29N |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,636,686 (GRCm39) |
E215G |
probably damaging |
Het |
| Fam184a |
G |
T |
10: 53,575,045 (GRCm39) |
A188E |
probably benign |
Het |
| Fign |
A |
G |
2: 63,810,032 (GRCm39) |
S413P |
probably damaging |
Het |
| Fkbp6 |
A |
G |
5: 135,378,550 (GRCm39) |
S33P |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,279,745 (GRCm39) |
|
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,542,437 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,875,770 (GRCm39) |
T1575A |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,513,890 (GRCm39) |
E32G |
probably damaging |
Het |
| Ints5 |
C |
T |
19: 8,872,851 (GRCm39) |
P270L |
possibly damaging |
Het |
| Itga7 |
G |
T |
10: 128,785,337 (GRCm39) |
E847* |
probably null |
Het |
| Kcns3 |
A |
C |
12: 11,141,644 (GRCm39) |
S352A |
possibly damaging |
Het |
| Kiz |
A |
G |
2: 146,705,721 (GRCm39) |
K94E |
probably benign |
Het |
| Lin7b |
C |
T |
7: 45,018,624 (GRCm39) |
V12M |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,959,570 (GRCm39) |
I1409N |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,777,161 (GRCm39) |
H407R |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 34,056,146 (GRCm39) |
T506A |
probably damaging |
Het |
| Or10p21 |
A |
G |
10: 128,847,729 (GRCm39) |
T192A |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,012,378 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5p72 |
T |
A |
7: 108,022,235 (GRCm39) |
Y152* |
probably null |
Het |
| Or6c69 |
A |
G |
10: 129,748,114 (GRCm39) |
I11T |
possibly damaging |
Het |
| Pclo |
A |
C |
5: 14,726,408 (GRCm39) |
|
probably benign |
Het |
| Pes1 |
G |
A |
11: 3,927,979 (GRCm39) |
E544K |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,568,315 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,976,244 (GRCm39) |
M1521V |
probably benign |
Het |
| Rapgef2 |
C |
T |
3: 79,011,269 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,245,403 (GRCm39) |
V735A |
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,835,902 (GRCm39) |
S316P |
possibly damaging |
Het |
| Smarce1 |
C |
T |
11: 99,101,013 (GRCm39) |
G373E |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,373 (GRCm39) |
R918S |
probably benign |
Het |
| St3gal4 |
T |
C |
9: 34,963,627 (GRCm39) |
K227R |
probably benign |
Het |
| Stra6l |
T |
A |
4: 45,864,864 (GRCm39) |
|
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,036,341 (GRCm39) |
I425V |
probably damaging |
Het |
| Tcaf2 |
T |
C |
6: 42,607,262 (GRCm39) |
T231A |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Vezt |
T |
A |
10: 93,832,719 (GRCm39) |
I231F |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Zbed3 |
A |
G |
13: 95,473,142 (GRCm39) |
K189E |
possibly damaging |
Het |
| Zfp512b |
T |
C |
2: 181,229,578 (GRCm39) |
T625A |
possibly damaging |
Het |
| Zfp827 |
A |
T |
8: 79,787,362 (GRCm39) |
Q176L |
possibly 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 |
|
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation