Incidental Mutation 'IGL02486:Tnks'
ID 295425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnks
Ensembl Gene ENSMUSG00000031529
Gene Name tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
Synonyms mTNKS1, TANK1, tankyrase 1, 4930554K12Rik, D130072O21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02486
Quality Score
Status
Chromosome 8
Chromosomal Location 35296333-35432844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35318352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 841 (N841I)
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: N841I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: N841I

DomainStartEndE-ValueType
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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik T A X: 111,424,955 (GRCm39) N147K probably benign Het
Abtb3 C A 10: 85,476,419 (GRCm39) P900H probably damaging Het
Bcas1 T C 2: 170,248,318 (GRCm39) D201G probably damaging Het
Bmp1 T A 14: 70,742,216 (GRCm39) D333V possibly damaging Het
Capn6 T C X: 142,587,673 (GRCm39) E535G probably benign Het
Cdin1 T C 2: 115,607,487 (GRCm39) V280A possibly damaging Het
Chac2 T C 11: 30,927,625 (GRCm39) D86G probably damaging Het
Col14a1 T A 15: 55,252,092 (GRCm39) probably benign Het
Daam1 T C 12: 71,993,919 (GRCm39) probably benign Het
Elapor2 T A 5: 9,472,323 (GRCm39) V340E probably benign Het
Eno4 A G 19: 58,934,097 (GRCm39) probably null Het
Fat1 T C 8: 45,478,109 (GRCm39) V2385A probably benign Het
Ffar4 T C 19: 38,102,208 (GRCm39) I281T possibly damaging Het
Flcn C T 11: 59,691,869 (GRCm39) W260* probably null Het
Fry T G 5: 150,414,642 (GRCm39) S496A probably damaging Het
Gk T A X: 84,759,274 (GRCm39) I373F possibly damaging Het
Gpr108 T C 17: 57,542,977 (GRCm39) N528S probably damaging Het
Hey1 T A 3: 8,731,579 (GRCm39) R50W probably damaging Het
Hgf A G 5: 16,807,287 (GRCm39) Y393C probably damaging Het
Hmcn2 A T 2: 31,310,107 (GRCm39) E3260D probably damaging Het
Ift172 A G 5: 31,414,927 (GRCm39) I1365T probably damaging Het
Letmd1 A G 15: 100,372,992 (GRCm39) R31G probably damaging Het
Mak16 T C 8: 31,650,614 (GRCm39) probably benign Het
Mapkapk3 C T 9: 107,166,467 (GRCm39) G26D probably damaging Het
Mphosph8 T C 14: 56,925,844 (GRCm39) V603A possibly damaging Het
Myom1 G T 17: 71,406,939 (GRCm39) probably benign Het
Neb T A 2: 52,172,615 (GRCm39) N1564I possibly damaging Het
Nox1 C T X: 132,993,560 (GRCm39) G433D probably damaging Het
Or11h6 T C 14: 50,880,089 (GRCm39) F111S probably damaging Het
Or2n1b T A 17: 38,460,112 (GRCm39) L211Q probably damaging Het
Or51i2 T C 7: 103,689,617 (GRCm39) S205P probably damaging Het
Or52m1 A T 7: 102,289,627 (GRCm39) H58L probably damaging Het
Rcc2 T C 4: 140,437,673 (GRCm39) W135R probably damaging Het
Rgl2 A G 17: 34,154,954 (GRCm39) I205V probably damaging Het
Robo4 G A 9: 37,319,670 (GRCm39) G640E probably damaging Het
Slc26a5 A G 5: 22,051,323 (GRCm39) F64L probably damaging Het
Slc27a2 A G 2: 126,395,270 (GRCm39) T66A probably benign Het
St18 T C 1: 6,890,307 (GRCm39) S580P probably damaging Het
Syt15 G A 14: 33,944,933 (GRCm39) R160K probably damaging Het
Tmem63b A G 17: 45,984,909 (GRCm39) S200P probably damaging Het
Tnr G A 1: 159,679,664 (GRCm39) probably null Het
Unc13d A G 11: 115,960,632 (GRCm39) probably benign Het
Usp4 T C 9: 108,228,228 (GRCm39) L74P probably damaging Het
Other mutations in Tnks
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16