Incidental Mutation 'R8343:Tnks'
ID 645021
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 067866-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8343 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 34826460-34965690 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34834584 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1244 (F1244L)
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: F1244L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: F1244L

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 probably damaging
Transcript: ENSMUST00000210014
AA Change: F100L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (64/66)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T A 8: 111,040,729 (GRCm38) W156R probably damaging Het
Acvr1 T A 2: 58,474,274 (GRCm38) probably null Het
Adamts2 G T 11: 50,603,488 (GRCm38) V130L probably damaging Het
Adcy4 C T 14: 55,775,240 (GRCm38) V541I probably benign Het
Adgrl2 C T 3: 148,846,906 (GRCm38) V654I probably damaging Het
Ago3 T A 4: 126,376,928 (GRCm38) K258* probably null Het
Akap11 A T 14: 78,512,489 (GRCm38) S819R Het
Alox5ap T C 5: 149,287,609 (GRCm38) F121L probably damaging Het
Baz2b A T 2: 59,901,514 (GRCm38) M2060K probably damaging Het
C030005K15Rik T C 10: 97,725,552 (GRCm38) I106V unknown Het
Carmil2 T A 8: 105,691,084 (GRCm38) S604T probably benign Het
Cdhr1 T C 14: 37,091,978 (GRCm38) T164A probably benign Het
Dhx30 T C 9: 110,085,501 (GRCm38) E976G possibly damaging Het
Dnah17 C T 11: 118,114,195 (GRCm38) G788R probably benign Het
Dus2 T C 8: 105,996,013 (GRCm38) probably benign Het
Etv6 T C 6: 134,248,754 (GRCm38) V316A possibly damaging Het
Fabp9 T G 3: 10,194,025 (GRCm38) K107T possibly damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,609,203 (GRCm38) probably benign Het
Gapdh A G 6: 125,163,263 (GRCm38) V92A probably benign Het
Gfy A G 7: 45,176,595 (GRCm38) L453P probably damaging Het
Gm6588 C T 5: 112,450,787 (GRCm38) T400I probably benign Het
Gp2 C T 7: 119,442,787 (GRCm38) C505Y probably benign Het
Gtpbp8 T C 16: 44,746,313 (GRCm38) R9G probably benign Het
Hipk4 G T 7: 27,523,608 (GRCm38) R31L probably damaging Het
Htt T A 5: 34,905,724 (GRCm38) M2900K probably damaging Het
Ighv1-20 T C 12: 114,724,190 (GRCm38) I6V probably benign Het
Il17d C T 14: 57,542,480 (GRCm38) T153I probably damaging Het
Izumo3 T A 4: 92,146,344 (GRCm38) N117I probably damaging Het
Kcnh7 T C 2: 62,850,535 (GRCm38) D236G probably benign Het
Kmt2d T C 15: 98,852,597 (GRCm38) D2405G unknown Het
Map4k2 T C 19: 6,346,566 (GRCm38) W533R probably damaging Het
Matn1 C A 4: 130,945,989 (GRCm38) Y89* probably null Het
Mettl18 T A 1: 163,996,940 (GRCm38) Y277N probably damaging Het
Muc5b G A 7: 141,864,161 (GRCm38) G3615S probably benign Het
Mycbp2 A C 14: 103,160,675 (GRCm38) probably null Het
Myh4 T A 11: 67,252,564 (GRCm38) S1041T possibly damaging Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Naaladl1 T C 19: 6,109,673 (GRCm38) V378A possibly damaging Het
Nars T C 18: 64,504,387 (GRCm38) D374G probably benign Het
Neb C T 2: 52,308,271 (GRCm38) probably null Het
Neurl1b A G 17: 26,431,991 (GRCm38) Y79C probably damaging Het
Nynrin A G 14: 55,863,791 (GRCm38) T306A probably benign Het
Ola1 G T 2: 73,199,401 (GRCm38) R125S probably damaging Het
Olfr105-ps T A 17: 37,383,231 (GRCm38) F221L probably benign Het
Olfr644 A T 7: 104,068,176 (GRCm38) V285D probably damaging Het
Pak1ip1 C A 13: 41,004,738 (GRCm38) T29K probably benign Het
Podnl1 T A 8: 84,130,773 (GRCm38) L337H Het
Rictor T G 15: 6,778,319 (GRCm38) probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 (GRCm38) probably benign Het
Sel1l2 T C 2: 140,230,833 (GRCm38) I627M probably benign Het
Sh3rf2 T C 18: 42,111,428 (GRCm38) S352P probably damaging Het
Slc6a6 G A 6: 91,726,243 (GRCm38) W199* probably null Het
Smc2 T A 4: 52,450,965 (GRCm38) V261E probably benign Het
Sorcs3 G A 19: 48,704,369 (GRCm38) probably null Het
Spdye4a T A 5: 143,225,807 (GRCm38) M1L probably benign Het
Stag1 T C 9: 100,757,766 (GRCm38) I125T possibly damaging Het
Stx8 T A 11: 68,020,988 (GRCm38) D177E probably benign Het
Sun2 T C 15: 79,738,924 (GRCm38) Y71C probably damaging Het
Tmed9 T C 13: 55,594,804 (GRCm38) F129L probably benign Het
Tmem216 T A 19: 10,551,972 (GRCm38) T17S probably benign Het
Tmpo A T 10: 91,162,112 (GRCm38) N604K probably benign Het
Tmprss11f T A 5: 86,533,807 (GRCm38) I196F probably benign Het
Tspan2 T C 3: 102,768,910 (GRCm38) C212R probably damaging Het
Tspan4 A G 7: 141,491,805 (GRCm38) D155G probably damaging Het
Ttc6 T C 12: 57,660,496 (GRCm38) F730L possibly damaging Het
Txnrd2 G A 16: 18,426,541 (GRCm38) A33T unknown Het
Uhrf1bp1l T C 10: 89,791,419 (GRCm38) S449P probably benign Het
Wnk1 C T 6: 119,963,493 (GRCm38) R761H probably damaging Het
Zfp217 T C 2: 170,120,104 (GRCm38) D101G probably damaging Het
Zfp281 T C 1: 136,627,882 (GRCm38) F866S probably damaging 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
R7167:Tnks UTSW 8 34,849,304 (GRCm38) missense probably damaging 0.98
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
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'- TGACTTGTTCGTGCTGTCAAC -3'
(R):5'- CACACAGACTTGAAAGTAGCATTTC -3'

Sequencing Primer
(F):5'- GTTCGTGCTGTCAACATACCTG -3'
(R):5'- TGAAAGTAGCATTTCAATTAACTTGC -3'
Posted On 2020-09-02