Incidental Mutation 'IGL02475:Tnks1bp1'
ID 294900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnks1bp1
Ensembl Gene ENSMUSG00000033955
Gene Name tankyrase 1 binding protein 1
Synonyms TAB182
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02475
Quality Score
Status
Chromosome 2
Chromosomal Location 84878366-84903392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84889721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 683 (S683P)
Ref Sequence ENSEMBL: ENSMUSP00000107232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048400] [ENSMUST00000111605]
AlphaFold P58871
Predicted Effect probably damaging
Transcript: ENSMUST00000048400
AA Change: S21P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: S21P

DomainStartEndE-ValueType
low complexity region 77 96 N/A INTRINSIC
low complexity region 292 298 N/A INTRINSIC
low complexity region 809 827 N/A INTRINSIC
low complexity region 868 875 N/A INTRINSIC
Tankyrase_bdg_C 883 1055 1.98e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111605
AA Change: S683P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: S683P

DomainStartEndE-ValueType
low complexity region 37 44 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
low complexity region 496 518 N/A INTRINSIC
low complexity region 739 758 N/A INTRINSIC
low complexity region 954 960 N/A INTRINSIC
low complexity region 1471 1489 N/A INTRINSIC
low complexity region 1530 1537 N/A INTRINSIC
Tankyrase_bdg_C 1545 1717 1.98e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151092
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,119,343 (GRCm39) probably benign Het
5730409E04Rik A G 4: 126,505,742 (GRCm39) E90G probably damaging Het
Abhd6 T A 14: 8,039,849 (GRCm38) I27N probably damaging Het
Akap6 A T 12: 53,186,277 (GRCm39) E1230D probably benign Het
Bcl2l12 A G 7: 44,646,317 (GRCm39) V31A possibly damaging Het
Cep350 G A 1: 155,738,341 (GRCm39) R2501W probably damaging Het
Cnga3 A G 1: 37,297,072 (GRCm39) probably null Het
Crcp T C 5: 130,088,699 (GRCm39) probably benign Het
Creb5 G A 6: 53,670,909 (GRCm39) S304N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnah5 A G 15: 28,219,296 (GRCm39) D38G probably benign Het
Fam171a1 A G 2: 3,224,527 (GRCm39) I293V possibly damaging Het
Fbxw10 T C 11: 62,748,561 (GRCm39) V396A possibly damaging Het
Gm10340 G A 14: 14,832,274 (GRCm39) probably benign Het
Grik3 A G 4: 125,544,310 (GRCm39) T344A probably benign Het
Itga7 T C 10: 128,769,958 (GRCm39) F34S probably damaging Het
Musk T C 4: 58,353,936 (GRCm39) probably benign Het
Neb G T 2: 52,182,831 (GRCm39) N1038K probably damaging Het
Nf1 T C 11: 79,426,493 (GRCm39) Y1636H probably damaging Het
Ngef G T 1: 87,406,872 (GRCm39) T632K possibly damaging Het
Nme1nme2 A G 11: 93,846,400 (GRCm39) V16A probably damaging Het
Nts A G 10: 102,326,108 (GRCm39) probably benign Het
Olfml2b A G 1: 170,509,743 (GRCm39) D697G probably damaging Het
Or5ac23 A T 16: 59,149,088 (GRCm39) H261Q probably benign Het
Or5m8 T C 2: 85,822,376 (GRCm39) F72L probably benign Het
Or9i1 T A 19: 13,839,663 (GRCm39) C169S probably damaging Het
Otof T C 5: 30,534,026 (GRCm39) R1428G probably damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Rnaseh2b T A 14: 62,584,064 (GRCm39) F37I probably damaging Het
Rtn4 T A 11: 29,683,801 (GRCm39) I1031N probably damaging Het
Rxfp2 A G 5: 149,987,151 (GRCm39) E344G probably benign Het
Scel A G 14: 103,774,444 (GRCm39) R89G possibly damaging Het
Sirt4 T C 5: 115,621,055 (GRCm39) E39G probably benign Het
Slc6a12 T A 6: 121,331,334 (GRCm39) probably null Het
Snapc3 C A 4: 83,368,333 (GRCm39) H277N probably benign Het
Susd2 A G 10: 75,473,333 (GRCm39) probably null Het
Tagap1 T C 17: 7,223,826 (GRCm39) Q290R probably benign Het
Tenm3 A T 8: 48,732,233 (GRCm39) probably benign Het
Tmem54 A T 4: 129,002,073 (GRCm39) H40L probably damaging Het
Tnpo2 A G 8: 85,777,131 (GRCm39) D547G probably benign Het
Tpd52l2 G A 2: 181,141,667 (GRCm39) V17M probably benign Het
Trip11 T A 12: 101,861,942 (GRCm39) T208S probably benign Het
Ttc17 C A 2: 94,194,721 (GRCm39) D551Y probably damaging Het
Ttll12 A T 15: 83,471,302 (GRCm39) W222R probably damaging Het
Xkr8 A T 4: 132,455,512 (GRCm39) I287N probably damaging Het
Zdhhc2 G T 8: 40,926,066 (GRCm39) G354C probably null Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Tnks1bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Tnks1bp1 APN 2 84,892,580 (GRCm39) nonsense probably null
IGL00974:Tnks1bp1 APN 2 84,893,226 (GRCm39) missense possibly damaging 0.86
IGL01874:Tnks1bp1 APN 2 84,888,791 (GRCm39) missense probably benign 0.01
IGL02419:Tnks1bp1 APN 2 84,902,125 (GRCm39) missense possibly damaging 0.60
IGL02441:Tnks1bp1 APN 2 84,902,143 (GRCm39) missense probably damaging 1.00
IGL03181:Tnks1bp1 APN 2 84,893,058 (GRCm39) missense probably benign 0.00
K3955:Tnks1bp1 UTSW 2 84,892,755 (GRCm39) missense probably benign 0.01
P0038:Tnks1bp1 UTSW 2 84,892,755 (GRCm39) missense probably benign 0.01
PIT4791001:Tnks1bp1 UTSW 2 84,892,902 (GRCm39) missense probably benign 0.03
R0068:Tnks1bp1 UTSW 2 84,892,696 (GRCm39) missense probably benign 0.12
R0068:Tnks1bp1 UTSW 2 84,892,696 (GRCm39) missense probably benign 0.12
R0164:Tnks1bp1 UTSW 2 84,889,565 (GRCm39) missense possibly damaging 0.94
R0164:Tnks1bp1 UTSW 2 84,889,565 (GRCm39) missense possibly damaging 0.94
R0189:Tnks1bp1 UTSW 2 84,901,273 (GRCm39) missense possibly damaging 0.77
R0454:Tnks1bp1 UTSW 2 84,902,481 (GRCm39) missense probably damaging 1.00
R0650:Tnks1bp1 UTSW 2 84,892,974 (GRCm39) missense possibly damaging 0.68
R0737:Tnks1bp1 UTSW 2 84,882,880 (GRCm39) missense possibly damaging 0.93
R1718:Tnks1bp1 UTSW 2 84,902,082 (GRCm39) missense probably benign 0.44
R1749:Tnks1bp1 UTSW 2 84,893,411 (GRCm39) missense probably benign
R2194:Tnks1bp1 UTSW 2 84,893,409 (GRCm39) missense probably benign 0.06
R2314:Tnks1bp1 UTSW 2 84,889,259 (GRCm39) missense probably benign 0.01
R2379:Tnks1bp1 UTSW 2 84,894,182 (GRCm39) missense probably benign 0.16
R3056:Tnks1bp1 UTSW 2 84,900,344 (GRCm39) nonsense probably null
R3433:Tnks1bp1 UTSW 2 84,901,360 (GRCm39) splice site probably benign
R3751:Tnks1bp1 UTSW 2 84,889,066 (GRCm39) start gained probably benign
R4502:Tnks1bp1 UTSW 2 84,892,991 (GRCm39) nonsense probably null
R4694:Tnks1bp1 UTSW 2 84,902,066 (GRCm39) missense probably damaging 1.00
R4785:Tnks1bp1 UTSW 2 84,893,378 (GRCm39) missense probably damaging 1.00
R5079:Tnks1bp1 UTSW 2 84,892,970 (GRCm39) missense probably damaging 1.00
R5208:Tnks1bp1 UTSW 2 84,900,976 (GRCm39) missense probably damaging 0.96
R5265:Tnks1bp1 UTSW 2 84,893,098 (GRCm39) missense probably benign 0.01
R5512:Tnks1bp1 UTSW 2 84,893,178 (GRCm39) missense probably benign 0.00
R5557:Tnks1bp1 UTSW 2 84,894,144 (GRCm39) missense probably damaging 0.97
R6016:Tnks1bp1 UTSW 2 84,882,734 (GRCm39) missense probably damaging 1.00
R6177:Tnks1bp1 UTSW 2 84,889,624 (GRCm39) start gained probably benign
R6516:Tnks1bp1 UTSW 2 84,901,071 (GRCm39) missense probably damaging 0.97
R6517:Tnks1bp1 UTSW 2 84,889,689 (GRCm39) missense probably benign 0.00
R7032:Tnks1bp1 UTSW 2 84,892,297 (GRCm39) missense probably benign 0.00
R7120:Tnks1bp1 UTSW 2 84,902,441 (GRCm39) missense probably damaging 1.00
R7302:Tnks1bp1 UTSW 2 84,882,698 (GRCm39) missense probably benign 0.24
R7393:Tnks1bp1 UTSW 2 84,893,210 (GRCm39) missense probably benign
R7535:Tnks1bp1 UTSW 2 84,893,624 (GRCm39) nonsense probably null
R7596:Tnks1bp1 UTSW 2 84,893,057 (GRCm39) missense probably benign 0.14
R7680:Tnks1bp1 UTSW 2 84,889,585 (GRCm39) missense probably benign 0.36
R8345:Tnks1bp1 UTSW 2 84,893,226 (GRCm39) missense possibly damaging 0.86
R8413:Tnks1bp1 UTSW 2 84,892,622 (GRCm39) missense probably damaging 1.00
R8768:Tnks1bp1 UTSW 2 84,900,980 (GRCm39) nonsense probably null
R8936:Tnks1bp1 UTSW 2 84,894,320 (GRCm39) missense probably benign 0.00
R8991:Tnks1bp1 UTSW 2 84,894,290 (GRCm39) missense probably benign 0.00
R9007:Tnks1bp1 UTSW 2 84,901,048 (GRCm39) missense probably damaging 1.00
R9118:Tnks1bp1 UTSW 2 84,893,720 (GRCm39) missense probably damaging 1.00
R9709:Tnks1bp1 UTSW 2 84,902,125 (GRCm39) missense probably benign 0.00
R9732:Tnks1bp1 UTSW 2 84,889,727 (GRCm39) missense probably damaging 1.00
Z1176:Tnks1bp1 UTSW 2 84,893,874 (GRCm39) missense probably damaging 0.99
Z1177:Tnks1bp1 UTSW 2 84,889,347 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16