Incidental Mutation 'R5265:Tnks1bp1'
ID 401629
Institutional Source Beutler Lab
Gene Symbol Tnks1bp1
Ensembl Gene ENSMUSG00000033955
Gene Name tankyrase 1 binding protein 1
Synonyms TAB182
MMRRC Submission 042833-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84878366-84903392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84893098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1008 (D1008E)
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: D346E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: D346E

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: D1008E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: D1008E

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
Meta Mutation Damage Score 0.0760 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L possibly damaging 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
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
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'- GTACTGGACATCCATGGCAG -3'
(R):5'- GTAGGGCTCTGACTTTCTGC -3'

Sequencing Primer
(F):5'- AAGAGTGCTTGGTTCCAGGATTACAG -3'
(R):5'- GCTCTGACTTTCTGCCTGCATTC -3'
Posted On 2016-07-06