Incidental Mutation 'R0526:Tnks'
| ID |
48928 |
| 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 |
038719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0526 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
35296333-35432844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35320457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 738
(V738E)
|
| 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 benign
Transcript: ENSMUST00000033929
AA Change: V738E
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: V738E
| 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 |
noncoding transcript
Transcript: ENSMUST00000209904
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,182,535 (GRCm39) |
N230I |
possibly damaging |
Het |
| 4933427D14Rik |
G |
T |
11: 72,060,609 (GRCm39) |
Q687K |
probably damaging |
Het |
| Actrt2 |
A |
G |
4: 154,751,869 (GRCm39) |
L89P |
probably damaging |
Het |
| Adamts1 |
A |
C |
16: 85,599,260 (GRCm39) |
S113R |
probably benign |
Het |
| Agxt2 |
G |
T |
15: 10,373,948 (GRCm39) |
C118F |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,536,266 (GRCm39) |
T49I |
probably benign |
Het |
| Alk |
A |
T |
17: 72,176,748 (GRCm39) |
W1519R |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,536,803 (GRCm39) |
F12Y |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,167,558 (GRCm39) |
C131R |
probably damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,269,283 (GRCm39) |
L168P |
probably damaging |
Het |
| Blm |
G |
T |
7: 80,155,641 (GRCm39) |
S346* |
probably null |
Het |
| Ccnt2 |
T |
G |
1: 127,727,182 (GRCm39) |
C199G |
probably damaging |
Het |
| Cd151 |
A |
T |
7: 141,050,504 (GRCm39) |
H219L |
probably damaging |
Het |
| Cd200r2 |
A |
T |
16: 44,735,410 (GRCm39) |
R248S |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,282,078 (GRCm39) |
D822G |
possibly damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,046,729 (GRCm39) |
|
probably null |
Het |
| Cluh |
C |
A |
11: 74,556,812 (GRCm39) |
L951I |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,562,494 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
C |
A |
3: 130,270,043 (GRCm39) |
P197Q |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,963,742 (GRCm39) |
S636R |
possibly damaging |
Het |
| Ect2l |
C |
A |
10: 18,075,688 (GRCm39) |
C66F |
possibly damaging |
Het |
| Elac2 |
T |
C |
11: 64,890,262 (GRCm39) |
M671T |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,969,614 (GRCm39) |
N143S |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,636,430 (GRCm39) |
V228A |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,639,051 (GRCm39) |
Y1084H |
probably damaging |
Het |
| Fcgr4 |
T |
A |
1: 170,856,760 (GRCm39) |
L209Q |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,450,000 (GRCm39) |
S83N |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,349,215 (GRCm39) |
M664K |
probably benign |
Het |
| Il27ra |
A |
T |
8: 84,766,128 (GRCm39) |
S219T |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,487,690 (GRCm39) |
D591G |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,826,862 (GRCm39) |
V800A |
probably damaging |
Het |
| Lmo7 |
T |
A |
14: 102,137,996 (GRCm39) |
D666E |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,678,295 (GRCm39) |
D520G |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 154,893,934 (GRCm39) |
M545K |
probably benign |
Het |
| Lsm5 |
T |
A |
6: 56,680,310 (GRCm39) |
D44V |
probably damaging |
Het |
| Man1c1 |
G |
T |
4: 134,296,379 (GRCm39) |
Y430* |
probably null |
Het |
| Map4 |
T |
A |
9: 109,866,346 (GRCm39) |
|
probably null |
Het |
| Megf6 |
A |
G |
4: 154,343,398 (GRCm39) |
K561R |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,229,680 (GRCm39) |
Y173H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,190,823 (GRCm39) |
S791R |
possibly damaging |
Het |
| Nol11 |
C |
A |
11: 107,075,597 (GRCm39) |
E144* |
probably null |
Het |
| Ntng2 |
C |
T |
2: 29,087,074 (GRCm39) |
R416Q |
probably damaging |
Het |
| Nxpe3 |
T |
A |
16: 55,686,880 (GRCm39) |
I43F |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,837 (GRCm39) |
V164E |
possibly damaging |
Het |
| Or5t5 |
A |
T |
2: 86,616,691 (GRCm39) |
T206S |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,808,999 (GRCm39) |
I64V |
probably damaging |
Het |
| Prf1 |
G |
A |
10: 61,136,033 (GRCm39) |
R103H |
probably benign |
Het |
| Rest |
A |
G |
5: 77,428,874 (GRCm39) |
D431G |
probably damaging |
Het |
| Serpina10 |
A |
T |
12: 103,583,127 (GRCm39) |
L439Q |
probably damaging |
Het |
| Sgk3 |
T |
G |
1: 9,951,804 (GRCm39) |
V176G |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,000,454 (GRCm39) |
S188P |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,338,392 (GRCm39) |
I336T |
probably damaging |
Het |
| Strip1 |
C |
T |
3: 107,527,355 (GRCm39) |
|
probably null |
Het |
| Syt4 |
T |
C |
18: 31,576,799 (GRCm39) |
E185G |
possibly damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tgfbr3l |
G |
T |
8: 4,299,439 (GRCm39) |
R74L |
possibly damaging |
Het |
| Thoc7 |
A |
G |
14: 13,949,282 (GRCm38) |
M194T |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,879,129 (GRCm39) |
Y989H |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,233,161 (GRCm39) |
V134I |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,770,240 (GRCm39) |
I342F |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,060,711 (GRCm39) |
V291D |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,928,953 (GRCm39) |
T1292A |
probably damaging |
Het |
| Yes1 |
T |
A |
5: 32,812,584 (GRCm39) |
C285S |
probably benign |
Het |
| Zbed6 |
T |
C |
1: 133,586,472 (GRCm39) |
I288M |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,371,263 (GRCm39) |
N206S |
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 |
|
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 |
|
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'- CCTTCTTGGGTGAAATGTCCCCAC -3'
(R):5'- AGAGTCTCACATAGGCTGTGCTGG -3'
Sequencing Primer
(F):5'- GGGTGAAATGTCCCCACTTAGTC -3'
(R):5'- ctgacctcctgcctttacc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation