Incidental Mutation 'PIT4791001:Tnks1bp1'
ID 556954
Institutional Source Beutler Lab
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 # PIT4791001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 84878366-84903392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84892902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 943 (E943G)
Ref Sequence ENSEMBL: ENSMUSP00000107232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048400] [ENSMUST00000111605]
AlphaFold P58871
Predicted Effect probably benign
Transcript: ENSMUST00000048400
AA Change: E281G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: E281G

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: E943G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: E943G

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
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 83.3%
  • 20x: 68.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 G A 15: 72,993,089 (GRCm39) T472I possibly damaging Het
Ambp T A 4: 63,072,298 (GRCm39) probably benign Het
As3mt T A 19: 46,708,788 (GRCm39) F261I probably damaging Het
Atxn1l A G 8: 110,458,579 (GRCm39) L561P probably damaging Het
Cnr2 A G 4: 135,644,263 (GRCm39) T114A probably damaging Het
Dchs1 A G 7: 105,408,178 (GRCm39) Y1885H probably damaging Het
Dcn A G 10: 97,343,604 (GRCm39) N188S probably benign Het
Dennd6b A C 15: 89,070,955 (GRCm39) probably null Het
Dstyk A G 1: 132,377,665 (GRCm39) T424A probably benign Het
Gabrr3 A G 16: 59,250,298 (GRCm39) probably null Het
Gnai3 A G 3: 108,025,621 (GRCm39) S153P probably benign Het
Igkv2-112 T A 6: 68,197,599 (GRCm39) S90R probably damaging Het
Lxn T C 3: 67,365,979 (GRCm39) D173G probably damaging Het
Mcm3ap T A 10: 76,342,307 (GRCm39) I1600N probably damaging Het
Myof A T 19: 37,971,406 (GRCm39) probably null Het
Nrxn1 T C 17: 90,762,931 (GRCm39) probably benign Het
Oaz3 A G 3: 94,340,852 (GRCm39) Y232H unknown Het
Or5aq1b A T 2: 86,902,046 (GRCm39) M144K possibly damaging Het
Pkdcc C T 17: 83,527,577 (GRCm39) R252* probably null Het
Plcl1 A G 1: 55,741,090 (GRCm39) N907S probably benign Het
Plscr1 T A 9: 92,145,150 (GRCm39) Y53* probably null Het
Pm20d2 T C 4: 33,174,756 (GRCm39) T377A probably benign Het
Ptchd3 T A 11: 121,722,875 (GRCm39) V321D probably damaging Het
Ranbp3l T C 15: 9,060,829 (GRCm39) I366T probably damaging Het
Sardh T C 2: 27,087,660 (GRCm39) E737G probably damaging Het
Scart2 T C 7: 139,853,975 (GRCm39) F326S possibly damaging Het
Scn1a T C 2: 66,103,626 (GRCm39) E1878G probably benign Het
Slit3 T C 11: 35,552,072 (GRCm39) V872A possibly damaging Het
Sugp2 C T 8: 70,713,195 (GRCm39) Q1054* probably null Het
Syne3 T C 12: 104,929,438 (GRCm39) T261A probably benign Het
Tgif2 T C 2: 156,695,232 (GRCm39) S126P probably benign Het
Ticrr T C 7: 79,319,386 (GRCm39) V457A possibly damaging Het
Tm7sf2 T C 19: 6,113,635 (GRCm39) I299V probably benign Het
Tpd52l2 T A 2: 181,141,681 (GRCm39) F21L probably benign Het
Tpm2 A G 4: 43,519,263 (GRCm39) L176P probably benign Het
Trim34a C A 7: 103,909,691 (GRCm39) T293K probably benign Het
Ttc23 A T 7: 67,312,135 (GRCm39) D14V probably damaging Het
Twsg1 T C 17: 66,236,706 (GRCm39) E108G probably benign Het
Txndc15 C T 13: 55,869,507 (GRCm39) A220V probably benign Het
Vmn1r183 A G 7: 23,754,266 (GRCm39) Q23R probably damaging Het
Vmn1r31 A G 6: 58,449,028 (GRCm39) V279A probably damaging Het
Vmo1 A C 11: 70,404,661 (GRCm39) C113W probably damaging Het
Zfp984 A G 4: 147,840,603 (GRCm39) S83P probably benign Het
Zik1 A C 7: 10,226,256 (GRCm39) L37R 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
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
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
Predicted Primers PCR Primer
(F):5'- CCGAGATGCAAGCCTTCAAG -3'
(R):5'- GGCCTCACAAAACCTGTCTTC -3'

Sequencing Primer
(F):5'- TGCAAGCCTTCAAGACTGG -3'
(R):5'- AACCTGTCTTCACCAACTGGGG -3'
Posted On 2019-06-07