Incidental Mutation 'R7167:Tnks'
ID 557990
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 045228-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7167 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 34826460-34965690 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34849304 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 887 (T887M)
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: T887M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: T887M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (65/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,647,971 (GRCm38) V436A probably benign Het
Abcc5 T C 16: 20,405,501 (GRCm38) T111A possibly damaging Het
Acsbg2 T A 17: 56,857,000 (GRCm38) D203V probably benign Het
Alpk2 G T 18: 65,306,978 (GRCm38) T448K probably benign Het
Arhgef2 A G 3: 88,643,872 (GRCm38) N780S possibly damaging Het
Atxn2l T C 7: 126,499,222 (GRCm38) N252S possibly damaging Het
Bmpr1b A T 3: 141,863,080 (GRCm38) L163Q probably benign Het
Clca2 T C 3: 145,097,784 (GRCm38) R100G probably benign Het
Col2a1 A G 15: 98,000,456 (GRCm38) I79T unknown Het
Csmd1 A G 8: 15,926,524 (GRCm38) V2898A probably benign Het
Cux1 G A 5: 136,310,041 (GRCm38) probably null Het
Cyp2u1 A G 3: 131,303,124 (GRCm38) S2P probably benign Het
Daam1 C A 12: 71,988,904 (GRCm38) H958N probably damaging Het
Dnah7a C T 1: 53,503,776 (GRCm38) V2412I probably benign Het
Ergic2 T C 6: 148,206,635 (GRCm38) R2G probably damaging Het
Fam159b A G 13: 104,863,658 (GRCm38) V19A probably damaging Het
Fat2 T C 11: 55,285,001 (GRCm38) T1629A possibly damaging Het
Ftl1 T A 7: 45,459,778 (GRCm38) probably benign Het
Fut8 T C 12: 77,448,632 (GRCm38) V332A possibly damaging Het
Gm28363 T C 1: 117,727,389 (GRCm38) S113P probably damaging Het
Gm6502 G A 5: 94,317,125 (GRCm38) A457T possibly damaging Het
Hfe A T 13: 23,708,069 (GRCm38) V104E probably damaging Het
Ifih1 A T 2: 62,598,896 (GRCm38) N899K probably benign Het
Krt75 A G 15: 101,568,315 (GRCm38) S380P possibly damaging Het
Meiob T G 17: 24,836,445 (GRCm38) F409V probably damaging Het
Mkrn2os A T 6: 115,585,513 (GRCm38) I163N probably damaging Het
Nanos1 G T 19: 60,756,608 (GRCm38) G115W probably damaging Het
Naprt C T 15: 75,892,612 (GRCm38) A276T probably damaging Het
Oas1e G T 5: 120,795,422 (GRCm38) T26N probably benign Het
Olfr1179 A G 2: 88,402,208 (GRCm38) V242A possibly damaging Het
Olfr1279 T C 2: 111,306,448 (GRCm38) M81T probably benign Het
Olfr355 T C 2: 36,927,521 (GRCm38) I198V probably benign Het
Olfr53 T A 7: 140,652,553 (GRCm38) C191* probably null Het
Olfr766-ps1 T G 10: 129,063,272 (GRCm38) Q245P probably damaging Het
Olfr792 T C 10: 129,540,738 (GRCm38) L67P possibly damaging Het
Olfr967 T C 9: 39,750,569 (GRCm38) F61S probably damaging Het
Oog2 T G 4: 144,195,175 (GRCm38) D218E probably benign Het
Optn T C 2: 5,042,483 (GRCm38) N207S probably benign Het
Oxnad1 G T 14: 32,101,019 (GRCm38) E236* probably null Het
Pcdha3 G A 18: 36,946,993 (GRCm38) A263T probably damaging Het
Pex13 A T 11: 23,655,472 (GRCm38) W253R possibly damaging Het
Pip5k1b T A 19: 24,397,069 (GRCm38) E49D probably benign Het
Plau C A 14: 20,839,450 (GRCm38) F194L possibly damaging Het
Ppm1n A G 7: 19,279,741 (GRCm38) L95S probably damaging Het
Radil G T 5: 142,485,505 (GRCm38) probably null Het
Ralgapa2 C T 2: 146,348,454 (GRCm38) M1266I probably benign Het
Reln A T 5: 21,942,620 (GRCm38) L2444Q probably damaging Het
Rims2 T C 15: 39,437,077 (GRCm38) V260A probably benign Het
Rnase2b T A 14: 51,162,765 (GRCm38) V101E probably damaging Het
Rtp3 T A 9: 110,986,704 (GRCm38) T198S probably benign Het
Smad3 T A 9: 63,666,153 (GRCm38) D201V probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 (GRCm38) probably benign Het
Spata7 T G 12: 98,664,296 (GRCm38) F371C probably damaging Het
Stag1 T G 9: 100,945,889 (GRCm38) N990K probably benign Het
Tbx18 C T 9: 87,707,830 (GRCm38) A352T probably damaging Het
Thada C T 17: 84,230,963 (GRCm38) R1539Q probably benign Het
Thrap3 A C 4: 126,185,127 (GRCm38) probably benign Het
Trap1 A C 16: 4,052,928 (GRCm38) V393G probably damaging Het
Trpm4 A G 7: 45,327,719 (GRCm38) probably null Het
Trrap G T 5: 144,839,614 (GRCm38) G3007C probably benign Het
U2surp A T 9: 95,481,673 (GRCm38) N611K probably damaging Het
Usp12 A G 5: 146,768,935 (GRCm38) probably null Het
Vmn1r200 A G 13: 22,395,317 (GRCm38) T97A possibly damaging Het
Vmn2r110 C T 17: 20,574,179 (GRCm38) V743I probably benign Het
Vps50 C T 6: 3,600,256 (GRCm38) T905M probably damaging Het
Wdr48 T A 9: 119,907,789 (GRCm38) probably null Het
Zfp446 C T 7: 12,978,122 (GRCm38) probably benign Het
Zfr T C 15: 12,180,929 (GRCm38) S1012P probably benign Het
Other mutations in Tnks
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0526:Tnks UTSW 8 34,853,303 (GRCm38) missense probably benign 0.23
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
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'- GGTCATGCCTGGAATCCTAATG -3'
(R):5'- GCTGAGTAGGAGACAAGTCC -3'

Sequencing Primer
(F):5'- TGCCTGGAATCCTAATGTACAAC -3'
(R):5'- GCACAGGAGAAGACTGTTTTTG -3'
Posted On 2019-06-26