Incidental Mutation 'R7167:Tnks'
| ID |
557990 |
| 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 |
045228-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7167 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34849304 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 887
(T887M)
|
| 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: T887M
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: T887M
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
94% (65/69) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,647,971 (GRCm38) |
V436A |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,405,501 (GRCm38) |
T111A |
possibly damaging |
Het |
| Acsbg2 |
T |
A |
17: 56,857,000 (GRCm38) |
D203V |
probably benign |
Het |
| Alpk2 |
G |
T |
18: 65,306,978 (GRCm38) |
T448K |
probably benign |
Het |
| Arhgef2 |
A |
G |
3: 88,643,872 (GRCm38) |
N780S |
possibly damaging |
Het |
| Atxn2l |
T |
C |
7: 126,499,222 (GRCm38) |
N252S |
possibly damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,863,080 (GRCm38) |
L163Q |
probably benign |
Het |
| Clca2 |
T |
C |
3: 145,097,784 (GRCm38) |
R100G |
probably benign |
Het |
| Col2a1 |
A |
G |
15: 98,000,456 (GRCm38) |
I79T |
unknown |
Het |
| Csmd1 |
A |
G |
8: 15,926,524 (GRCm38) |
V2898A |
probably benign |
Het |
| Cux1 |
G |
A |
5: 136,310,041 (GRCm38) |
|
probably null |
Het |
| Cyp2u1 |
A |
G |
3: 131,303,124 (GRCm38) |
S2P |
probably benign |
Het |
| Daam1 |
C |
A |
12: 71,988,904 (GRCm38) |
H958N |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,503,776 (GRCm38) |
V2412I |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,206,635 (GRCm38) |
R2G |
probably damaging |
Het |
| Fam159b |
A |
G |
13: 104,863,658 (GRCm38) |
V19A |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,285,001 (GRCm38) |
T1629A |
possibly damaging |
Het |
| Ftl1 |
T |
A |
7: 45,459,778 (GRCm38) |
|
probably benign |
Het |
| Fut8 |
T |
C |
12: 77,448,632 (GRCm38) |
V332A |
possibly damaging |
Het |
| Gm28363 |
T |
C |
1: 117,727,389 (GRCm38) |
S113P |
probably damaging |
Het |
| Gm6502 |
G |
A |
5: 94,317,125 (GRCm38) |
A457T |
possibly damaging |
Het |
| Hfe |
A |
T |
13: 23,708,069 (GRCm38) |
V104E |
probably damaging |
Het |
| Ifih1 |
A |
T |
2: 62,598,896 (GRCm38) |
N899K |
probably benign |
Het |
| Krt75 |
A |
G |
15: 101,568,315 (GRCm38) |
S380P |
possibly damaging |
Het |
| Meiob |
T |
G |
17: 24,836,445 (GRCm38) |
F409V |
probably damaging |
Het |
| Mkrn2os |
A |
T |
6: 115,585,513 (GRCm38) |
I163N |
probably damaging |
Het |
| Nanos1 |
G |
T |
19: 60,756,608 (GRCm38) |
G115W |
probably damaging |
Het |
| Naprt |
C |
T |
15: 75,892,612 (GRCm38) |
A276T |
probably damaging |
Het |
| Oas1e |
G |
T |
5: 120,795,422 (GRCm38) |
T26N |
probably benign |
Het |
| Olfr1179 |
A |
G |
2: 88,402,208 (GRCm38) |
V242A |
possibly damaging |
Het |
| Olfr1279 |
T |
C |
2: 111,306,448 (GRCm38) |
M81T |
probably benign |
Het |
| Olfr355 |
T |
C |
2: 36,927,521 (GRCm38) |
I198V |
probably benign |
Het |
| Olfr53 |
T |
A |
7: 140,652,553 (GRCm38) |
C191* |
probably null |
Het |
| Olfr766-ps1 |
T |
G |
10: 129,063,272 (GRCm38) |
Q245P |
probably damaging |
Het |
| Olfr792 |
T |
C |
10: 129,540,738 (GRCm38) |
L67P |
possibly damaging |
Het |
| Olfr967 |
T |
C |
9: 39,750,569 (GRCm38) |
F61S |
probably damaging |
Het |
| Oog2 |
T |
G |
4: 144,195,175 (GRCm38) |
D218E |
probably benign |
Het |
| Optn |
T |
C |
2: 5,042,483 (GRCm38) |
N207S |
probably benign |
Het |
| Oxnad1 |
G |
T |
14: 32,101,019 (GRCm38) |
E236* |
probably null |
Het |
| Pcdha3 |
G |
A |
18: 36,946,993 (GRCm38) |
A263T |
probably damaging |
Het |
| Pex13 |
A |
T |
11: 23,655,472 (GRCm38) |
W253R |
possibly damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,397,069 (GRCm38) |
E49D |
probably benign |
Het |
| Plau |
C |
A |
14: 20,839,450 (GRCm38) |
F194L |
possibly damaging |
Het |
| Ppm1n |
A |
G |
7: 19,279,741 (GRCm38) |
L95S |
probably damaging |
Het |
| Radil |
G |
T |
5: 142,485,505 (GRCm38) |
|
probably null |
Het |
| Ralgapa2 |
C |
T |
2: 146,348,454 (GRCm38) |
M1266I |
probably benign |
Het |
| Reln |
A |
T |
5: 21,942,620 (GRCm38) |
L2444Q |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,437,077 (GRCm38) |
V260A |
probably benign |
Het |
| Rnase2b |
T |
A |
14: 51,162,765 (GRCm38) |
V101E |
probably damaging |
Het |
| Rtp3 |
T |
A |
9: 110,986,704 (GRCm38) |
T198S |
probably benign |
Het |
| Smad3 |
T |
A |
9: 63,666,153 (GRCm38) |
D201V |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,660,334 (GRCm38) |
|
probably benign |
Het |
| Spata7 |
T |
G |
12: 98,664,296 (GRCm38) |
F371C |
probably damaging |
Het |
| Stag1 |
T |
G |
9: 100,945,889 (GRCm38) |
N990K |
probably benign |
Het |
| Tbx18 |
C |
T |
9: 87,707,830 (GRCm38) |
A352T |
probably damaging |
Het |
| Thada |
C |
T |
17: 84,230,963 (GRCm38) |
R1539Q |
probably benign |
Het |
| Thrap3 |
A |
C |
4: 126,185,127 (GRCm38) |
|
probably benign |
Het |
| Trap1 |
A |
C |
16: 4,052,928 (GRCm38) |
V393G |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 45,327,719 (GRCm38) |
|
probably null |
Het |
| Trrap |
G |
T |
5: 144,839,614 (GRCm38) |
G3007C |
probably benign |
Het |
| U2surp |
A |
T |
9: 95,481,673 (GRCm38) |
N611K |
probably damaging |
Het |
| Usp12 |
A |
G |
5: 146,768,935 (GRCm38) |
|
probably null |
Het |
| Vmn1r200 |
A |
G |
13: 22,395,317 (GRCm38) |
T97A |
possibly damaging |
Het |
| Vmn2r110 |
C |
T |
17: 20,574,179 (GRCm38) |
V743I |
probably benign |
Het |
| Vps50 |
C |
T |
6: 3,600,256 (GRCm38) |
T905M |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,907,789 (GRCm38) |
|
probably null |
Het |
| Zfp446 |
C |
T |
7: 12,978,122 (GRCm38) |
|
probably benign |
Het |
| Zfr |
T |
C |
15: 12,180,929 (GRCm38) |
S1012P |
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 |
|
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 |
|
R7057:Tnks
|
UTSW |
8 |
34,840,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- GGTCATGCCTGGAATCCTAATG -3'
(R):5'- GCTGAGTAGGAGACAAGTCC -3'
Sequencing Primer
(F):5'- TGCCTGGAATCCTAATGTACAAC -3'
(R):5'- GCACAGGAGAAGACTGTTTTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation