Incidental Mutation 'R0622:Tnks'
| ID |
58733 |
| 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 |
038811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0622 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34940822 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 251
(S251P)
|
| 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: S251P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: S251P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
T |
A |
13: 30,381,681 (GRCm38) |
M243K |
probably benign |
Het |
| Ap1b1 |
A |
G |
11: 5,037,707 (GRCm38) |
M744V |
probably damaging |
Het |
| C87977 |
T |
C |
4: 144,213,013 (GRCm38) |
|
probably benign |
Het |
| Ccdc152 |
T |
C |
15: 3,298,178 (GRCm38) |
N39S |
probably damaging |
Het |
| Cd163 |
G |
A |
6: 124,317,352 (GRCm38) |
V490M |
probably damaging |
Het |
| Col6a5 |
G |
T |
9: 105,925,852 (GRCm38) |
H1305N |
unknown |
Het |
| Cpb1 |
C |
A |
3: 20,249,818 (GRCm38) |
D361Y |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,763,449 (GRCm38) |
Y1248F |
probably damaging |
Het |
| Dhdds |
G |
C |
4: 133,994,236 (GRCm38) |
F83L |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,449,788 (GRCm38) |
V161E |
possibly damaging |
Het |
| Exosc4 |
A |
G |
15: 76,327,536 (GRCm38) |
D15G |
probably damaging |
Het |
| F3 |
A |
T |
3: 121,725,019 (GRCm38) |
D44V |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,283,128 (GRCm38) |
F2253Y |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,379,024 (GRCm38) |
D650G |
possibly damaging |
Het |
| Gramd4 |
T |
A |
15: 86,091,389 (GRCm38) |
F36I |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,358,496 (GRCm38) |
A623T |
probably damaging |
Het |
| Gys1 |
A |
T |
7: 45,439,995 (GRCm38) |
T193S |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,348,625 (GRCm38) |
T3228A |
possibly damaging |
Het |
| Itpk1 |
G |
T |
12: 102,573,980 (GRCm38) |
D281E |
probably damaging |
Het |
| Kcnh7 |
A |
C |
2: 62,837,289 (GRCm38) |
|
probably null |
Het |
| Klhl29 |
A |
G |
12: 5,081,224 (GRCm38) |
L852P |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 74,796,051 (GRCm38) |
Y509C |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,728,551 (GRCm38) |
|
probably null |
Het |
| Mcpt4 |
C |
A |
14: 56,060,662 (GRCm38) |
R144L |
probably benign |
Het |
| Mia2 |
C |
T |
12: 59,131,578 (GRCm38) |
R12W |
probably damaging |
Het |
| Mrps5 |
A |
G |
2: 127,594,531 (GRCm38) |
K116R |
probably benign |
Het |
| Myrf |
G |
A |
19: 10,223,452 (GRCm38) |
P286S |
probably damaging |
Het |
| Nanp |
A |
G |
2: 151,039,244 (GRCm38) |
M28T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,212,951 (GRCm38) |
I4472V |
probably benign |
Het |
| Nfix |
A |
C |
8: 84,726,482 (GRCm38) |
N314K |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,953,968 (GRCm38) |
R849Q |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,167,740 (GRCm38) |
V786M |
probably damaging |
Het |
| Olfr1346 |
T |
C |
7: 6,474,599 (GRCm38) |
I163T |
possibly damaging |
Het |
| Olfr314 |
T |
C |
11: 58,786,341 (GRCm38) |
S36P |
probably damaging |
Het |
| Olfr600 |
A |
G |
7: 103,346,857 (GRCm38) |
S24P |
probably damaging |
Het |
| Olfr898 |
A |
G |
9: 38,349,371 (GRCm38) |
N96S |
possibly damaging |
Het |
| Pdia4 |
A |
T |
6: 47,806,518 (GRCm38) |
F197Y |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,715,852 (GRCm38) |
D432G |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,436,552 (GRCm38) |
E116G |
probably damaging |
Het |
| Polq |
T |
C |
16: 37,060,993 (GRCm38) |
V1173A |
probably benign |
Het |
| Pou2f3 |
C |
T |
9: 43,125,119 (GRCm38) |
R423H |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 24,869,249 (GRCm38) |
N246S |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,477,860 (GRCm38) |
S388G |
probably benign |
Het |
| Ralgps1 |
G |
A |
2: 33,174,447 (GRCm38) |
R238* |
probably null |
Het |
| Rfx2 |
T |
C |
17: 56,777,071 (GRCm38) |
D657G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,662,555 (GRCm38) |
F3724S |
probably damaging |
Het |
| Sh2d5 |
T |
C |
4: 138,259,228 (GRCm38) |
S421P |
probably damaging |
Het |
| Slc17a2 |
C |
A |
13: 23,812,611 (GRCm38) |
T33K |
probably damaging |
Het |
| St8sia5 |
A |
G |
18: 77,246,113 (GRCm38) |
T156A |
probably damaging |
Het |
| Stk32c |
T |
C |
7: 139,188,110 (GRCm38) |
D85G |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,718,729 (GRCm38) |
L3864Q |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,346,604 (GRCm38) |
Y189H |
probably damaging |
Het |
| Vmn1r77 |
T |
G |
7: 12,041,388 (GRCm38) |
F30L |
probably benign |
Het |
| Wasf3 |
A |
G |
5: 146,466,792 (GRCm38) |
|
probably null |
Het |
| Wdr90 |
C |
T |
17: 25,855,658 (GRCm38) |
C603Y |
probably damaging |
Het |
| Zdhhc25 |
T |
C |
15: 88,601,107 (GRCm38) |
L215P |
probably damaging |
Het |
| Zeb1 |
C |
T |
18: 5,759,123 (GRCm38) |
Q140* |
probably null |
Het |
| Zfp677 |
C |
T |
17: 21,397,700 (GRCm38) |
L340F |
probably benign |
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 |
|
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 |
|
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'- TCACAGTGAAAGCACAAGAGTGACC -3'
(R):5'- ACTCAGTAGCAAGGAGCATTGCC -3'
Sequencing Primer
(F):5'- GCACAAGAGTGACCTTAAGTTAAAAC -3'
(R):5'- CAAGGAGCATTGCCCTTTTGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation