Incidental Mutation 'IGL02088:Tnks'
ID279321
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnks
Ensembl Gene ENSMUSG00000031529
Gene Nametankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
SynonymsmTNKS1, 4930554K12Rik, D130072O21Rik, TANK1, tankyrase 1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02088
Quality Score
Status
Chromosome8
Chromosomal Location34826460-34965690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34839994 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1134 (I1134F)
Ref Sequence ENSEMBL: ENSMUSP00000033929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033929]
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 possibly damaging
Transcript: ENSMUST00000033929
AA Change: I1134F

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: I1134F

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 probably benign
Transcript: ENSMUST00000209632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209904
Predicted Effect probably benign
Transcript: ENSMUST00000210014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210870
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 T C 9: 104,098,881 E289G probably damaging Het
Aldh1l1 A T 6: 90,580,590 probably benign Het
Ampd3 T A 7: 110,793,686 D220E probably benign Het
Ank3 T C 10: 69,999,373 V136A probably damaging Het
Atg14 T C 14: 47,542,859 K486R probably benign Het
Axin1 A G 17: 26,188,695 I637V probably benign Het
Axin2 T A 11: 108,923,616 F110Y probably damaging Het
Cdh12 A T 15: 21,480,339 K214* probably null Het
Cfap44 A C 16: 44,451,628 E1248A possibly damaging Het
Cryba4 A G 5: 112,251,009 probably benign Het
Cyp2c68 A G 19: 39,703,521 probably benign Het
Dnah5 G T 15: 28,459,118 probably null Het
Dok3 A T 13: 55,524,370 V165E probably damaging Het
Etl4 A T 2: 20,806,548 R1147S probably damaging Het
Fam212a A G 9: 107,984,457 F220S probably damaging Het
Fbxl6 G T 15: 76,535,906 C502* probably null Het
Gp2 A T 7: 119,454,469 Y90N probably damaging Het
H1fnt G T 15: 98,257,178 T30K probably damaging Het
Itfg2 A G 6: 128,411,606 V306A probably benign Het
Lrig2 T C 3: 104,467,108 Y219C probably damaging Het
Mccc1 A T 3: 35,974,202 I485N probably damaging Het
Mettl25 A G 10: 105,823,250 F391L probably damaging Het
Muc19 C T 15: 91,891,168 noncoding transcript Het
Muc2 T C 7: 141,751,504 C182R probably damaging Het
Nlrp4g T C 9: 124,350,453 noncoding transcript Het
Nms A G 1: 38,939,277 probably benign Het
Nr3c1 T C 18: 39,424,391 N503S probably damaging Het
Olfr1495 T C 19: 13,768,666 F108S probably damaging Het
Olfr186 A G 16: 59,027,052 L285P probably damaging Het
Olfr828 C T 9: 18,815,923 V124I probably benign Het
Pcdhb5 G A 18: 37,321,959 S464N probably benign Het
Pcgf6 T C 19: 47,050,804 T6A unknown Het
Rdx A G 9: 52,060,883 probably benign Het
Shmt1 T C 11: 60,789,653 T403A probably damaging Het
Slc35d1 A G 4: 103,211,325 F148L probably benign Het
Tk1 A G 11: 117,824,665 probably benign Het
Ttn A G 2: 76,726,691 V29990A probably damaging Het
Zcchc11 A G 4: 108,512,218 probably benign Het
Other mutations in Tnks
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Tnks APN 8 34861689 splice site probably benign
IGL00901:Tnks APN 8 34838395 nonsense probably null
IGL01448:Tnks APN 8 34839982 missense probably damaging 1.00
IGL01455:Tnks APN 8 34940900 missense probably damaging 0.99
IGL01962:Tnks APN 8 34869524 missense probably damaging 1.00
IGL02260:Tnks APN 8 34842983 missense probably damaging 0.99
IGL02454:Tnks APN 8 34831728 unclassified probably benign
IGL02486:Tnks APN 8 34851198 missense probably damaging 1.00
IGL02612:Tnks APN 8 34849299 missense possibly damaging 0.48
IGL03179:Tnks APN 8 34848670 missense probably benign 0.38
IGL03404:Tnks APN 8 34940704 missense probably damaging 1.00
R0256:Tnks UTSW 8 34861547 missense probably benign 0.07
R0265:Tnks UTSW 8 34839970 nonsense probably null
R0334:Tnks UTSW 8 34853259 nonsense probably null
R0414:Tnks UTSW 8 34853309 missense probably damaging 1.00
R0526:Tnks UTSW 8 34853303 missense probably benign 0.23
R0622:Tnks UTSW 8 34940822 missense probably damaging 1.00
R1445:Tnks UTSW 8 34834603 splice site probably benign
R1618:Tnks UTSW 8 34875276 missense probably damaging 1.00
R1779:Tnks UTSW 8 34857518 missense probably benign 0.18
R1919:Tnks UTSW 8 34875232 missense probably damaging 1.00
R1938:Tnks UTSW 8 34838530 missense probably damaging 1.00
R2018:Tnks UTSW 8 34851106 missense probably damaging 1.00
R2198:Tnks UTSW 8 34848649 missense probably benign
R2198:Tnks UTSW 8 34873067 missense probably benign 0.29
R2925:Tnks UTSW 8 34965661 missense unknown
R3828:Tnks UTSW 8 34873178 missense probably damaging 1.00
R3913:Tnks UTSW 8 34873074 missense probably damaging 0.99
R3916:Tnks UTSW 8 34853361 missense probably damaging 1.00
R3917:Tnks UTSW 8 34853361 missense probably damaging 1.00
R3930:Tnks UTSW 8 34940812 missense probably damaging 1.00
R4659:Tnks UTSW 8 34849311 missense possibly damaging 0.53
R4760:Tnks UTSW 8 34851783 missense probably benign 0.38
R5091:Tnks UTSW 8 34841809 missense probably benign 0.40
R5419:Tnks UTSW 8 34965566 missense unknown
R5558:Tnks UTSW 8 34965665 start codon destroyed probably null
R5582:Tnks UTSW 8 34940861 missense probably benign 0.14
R6035:Tnks UTSW 8 34918461 missense possibly damaging 0.93
R6035:Tnks UTSW 8 34918461 missense possibly damaging 0.93
R6495:Tnks UTSW 8 34839966 critical splice donor site probably null
R6527:Tnks UTSW 8 34873093 missense probably benign 0.36
R6991:Tnks UTSW 8 34834493 missense probably damaging 1.00
R7015:Tnks UTSW 8 34838547 missense probably benign 0.04
R7038:Tnks UTSW 8 34851636 missense probably damaging 0.99
R7057:Tnks UTSW 8 34840014 missense probably damaging 1.00
R7167:Tnks UTSW 8 34849304 missense probably damaging 0.98
R7250:Tnks UTSW 8 34851758 missense probably damaging 0.98
R7475:Tnks UTSW 8 34831712 missense probably damaging 1.00
R7790:Tnks UTSW 8 34861540 missense probably benign 0.01
R7818:Tnks UTSW 8 34873028 missense probably benign 0.03
R7909:Tnks UTSW 8 34940704 missense probably damaging 1.00
R7970:Tnks UTSW 8 34855926 critical splice donor site probably null
R8341:Tnks UTSW 8 34873045 missense probably damaging 1.00
R8343:Tnks UTSW 8 34834584 missense probably benign 0.03
Z1177:Tnks UTSW 8 34965145 missense probably benign 0.04
Posted On2015-04-16