Incidental Mutation 'R1618:Tnks'
| ID |
174437 |
| 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 |
039655-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1618 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34875276 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 373
(N373K)
|
| 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: N373K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: N373K
| 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 |
0.7922 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.1%
|
| Validation Efficiency |
96% (79/82) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449E01Rik |
T |
C |
14: 105,498,946 (GRCm38) |
|
noncoding transcript |
Het |
| Abca8b |
A |
T |
11: 109,949,888 (GRCm38) |
|
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,127,871 (GRCm38) |
G547R |
unknown |
Het |
| Anln |
A |
G |
9: 22,350,918 (GRCm38) |
|
probably null |
Het |
| Anpep |
T |
G |
7: 79,835,417 (GRCm38) |
Q607P |
probably benign |
Het |
| Arl13b |
A |
C |
16: 62,813,277 (GRCm38) |
|
probably null |
Het |
| Asxl3 |
T |
C |
18: 22,516,987 (GRCm38) |
S678P |
probably damaging |
Het |
| Atf6b |
C |
T |
17: 34,647,728 (GRCm38) |
Q58* |
probably null |
Het |
| Camsap3 |
A |
G |
8: 3,598,740 (GRCm38) |
T20A |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,652,810 (GRCm38) |
M782L |
probably benign |
Het |
| Cngb3 |
T |
C |
4: 19,364,260 (GRCm38) |
S155P |
probably benign |
Het |
| Coro1a |
T |
C |
7: 126,701,547 (GRCm38) |
I162V |
probably benign |
Het |
| Cry1 |
T |
A |
10: 85,146,454 (GRCm38) |
I343F |
probably damaging |
Het |
| Csnk1e |
A |
T |
15: 79,424,850 (GRCm38) |
M292K |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,663,190 (GRCm38) |
L1467H |
probably damaging |
Het |
| Cul9 |
A |
T |
17: 46,525,892 (GRCm38) |
M1069K |
probably benign |
Het |
| Cyp2c67 |
C |
A |
19: 39,643,264 (GRCm38) |
|
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,015,465 (GRCm38) |
I2633V |
probably damaging |
Het |
| Eif4g3 |
C |
A |
4: 138,206,058 (GRCm38) |
D1731E |
probably damaging |
Het |
| Epb41l4b |
T |
C |
4: 57,032,204 (GRCm38) |
T592A |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,799,118 (GRCm38) |
|
probably benign |
Het |
| Exo1 |
T |
A |
1: 175,901,386 (GRCm38) |
M672K |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 71,710,403 (GRCm38) |
S661G |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,508,168 (GRCm38) |
Y188H |
possibly damaging |
Het |
| Foxb1 |
T |
C |
9: 69,760,011 (GRCm38) |
D79G |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,829,281 (GRCm38) |
Y610C |
probably damaging |
Het |
| Gm3095 |
T |
A |
14: 3,964,572 (GRCm38) |
Y97N |
probably damaging |
Het |
| Gm3095 |
C |
A |
14: 3,964,571 (GRCm38) |
N96K |
probably damaging |
Het |
| Gmfb |
A |
T |
14: 46,811,780 (GRCm38) |
L128* |
probably null |
Het |
| Gprc5c |
T |
A |
11: 114,864,394 (GRCm38) |
V299D |
possibly damaging |
Het |
| Hsfy2 |
C |
T |
1: 56,637,229 (GRCm38) |
V50I |
probably benign |
Het |
| Hspa12b |
A |
C |
2: 131,140,929 (GRCm38) |
K236Q |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,259,858 (GRCm38) |
Y566C |
probably damaging |
Het |
| Itpr3 |
A |
C |
17: 27,116,607 (GRCm38) |
|
probably null |
Het |
| Kprp |
G |
A |
3: 92,825,476 (GRCm38) |
T89I |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 121,138,652 (GRCm38) |
E650G |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 74,813,704 (GRCm38) |
D331G |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 163,024,541 (GRCm38) |
I860F |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,879,475 (GRCm38) |
E403Q |
possibly damaging |
Het |
| Myt1l |
A |
G |
12: 29,827,397 (GRCm38) |
D349G |
unknown |
Het |
| Ndufs2 |
T |
C |
1: 171,246,121 (GRCm38) |
T31A |
probably benign |
Het |
| Ndufs3 |
A |
T |
2: 90,898,672 (GRCm38) |
S157T |
probably benign |
Het |
| Nfix |
G |
A |
8: 84,726,526 (GRCm38) |
R300C |
probably damaging |
Het |
| Noct |
T |
A |
3: 51,247,830 (GRCm38) |
S6R |
probably damaging |
Het |
| Npas2 |
T |
A |
1: 39,300,727 (GRCm38) |
H119Q |
probably damaging |
Het |
| Oprl1 |
A |
T |
2: 181,718,853 (GRCm38) |
Y207F |
probably benign |
Het |
| Or2n1e |
G |
A |
17: 38,275,666 (GRCm38) |
|
probably null |
Het |
| Or4c11 |
A |
G |
2: 88,865,527 (GRCm38) |
|
probably null |
Het |
| Or8k30 |
T |
G |
2: 86,508,849 (GRCm38) |
L130R |
probably damaging |
Het |
| Palm3 |
G |
T |
8: 84,029,662 (GRCm38) |
S601I |
possibly damaging |
Het |
| Plscr1 |
T |
A |
9: 92,266,495 (GRCm38) |
C163S |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,493,170 (GRCm38) |
M713L |
probably benign |
Het |
| Rdm1 |
A |
G |
11: 101,628,391 (GRCm38) |
D72G |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,060,368 (GRCm38) |
D442G |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,863,929 (GRCm38) |
V262M |
possibly damaging |
Het |
| Sbno1 |
T |
C |
5: 124,404,216 (GRCm38) |
Y338C |
probably damaging |
Het |
| Seh1l |
T |
G |
18: 67,788,736 (GRCm38) |
V222G |
probably damaging |
Het |
| Septin12 |
T |
C |
16: 4,996,476 (GRCm38) |
K43R |
probably damaging |
Het |
| Slc25a18 |
A |
C |
6: 120,786,342 (GRCm38) |
|
probably benign |
Het |
| Slc33a1 |
T |
C |
3: 63,948,229 (GRCm38) |
T332A |
possibly damaging |
Het |
| Slc35d3 |
A |
G |
10: 19,849,163 (GRCm38) |
S316P |
probably benign |
Het |
| Spmip7 |
A |
G |
11: 11,488,641 (GRCm38) |
|
probably benign |
Het |
| Srrm2 |
T |
A |
17: 23,818,932 (GRCm38) |
|
probably benign |
Het |
| Srsf12 |
C |
T |
4: 33,230,974 (GRCm38) |
S156L |
probably damaging |
Het |
| Syce3 |
A |
G |
15: 89,390,403 (GRCm38) |
M49T |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,276,260 (GRCm38) |
|
probably benign |
Het |
| Togaram1 |
A |
G |
12: 64,967,073 (GRCm38) |
N366S |
possibly damaging |
Het |
| Trpm1 |
G |
A |
7: 64,240,535 (GRCm38) |
R962H |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,877,631 (GRCm38) |
M1885L |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,771,796 (GRCm38) |
D1070G |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,814,224 (GRCm38) |
M3399T |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,257,187 (GRCm38) |
T196I |
probably benign |
Het |
| Vmn1r168 |
T |
C |
7: 23,541,300 (GRCm38) |
I194T |
probably benign |
Het |
| Vmn2r73 |
C |
T |
7: 85,875,912 (GRCm38) |
W9* |
probably null |
Het |
| Wdr17 |
T |
C |
8: 54,639,895 (GRCm38) |
Y1076C |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,383,830 (GRCm38) |
T5152A |
unknown |
Het |
| Zbtb46 |
A |
T |
2: 181,424,249 (GRCm38) |
V36E |
possibly damaging |
Het |
| Zfp558 |
T |
C |
9: 18,469,283 (GRCm38) |
I9M |
possibly damaging |
Het |
| Zscan2 |
T |
A |
7: 80,875,786 (GRCm38) |
Y418* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGCAGCAGATGATTGTGAGAAGTC -3'
(R):5'- AAGCAGGCCCTGATACCTGGACATTG -3'
Sequencing Primer
(F):5'- gccaggaatcaaaccccag -3'
(R):5'- CCTGGACATTGTTACATAGGAGAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation