Incidental Mutation 'R6495:Tnks'
| ID |
520430 |
| 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 |
044627-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6495 (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 T
at 35307120 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 |
|
| 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 |
0.9502 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
A |
12: 112,740,148 (GRCm39) |
E502V |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,743,132 (GRCm39) |
Y321* |
probably null |
Het |
| Apob |
A |
G |
12: 8,040,394 (GRCm39) |
K577R |
probably null |
Het |
| Arfgef3 |
A |
G |
10: 18,486,950 (GRCm39) |
|
probably null |
Het |
| Asap3 |
T |
A |
4: 135,955,790 (GRCm39) |
|
probably null |
Het |
| Atp13a5 |
C |
T |
16: 29,140,440 (GRCm39) |
|
probably null |
Het |
| Bcan |
C |
A |
3: 87,903,904 (GRCm39) |
A194S |
possibly damaging |
Het |
| Cacybp |
T |
C |
1: 160,036,093 (GRCm39) |
T32A |
probably benign |
Het |
| Cd82 |
A |
G |
2: 93,260,357 (GRCm39) |
V90A |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,451,829 (GRCm39) |
R714C |
probably damaging |
Het |
| Cpb2 |
T |
C |
14: 75,512,519 (GRCm39) |
Y311H |
probably damaging |
Het |
| Cyp39a1 |
T |
C |
17: 44,002,585 (GRCm39) |
Y267H |
probably benign |
Het |
| Dnajc6 |
C |
T |
4: 101,492,262 (GRCm39) |
Q766* |
probably null |
Het |
| Dusp3 |
T |
C |
11: 101,872,653 (GRCm39) |
I48V |
probably benign |
Het |
| Eif3c |
A |
T |
7: 126,146,672 (GRCm39) |
F809I |
probably damaging |
Het |
| Exosc10 |
C |
T |
4: 148,647,329 (GRCm39) |
P213S |
probably benign |
Het |
| Galns |
C |
T |
8: 123,327,349 (GRCm39) |
G141D |
probably damaging |
Het |
| Gm3233 |
A |
T |
10: 77,594,886 (GRCm39) |
|
probably benign |
Het |
| Hadha |
A |
T |
5: 30,325,048 (GRCm39) |
L714H |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,198,763 (GRCm39) |
M123T |
probably damaging |
Het |
| Nt5dc1 |
A |
G |
10: 34,200,365 (GRCm39) |
L217P |
probably damaging |
Het |
| Nubp2 |
A |
T |
17: 25,104,577 (GRCm39) |
D54E |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,497 (GRCm39) |
R307C |
probably damaging |
Het |
| Or5b116 |
T |
A |
19: 13,422,989 (GRCm39) |
D204E |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,720 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,637,159 (GRCm39) |
C591S |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,103,409 (GRCm39) |
N239S |
probably benign |
Het |
| Pwp2 |
A |
T |
10: 78,012,961 (GRCm39) |
V549E |
probably damaging |
Het |
| Rapsn |
A |
T |
2: 90,866,973 (GRCm39) |
S92C |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,257,745 (GRCm39) |
S90G |
probably damaging |
Het |
| Rfc1 |
G |
A |
5: 65,431,158 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,381,208 (GRCm39) |
F1046L |
probably benign |
Het |
| S100a16 |
C |
T |
3: 90,449,735 (GRCm39) |
R73C |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,089,928 (GRCm39) |
Y893H |
possibly damaging |
Het |
| Stt3b |
T |
A |
9: 115,096,388 (GRCm39) |
Y253F |
possibly damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,160 (GRCm39) |
*345Q |
probably null |
Het |
| Tas2r119 |
G |
A |
15: 32,177,676 (GRCm39) |
V81I |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,128 (GRCm39) |
I22V |
probably benign |
Het |
| Tbc1d19 |
T |
G |
5: 54,046,555 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
A |
T |
6: 65,582,846 (GRCm39) |
I218F |
probably benign |
Het |
| Ttc29 |
T |
C |
8: 79,008,963 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Tut7 |
T |
C |
13: 59,947,753 (GRCm39) |
E454G |
possibly damaging |
Het |
| Uba7 |
T |
A |
9: 107,854,213 (GRCm39) |
C214* |
probably null |
Het |
| Vmn2r115 |
A |
T |
17: 23,578,572 (GRCm39) |
I682F |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,287 (GRCm39) |
M505K |
probably benign |
Het |
| Wdr19 |
A |
T |
5: 65,415,466 (GRCm39) |
T1313S |
probably benign |
Het |
| Zbtb22 |
A |
G |
17: 34,136,224 (GRCm39) |
D123G |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,813,395 (GRCm39) |
I138T |
probably benign |
Het |
| Zfp706 |
T |
C |
15: 37,004,045 (GRCm39) |
K7R |
unknown |
Het |
| Zkscan3 |
G |
A |
13: 21,572,075 (GRCm39) |
P519L |
probably 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 |
|
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 |
|
R7970:Tnks
|
UTSW |
8 |
35,323,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- CTTTATGAGACCTTCGGGGC -3'
(R):5'- ATTGAGACTCAGACTCACCAGG -3'
Sequencing Primer
(F):5'- CGGGGCTTTGCTGTCTCAC -3'
(R):5'- TCAGACTCACCAGGGAAACAGATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation