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, 4930554K12Rik, D130072O21Rik, TANK1, tankyrase 1 |
| 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 |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34853303 bp (GRCm38)
|
| 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: 137,455,224 (GRCm38) |
N230I |
possibly damaging |
Het |
| 4933427D14Rik |
G |
T |
11: 72,169,783 (GRCm38) |
Q687K |
probably damaging |
Het |
| Actrt2 |
A |
G |
4: 154,667,412 (GRCm38) |
L89P |
probably damaging |
Het |
| Adamts1 |
A |
C |
16: 85,802,372 (GRCm38) |
S113R |
probably benign |
Het |
| Agxt2 |
G |
T |
15: 10,373,862 (GRCm38) |
C118F |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,317,292 (GRCm38) |
T49I |
probably benign |
Het |
| Alk |
A |
T |
17: 71,869,753 (GRCm38) |
W1519R |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,559,805 (GRCm38) |
F12Y |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,348,740 (GRCm38) |
C131R |
probably damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,427,363 (GRCm38) |
L168P |
probably damaging |
Het |
| Blm |
G |
T |
7: 80,505,893 (GRCm38) |
S346* |
probably null |
Het |
| Ccnt2 |
T |
G |
1: 127,799,445 (GRCm38) |
C199G |
probably damaging |
Het |
| Cd151 |
A |
T |
7: 141,470,591 (GRCm38) |
H219L |
probably damaging |
Het |
| Cd200r2 |
A |
T |
16: 44,915,047 (GRCm38) |
R248S |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 106,555,446 (GRCm38) |
D822G |
possibly damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,069,770 (GRCm38) |
|
probably null |
Het |
| Cluh |
C |
A |
11: 74,665,986 (GRCm38) |
L951I |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,963,271 (GRCm38) |
|
probably null |
Het |
| Col25a1 |
C |
A |
3: 130,476,394 (GRCm38) |
P197Q |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 103,056,426 (GRCm38) |
S636R |
possibly damaging |
Het |
| Ect2l |
C |
A |
10: 18,199,940 (GRCm38) |
C66F |
possibly damaging |
Het |
| Elac2 |
T |
C |
11: 64,999,436 (GRCm38) |
M671T |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,821,748 (GRCm38) |
N143S |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,806,085 (GRCm38) |
V228A |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,505,980 (GRCm38) |
Y1084H |
probably damaging |
Het |
| Fcgr4 |
T |
A |
1: 171,029,191 (GRCm38) |
L209Q |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,296,524 (GRCm38) |
S83N |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,421,493 (GRCm38) |
M664K |
probably benign |
Het |
| Gm38394 |
T |
C |
1: 133,658,734 (GRCm38) |
I288M |
probably damaging |
Het |
| Il27ra |
A |
T |
8: 84,039,499 (GRCm38) |
S219T |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,997,797 (GRCm38) |
V800A |
probably damaging |
Het |
| Lmo7 |
T |
A |
14: 101,900,560 (GRCm38) |
D666E |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,628,295 (GRCm38) |
D520G |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 155,188,297 (GRCm38) |
M545K |
probably benign |
Het |
| Lsm5 |
T |
A |
6: 56,703,325 (GRCm38) |
D44V |
probably damaging |
Het |
| Man1c1 |
G |
T |
4: 134,569,068 (GRCm38) |
Y430* |
probably null |
Het |
| Map4 |
T |
A |
9: 110,037,278 (GRCm38) |
|
probably null |
Het |
| Megf6 |
A |
G |
4: 154,258,941 (GRCm38) |
K561R |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,322,398 (GRCm38) |
Y173H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,283,541 (GRCm38) |
S791R |
possibly damaging |
Het |
| Nol11 |
C |
A |
11: 107,184,771 (GRCm38) |
E144* |
probably null |
Het |
| Ntng2 |
C |
T |
2: 29,197,062 (GRCm38) |
R416Q |
probably damaging |
Het |
| Nxpe3 |
T |
A |
16: 55,866,517 (GRCm38) |
I43F |
possibly damaging |
Het |
| Olfr1093 |
A |
T |
2: 86,786,347 (GRCm38) |
T206S |
possibly damaging |
Het |
| Olfr1284 |
T |
A |
2: 111,379,492 (GRCm38) |
V164E |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,082,260 (GRCm38) |
I64V |
probably damaging |
Het |
| Prf1 |
G |
A |
10: 61,300,254 (GRCm38) |
R103H |
probably benign |
Het |
| Rest |
A |
G |
5: 77,281,027 (GRCm38) |
D431G |
probably damaging |
Het |
| Serpina10 |
A |
T |
12: 103,616,868 (GRCm38) |
L439Q |
probably damaging |
Het |
| Sgk3 |
T |
G |
1: 9,881,579 (GRCm38) |
V176G |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,022,733 (GRCm38) |
S188P |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,349,948 (GRCm38) |
I336T |
probably damaging |
Het |
| Ssfa2 |
A |
G |
2: 79,657,346 (GRCm38) |
D591G |
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,620,039 (GRCm38) |
|
probably null |
Het |
| Syt4 |
T |
C |
18: 31,443,746 (GRCm38) |
E185G |
possibly damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,589,804 (GRCm38) |
I784F |
probably damaging |
Het |
| Tgfbr3l |
G |
T |
8: 4,249,439 (GRCm38) |
R74L |
possibly damaging |
Het |
| Thoc7 |
A |
G |
14: 13,949,282 (GRCm38) |
M194T |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,951,392 (GRCm38) |
Y989H |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,075,818 (GRCm38) |
V134I |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,792,876 (GRCm38) |
I342F |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,411,503 (GRCm38) |
V291D |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 111,480,540 (GRCm38) |
|
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,951,992 (GRCm38) |
T1292A |
probably damaging |
Het |
| Yes1 |
T |
A |
5: 32,655,240 (GRCm38) |
C285S |
probably benign |
Het |
| Zbtb49 |
T |
C |
5: 38,213,919 (GRCm38) |
N206S |
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 |
|
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 |
|
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'- CCTTCTTGGGTGAAATGTCCCCAC -3'
(R):5'- AGAGTCTCACATAGGCTGTGCTGG -3'
Sequencing Primer
(F):5'- GGGTGAAATGTCCCCACTTAGTC -3'
(R):5'- ctgacctcctgcctttacc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation