Incidental Mutation 'R5582:Tnks'
| ID |
438508 |
| 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 |
043136-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5582 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
35296333-35432844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35408015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 238
(R238C)
|
| 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: R238C
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: R238C
| 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 |
|
| Meta Mutation Damage Score |
0.6666 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (61/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,586,639 (GRCm39) |
|
probably null |
Het |
| Agxt2 |
A |
G |
15: 10,399,245 (GRCm39) |
D444G |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,750 (GRCm39) |
R96L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,954 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,060,788 (GRCm39) |
Y3090C |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,043,719 (GRCm39) |
S647P |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,076,979 (GRCm39) |
Y372C |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,965,573 (GRCm39) |
|
probably null |
Het |
| Cdk5rap1 |
T |
A |
2: 154,187,894 (GRCm39) |
E477D |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,946,677 (GRCm39) |
|
probably benign |
Het |
| Chdh |
A |
G |
14: 29,758,816 (GRCm39) |
Y587C |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 111,015,901 (GRCm39) |
V472A |
probably damaging |
Het |
| Clasrp |
A |
C |
7: 19,320,781 (GRCm39) |
I326S |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,342 (GRCm39) |
Q334L |
possibly damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,319 (GRCm39) |
|
probably null |
Het |
| Entpd7 |
T |
C |
19: 43,693,433 (GRCm39) |
I171T |
probably damaging |
Het |
| Fosl1 |
T |
C |
19: 5,505,295 (GRCm39) |
|
probably benign |
Het |
| Gm6124 |
A |
G |
7: 38,869,622 (GRCm39) |
|
noncoding transcript |
Het |
| H3f3a |
A |
T |
1: 180,637,650 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
AGAGGAGGAGGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGGAGGAGGAGG |
12: 8,374,048 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
CCAGGGC |
CC |
7: 79,748,087 (GRCm39) |
|
probably null |
Het |
| Igkv3-7 |
A |
G |
6: 70,584,990 (GRCm39) |
Y110C |
probably damaging |
Het |
| Ints9 |
C |
T |
14: 65,266,345 (GRCm39) |
T399M |
possibly damaging |
Het |
| Kctd19 |
G |
A |
8: 106,135,075 (GRCm39) |
T62M |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,643 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,990,802 (GRCm39) |
|
probably null |
Het |
| Or11h23 |
T |
C |
14: 50,948,425 (GRCm39) |
Y213H |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,343,233 (GRCm39) |
I212T |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,230,165 (GRCm39) |
M14K |
unknown |
Het |
| Pibf1 |
C |
T |
14: 99,374,566 (GRCm39) |
A335V |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,767,522 (GRCm39) |
L1256* |
probably null |
Het |
| Plbd2 |
T |
C |
5: 120,631,171 (GRCm39) |
E202G |
probably benign |
Het |
| Ppp1r37 |
A |
G |
7: 19,266,219 (GRCm39) |
S516P |
probably damaging |
Het |
| Ppt2 |
G |
A |
17: 34,836,373 (GRCm39) |
T229M |
probably damaging |
Het |
| Prr14 |
A |
T |
7: 127,075,569 (GRCm39) |
I526F |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,820,575 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,395,373 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
T |
A |
9: 79,997,158 (GRCm39) |
D57E |
possibly damaging |
Het |
| Setd5 |
T |
C |
6: 113,091,886 (GRCm39) |
Y217H |
probably damaging |
Het |
| Sgcg |
T |
C |
14: 61,462,754 (GRCm39) |
T198A |
probably damaging |
Het |
| Sipa1 |
C |
T |
19: 5,704,729 (GRCm39) |
G622D |
probably benign |
Het |
| Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,737 (GRCm39) |
P345Q |
probably benign |
Het |
| Slx4 |
T |
C |
16: 3,803,652 (GRCm39) |
D1054G |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,210,083 (GRCm39) |
T898S |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,565,284 (GRCm39) |
P1209S |
probably damaging |
Het |
| Tmem63b |
C |
A |
17: 45,978,689 (GRCm39) |
V294L |
probably benign |
Het |
| Tsn |
G |
A |
1: 118,232,944 (GRCm39) |
T120I |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,731,814 (GRCm39) |
F479I |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,745,888 (GRCm39) |
M849V |
probably benign |
Het |
| Usp13 |
T |
C |
3: 32,965,738 (GRCm39) |
S574P |
probably damaging |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,435 (GRCm39) |
Y20H |
probably damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,204,972 (GRCm39) |
|
probably benign |
Het |
| Zfp780b |
T |
A |
7: 27,664,252 (GRCm39) |
N101I |
probably damaging |
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 |
|
|
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'- AGGCAGCACTGGTTACATCAC -3'
(R):5'- CCTTTTGGAAATGGGAAGGTCAG -3'
Sequencing Primer
(F):5'- CTGGTTACATCACAGTGAAAGC -3'
(R):5'- AGGTCAGTTTGAACAAAGCTAATG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation