Incidental Mutation 'R5091:Tnks'
| ID |
387756 |
| 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 |
042680-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34841809 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1099
(T1099A)
|
| 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: T1099A
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: T1099A
| 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
|
| Meta Mutation Damage Score |
0.2019 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (67/70) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,553,244 (GRCm38) |
S174P |
probably damaging |
Het |
| 4931414P19Rik |
T |
C |
14: 54,585,711 (GRCm38) |
E343G |
probably damaging |
Het |
| 9530053A07Rik |
A |
C |
7: 28,156,958 (GRCm38) |
I2057L |
probably benign |
Het |
| Abca14 |
T |
C |
7: 120,252,274 (GRCm38) |
V825A |
probably damaging |
Het |
| Abca8b |
G |
T |
11: 109,936,384 (GRCm38) |
T1466K |
possibly damaging |
Het |
| Adcy8 |
A |
G |
15: 64,806,704 (GRCm38) |
S467P |
probably damaging |
Het |
| Agbl4 |
T |
C |
4: 111,119,040 (GRCm38) |
V198A |
possibly damaging |
Het |
| Agpat4 |
A |
G |
17: 12,198,812 (GRCm38) |
K80R |
probably benign |
Het |
| Akap8 |
T |
C |
17: 32,316,234 (GRCm38) |
T269A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,625,027 (GRCm38) |
I925F |
possibly damaging |
Het |
| Aste1 |
A |
G |
9: 105,405,004 (GRCm38) |
Y57C |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,420,410 (GRCm38) |
S7P |
possibly damaging |
Het |
| BC051019 |
T |
A |
7: 109,720,582 (GRCm38) |
R91S |
probably null |
Het |
| Cavin2 |
C |
A |
1: 51,301,239 (GRCm38) |
N358K |
probably benign |
Het |
| Cd2 |
T |
C |
3: 101,283,039 (GRCm38) |
N196S |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,730,722 (GRCm38) |
V867I |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 106,075,063 (GRCm38) |
K545N |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,229,520 (GRCm38) |
|
probably null |
Het |
| Cyp2c65 |
A |
T |
19: 39,087,565 (GRCm38) |
|
probably null |
Het |
| Dcaf6 |
T |
C |
1: 165,330,003 (GRCm38) |
D856G |
possibly damaging |
Het |
| E130309D02Rik |
C |
T |
5: 143,307,688 (GRCm38) |
E345K |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,642,152 (GRCm38) |
I181T |
probably damaging |
Het |
| Esrp2 |
A |
G |
8: 106,132,429 (GRCm38) |
S562P |
probably damaging |
Het |
| Ffar4 |
A |
G |
19: 38,097,179 (GRCm38) |
D18G |
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,246,346 (GRCm38) |
V337I |
probably damaging |
Het |
| Gimap8 |
C |
T |
6: 48,656,647 (GRCm38) |
P467S |
possibly damaging |
Het |
| Gnl3 |
T |
A |
14: 31,016,846 (GRCm38) |
H82L |
possibly damaging |
Het |
| Grid2 |
T |
C |
6: 64,076,878 (GRCm38) |
S354P |
probably benign |
Het |
| Ighmbp2 |
T |
A |
19: 3,265,084 (GRCm38) |
T779S |
possibly damaging |
Het |
| Kif19a |
C |
A |
11: 114,783,097 (GRCm38) |
T348N |
probably damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,273,354 (GRCm38) |
N389I |
probably damaging |
Het |
| Mrps26 |
A |
G |
2: 130,563,966 (GRCm38) |
Y63C |
probably damaging |
Het |
| Myd88 |
C |
A |
9: 119,337,823 (GRCm38) |
V223F |
possibly damaging |
Het |
| Nox4 |
T |
A |
7: 87,376,242 (GRCm38) |
W526R |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,052,785 (GRCm38) |
N300K |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 25,060,452 (GRCm38) |
|
probably benign |
Het |
| Patl2 |
A |
C |
2: 122,123,802 (GRCm38) |
H429Q |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,435,854 (GRCm38) |
K18* |
probably null |
Het |
| Peg10 |
T |
A |
6: 4,754,511 (GRCm38) |
D97E |
probably benign |
Het |
| Runx1t1 |
C |
T |
4: 13,846,830 (GRCm38) |
Q205* |
probably null |
Het |
| Selenon |
T |
C |
4: 134,547,973 (GRCm38) |
K138R |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,420,080 (GRCm38) |
E369G |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,259,752 (GRCm38) |
|
probably null |
Het |
| Sptbn4 |
A |
T |
7: 27,369,391 (GRCm38) |
M499K |
probably damaging |
Het |
| Sra1 |
A |
T |
18: 36,669,959 (GRCm38) |
|
probably benign |
Het |
| Stra6 |
T |
C |
9: 58,141,146 (GRCm38) |
L174P |
probably damaging |
Het |
| Syngr1 |
T |
C |
15: 80,115,885 (GRCm38) |
Y66H |
probably damaging |
Het |
| Synpo |
G |
T |
18: 60,602,759 (GRCm38) |
S466* |
probably null |
Het |
| Tenm3 |
T |
A |
8: 48,342,308 (GRCm38) |
M595L |
probably benign |
Het |
| Tram1l1 |
G |
T |
3: 124,321,751 (GRCm38) |
V187F |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,512,604 (GRCm38) |
E529G |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,860,932 (GRCm38) |
V248A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,392 (GRCm38) |
Y880H |
probably benign |
Het |
| Vmn1r214 |
C |
T |
13: 23,035,401 (GRCm38) |
T355I |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,690,784 (GRCm38) |
K784R |
possibly damaging |
Het |
| Wrap53 |
C |
T |
11: 69,562,447 (GRCm38) |
W389* |
probably null |
Het |
| Zfp748 |
A |
G |
13: 67,541,519 (GRCm38) |
S541P |
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 |
|
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'- ATTTAAAGGCTGGCTGCTGC -3'
(R):5'- GGAGAAGCCCCTTACCACTTTC -3'
Sequencing Primer
(F):5'- GCCTCCGGCTGAGTAGC -3'
(R):5'- GCCTTTGGTATATCTGCTTACAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation