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, TANK1, tankyrase 1, 4930554K12Rik, D130072O21Rik |
| 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 |
35296333-35432844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35316458 bp (GRCm39)
|
| 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: 121,624,930 (GRCm39) |
V436A |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,224,251 (GRCm39) |
T111A |
possibly damaging |
Het |
| Acsbg2 |
T |
A |
17: 57,164,000 (GRCm39) |
D203V |
probably benign |
Het |
| Alpk2 |
G |
T |
18: 65,440,049 (GRCm39) |
T448K |
probably benign |
Het |
| Arhgef2 |
A |
G |
3: 88,551,179 (GRCm39) |
N780S |
possibly damaging |
Het |
| Atxn2l |
T |
C |
7: 126,098,394 (GRCm39) |
N252S |
possibly damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,568,841 (GRCm39) |
L163Q |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,803,545 (GRCm39) |
R100G |
probably benign |
Het |
| Col2a1 |
A |
G |
15: 97,898,337 (GRCm39) |
I79T |
unknown |
Het |
| Csmd1 |
A |
G |
8: 15,976,524 (GRCm39) |
V2898A |
probably benign |
Het |
| Cux1 |
G |
A |
5: 136,338,895 (GRCm39) |
|
probably null |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,773 (GRCm39) |
S2P |
probably benign |
Het |
| Daam1 |
C |
A |
12: 72,035,678 (GRCm39) |
H958N |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,542,935 (GRCm39) |
V2412I |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,108,133 (GRCm39) |
R2G |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,175,827 (GRCm39) |
T1629A |
possibly damaging |
Het |
| Ftl1 |
T |
A |
7: 45,109,202 (GRCm39) |
|
probably benign |
Het |
| Fut8 |
T |
C |
12: 77,495,406 (GRCm39) |
V332A |
possibly damaging |
Het |
| Gm28363 |
T |
C |
1: 117,655,119 (GRCm39) |
S113P |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,892,052 (GRCm39) |
V104E |
probably damaging |
Het |
| Ifih1 |
A |
T |
2: 62,429,240 (GRCm39) |
N899K |
probably benign |
Het |
| Krt75 |
A |
G |
15: 101,476,750 (GRCm39) |
S380P |
possibly damaging |
Het |
| Meiob |
T |
G |
17: 25,055,419 (GRCm39) |
F409V |
probably damaging |
Het |
| Mkrn2os |
A |
T |
6: 115,562,474 (GRCm39) |
I163N |
probably damaging |
Het |
| Nanos1 |
G |
T |
19: 60,745,046 (GRCm39) |
G115W |
probably damaging |
Het |
| Naprt |
C |
T |
15: 75,764,461 (GRCm39) |
A276T |
probably damaging |
Het |
| Oas1e |
G |
T |
5: 120,933,487 (GRCm39) |
T26N |
probably benign |
Het |
| Oog2 |
T |
G |
4: 143,921,745 (GRCm39) |
D218E |
probably benign |
Het |
| Optn |
T |
C |
2: 5,047,294 (GRCm39) |
N207S |
probably benign |
Het |
| Or13a20 |
T |
A |
7: 140,232,466 (GRCm39) |
C191* |
probably null |
Het |
| Or1l8 |
T |
C |
2: 36,817,533 (GRCm39) |
I198V |
probably benign |
Het |
| Or4g16 |
T |
C |
2: 111,136,793 (GRCm39) |
M81T |
probably benign |
Het |
| Or4p18 |
A |
G |
2: 88,232,552 (GRCm39) |
V242A |
possibly damaging |
Het |
| Or6c63-ps1 |
T |
G |
10: 128,899,141 (GRCm39) |
Q245P |
probably damaging |
Het |
| Or6c66b |
T |
C |
10: 129,376,607 (GRCm39) |
L67P |
possibly damaging |
Het |
| Or8g4 |
T |
C |
9: 39,661,865 (GRCm39) |
F61S |
probably damaging |
Het |
| Oxnad1 |
G |
T |
14: 31,822,976 (GRCm39) |
E236* |
probably null |
Het |
| Pcdha3 |
G |
A |
18: 37,080,046 (GRCm39) |
A263T |
probably damaging |
Het |
| Pex13 |
A |
T |
11: 23,605,472 (GRCm39) |
W253R |
possibly damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,374,433 (GRCm39) |
E49D |
probably benign |
Het |
| Plau |
C |
A |
14: 20,889,518 (GRCm39) |
F194L |
possibly damaging |
Het |
| Ppm1n |
A |
G |
7: 19,013,666 (GRCm39) |
L95S |
probably damaging |
Het |
| Pramel40 |
G |
A |
5: 94,464,984 (GRCm39) |
A457T |
possibly damaging |
Het |
| Radil |
G |
T |
5: 142,471,260 (GRCm39) |
|
probably null |
Het |
| Ralgapa2 |
C |
T |
2: 146,190,374 (GRCm39) |
M1266I |
probably benign |
Het |
| Reln |
A |
T |
5: 22,147,618 (GRCm39) |
L2444Q |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,300,473 (GRCm39) |
V260A |
probably benign |
Het |
| Rnase2b |
T |
A |
14: 51,400,222 (GRCm39) |
V101E |
probably damaging |
Het |
| Rtp3 |
T |
A |
9: 110,815,772 (GRCm39) |
T198S |
probably benign |
Het |
| Shisal2b |
A |
G |
13: 105,000,166 (GRCm39) |
V19A |
probably damaging |
Het |
| Smad3 |
T |
A |
9: 63,573,435 (GRCm39) |
D201V |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Spata7 |
T |
G |
12: 98,630,555 (GRCm39) |
F371C |
probably damaging |
Het |
| Stag1 |
T |
G |
9: 100,827,942 (GRCm39) |
N990K |
probably benign |
Het |
| Tbx18 |
C |
T |
9: 87,589,883 (GRCm39) |
A352T |
probably damaging |
Het |
| Thada |
C |
T |
17: 84,538,391 (GRCm39) |
R1539Q |
probably benign |
Het |
| Thrap3 |
A |
C |
4: 126,078,920 (GRCm39) |
|
probably benign |
Het |
| Trap1 |
A |
C |
16: 3,870,792 (GRCm39) |
V393G |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,977,143 (GRCm39) |
|
probably null |
Het |
| Trrap |
G |
T |
5: 144,776,424 (GRCm39) |
G3007C |
probably benign |
Het |
| U2surp |
A |
T |
9: 95,363,726 (GRCm39) |
N611K |
probably damaging |
Het |
| Usp12 |
A |
G |
5: 146,705,745 (GRCm39) |
|
probably null |
Het |
| Vmn1r200 |
A |
G |
13: 22,579,487 (GRCm39) |
T97A |
possibly damaging |
Het |
| Vmn2r110 |
C |
T |
17: 20,794,441 (GRCm39) |
V743I |
probably benign |
Het |
| Vps50 |
C |
T |
6: 3,600,256 (GRCm39) |
T905M |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,736,855 (GRCm39) |
|
probably null |
Het |
| Zfp446 |
C |
T |
7: 12,712,049 (GRCm39) |
|
probably benign |
Het |
| Zfr |
T |
C |
15: 12,181,015 (GRCm39) |
S1012P |
probably benign |
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 |
|
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'- GGTCATGCCTGGAATCCTAATG -3'
(R):5'- GCTGAGTAGGAGACAAGTCC -3'
Sequencing Primer
(F):5'- TGCCTGGAATCCTAATGTACAAC -3'
(R):5'- GCACAGGAGAAGACTGTTTTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation