Incidental Mutation 'R8343:Tnks'
| ID |
645021 |
| 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 |
067866-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34834584 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1244
(F1244L)
|
| 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: F1244L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: F1244L
| 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 |
probably damaging
Transcript: ENSMUST00000210014
AA Change: F100L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (64/66) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars |
T |
A |
8: 111,040,729 (GRCm38) |
W156R |
probably damaging |
Het |
| Acvr1 |
T |
A |
2: 58,474,274 (GRCm38) |
|
probably null |
Het |
| Adamts2 |
G |
T |
11: 50,603,488 (GRCm38) |
V130L |
probably damaging |
Het |
| Adcy4 |
C |
T |
14: 55,775,240 (GRCm38) |
V541I |
probably benign |
Het |
| Adgrl2 |
C |
T |
3: 148,846,906 (GRCm38) |
V654I |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,376,928 (GRCm38) |
K258* |
probably null |
Het |
| Akap11 |
A |
T |
14: 78,512,489 (GRCm38) |
S819R |
|
Het |
| Alox5ap |
T |
C |
5: 149,287,609 (GRCm38) |
F121L |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,901,514 (GRCm38) |
M2060K |
probably damaging |
Het |
| C030005K15Rik |
T |
C |
10: 97,725,552 (GRCm38) |
I106V |
unknown |
Het |
| Carmil2 |
T |
A |
8: 105,691,084 (GRCm38) |
S604T |
probably benign |
Het |
| Cdhr1 |
T |
C |
14: 37,091,978 (GRCm38) |
T164A |
probably benign |
Het |
| Dhx30 |
T |
C |
9: 110,085,501 (GRCm38) |
E976G |
possibly damaging |
Het |
| Dnah17 |
C |
T |
11: 118,114,195 (GRCm38) |
G788R |
probably benign |
Het |
| Dus2 |
T |
C |
8: 105,996,013 (GRCm38) |
|
probably benign |
Het |
| Etv6 |
T |
C |
6: 134,248,754 (GRCm38) |
V316A |
possibly damaging |
Het |
| Fabp9 |
T |
G |
3: 10,194,025 (GRCm38) |
K107T |
possibly damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,609,203 (GRCm38) |
|
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,163,263 (GRCm38) |
V92A |
probably benign |
Het |
| Gfy |
A |
G |
7: 45,176,595 (GRCm38) |
L453P |
probably damaging |
Het |
| Gm6588 |
C |
T |
5: 112,450,787 (GRCm38) |
T400I |
probably benign |
Het |
| Gp2 |
C |
T |
7: 119,442,787 (GRCm38) |
C505Y |
probably benign |
Het |
| Gtpbp8 |
T |
C |
16: 44,746,313 (GRCm38) |
R9G |
probably benign |
Het |
| Hipk4 |
G |
T |
7: 27,523,608 (GRCm38) |
R31L |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,905,724 (GRCm38) |
M2900K |
probably damaging |
Het |
| Ighv1-20 |
T |
C |
12: 114,724,190 (GRCm38) |
I6V |
probably benign |
Het |
| Il17d |
C |
T |
14: 57,542,480 (GRCm38) |
T153I |
probably damaging |
Het |
| Izumo3 |
T |
A |
4: 92,146,344 (GRCm38) |
N117I |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,850,535 (GRCm38) |
D236G |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,852,597 (GRCm38) |
D2405G |
unknown |
Het |
| Map4k2 |
T |
C |
19: 6,346,566 (GRCm38) |
W533R |
probably damaging |
Het |
| Matn1 |
C |
A |
4: 130,945,989 (GRCm38) |
Y89* |
probably null |
Het |
| Mettl18 |
T |
A |
1: 163,996,940 (GRCm38) |
Y277N |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,864,161 (GRCm38) |
G3615S |
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,160,675 (GRCm38) |
|
probably null |
Het |
| Myh4 |
T |
A |
11: 67,252,564 (GRCm38) |
S1041T |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,697,971 (GRCm38) |
V70L |
probably benign |
Het |
| Naaladl1 |
T |
C |
19: 6,109,673 (GRCm38) |
V378A |
possibly damaging |
Het |
| Nars |
T |
C |
18: 64,504,387 (GRCm38) |
D374G |
probably benign |
Het |
| Neb |
C |
T |
2: 52,308,271 (GRCm38) |
|
probably null |
Het |
| Neurl1b |
A |
G |
17: 26,431,991 (GRCm38) |
Y79C |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 55,863,791 (GRCm38) |
T306A |
probably benign |
Het |
| Ola1 |
G |
T |
2: 73,199,401 (GRCm38) |
R125S |
probably damaging |
Het |
| Olfr105-ps |
T |
A |
17: 37,383,231 (GRCm38) |
F221L |
probably benign |
Het |
| Olfr644 |
A |
T |
7: 104,068,176 (GRCm38) |
V285D |
probably damaging |
Het |
| Pak1ip1 |
C |
A |
13: 41,004,738 (GRCm38) |
T29K |
probably benign |
Het |
| Podnl1 |
T |
A |
8: 84,130,773 (GRCm38) |
L337H |
|
Het |
| Rictor |
T |
G |
15: 6,778,319 (GRCm38) |
|
probably null |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,579,904 (GRCm38) |
|
probably benign |
Het |
| Sel1l2 |
T |
C |
2: 140,230,833 (GRCm38) |
I627M |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,111,428 (GRCm38) |
S352P |
probably damaging |
Het |
| Slc6a6 |
G |
A |
6: 91,726,243 (GRCm38) |
W199* |
probably null |
Het |
| Smc2 |
T |
A |
4: 52,450,965 (GRCm38) |
V261E |
probably benign |
Het |
| Sorcs3 |
G |
A |
19: 48,704,369 (GRCm38) |
|
probably null |
Het |
| Spdye4a |
T |
A |
5: 143,225,807 (GRCm38) |
M1L |
probably benign |
Het |
| Stag1 |
T |
C |
9: 100,757,766 (GRCm38) |
I125T |
possibly damaging |
Het |
| Stx8 |
T |
A |
11: 68,020,988 (GRCm38) |
D177E |
probably benign |
Het |
| Sun2 |
T |
C |
15: 79,738,924 (GRCm38) |
Y71C |
probably damaging |
Het |
| Tmed9 |
T |
C |
13: 55,594,804 (GRCm38) |
F129L |
probably benign |
Het |
| Tmem216 |
T |
A |
19: 10,551,972 (GRCm38) |
T17S |
probably benign |
Het |
| Tmpo |
A |
T |
10: 91,162,112 (GRCm38) |
N604K |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,533,807 (GRCm38) |
I196F |
probably benign |
Het |
| Tspan2 |
T |
C |
3: 102,768,910 (GRCm38) |
C212R |
probably damaging |
Het |
| Tspan4 |
A |
G |
7: 141,491,805 (GRCm38) |
D155G |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,660,496 (GRCm38) |
F730L |
possibly damaging |
Het |
| Txnrd2 |
G |
A |
16: 18,426,541 (GRCm38) |
A33T |
unknown |
Het |
| Uhrf1bp1l |
T |
C |
10: 89,791,419 (GRCm38) |
S449P |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,963,493 (GRCm38) |
R761H |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 170,120,104 (GRCm38) |
D101G |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,627,882 (GRCm38) |
F866S |
probably damaging |
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 |
|
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 |
|
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'- TGACTTGTTCGTGCTGTCAAC -3'
(R):5'- CACACAGACTTGAAAGTAGCATTTC -3'
Sequencing Primer
(F):5'- GTTCGTGCTGTCAACATACCTG -3'
(R):5'- TGAAAGTAGCATTTCAATTAACTTGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation