Incidental Mutation 'R7475:Tnks'
ID |
579420 |
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 |
045549-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7475 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
35296333-35432844 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 35298866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 1296
(E1296K)
|
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: E1296K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033929 Gene: ENSMUSG00000031529 AA Change: E1296K
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 |
probably benign
Transcript: ENSMUST00000209632
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210014
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (77/78) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
T |
16: 20,218,739 (GRCm39) |
N214K |
probably benign |
Het |
Abcf1 |
A |
G |
17: 36,274,459 (GRCm39) |
|
probably null |
Het |
Agxt2 |
A |
T |
15: 10,409,623 (GRCm39) |
M508L |
probably benign |
Het |
Akr1c21 |
A |
T |
13: 4,626,318 (GRCm39) |
Y114F |
probably benign |
Het |
Amz1 |
T |
C |
5: 140,729,941 (GRCm39) |
|
probably null |
Het |
Ank1 |
G |
T |
8: 23,622,646 (GRCm39) |
A1732S |
probably benign |
Het |
Atg16l1 |
T |
C |
1: 87,687,805 (GRCm39) |
S50P |
possibly damaging |
Het |
AW551984 |
A |
G |
9: 39,509,236 (GRCm39) |
S302P |
probably damaging |
Het |
Ccn6 |
T |
A |
10: 39,034,296 (GRCm39) |
Y102F |
probably damaging |
Het |
Ces3a |
T |
A |
8: 105,780,322 (GRCm39) |
|
probably null |
Het |
Dedd |
C |
A |
1: 171,167,881 (GRCm39) |
P185Q |
probably benign |
Het |
Fam186a |
A |
T |
15: 99,845,395 (GRCm39) |
V283E |
unknown |
Het |
Fat2 |
C |
A |
11: 55,194,479 (GRCm39) |
V1187F |
probably benign |
Het |
Fbxw11 |
T |
C |
11: 32,661,999 (GRCm39) |
|
probably null |
Het |
Fcgbp |
C |
T |
7: 27,802,401 (GRCm39) |
T1443I |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,814,801 (GRCm39) |
D279G |
probably benign |
Het |
Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
Gm49368 |
A |
T |
7: 127,707,154 (GRCm39) |
T661S |
possibly damaging |
Het |
Gria4 |
T |
G |
9: 4,513,330 (GRCm39) |
T260P |
probably damaging |
Het |
Gtf2ird2 |
T |
A |
5: 134,230,267 (GRCm39) |
D195E |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,496,196 (GRCm39) |
|
probably null |
Het |
Ifngr2 |
G |
A |
16: 91,354,797 (GRCm39) |
C32Y |
unknown |
Het |
Ikzf5 |
A |
T |
7: 130,993,788 (GRCm39) |
C280S |
probably benign |
Het |
Ints9 |
G |
T |
14: 65,263,914 (GRCm39) |
E395D |
probably null |
Het |
Isoc2b |
T |
C |
7: 4,854,084 (GRCm39) |
D96G |
probably benign |
Het |
Jmjd1c |
T |
G |
10: 67,061,092 (GRCm39) |
S967R |
probably benign |
Het |
Kcnj3 |
A |
T |
2: 55,327,338 (GRCm39) |
K42N |
probably benign |
Het |
Kiz |
T |
C |
2: 146,733,006 (GRCm39) |
V394A |
possibly damaging |
Het |
Knl1 |
A |
T |
2: 118,918,027 (GRCm39) |
H1795L |
probably damaging |
Het |
Lmntd2 |
A |
G |
7: 140,790,602 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
C |
A |
18: 77,500,001 (GRCm39) |
D1690E |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,234,588 (GRCm39) |
D1121G |
|
Het |
Map3k2 |
T |
C |
18: 32,333,015 (GRCm39) |
V63A |
possibly damaging |
Het |
Mcc |
G |
T |
18: 44,609,303 (GRCm39) |
A499D |
probably damaging |
Het |
Mcpt9 |
T |
A |
14: 56,264,400 (GRCm39) |
I232F |
probably damaging |
Het |
Meltf |
A |
G |
16: 31,700,756 (GRCm39) |
K92R |
probably benign |
Het |
Mff |
T |
A |
1: 82,723,159 (GRCm39) |
|
probably null |
Het |
Mrgpra3 |
T |
A |
7: 47,239,695 (GRCm39) |
Y77F |
probably damaging |
Het |
Mylk |
G |
A |
16: 34,734,446 (GRCm39) |
|
probably null |
Het |
Ndufv2 |
A |
G |
17: 66,394,532 (GRCm39) |
V111A |
possibly damaging |
Het |
Nkd2 |
T |
C |
13: 73,973,861 (GRCm39) |
E99G |
probably damaging |
Het |
Nlk |
C |
A |
11: 78,474,225 (GRCm39) |
G358V |
probably damaging |
Het |
Nnmt |
A |
T |
9: 48,503,532 (GRCm39) |
C165S |
probably damaging |
Het |
Nxpe4 |
T |
A |
9: 48,304,640 (GRCm39) |
C242* |
probably null |
Het |
Oas1b |
A |
T |
5: 120,955,705 (GRCm39) |
N162I |
probably damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,554 (GRCm39) |
I148V |
probably benign |
Het |
Otog |
A |
G |
7: 45,916,700 (GRCm39) |
N879S |
probably damaging |
Het |
Pcsk7 |
T |
A |
9: 45,838,923 (GRCm39) |
Y612N |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,368,581 (GRCm39) |
Q800* |
probably null |
Het |
Pkn3 |
T |
C |
2: 29,977,122 (GRCm39) |
S621P |
probably benign |
Het |
Polr3c |
T |
C |
3: 96,622,501 (GRCm39) |
I385V |
probably benign |
Het |
Ppp1r21 |
G |
T |
17: 88,863,031 (GRCm39) |
G257W |
probably benign |
Het |
Prkn |
A |
G |
17: 11,653,501 (GRCm39) |
D199G |
probably benign |
Het |
Pxylp1 |
C |
T |
9: 96,738,420 (GRCm39) |
|
probably null |
Het |
Rasgrp1 |
T |
C |
2: 117,116,589 (GRCm39) |
T613A |
probably benign |
Het |
Robo3 |
C |
T |
9: 37,336,674 (GRCm39) |
V387I |
probably benign |
Het |
Rxfp2 |
T |
A |
5: 149,973,046 (GRCm39) |
Y174N |
possibly damaging |
Het |
Sec24a |
T |
C |
11: 51,604,379 (GRCm39) |
M746V |
probably damaging |
Het |
Sema4f |
T |
A |
6: 82,891,355 (GRCm39) |
E571D |
possibly damaging |
Het |
Septin3 |
T |
C |
15: 82,170,657 (GRCm39) |
V217A |
probably benign |
Het |
Serpinb1b |
A |
C |
13: 33,277,548 (GRCm39) |
K260N |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,476,500 (GRCm39) |
T645A |
possibly damaging |
Het |
Sobp |
C |
T |
10: 42,897,830 (GRCm39) |
R585Q |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,082,281 (GRCm39) |
L559Q |
possibly damaging |
Het |
Srxn1 |
C |
T |
2: 151,947,573 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
A |
6: 48,432,794 (GRCm39) |
R890Q |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,518,591 (GRCm39) |
D505G |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,972,087 (GRCm39) |
I653K |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,579,121 (GRCm39) |
I667N |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
Usp46 |
T |
A |
5: 74,189,598 (GRCm39) |
K109* |
probably null |
Het |
Vmn1r191 |
A |
G |
13: 22,362,942 (GRCm39) |
C271R |
probably benign |
Het |
Zfp592 |
T |
C |
7: 80,673,200 (GRCm39) |
S55P |
probably damaging |
Het |
Zmynd15 |
T |
C |
11: 70,351,867 (GRCm39) |
S158P |
probably benign |
Het |
Zscan22 |
T |
G |
7: 12,640,664 (GRCm39) |
C303G |
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 |
|
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 |
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'- AAGACAGCTTATTTCTTGGCTGTTG -3'
(R):5'- GCTGCTGCTAGATAGAGTGC -3'
Sequencing Primer
(F):5'- GGCTGTTGGGATTTAGAGAATATTG -3'
(R):5'- AGTTCATGTGAGCAAGGTGC -3'
|
Posted On |
2019-10-07 |