Incidental Mutation 'IGL00974:Tnks1bp1'
ID 27011
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 # IGL00974
Quality Score
Status
Chromosome 2
Chromosomal Location 84878366-84903392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84893226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 389 (T389I)
Ref Sequence ENSEMBL: ENSMUSP00000045767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048400] [ENSMUST00000111605]
AlphaFold P58871
Predicted Effect possibly damaging
Transcript: ENSMUST00000048400
AA Change: T389I

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: T389I

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 possibly damaging
Transcript: ENSMUST00000111605
AA Change: T1051I

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: T1051I

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brwd1 T A 16: 95,844,226 (GRCm39) K776M probably damaging Het
Crisp4 T C 1: 18,198,871 (GRCm39) T188A probably damaging Het
E130311K13Rik T A 3: 63,827,784 (GRCm39) probably null Het
Fyb1 A G 15: 6,672,066 (GRCm39) probably benign Het
Gcn1 G A 5: 115,751,852 (GRCm39) V2076M possibly damaging Het
Grik5 A T 7: 24,713,310 (GRCm39) I766N probably damaging Het
Grk3 A G 5: 113,133,685 (GRCm39) Y46H probably damaging Het
Gtf2a1l A G 17: 89,022,377 (GRCm39) D456G probably damaging Het
Kcna10 A G 3: 107,102,647 (GRCm39) D426G probably damaging Het
Luzp2 A T 7: 54,724,774 (GRCm39) I112F probably damaging Het
Med12l G T 3: 58,990,435 (GRCm39) R519M probably damaging Het
Mrpl39 G A 16: 84,520,740 (GRCm39) P300S probably damaging Het
Polr3a A T 14: 24,529,492 (GRCm39) I328N probably benign Het
Slc22a8 A G 19: 8,587,290 (GRCm39) N450S probably damaging Het
Slc38a4 T C 15: 96,897,397 (GRCm39) T473A probably benign Het
Slc4a7 C T 14: 14,760,292 (GRCm38) P576S probably benign Het
Tecta A G 9: 42,242,670 (GRCm39) I2057T probably benign Het
Tnxb T C 17: 34,937,707 (GRCm39) probably null Het
Tsc22d1 A G 14: 76,743,882 (GRCm39) Y10C probably damaging Het
Vmn1r34 T C 6: 66,614,639 (GRCm39) H33R possibly damaging Het
Vmn2r102 G T 17: 19,897,771 (GRCm39) W262L possibly damaging Het
Other mutations in Tnks1bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Tnks1bp1 APN 2 84,892,580 (GRCm39) nonsense probably null
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
IGL02475:Tnks1bp1 APN 2 84,889,721 (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 2013-04-17