Incidental Mutation 'R2198:Tnks'
| ID |
238493 |
| 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 |
040200-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2198 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34848649 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 994
(D994E)
|
| 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 benign
Transcript: ENSMUST00000033929
AA Change: D994E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: D994E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (60/61) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932431P20Rik |
G |
T |
7: 29,527,272 (GRCm38) |
|
noncoding transcript |
Het |
| Adra1a |
T |
C |
14: 66,637,936 (GRCm38) |
I120T |
probably damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,577,465 (GRCm38) |
P186L |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,350,184 (GRCm38) |
K251R |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,934,577 (GRCm38) |
E789G |
possibly damaging |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,545,769 (GRCm38) |
|
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,347,259 (GRCm38) |
|
probably benign |
Het |
| Carf |
G |
A |
1: 60,141,484 (GRCm38) |
R355H |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,947,322 (GRCm38) |
|
probably null |
Het |
| Celf6 |
G |
T |
9: 59,603,339 (GRCm38) |
L169F |
possibly damaging |
Het |
| Cep295nl |
A |
T |
11: 118,332,593 (GRCm38) |
I475N |
probably benign |
Het |
| Chdh |
T |
A |
14: 30,031,532 (GRCm38) |
S133T |
possibly damaging |
Het |
| Cnot6l |
C |
T |
5: 96,079,941 (GRCm38) |
D478N |
possibly damaging |
Het |
| Ctnna3 |
C |
A |
10: 65,002,745 (GRCm38) |
T867K |
probably benign |
Het |
| Ctse |
T |
G |
1: 131,672,447 (GRCm38) |
Y311* |
probably null |
Het |
| Ddx60 |
T |
A |
8: 61,958,063 (GRCm38) |
M453K |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,859,499 (GRCm38) |
F3927L |
possibly damaging |
Het |
| Dsg4 |
T |
C |
18: 20,461,442 (GRCm38) |
S543P |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,175,701 (GRCm38) |
T237S |
probably benign |
Het |
| Eml6 |
T |
G |
11: 29,850,935 (GRCm38) |
H357P |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,844,144 (GRCm38) |
I38V |
possibly damaging |
Het |
| Erap1 |
C |
T |
13: 74,646,687 (GRCm38) |
T155I |
probably damaging |
Het |
| Erh |
T |
C |
12: 80,642,785 (GRCm38) |
|
probably benign |
Het |
| F5 |
A |
T |
1: 164,207,034 (GRCm38) |
K1834M |
probably damaging |
Het |
| Fyn |
A |
G |
10: 39,529,545 (GRCm38) |
E269G |
probably benign |
Het |
| Gm4884 |
A |
G |
7: 41,040,805 (GRCm38) |
T42A |
probably benign |
Het |
| Gm8979 |
T |
A |
7: 106,083,551 (GRCm38) |
M166L |
probably benign |
Het |
| Grm1 |
T |
G |
10: 10,782,776 (GRCm38) |
R323S |
probably damaging |
Het |
| Gstt4 |
T |
C |
10: 75,822,401 (GRCm38) |
D8G |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,732,402 (GRCm38) |
D94G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,265,741 (GRCm38) |
|
probably null |
Het |
| Naip2 |
A |
T |
13: 100,152,592 (GRCm38) |
F1210Y |
probably damaging |
Het |
| Nifk |
A |
G |
1: 118,329,400 (GRCm38) |
R88G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,433,761 (GRCm38) |
M803I |
probably damaging |
Het |
| Olfr1388 |
C |
T |
11: 49,443,959 (GRCm38) |
S36F |
probably benign |
Het |
| Olfr1537 |
G |
A |
9: 39,237,752 (GRCm38) |
T224I |
possibly damaging |
Het |
| Olfr458 |
A |
G |
6: 42,461,016 (GRCm38) |
M1T |
probably null |
Het |
| Olfr794 |
T |
A |
10: 129,571,046 (GRCm38) |
Y130* |
probably null |
Het |
| Pip4k2a |
A |
T |
2: 18,847,655 (GRCm38) |
M272K |
probably damaging |
Het |
| Ppp1cb |
G |
T |
5: 32,483,360 (GRCm38) |
C139F |
probably damaging |
Het |
| Rad23b |
G |
A |
4: 55,385,497 (GRCm38) |
G345R |
possibly damaging |
Het |
| Shc4 |
A |
T |
2: 125,639,346 (GRCm38) |
V548E |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,763,263 (GRCm38) |
|
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,408,256 (GRCm38) |
K783* |
probably null |
Het |
| Sobp |
A |
C |
10: 43,022,524 (GRCm38) |
I355S |
possibly damaging |
Het |
| Thbs4 |
A |
G |
13: 92,763,271 (GRCm38) |
Y491H |
possibly damaging |
Het |
| Tle2 |
T |
C |
10: 81,590,313 (GRCm38) |
V727A |
probably damaging |
Het |
| Tmprss9 |
C |
T |
10: 80,887,459 (GRCm38) |
P251L |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,636,672 (GRCm38) |
F394L |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,910,746 (GRCm38) |
Y144F |
probably benign |
Het |
| Usp22 |
A |
G |
11: 61,159,337 (GRCm38) |
F324S |
probably damaging |
Het |
| Vmn1r78 |
G |
T |
7: 12,152,560 (GRCm38) |
V33F |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,446,081 (GRCm38) |
R1494Q |
probably benign |
Het |
| Zc3h14 |
G |
A |
12: 98,752,809 (GRCm38) |
M144I |
probably damaging |
Het |
| Zc3h14 |
G |
A |
12: 98,752,810 (GRCm38) |
V145M |
possibly damaging |
Het |
| Zfp82 |
T |
C |
7: 30,057,511 (GRCm38) |
T49A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATCCTGTCTTTGACTTAGGG -3'
(R):5'- TTTTAGGCTGATGACATCCGG -3'
Sequencing Primer
(F):5'- TGACTTAGGGCCTCACCATGTAG -3'
(R):5'- CATCCGGGCTCTGCTGATAGATG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation