Incidental Mutation 'R0526:Tnks'
ID 48928
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 038719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0526 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 34826460-34965690 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34853303 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 738 (V738E)
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: V738E

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: V738E

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,455,224 (GRCm38) N230I possibly damaging Het
4933427D14Rik G T 11: 72,169,783 (GRCm38) Q687K probably damaging Het
Actrt2 A G 4: 154,667,412 (GRCm38) L89P probably damaging Het
Adamts1 A C 16: 85,802,372 (GRCm38) S113R probably benign Het
Agxt2 G T 15: 10,373,862 (GRCm38) C118F probably damaging Het
Akap8 G A 17: 32,317,292 (GRCm38) T49I probably benign Het
Alk A T 17: 71,869,753 (GRCm38) W1519R probably damaging Het
Atf7ip T A 6: 136,559,805 (GRCm38) F12Y probably damaging Het
Atp13a5 A G 16: 29,348,740 (GRCm38) C131R probably damaging Het
Atp8b4 A G 2: 126,427,363 (GRCm38) L168P probably damaging Het
Blm G T 7: 80,505,893 (GRCm38) S346* probably null Het
Ccnt2 T G 1: 127,799,445 (GRCm38) C199G probably damaging Het
Cd151 A T 7: 141,470,591 (GRCm38) H219L probably damaging Het
Cd200r2 A T 16: 44,915,047 (GRCm38) R248S probably damaging Het
Cdh3 A G 8: 106,555,446 (GRCm38) D822G possibly damaging Het
Clec4b1 T C 6: 123,069,770 (GRCm38) probably null Het
Cluh C A 11: 74,665,986 (GRCm38) L951I probably benign Het
Cog7 A T 7: 121,963,271 (GRCm38) probably null Het
Col25a1 C A 3: 130,476,394 (GRCm38) P197Q probably damaging Het
Csde1 T A 3: 103,056,426 (GRCm38) S636R possibly damaging Het
Ect2l C A 10: 18,199,940 (GRCm38) C66F possibly damaging Het
Elac2 T C 11: 64,999,436 (GRCm38) M671T probably benign Het
Evi5 T C 5: 107,821,748 (GRCm38) N143S probably benign Het
Ext2 A G 2: 93,806,085 (GRCm38) V228A probably damaging Het
Fbxo38 A G 18: 62,505,980 (GRCm38) Y1084H probably damaging Het
Fcgr4 T A 1: 171,029,191 (GRCm38) L209Q probably damaging Het
Fgd3 C T 13: 49,296,524 (GRCm38) S83N probably benign Het
Gigyf2 T A 1: 87,421,493 (GRCm38) M664K probably benign Het
Gm38394 T C 1: 133,658,734 (GRCm38) I288M probably damaging Het
Il27ra A T 8: 84,039,499 (GRCm38) S219T probably benign Het
Kif15 T C 9: 122,997,797 (GRCm38) V800A probably damaging Het
Lmo7 T A 14: 101,900,560 (GRCm38) D666E probably damaging Het
Lrp5 T C 19: 3,628,295 (GRCm38) D520G probably damaging Het
Lrriq3 T A 3: 155,188,297 (GRCm38) M545K probably benign Het
Lsm5 T A 6: 56,703,325 (GRCm38) D44V probably damaging Het
Man1c1 G T 4: 134,569,068 (GRCm38) Y430* probably null Het
Map4 T A 9: 110,037,278 (GRCm38) probably null Het
Megf6 A G 4: 154,258,941 (GRCm38) K561R probably benign Het
Myo1e T C 9: 70,322,398 (GRCm38) Y173H probably damaging Het
Myo6 T A 9: 80,283,541 (GRCm38) S791R possibly damaging Het
Nol11 C A 11: 107,184,771 (GRCm38) E144* probably null Het
Ntng2 C T 2: 29,197,062 (GRCm38) R416Q probably damaging Het
Nxpe3 T A 16: 55,866,517 (GRCm38) I43F possibly damaging Het
Olfr1093 A T 2: 86,786,347 (GRCm38) T206S possibly damaging Het
Olfr1284 T A 2: 111,379,492 (GRCm38) V164E possibly damaging Het
Pkd1l2 T C 8: 117,082,260 (GRCm38) I64V probably damaging Het
Prf1 G A 10: 61,300,254 (GRCm38) R103H probably benign Het
Rest A G 5: 77,281,027 (GRCm38) D431G probably damaging Het
Serpina10 A T 12: 103,616,868 (GRCm38) L439Q probably damaging Het
Sgk3 T G 1: 9,881,579 (GRCm38) V176G probably damaging Het
Slc19a3 A G 1: 83,022,733 (GRCm38) S188P probably damaging Het
Sorbs1 A G 19: 40,349,948 (GRCm38) I336T probably damaging Het
Ssfa2 A G 2: 79,657,346 (GRCm38) D591G probably benign Het
Strip1 C T 3: 107,620,039 (GRCm38) probably null Het
Syt4 T C 18: 31,443,746 (GRCm38) E185G possibly damaging Het
Tcaf3 T A 6: 42,589,804 (GRCm38) I784F probably damaging Het
Tgfbr3l G T 8: 4,249,439 (GRCm38) R74L possibly damaging Het
Thoc7 A G 14: 13,949,282 (GRCm38) M194T probably benign Het
Thsd7b T C 1: 129,951,392 (GRCm38) Y989H probably damaging Het
Tmem156 C T 5: 65,075,818 (GRCm38) V134I probably benign Het
Trpm6 A T 19: 18,792,876 (GRCm38) I342F probably damaging Het
Vmn2r69 A T 7: 85,411,503 (GRCm38) V291D probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 111,480,540 (GRCm38) probably benign Het
Wnk1 T C 6: 119,951,992 (GRCm38) T1292A probably damaging Het
Yes1 T A 5: 32,655,240 (GRCm38) C285S probably benign Het
Zbtb49 T C 5: 38,213,919 (GRCm38) N206S 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
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
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'- CCTTCTTGGGTGAAATGTCCCCAC -3'
(R):5'- AGAGTCTCACATAGGCTGTGCTGG -3'

Sequencing Primer
(F):5'- GGGTGAAATGTCCCCACTTAGTC -3'
(R):5'- ctgacctcctgcctttacc -3'
Posted On 2013-06-12