Incidental Mutation 'IGL03181:Tnks1bp1'
ID412263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnks1bp1
Ensembl Gene ENSMUSG00000033955
Gene Nametankyrase 1 binding protein 1
SynonymsTAB182
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03181
Quality Score
Status
Chromosome2
Chromosomal Location85048022-85073048 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 85062714 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 333 (T333I)
Ref Sequence ENSEMBL: ENSMUSP00000045767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048400] [ENSMUST00000111605]
Predicted Effect probably benign
Transcript: ENSMUST00000048400
AA Change: T333I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: T333I

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 benign
Transcript: ENSMUST00000111605
AA Change: T995I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: T995I

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,193,373 V1319A possibly damaging Het
Abcb11 T A 2: 69,328,008 probably benign Het
Acss3 G T 10: 107,053,388 H190Q probably damaging Het
Adra2b C T 2: 127,363,983 T140I probably benign Het
Arl1 T A 10: 88,743,059 probably benign Het
Atp4a T G 7: 30,724,704 C968G probably benign Het
BC003331 G T 1: 150,363,539 P378T probably benign Het
Clec4n T C 6: 123,230,515 C13R possibly damaging Het
Cnot3 T C 7: 3,653,248 Y178H probably damaging Het
Col18a1 G A 10: 77,055,698 R1560C probably damaging Het
Cyp2c66 T C 19: 39,142,039 F106S probably benign Het
Dcn A C 10: 97,483,452 E30D probably damaging Het
Dennd5a A T 7: 109,933,658 F302I probably damaging Het
Dip2b T C 15: 100,215,207 V1501A probably damaging Het
Dnah10 C T 5: 124,748,457 P687S probably damaging Het
Drc7 A G 8: 95,068,127 T387A probably benign Het
Dusp7 T A 9: 106,373,810 M378K probably damaging Het
Ftmt T C 18: 52,331,881 Y90H probably damaging Het
Glb1l3 T C 9: 26,828,363 probably null Het
Gm884 A T 11: 103,616,416 probably benign Het
Gpatch3 T C 4: 133,578,122 F223L probably damaging Het
Gpr158 T A 2: 21,783,161 F538I probably benign Het
Gucy2e A G 11: 69,230,182 probably benign Het
Hadha A G 5: 30,121,526 V566A probably benign Het
Hectd4 A T 5: 121,353,958 S3787C possibly damaging Het
Hnrnpk A T 13: 58,394,316 D265E possibly damaging Het
Hspbp1 G A 7: 4,684,364 R83W probably damaging Het
Hspg2 T A 4: 137,515,937 L758Q probably damaging Het
Ippk A G 13: 49,441,987 Y180C probably damaging Het
Itpr3 T A 17: 27,111,268 M1620K probably benign Het
Klf7 T C 1: 64,035,726 K298R possibly damaging Het
Ktn1 A T 14: 47,733,284 T1229S probably benign Het
Lefty2 A G 1: 180,897,550 N282D probably damaging Het
Nsd1 G A 13: 55,247,045 E820K probably damaging Het
Obsl1 C A 1: 75,492,584 A1238S probably benign Het
Pias2 T C 18: 77,133,242 I391T possibly damaging Het
Ppp1r10 G T 17: 35,930,624 G764* probably null Het
Ptpra T C 2: 130,517,787 F158L probably damaging Het
Recql T C 6: 142,378,192 S59G probably benign Het
Rrp1b A T 17: 32,057,176 I566F probably benign Het
Sh3yl1 G A 12: 30,941,980 D145N possibly damaging Het
Slc35f5 T A 1: 125,585,185 I52N probably damaging Het
Slc51b A G 9: 65,415,165 probably null Het
Smpd4 C T 16: 17,625,807 Q72* probably null Het
Spata6 A G 4: 111,822,766 D391G probably benign Het
Tnc T A 4: 63,967,306 D1853V possibly damaging Het
Vmn2r100 T A 17: 19,531,945 I813N probably damaging Het
Vwa8 T A 14: 79,009,250 H677Q probably benign Het
Washc4 T C 10: 83,591,019 Y1064H probably damaging Het
Wdr82 T A 9: 106,186,415 I272K probably benign Het
Zc3h12a T C 4: 125,119,304 Y589C probably damaging Het
Other mutations in Tnks1bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Tnks1bp1 APN 2 85062236 nonsense probably null
IGL00974:Tnks1bp1 APN 2 85062882 missense possibly damaging 0.92
IGL01874:Tnks1bp1 APN 2 85058447 missense probably benign 0.01
IGL02419:Tnks1bp1 APN 2 85071781 missense possibly damaging 0.60
IGL02441:Tnks1bp1 APN 2 85071799 missense probably damaging 1.00
IGL02475:Tnks1bp1 APN 2 85059377 missense probably damaging 1.00
K3955:Tnks1bp1 UTSW 2 85062411 missense probably benign 0.01
P0038:Tnks1bp1 UTSW 2 85062411 missense probably benign 0.01
PIT4791001:Tnks1bp1 UTSW 2 85062558 missense probably benign 0.03
R0068:Tnks1bp1 UTSW 2 85062352 missense probably benign 0.12
R0068:Tnks1bp1 UTSW 2 85062352 missense probably benign 0.12
R0164:Tnks1bp1 UTSW 2 85059221 missense possibly damaging 0.94
R0164:Tnks1bp1 UTSW 2 85059221 missense possibly damaging 0.94
R0189:Tnks1bp1 UTSW 2 85070929 missense possibly damaging 0.77
R0454:Tnks1bp1 UTSW 2 85072137 missense probably damaging 1.00
R0650:Tnks1bp1 UTSW 2 85062630 missense possibly damaging 0.68
R0737:Tnks1bp1 UTSW 2 85052536 missense possibly damaging 0.93
R1718:Tnks1bp1 UTSW 2 85071738 missense probably benign 0.44
R1749:Tnks1bp1 UTSW 2 85063067 missense probably benign
R2194:Tnks1bp1 UTSW 2 85063065 missense probably benign 0.06
R2314:Tnks1bp1 UTSW 2 85058915 missense probably benign 0.01
R2379:Tnks1bp1 UTSW 2 85063838 missense probably benign 0.16
R3056:Tnks1bp1 UTSW 2 85070000 nonsense probably null
R3433:Tnks1bp1 UTSW 2 85071016 splice site probably benign
R3751:Tnks1bp1 UTSW 2 85058722 start gained probably benign
R4502:Tnks1bp1 UTSW 2 85062647 nonsense probably null
R4694:Tnks1bp1 UTSW 2 85071722 missense probably damaging 1.00
R4785:Tnks1bp1 UTSW 2 85063034 missense probably damaging 1.00
R5079:Tnks1bp1 UTSW 2 85062626 missense probably damaging 1.00
R5208:Tnks1bp1 UTSW 2 85070632 missense probably damaging 0.96
R5265:Tnks1bp1 UTSW 2 85062754 missense probably benign 0.01
R5512:Tnks1bp1 UTSW 2 85062834 missense probably benign 0.00
R5557:Tnks1bp1 UTSW 2 85063800 missense probably damaging 0.97
R6016:Tnks1bp1 UTSW 2 85052390 missense probably damaging 1.00
R6177:Tnks1bp1 UTSW 2 85059280 start gained probably benign
R6516:Tnks1bp1 UTSW 2 85070727 missense probably damaging 0.97
R6517:Tnks1bp1 UTSW 2 85059345 missense probably benign 0.00
R7032:Tnks1bp1 UTSW 2 85061953 missense probably benign 0.00
R7120:Tnks1bp1 UTSW 2 85072097 missense probably damaging 1.00
R7302:Tnks1bp1 UTSW 2 85052354 missense probably benign 0.24
R7393:Tnks1bp1 UTSW 2 85062866 missense probably benign
Posted On2016-08-02