Incidental Mutation 'IGL02088:Tnks'
| ID |
279321 |
| 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, 4930554K12Rik, D130072O21Rik, TANK1, tankyrase 1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34839994 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1134
(I1134F)
|
| 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: I1134F
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: I1134F
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
T |
C |
9: 104,098,881 (GRCm38) |
E289G |
probably damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,580,590 (GRCm38) |
|
probably benign |
Het |
| Ampd3 |
T |
A |
7: 110,793,686 (GRCm38) |
D220E |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,999,373 (GRCm38) |
V136A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,542,859 (GRCm38) |
K486R |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,188,695 (GRCm38) |
I637V |
probably benign |
Het |
| Axin2 |
T |
A |
11: 108,923,616 (GRCm38) |
F110Y |
probably damaging |
Het |
| Cdh12 |
A |
T |
15: 21,480,339 (GRCm38) |
K214* |
probably null |
Het |
| Cfap44 |
A |
C |
16: 44,451,628 (GRCm38) |
E1248A |
possibly damaging |
Het |
| Cryba4 |
A |
G |
5: 112,251,009 (GRCm38) |
|
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,703,521 (GRCm38) |
|
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,459,118 (GRCm38) |
|
probably null |
Het |
| Dok3 |
A |
T |
13: 55,524,370 (GRCm38) |
V165E |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,806,548 (GRCm38) |
R1147S |
probably damaging |
Het |
| Fam212a |
A |
G |
9: 107,984,457 (GRCm38) |
F220S |
probably damaging |
Het |
| Fbxl6 |
G |
T |
15: 76,535,906 (GRCm38) |
C502* |
probably null |
Het |
| Gp2 |
A |
T |
7: 119,454,469 (GRCm38) |
Y90N |
probably damaging |
Het |
| H1fnt |
G |
T |
15: 98,257,178 (GRCm38) |
T30K |
probably damaging |
Het |
| Itfg2 |
A |
G |
6: 128,411,606 (GRCm38) |
V306A |
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,467,108 (GRCm38) |
Y219C |
probably damaging |
Het |
| Mccc1 |
A |
T |
3: 35,974,202 (GRCm38) |
I485N |
probably damaging |
Het |
| Mettl25 |
A |
G |
10: 105,823,250 (GRCm38) |
F391L |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,891,168 (GRCm38) |
|
noncoding transcript |
Het |
| Muc2 |
T |
C |
7: 141,751,504 (GRCm38) |
C182R |
probably damaging |
Het |
| Nlrp4g |
T |
C |
9: 124,350,453 (GRCm38) |
|
noncoding transcript |
Het |
| Nms |
A |
G |
1: 38,939,277 (GRCm38) |
|
probably benign |
Het |
| Nr3c1 |
T |
C |
18: 39,424,391 (GRCm38) |
N503S |
probably damaging |
Het |
| Olfr1495 |
T |
C |
19: 13,768,666 (GRCm38) |
F108S |
probably damaging |
Het |
| Olfr186 |
A |
G |
16: 59,027,052 (GRCm38) |
L285P |
probably damaging |
Het |
| Olfr828 |
C |
T |
9: 18,815,923 (GRCm38) |
V124I |
probably benign |
Het |
| Pcdhb5 |
G |
A |
18: 37,321,959 (GRCm38) |
S464N |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,050,804 (GRCm38) |
T6A |
unknown |
Het |
| Rdx |
A |
G |
9: 52,060,883 (GRCm38) |
|
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,789,653 (GRCm38) |
T403A |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,211,325 (GRCm38) |
F148L |
probably benign |
Het |
| Tk1 |
A |
G |
11: 117,824,665 (GRCm38) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,726,691 (GRCm38) |
V29990A |
probably damaging |
Het |
| Zcchc11 |
A |
G |
4: 108,512,218 (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 |
|
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 |
|
R3917: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation