Incidental Mutation 'IGL02389:Tnks2'
ID 291682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnks2
Ensembl Gene ENSMUSG00000024811
Gene Name tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2
Synonyms 5430432P15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02389
Quality Score
Status
Chromosome 19
Chromosomal Location 36811632-36870877 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36861503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 951 (S951R)
Ref Sequence ENSEMBL: ENSMUSP00000025729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025729] [ENSMUST00000164665]
AlphaFold Q3UES3
Predicted Effect probably benign
Transcript: ENSMUST00000025729
AA Change: S951R

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025729
Gene: ENSMUSG00000024811
AA Change: S951R

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
ANK 57 86 8.07e-5 SMART
ANK 90 119 1.78e-6 SMART
ANK 123 152 6.46e-4 SMART
ANK 210 239 1.76e-5 SMART
ANK 243 272 3.91e-3 SMART
ANK 276 305 3.23e-4 SMART
ANK 363 395 1.57e-2 SMART
ANK 399 428 4.5e-3 SMART
ANK 432 461 4.89e-4 SMART
ANK 525 554 1.43e-5 SMART
ANK 558 587 6.55e-5 SMART
ANK 591 620 1.24e-5 SMART
low complexity region 641 659 N/A INTRINSIC
ANK 678 707 1.69e-7 SMART
ANK 711 740 3.65e-3 SMART
ANK 744 773 3.36e-2 SMART
low complexity region 822 863 N/A INTRINSIC
SAM 870 936 1.03e-10 SMART
Pfam:PARP 952 1157 4.9e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164665
SMART Domains Protein: ENSMUSP00000132440
Gene: ENSMUSG00000024811

DomainStartEndE-ValueType
ANK 3 32 6.55e-5 SMART
ANK 36 65 1.24e-5 SMART
low complexity region 86 104 N/A INTRINSIC
ANK 123 152 1.69e-7 SMART
ANK 156 185 9.05e2 SMART
low complexity region 204 245 N/A INTRINSIC
SAM 252 318 1.03e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168654
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele are viable but display decreased body weight and abnormal adipocyte glucose uptake in response to insulin stimulation. Mice homozygous for a different null allele show partial postnatal lethality as well as decreased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 64,053,826 (GRCm39) S11N probably null Het
Aqp9 T C 9: 71,030,188 (GRCm39) I200V possibly damaging Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Dennd3 A G 15: 73,438,905 (GRCm39) D1091G probably damaging Het
Dock2 T C 11: 34,589,567 (GRCm39) probably benign Het
Dscam T A 16: 96,442,097 (GRCm39) I1577F probably benign Het
Egflam A T 15: 7,279,559 (GRCm39) N482K probably benign Het
Fam216a T C 5: 122,505,574 (GRCm39) T129A probably damaging Het
Fbxo40 T C 16: 36,790,136 (GRCm39) M325V probably benign Het
Fbxw8 C T 5: 118,267,020 (GRCm39) V148M possibly damaging Het
Fcgbp C T 7: 27,774,596 (GRCm39) R57C probably damaging Het
Gnpnat1 A G 14: 45,618,388 (GRCm39) probably null Het
Gria2 T C 3: 80,616,729 (GRCm39) T408A probably benign Het
H2-T3 A G 17: 36,497,500 (GRCm39) M59T probably benign Het
Jakmip1 C T 5: 37,258,187 (GRCm39) Q278* probably null Het
Krtap21-1 C T 16: 89,200,312 (GRCm39) G110D unknown Het
Myo7a C T 7: 97,756,198 (GRCm39) probably null Het
Nlrp9c T A 7: 26,093,632 (GRCm39) Q11L probably benign Het
Or14a257 A G 7: 86,138,336 (GRCm39) L141P probably damaging Het
Or5b94 A T 19: 12,651,899 (GRCm39) D110V probably benign Het
Or6c75 T A 10: 129,336,939 (GRCm39) M62K probably benign Het
Or6c8 A C 10: 128,915,099 (GRCm39) I244M probably damaging Het
Pdzd8 A G 19: 59,289,825 (GRCm39) I525T probably benign Het
Pign A T 1: 105,574,506 (GRCm39) L280* probably null Het
Pik3r4 T G 9: 105,527,530 (GRCm39) I294M possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Prmt3 C T 7: 49,498,506 (GRCm39) Q471* probably null Het
Prrc2c A G 1: 162,520,439 (GRCm39) F2006L probably damaging Het
Ptger3 C T 3: 157,272,808 (GRCm39) R52C probably damaging Het
Rfx2 T C 17: 57,115,325 (GRCm39) probably benign Het
Sh3bp4 T C 1: 89,072,870 (GRCm39) F573L probably damaging Het
Slc18a2 G T 19: 59,251,733 (GRCm39) probably benign Het
Slc26a8 T A 17: 28,857,624 (GRCm39) I840F probably benign Het
Slc5a4b A T 10: 75,908,299 (GRCm39) Y364* probably null Het
Slitrk1 A G 14: 109,149,754 (GRCm39) I319T probably benign Het
Stxbp5l C T 16: 37,028,567 (GRCm39) A499T probably benign Het
Trim30c A G 7: 104,031,381 (GRCm39) F478S probably benign Het
Tyro3 C T 2: 119,635,345 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,042 (GRCm39) L232Q probably damaging Het
Zfp148 T A 16: 33,315,816 (GRCm39) C215S probably damaging Het
Zzef1 C T 11: 72,782,043 (GRCm39) P1995S probably benign Het
Zzef1 T A 11: 72,790,364 (GRCm39) V2106D possibly damaging Het
Other mutations in Tnks2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Tnks2 APN 19 36,849,033 (GRCm39) missense probably benign 0.00
IGL01977:Tnks2 APN 19 36,849,990 (GRCm39) critical splice donor site probably null
IGL02653:Tnks2 APN 19 36,849,851 (GRCm39) missense probably damaging 1.00
IGL02678:Tnks2 APN 19 36,823,143 (GRCm39) missense possibly damaging 0.63
R0053:Tnks2 UTSW 19 36,852,765 (GRCm39) missense probably damaging 1.00
R0053:Tnks2 UTSW 19 36,852,765 (GRCm39) missense probably damaging 1.00
R0426:Tnks2 UTSW 19 36,830,221 (GRCm39) missense probably damaging 1.00
R0436:Tnks2 UTSW 19 36,826,758 (GRCm39) missense possibly damaging 0.51
R0591:Tnks2 UTSW 19 36,849,962 (GRCm39) missense probably damaging 0.99
R0648:Tnks2 UTSW 19 36,839,474 (GRCm39) splice site probably null
R0894:Tnks2 UTSW 19 36,867,450 (GRCm39) critical splice donor site probably null
R1397:Tnks2 UTSW 19 36,857,901 (GRCm39) splice site probably benign
R1459:Tnks2 UTSW 19 36,822,931 (GRCm39) splice site probably benign
R1674:Tnks2 UTSW 19 36,849,022 (GRCm39) missense probably benign 0.03
R1742:Tnks2 UTSW 19 36,853,661 (GRCm39) missense probably damaging 1.00
R1928:Tnks2 UTSW 19 36,823,068 (GRCm39) nonsense probably null
R2025:Tnks2 UTSW 19 36,843,466 (GRCm39) missense probably damaging 0.99
R2898:Tnks2 UTSW 19 36,849,990 (GRCm39) critical splice donor site probably null
R4422:Tnks2 UTSW 19 36,823,053 (GRCm39) missense probably damaging 1.00
R4676:Tnks2 UTSW 19 36,852,671 (GRCm39) nonsense probably null
R5202:Tnks2 UTSW 19 36,866,252 (GRCm39) missense probably damaging 1.00
R5357:Tnks2 UTSW 19 36,826,690 (GRCm39) splice site silent
R5467:Tnks2 UTSW 19 36,859,176 (GRCm39) missense probably damaging 1.00
R5550:Tnks2 UTSW 19 36,839,746 (GRCm39) missense probably damaging 1.00
R6119:Tnks2 UTSW 19 36,856,752 (GRCm39) missense possibly damaging 0.79
R6219:Tnks2 UTSW 19 36,843,604 (GRCm39) intron probably benign
R7270:Tnks2 UTSW 19 36,836,545 (GRCm39) missense
R7309:Tnks2 UTSW 19 36,829,936 (GRCm39) missense probably damaging 1.00
R7310:Tnks2 UTSW 19 36,856,839 (GRCm39) missense probably benign 0.12
R7516:Tnks2 UTSW 19 36,849,064 (GRCm39) missense possibly damaging 0.85
R7823:Tnks2 UTSW 19 36,829,954 (GRCm39) critical splice donor site probably null
R7951:Tnks2 UTSW 19 36,839,555 (GRCm39) missense
R7961:Tnks2 UTSW 19 36,829,901 (GRCm39) missense probably benign 0.15
R8009:Tnks2 UTSW 19 36,829,901 (GRCm39) missense probably benign 0.15
R8193:Tnks2 UTSW 19 36,832,353 (GRCm39) missense possibly damaging 0.70
R8919:Tnks2 UTSW 19 36,823,088 (GRCm39) missense probably damaging 0.97
R9329:Tnks2 UTSW 19 36,835,284 (GRCm39) missense probably damaging 1.00
Z1177:Tnks2 UTSW 19 36,866,280 (GRCm39) missense probably benign 0.10
Z1177:Tnks2 UTSW 19 36,811,977 (GRCm39) missense probably benign 0.20
Posted On 2015-04-16