Incidental Mutation 'R5558:Tnks'
| ID |
436409 |
| 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 |
043115-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5558 (G1)
|
| Quality Score |
110 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 34965665 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| 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 null
Transcript: ENSMUST00000033929
AA Change: M1V
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: M1V
| 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: ENSMUST00000067161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210951
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810403A07Rik |
A |
C |
3: 88,693,096 (GRCm38) |
H164P |
probably damaging |
Het |
| Abcg4 |
T |
C |
9: 44,281,408 (GRCm38) |
K177E |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,459,017 (GRCm38) |
T378A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,482,580 (GRCm38) |
V779A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,641,329 (GRCm38) |
Q2786* |
probably null |
Het |
| Arhgef28 |
A |
C |
13: 97,961,460 (GRCm38) |
L882R |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 119,028,949 (GRCm38) |
T447A |
probably benign |
Het |
| Ch25h |
A |
G |
19: 34,474,463 (GRCm38) |
W222R |
probably damaging |
Het |
| Chsy3 |
T |
G |
18: 59,176,397 (GRCm38) |
S241A |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,892,001 (GRCm38) |
S345P |
possibly damaging |
Het |
| Cyp4a30b |
C |
A |
4: 115,458,866 (GRCm38) |
D291E |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,759,540 (GRCm38) |
Y419C |
probably damaging |
Het |
| Eif3d |
G |
A |
15: 77,961,847 (GRCm38) |
R359C |
probably damaging |
Het |
| Elavl4 |
C |
A |
4: 110,206,603 (GRCm38) |
G267V |
probably benign |
Het |
| Gars |
T |
C |
6: 55,065,607 (GRCm38) |
S442P |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,466,764 (GRCm38) |
R578Q |
probably null |
Het |
| Hist1h4d |
C |
A |
13: 23,581,796 (GRCm38) |
N65K |
possibly damaging |
Het |
| Ifitm6 |
T |
C |
7: 141,016,072 (GRCm38) |
I103V |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,386,531 (GRCm38) |
I241N |
possibly damaging |
Het |
| Iqce |
A |
G |
5: 140,671,805 (GRCm38) |
|
probably null |
Het |
| Kif20b |
C |
A |
19: 34,951,549 (GRCm38) |
Q1192K |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,504,751 (GRCm38) |
N298D |
probably benign |
Het |
| Lca5 |
A |
T |
9: 83,401,743 (GRCm38) |
S246T |
probably damaging |
Het |
| Mrps5 |
G |
A |
2: 127,602,435 (GRCm38) |
G330S |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 49,069,537 (GRCm38) |
R164C |
probably benign |
Het |
| Myo19 |
C |
G |
11: 84,910,448 (GRCm38) |
P940R |
probably damaging |
Het |
| Olfr1406 |
T |
C |
1: 173,184,018 (GRCm38) |
R139G |
probably benign |
Het |
| Olfr1445 |
T |
C |
19: 12,884,387 (GRCm38) |
F169L |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,384,168 (GRCm38) |
D920G |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,824,451 (GRCm38) |
|
probably null |
Het |
| Phactr4 |
T |
C |
4: 132,378,455 (GRCm38) |
E137G |
probably damaging |
Het |
| Pkn1 |
C |
T |
8: 83,684,722 (GRCm38) |
V239M |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 140,039,755 (GRCm38) |
D20V |
probably damaging |
Het |
| Prkca |
A |
T |
11: 107,981,647 (GRCm38) |
I429N |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,304,445 (GRCm38) |
Y251N |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,444,402 (GRCm38) |
F31S |
probably damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,151,975 (GRCm38) |
E932V |
probably damaging |
Het |
| Rilp |
A |
G |
11: 75,511,425 (GRCm38) |
Y250C |
probably damaging |
Het |
| Sclt1 |
A |
G |
3: 41,661,590 (GRCm38) |
I474T |
probably benign |
Het |
| Slc14a2 |
T |
A |
18: 78,159,166 (GRCm38) |
D583V |
possibly damaging |
Het |
| Slc30a4 |
A |
G |
2: 122,686,983 (GRCm38) |
I324T |
probably damaging |
Het |
| Slc6a5 |
G |
A |
7: 49,927,573 (GRCm38) |
V326I |
probably benign |
Het |
| Slco1c1 |
C |
T |
6: 141,567,496 (GRCm38) |
T617I |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,414,271 (GRCm38) |
S442P |
possibly damaging |
Het |
| Sys1 |
G |
T |
2: 164,464,509 (GRCm38) |
A128S |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm38) |
G252R |
probably benign |
Het |
| Tmed5 |
A |
G |
5: 108,124,596 (GRCm38) |
I212T |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,898,268 (GRCm38) |
H452R |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,978,573 (GRCm38) |
V1133A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,725,051 (GRCm38) |
I30537F |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,797,827 (GRCm38) |
V3271A |
possibly damaging |
Het |
| Utp20 |
C |
G |
10: 88,751,467 (GRCm38) |
G2489R |
probably damaging |
Het |
| Vmn1r70 |
A |
T |
7: 10,634,475 (GRCm38) |
S278C |
probably benign |
Het |
| Wdpcp |
G |
A |
11: 21,711,732 (GRCm38) |
A335T |
probably benign |
Het |
| Zc3h18 |
G |
T |
8: 122,386,920 (GRCm38) |
R217L |
probably damaging |
Het |
| Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,036,509 (GRCm38) |
|
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,302,187 (GRCm38) |
T210I |
possibly 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 |
|
|
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'- AAAGTTGCCGTGGAGCCAAC -3'
(R):5'- TTTCAAATCTGCCCAGCCAG -3'
Sequencing Primer
(F):5'- ACTCTCCGCTAAGCTCGAG -3'
(R):5'- GCCCGTCGCTCCACTACTAAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation