Incidental Mutation 'R7057:Tnks'
| ID |
547982 |
| 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 |
045154-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34840014 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1127
(D1127G)
|
| 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: D1127G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: D1127G
| 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 benign
Transcript: ENSMUST00000210014
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
A |
6: 40,968,247 (GRCm38) |
V220D |
probably benign |
Het |
| Ankrd1 |
T |
C |
19: 36,118,233 (GRCm38) |
E113G |
possibly damaging |
Het |
| Aqp12 |
T |
C |
1: 93,011,996 (GRCm38) |
L249P |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,645,980 (GRCm38) |
F15S |
possibly damaging |
Het |
| Bub1 |
T |
A |
2: 127,829,527 (GRCm38) |
M46L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,517,725 (GRCm38) |
E316K |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,363,493 (GRCm38) |
H22R |
probably benign |
Het |
| Ccdc157 |
A |
G |
11: 4,144,586 (GRCm38) |
V480A |
probably benign |
Het |
| Cdc42ep3 |
G |
A |
17: 79,335,523 (GRCm38) |
|
probably benign |
Het |
| Cela1 |
T |
A |
15: 100,682,893 (GRCm38) |
T161S |
possibly damaging |
Het |
| Chtf18 |
G |
T |
17: 25,721,126 (GRCm38) |
A697E |
possibly damaging |
Het |
| Cr2 |
T |
C |
1: 195,151,610 (GRCm38) |
D957G |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,807,619 (GRCm38) |
V60A |
probably damaging |
Het |
| Dazl |
CCATGATGGCGGC |
CC |
17: 50,293,406 (GRCm38) |
|
probably null |
Het |
| Dock2 |
A |
T |
11: 34,227,684 (GRCm38) |
L1824Q |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,695,217 (GRCm38) |
Y546C |
probably benign |
Het |
| Fam208a |
A |
T |
14: 27,461,651 (GRCm38) |
N689I |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,274,105 (GRCm38) |
C557Y |
unknown |
Het |
| Ftmt |
T |
A |
18: 52,332,108 (GRCm38) |
N165K |
probably benign |
Het |
| Gen1 |
A |
C |
12: 11,242,418 (GRCm38) |
S457A |
probably benign |
Het |
| Gja1 |
T |
G |
10: 56,388,033 (GRCm38) |
S163A |
probably benign |
Het |
| Gm8267 |
T |
C |
14: 44,722,024 (GRCm38) |
I194M |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,188,663 (GRCm38) |
S389R |
probably damaging |
Het |
| Gpc5 |
C |
A |
14: 115,133,242 (GRCm38) |
Q87K |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,422,649 (GRCm38) |
A3420T |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,821,723 (GRCm38) |
S817G |
probably null |
Het |
| Hus1b |
C |
T |
13: 30,947,550 (GRCm38) |
C42Y |
possibly damaging |
Het |
| Iars2 |
A |
G |
1: 185,289,367 (GRCm38) |
F913L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,295,320 (GRCm38) |
E133G |
probably damaging |
Het |
| Klhl36 |
T |
C |
8: 119,876,797 (GRCm38) |
L597P |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,180,902 (GRCm38) |
E299G |
possibly damaging |
Het |
| Mmp12 |
A |
G |
9: 7,357,840 (GRCm38) |
Y348C |
probably damaging |
Het |
| Mmp12 |
G |
A |
9: 7,369,173 (GRCm38) |
V270I |
probably benign |
Het |
| Mmp2 |
A |
G |
8: 92,831,705 (GRCm38) |
D134G |
probably damaging |
Het |
| Mrpl15 |
A |
T |
1: 4,776,642 (GRCm38) |
M237K |
probably benign |
Het |
| Ms4a6b |
G |
T |
19: 11,526,889 (GRCm38) |
V177F |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,646,079 (GRCm38) |
S2973P |
unknown |
Het |
| Olfr1219 |
A |
C |
2: 89,074,464 (GRCm38) |
I209S |
possibly damaging |
Het |
| Olfr1445 |
A |
T |
19: 12,884,642 (GRCm38) |
I254F |
probably damaging |
Het |
| Olfr1477 |
G |
T |
19: 13,502,879 (GRCm38) |
D179Y |
probably damaging |
Het |
| Olfr390 |
A |
C |
11: 73,787,148 (GRCm38) |
D70A |
possibly damaging |
Het |
| Olfr912 |
A |
T |
9: 38,581,754 (GRCm38) |
H159L |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,247,205 (GRCm38) |
I1201K |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,233,917 (GRCm38) |
M83L |
probably damaging |
Het |
| Pnlip |
G |
T |
19: 58,676,263 (GRCm38) |
D212Y |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,127,378 (GRCm38) |
N417S |
probably damaging |
Het |
| Pxylp1 |
T |
A |
9: 96,825,050 (GRCm38) |
M360L |
probably benign |
Het |
| Rbak |
G |
A |
5: 143,173,927 (GRCm38) |
T457I |
possibly damaging |
Het |
| Runx2 |
A |
T |
17: 44,814,537 (GRCm38) |
W31R |
probably null |
Het |
| Sec16a |
T |
A |
2: 26,425,265 (GRCm38) |
I1795F |
probably damaging |
Het |
| Sik2 |
A |
T |
9: 50,998,561 (GRCm38) |
I64N |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,638,397 (GRCm38) |
E924G |
possibly damaging |
Het |
| Slc30a2 |
G |
A |
4: 134,347,415 (GRCm38) |
R161Q |
probably damaging |
Het |
| Slc45a4 |
C |
A |
15: 73,587,638 (GRCm38) |
D174Y |
probably damaging |
Het |
| Slc6a6 |
A |
C |
6: 91,741,267 (GRCm38) |
E354A |
probably damaging |
Het |
| Slc8a1 |
A |
T |
17: 81,649,095 (GRCm38) |
S171R |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,804,953 (GRCm38) |
I669M |
probably benign |
Het |
| Stk39 |
C |
A |
2: 68,410,127 (GRCm38) |
A87S |
possibly damaging |
Het |
| Tbx18 |
C |
A |
9: 87,705,264 (GRCm38) |
S600I |
possibly damaging |
Het |
| Tesc |
A |
C |
5: 118,054,960 (GRCm38) |
K114Q |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,101,881 (GRCm38) |
D256G |
probably damaging |
Het |
| Tmem35b |
T |
A |
4: 127,127,886 (GRCm38) |
I45K |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,362,080 (GRCm38) |
D920V |
probably null |
Het |
| U2af1 |
A |
T |
17: 31,648,857 (GRCm38) |
D79E |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,470,917 (GRCm38) |
D331G |
probably damaging |
Het |
| Znrf3 |
G |
T |
11: 5,282,442 (GRCm38) |
P261Q |
probably benign |
Het |
| Zscan4b |
A |
T |
7: 10,901,709 (GRCm38) |
C202* |
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 |
|
|
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 |
|
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'- TCTAGCCAGGATGGTCTTGATG -3'
(R):5'- TGCCTGAGTTGCTGTATCAAG -3'
Sequencing Primer
(F):5'- TTGTAGTGAAGAGAACAGCATTTG -3'
(R):5'- GCCTGAGTTGCTGTATCAAGATTCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation