Incidental Mutation 'R7970:Tnks'
ID |
650559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnks
|
Ensembl Gene |
ENSMUSG00000031529 |
Gene Name |
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase |
Synonyms |
mTNKS1, TANK1, tankyrase 1, 4930554K12Rik, D130072O21Rik |
MMRRC Submission |
046013-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7970 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
35296333-35432844 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 35323080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000033929 Gene: ENSMUSG00000031529
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 |
|
Meta Mutation Damage Score |
0.9503 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (57/57) |
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 |
Acnat1 |
A |
G |
4: 49,449,266 (GRCm39) |
F167L |
probably damaging |
Het |
Acsbg2 |
A |
G |
17: 57,156,728 (GRCm39) |
Y437H |
probably benign |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Anapc2 |
T |
C |
2: 25,163,299 (GRCm39) |
S179P |
possibly damaging |
Het |
Aopep |
A |
G |
13: 63,180,974 (GRCm39) |
N312S |
probably benign |
Het |
Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
Arrdc4 |
G |
A |
7: 68,390,820 (GRCm39) |
P307S |
probably damaging |
Het |
B3gnt2 |
T |
C |
11: 22,786,255 (GRCm39) |
Y311C |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,927,820 (GRCm39) |
D453G |
probably damaging |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Dst |
G |
T |
1: 34,221,828 (GRCm39) |
C2544F |
possibly damaging |
Het |
Efhc1 |
C |
T |
1: 21,022,019 (GRCm39) |
T21M |
probably benign |
Het |
Efs |
A |
G |
14: 55,157,960 (GRCm39) |
|
probably null |
Het |
Elp1 |
A |
T |
4: 56,771,466 (GRCm39) |
Y944N |
probably damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Fam171a2 |
A |
T |
11: 102,328,692 (GRCm39) |
V689E |
possibly damaging |
Het |
Fam184a |
T |
C |
10: 53,575,421 (GRCm39) |
T63A |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,831,467 (GRCm39) |
D2897G |
unknown |
Het |
Fbxw11 |
T |
G |
11: 32,672,101 (GRCm39) |
S224A |
probably benign |
Het |
Flnc |
G |
T |
6: 29,447,525 (GRCm39) |
E1109D |
possibly damaging |
Het |
Foxn4 |
A |
G |
5: 114,401,068 (GRCm39) |
|
probably null |
Het |
Gm19410 |
A |
G |
8: 36,282,801 (GRCm39) |
E2009G |
probably benign |
Het |
Gm9958 |
A |
G |
5: 90,515,568 (GRCm39) |
|
probably benign |
Het |
Gprin3 |
C |
T |
6: 59,330,150 (GRCm39) |
R719Q |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,763,513 (GRCm39) |
I147N |
probably benign |
Het |
H2-DMb2 |
A |
G |
17: 34,369,572 (GRCm39) |
R239G |
probably benign |
Het |
Hydin |
A |
C |
8: 111,035,723 (GRCm39) |
D138A |
probably damaging |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Lgr6 |
A |
G |
1: 134,921,723 (GRCm39) |
I484T |
probably benign |
Het |
Mkrn2 |
T |
A |
6: 115,594,269 (GRCm39) |
C327S |
probably damaging |
Het |
Mnt |
C |
T |
11: 74,733,036 (GRCm39) |
A288V |
probably damaging |
Het |
Nckap5 |
T |
A |
1: 125,952,758 (GRCm39) |
K1265* |
probably null |
Het |
Ncoa3 |
A |
T |
2: 165,893,277 (GRCm39) |
H194L |
probably benign |
Het |
Ogn |
A |
T |
13: 49,762,742 (GRCm39) |
H28L |
probably benign |
Het |
Or56a41 |
C |
A |
7: 104,740,556 (GRCm39) |
V97L |
probably benign |
Het |
Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
Or9m1b |
A |
T |
2: 87,836,169 (GRCm39) |
F309I |
probably benign |
Het |
Pclo |
T |
C |
5: 14,764,492 (GRCm39) |
S1037P |
|
Het |
Phlpp1 |
T |
A |
1: 106,101,015 (GRCm39) |
Y428N |
probably damaging |
Het |
Ptpre |
A |
G |
7: 135,280,048 (GRCm39) |
T591A |
possibly damaging |
Het |
Rtn1 |
A |
T |
12: 72,355,648 (GRCm39) |
D99E |
probably benign |
Het |
Scn7a |
A |
T |
2: 66,506,173 (GRCm39) |
I1572N |
probably damaging |
Het |
Sema3a |
T |
A |
5: 13,649,375 (GRCm39) |
M708K |
possibly damaging |
Het |
Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
Slc9a2 |
T |
C |
1: 40,765,374 (GRCm39) |
Y255H |
probably damaging |
Het |
Spock3 |
T |
C |
8: 63,798,749 (GRCm39) |
F254L |
probably damaging |
Het |
St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
St6galnac2 |
T |
C |
11: 116,581,169 (GRCm39) |
D51G |
probably benign |
Het |
Stard13 |
T |
A |
5: 150,986,726 (GRCm39) |
K261N |
possibly damaging |
Het |
Tlk1 |
T |
C |
2: 70,582,644 (GRCm39) |
R162G |
possibly damaging |
Het |
Tlr2 |
T |
C |
3: 83,745,201 (GRCm39) |
D294G |
probably benign |
Het |
Trip4 |
A |
G |
9: 65,746,298 (GRCm39) |
S533P |
probably damaging |
Het |
Ttc3 |
T |
A |
16: 94,258,223 (GRCm39) |
W1674R |
probably damaging |
Het |
Tut4 |
G |
A |
4: 108,343,651 (GRCm39) |
S221N |
probably benign |
Het |
Vmn2r114 |
T |
C |
17: 23,530,186 (GRCm39) |
N74D |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,343,330 (GRCm39) |
Y570H |
possibly damaging |
Het |
|
Other mutations in Tnks |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00498:Tnks
|
APN |
8 |
35,328,843 (GRCm39) |
splice site |
probably benign |
|
IGL00901:Tnks
|
APN |
8 |
35,305,549 (GRCm39) |
nonsense |
probably null |
|
IGL01448:Tnks
|
APN |
8 |
35,307,136 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01455:Tnks
|
APN |
8 |
35,408,054 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01962:Tnks
|
APN |
8 |
35,336,678 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02088:Tnks
|
APN |
8 |
35,307,148 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02260:Tnks
|
APN |
8 |
35,310,137 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02454:Tnks
|
APN |
8 |
35,298,882 (GRCm39) |
unclassified |
probably benign |
|
IGL02486:Tnks
|
APN |
8 |
35,318,352 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02612:Tnks
|
APN |
8 |
35,316,453 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL03179:Tnks
|
APN |
8 |
35,315,824 (GRCm39) |
missense |
probably benign |
0.38 |
IGL03404:Tnks
|
APN |
8 |
35,407,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R0256:Tnks
|
UTSW |
8 |
35,328,701 (GRCm39) |
missense |
probably benign |
0.07 |
R0265:Tnks
|
UTSW |
8 |
35,307,124 (GRCm39) |
nonsense |
probably null |
|
R0334:Tnks
|
UTSW |
8 |
35,320,413 (GRCm39) |
nonsense |
probably null |
|
R0414:Tnks
|
UTSW |
8 |
35,320,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R0526:Tnks
|
UTSW |
8 |
35,320,457 (GRCm39) |
missense |
probably benign |
0.23 |
R0622:Tnks
|
UTSW |
8 |
35,407,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R1445:Tnks
|
UTSW |
8 |
35,301,757 (GRCm39) |
splice site |
probably benign |
|
R1618:Tnks
|
UTSW |
8 |
35,342,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1779:Tnks
|
UTSW |
8 |
35,324,672 (GRCm39) |
missense |
probably benign |
0.18 |
R1919:Tnks
|
UTSW |
8 |
35,342,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Tnks
|
UTSW |
8 |
35,305,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Tnks
|
UTSW |
8 |
35,318,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R2198:Tnks
|
UTSW |
8 |
35,340,221 (GRCm39) |
missense |
probably benign |
0.29 |
R2198:Tnks
|
UTSW |
8 |
35,315,803 (GRCm39) |
missense |
probably benign |
|
R2925:Tnks
|
UTSW |
8 |
35,432,815 (GRCm39) |
missense |
unknown |
|
R3828:Tnks
|
UTSW |
8 |
35,340,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R3913:Tnks
|
UTSW |
8 |
35,340,228 (GRCm39) |
missense |
probably damaging |
0.99 |
R3916:Tnks
|
UTSW |
8 |
35,320,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R3917:Tnks
|
UTSW |
8 |
35,320,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R3930:Tnks
|
UTSW |
8 |
35,407,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R4659:Tnks
|
UTSW |
8 |
35,316,465 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4760:Tnks
|
UTSW |
8 |
35,318,937 (GRCm39) |
missense |
probably benign |
0.38 |
R5091:Tnks
|
UTSW |
8 |
35,308,963 (GRCm39) |
missense |
probably benign |
0.40 |
R5419:Tnks
|
UTSW |
8 |
35,432,720 (GRCm39) |
missense |
unknown |
|
R5558:Tnks
|
UTSW |
8 |
35,432,819 (GRCm39) |
start codon destroyed |
probably null |
|
R5582:Tnks
|
UTSW |
8 |
35,408,015 (GRCm39) |
missense |
probably benign |
0.14 |
R6035:Tnks
|
UTSW |
8 |
35,385,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6035:Tnks
|
UTSW |
8 |
35,385,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6495:Tnks
|
UTSW |
8 |
35,307,120 (GRCm39) |
critical splice donor site |
probably null |
|
R6527:Tnks
|
UTSW |
8 |
35,340,247 (GRCm39) |
missense |
probably benign |
0.36 |
R6991:Tnks
|
UTSW |
8 |
35,301,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R7015:Tnks
|
UTSW |
8 |
35,305,701 (GRCm39) |
missense |
probably benign |
0.04 |
R7038:Tnks
|
UTSW |
8 |
35,318,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R7057:Tnks
|
UTSW |
8 |
35,307,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R7167:Tnks
|
UTSW |
8 |
35,316,458 (GRCm39) |
missense |
probably damaging |
0.98 |
R7250:Tnks
|
UTSW |
8 |
35,318,912 (GRCm39) |
missense |
probably damaging |
0.98 |
R7475:Tnks
|
UTSW |
8 |
35,298,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R7790:Tnks
|
UTSW |
8 |
35,328,694 (GRCm39) |
missense |
probably benign |
0.01 |
R7818:Tnks
|
UTSW |
8 |
35,340,182 (GRCm39) |
missense |
probably benign |
0.03 |
R7909:Tnks
|
UTSW |
8 |
35,407,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:Tnks
|
UTSW |
8 |
35,340,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R8343:Tnks
|
UTSW |
8 |
35,301,738 (GRCm39) |
missense |
probably benign |
0.03 |
R8870:Tnks
|
UTSW |
8 |
35,314,433 (GRCm39) |
critical splice donor site |
probably null |
|
R8936:Tnks
|
UTSW |
8 |
35,320,501 (GRCm39) |
nonsense |
probably null |
|
R9049:Tnks
|
UTSW |
8 |
35,308,932 (GRCm39) |
missense |
probably damaging |
0.96 |
R9080:Tnks
|
UTSW |
8 |
35,432,466 (GRCm39) |
small deletion |
probably benign |
|
R9182:Tnks
|
UTSW |
8 |
35,308,905 (GRCm39) |
critical splice donor site |
probably null |
|
R9211:Tnks
|
UTSW |
8 |
35,316,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R9425:Tnks
|
UTSW |
8 |
35,340,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R9649:Tnks
|
UTSW |
8 |
35,306,089 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Tnks
|
UTSW |
8 |
35,432,299 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- CGACTGTAATAGGCAAACTGTTC -3'
(R):5'- TCTGTGTCTGTGTGTACACCAC -3'
Sequencing Primer
(F):5'- GGGTGACCGATGACTCAATCTTC -3'
(R):5'- GTGTACACCACAAAAGCAACTCTG -3'
|
Posted On |
2020-09-15 |