Incidental Mutation 'R1793:Tanc2'
ID 201975
Institutional Source Beutler Lab
Gene Symbol Tanc2
Ensembl Gene ENSMUSG00000053580
Gene Name tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
Synonyms 5730590C14Rik, 3526402J09Rik
MMRRC Submission 039823-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1793 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 105480812-105820130 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 105515859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100330] [ENSMUST00000100330] [ENSMUST00000168598] [ENSMUST00000168598]
AlphaFold A2A690
Predicted Effect probably null
Transcript: ENSMUST00000100330
SMART Domains Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580

DomainStartEndE-ValueType
low complexity region 32 50 N/A INTRINSIC
low complexity region 129 152 N/A INTRINSIC
low complexity region 362 375 N/A INTRINSIC
low complexity region 436 447 N/A INTRINSIC
low complexity region 823 834 N/A INTRINSIC
ANK 846 878 2.08e3 SMART
ANK 882 913 2.97e2 SMART
ANK 917 946 5.75e-1 SMART
ANK 950 979 8.62e1 SMART
ANK 990 1018 1.16e3 SMART
ANK 1033 1062 3.31e-1 SMART
ANK 1066 1095 7.71e-2 SMART
ANK 1099 1128 6.12e-5 SMART
ANK 1132 1161 8.99e-3 SMART
ANK 1165 1194 5.71e-5 SMART
ANK 1198 1227 2.11e2 SMART
TPR 1244 1277 3.89e1 SMART
TPR 1291 1324 3.61e-2 SMART
TPR 1325 1358 2.82e-4 SMART
low complexity region 1369 1406 N/A INTRINSIC
low complexity region 1533 1539 N/A INTRINSIC
low complexity region 1787 1802 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000100330
SMART Domains Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580

DomainStartEndE-ValueType
low complexity region 32 50 N/A INTRINSIC
low complexity region 129 152 N/A INTRINSIC
low complexity region 362 375 N/A INTRINSIC
low complexity region 436 447 N/A INTRINSIC
low complexity region 823 834 N/A INTRINSIC
ANK 846 878 2.08e3 SMART
ANK 882 913 2.97e2 SMART
ANK 917 946 5.75e-1 SMART
ANK 950 979 8.62e1 SMART
ANK 990 1018 1.16e3 SMART
ANK 1033 1062 3.31e-1 SMART
ANK 1066 1095 7.71e-2 SMART
ANK 1099 1128 6.12e-5 SMART
ANK 1132 1161 8.99e-3 SMART
ANK 1165 1194 5.71e-5 SMART
ANK 1198 1227 2.11e2 SMART
TPR 1244 1277 3.89e1 SMART
TPR 1291 1324 3.61e-2 SMART
TPR 1325 1358 2.82e-4 SMART
low complexity region 1369 1406 N/A INTRINSIC
low complexity region 1533 1539 N/A INTRINSIC
low complexity region 1787 1802 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124367
Predicted Effect probably null
Transcript: ENSMUST00000168598
SMART Domains Protein: ENSMUSP00000129877
Gene: ENSMUSG00000053580

DomainStartEndE-ValueType
low complexity region 32 50 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000168598
SMART Domains Protein: ENSMUSP00000129877
Gene: ENSMUSG00000053580

DomainStartEndE-ValueType
low complexity region 32 50 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 100% (122/122)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap vector die prior to E12. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,144 (GRCm39) H571Q probably damaging Het
Abcf2 T A 5: 24,773,774 (GRCm39) M372L probably benign Het
Acaca A C 11: 84,206,795 (GRCm39) T1552P probably damaging Het
Acaca A G 11: 84,229,219 (GRCm39) D1682G probably damaging Het
Acvr1b T C 15: 101,091,906 (GRCm39) V62A probably benign Het
Aimp1 C T 3: 132,379,825 (GRCm39) V97M probably benign Het
Aldh1l1 C T 6: 90,554,813 (GRCm39) T557I possibly damaging Het
Alpk1 T C 3: 127,471,447 (GRCm39) T1012A probably damaging Het
Amot G A X: 144,233,585 (GRCm39) probably benign Het
Arap1 T A 7: 101,037,829 (GRCm39) H477Q probably benign Het
Arhgap18 T A 10: 26,736,732 (GRCm39) probably benign Het
Arhgef10l C T 4: 140,242,684 (GRCm39) V862M probably damaging Het
Arl4d A G 11: 101,557,554 (GRCm39) I27V probably benign Het
Asb18 G A 1: 89,942,277 (GRCm39) P8L probably damaging Het
Ash1l A G 3: 88,977,616 (GRCm39) H2682R probably damaging Het
Aspm T A 1: 139,385,079 (GRCm39) V241E probably benign Het
Atf7ip G T 6: 136,586,217 (GRCm39) probably benign Het
AY358078 T G 14: 52,042,051 (GRCm39) M142R unknown Het
C3 T A 17: 57,526,592 (GRCm39) K796N possibly damaging Het
Ceacam16 T C 7: 19,590,041 (GRCm39) T301A probably damaging Het
Ceacam5 T G 7: 17,481,320 (GRCm39) Y356D probably benign Het
Cep192 C T 18: 67,984,838 (GRCm39) A1616V possibly damaging Het
Cfap91 T A 16: 38,141,781 (GRCm39) N384Y possibly damaging Het
Cherp A T 8: 73,216,994 (GRCm39) H645Q probably benign Het
CK137956 T C 4: 127,845,242 (GRCm39) D167G probably benign Het
Clcn1 T A 6: 42,275,860 (GRCm39) probably null Het
Cntn1 C T 15: 92,189,552 (GRCm39) T625I possibly damaging Het
Cpn2 T A 16: 30,078,142 (GRCm39) N520Y probably damaging Het
Crocc G A 4: 140,746,620 (GRCm39) R1762W probably damaging Het
Cts3 C A 13: 61,715,967 (GRCm39) V100F probably benign Het
Ddx56 A T 11: 6,216,934 (GRCm39) V87D probably damaging Het
Dnah9 C T 11: 66,010,420 (GRCm39) probably null Het
Dock1 T A 7: 134,700,456 (GRCm39) probably null Het
Dst T A 1: 34,191,552 (GRCm39) Y291* probably null Het
Eif4g3 T C 4: 137,898,442 (GRCm39) I1071T probably damaging Het
Fblim1 T C 4: 141,322,549 (GRCm39) Q78R probably damaging Het
Fcamr C T 1: 130,739,284 (GRCm39) P195S probably benign Het
Fcho1 G A 8: 72,161,666 (GRCm39) Q835* probably null Het
Frem3 A G 8: 81,339,741 (GRCm39) N678S probably benign Het
Frk G A 10: 34,483,878 (GRCm39) R413H probably benign Het
Gm10619 C A 7: 73,459,758 (GRCm39) noncoding transcript Het
Gm12185 G A 11: 48,806,583 (GRCm39) R203* probably null Het
Gm12886 A G 4: 121,280,174 (GRCm39) V34A probably benign Het
Gna12 A T 5: 140,746,707 (GRCm39) I246N probably damaging Het
Gpm6a T C 8: 55,507,867 (GRCm39) M201T probably benign Het
Gpsm2 T G 3: 108,608,225 (GRCm39) D220A probably benign Het
Grip2 C G 6: 91,760,623 (GRCm39) V325L probably benign Het
Grk5 C A 19: 61,065,200 (GRCm39) A288D probably damaging Het
Herpud2 G A 9: 25,021,953 (GRCm39) A231V possibly damaging Het
Hmcn1 T C 1: 150,624,834 (GRCm39) S1024G probably benign Het
Hp1bp3 A G 4: 137,957,820 (GRCm39) D295G probably damaging Het
Igsf21 T C 4: 139,761,703 (GRCm39) H325R probably damaging Het
Ing2 T A 8: 48,122,364 (GRCm39) L61F probably damaging Het
Jak3 T C 8: 72,138,590 (GRCm39) probably benign Het
Kcnn3 T A 3: 89,516,712 (GRCm39) C374S probably benign Het
Klk1b22 A G 7: 43,765,775 (GRCm39) probably benign Het
Larp1 T C 11: 57,940,764 (GRCm39) M630T possibly damaging Het
Lhx5 T A 5: 120,572,725 (GRCm39) C115S probably damaging Het
Lmcd1 C A 6: 112,305,712 (GRCm39) T271K probably benign Het
Lpar1 G A 4: 58,486,798 (GRCm39) R158* probably null Het
Lyst T A 13: 13,821,668 (GRCm39) C1347* probably null Het
Map3k8 G A 18: 4,332,389 (GRCm39) Q441* probably null Het
Mboat1 T C 13: 30,403,633 (GRCm39) V144A probably damaging Het
Mcur1 C T 13: 43,713,491 (GRCm39) G38S unknown Het
Med13 T A 11: 86,220,177 (GRCm39) M276L probably benign Het
Mefv A G 16: 3,526,528 (GRCm39) S699P possibly damaging Het
Mfsd4a C A 1: 131,987,077 (GRCm39) A62S probably damaging Het
Mmp27 A G 9: 7,571,459 (GRCm39) M1V probably null Het
Myo1c C T 11: 75,548,415 (GRCm39) T58I probably damaging Het
Myom3 A T 4: 135,538,066 (GRCm39) D1316V probably benign Het
Naa25 T A 5: 121,555,478 (GRCm39) C235S possibly damaging Het
Naa25 C A 5: 121,558,656 (GRCm39) R333S probably damaging Het
Nav3 G A 10: 109,539,233 (GRCm39) T2056I probably benign Het
Nol4 A G 18: 22,902,878 (GRCm39) Y378H probably damaging Het
Npat G A 9: 53,463,589 (GRCm39) R124Q probably damaging Het
Npr3 T A 15: 11,848,665 (GRCm39) E434V probably benign Het
Nptx2 A G 5: 144,485,130 (GRCm39) T208A probably benign Het
Obscn C T 11: 58,968,606 (GRCm39) V2798M probably damaging Het
Odad4 C A 11: 100,460,679 (GRCm39) probably null Het
Or10j7 A T 1: 173,011,976 (GRCm39) H8Q probably benign Het
Or52r1 A G 7: 102,537,250 (GRCm39) Y37H probably benign Het
Or5b122 C T 19: 13,562,779 (GRCm39) T37I probably benign Het
Padi1 G A 4: 140,541,967 (GRCm39) P652S probably damaging Het
Pcdh1 G T 18: 38,331,938 (GRCm39) P355Q probably damaging Het
Pck2 G A 14: 55,781,422 (GRCm39) R189H possibly damaging Het
Pcsk5 T A 19: 17,432,114 (GRCm39) K1500N possibly damaging Het
Phc3 A T 3: 31,002,865 (GRCm39) S218T probably damaging Het
Piezo2 T A 18: 63,239,355 (GRCm39) M510L possibly damaging Het
Polr1g T C 7: 19,091,904 (GRCm39) T68A possibly damaging Het
Ppp1r3a A T 6: 14,754,717 (GRCm39) Y177N probably damaging Het
Psme2b A T 11: 48,836,361 (GRCm39) D195E probably damaging Het
Ptprr T C 10: 116,088,827 (GRCm39) V463A probably damaging Het
Pwwp2b G A 7: 138,836,281 (GRCm39) R574Q probably damaging Het
Rap1gds1 T A 3: 138,756,314 (GRCm39) T14S possibly damaging Het
Rbm11 A T 16: 75,397,685 (GRCm39) K205M probably damaging Het
Rfx1 T A 8: 84,793,050 (GRCm39) probably benign Het
Rnasel C A 1: 153,630,169 (GRCm39) H228Q probably damaging Het
Sap130 T A 18: 31,831,640 (GRCm39) I710K probably benign Het
Slc27a4 C A 2: 29,695,733 (GRCm39) D89E probably benign Het
Spata31d1b T C 13: 59,863,779 (GRCm39) V309A probably benign Het
Syt7 T G 19: 10,421,354 (GRCm39) Y420D probably damaging Het
Tbc1d10b A G 7: 126,802,930 (GRCm39) S333P possibly damaging Het
Tenm2 G A 11: 35,914,209 (GRCm39) P2442S probably damaging Het
Tenm3 C T 8: 49,127,579 (GRCm39) C33Y probably damaging Het
Timmdc1 A G 16: 38,319,419 (GRCm39) L245P possibly damaging Het
Tlr5 T C 1: 182,800,012 (GRCm39) F5L probably benign Het
Ttll4 T A 1: 74,726,999 (GRCm39) F784L possibly damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Txndc17 T A 11: 72,099,571 (GRCm39) N81K probably benign Het
Ubr3 C T 2: 69,830,895 (GRCm39) probably benign Het
Uri1 A C 7: 37,681,116 (GRCm39) V96G probably damaging Het
Uspl1 T A 5: 149,150,246 (GRCm39) I482N probably damaging Het
Vmn1r229 A G 17: 21,034,974 (GRCm39) N73S possibly damaging Het
Vwa7 G T 17: 35,243,388 (GRCm39) G689* probably null Het
Zfp114 T A 7: 23,877,164 (GRCm39) probably null Het
Zfp618 A G 4: 63,051,474 (GRCm39) S659G probably damaging Het
Zfp872 A G 9: 22,111,349 (GRCm39) K275R probably damaging Het
Zzef1 C T 11: 72,777,535 (GRCm39) P1789S probably damaging Het
Other mutations in Tanc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Tanc2 APN 11 105,814,046 (GRCm39) missense probably benign 0.28
IGL00688:Tanc2 APN 11 105,689,516 (GRCm39) missense probably damaging 1.00
IGL00709:Tanc2 APN 11 105,689,621 (GRCm39) missense probably damaging 1.00
IGL01013:Tanc2 APN 11 105,515,891 (GRCm39) missense probably damaging 0.96
IGL01141:Tanc2 APN 11 105,777,300 (GRCm39) splice site probably benign
IGL01386:Tanc2 APN 11 105,777,207 (GRCm39) missense probably damaging 0.99
IGL01433:Tanc2 APN 11 105,701,348 (GRCm39) missense possibly damaging 0.75
IGL01562:Tanc2 APN 11 105,670,895 (GRCm39) missense probably benign 0.00
IGL01979:Tanc2 APN 11 105,667,746 (GRCm39) missense probably benign
IGL02104:Tanc2 APN 11 105,670,959 (GRCm39) unclassified probably benign
IGL02434:Tanc2 APN 11 105,670,868 (GRCm39) missense probably benign 0.14
IGL02534:Tanc2 APN 11 105,725,994 (GRCm39) missense probably damaging 1.00
IGL02568:Tanc2 APN 11 105,667,777 (GRCm39) missense probably benign 0.00
IGL03279:Tanc2 APN 11 105,803,918 (GRCm39) splice site probably null
R0595:Tanc2 UTSW 11 105,605,003 (GRCm39) splice site probably null
R1131:Tanc2 UTSW 11 105,725,828 (GRCm39) missense probably damaging 1.00
R1320:Tanc2 UTSW 11 105,777,270 (GRCm39) missense probably damaging 1.00
R1487:Tanc2 UTSW 11 105,814,460 (GRCm39) missense probably damaging 0.99
R1497:Tanc2 UTSW 11 105,812,963 (GRCm39) missense probably benign 0.21
R1692:Tanc2 UTSW 11 105,748,326 (GRCm39) missense probably benign
R1712:Tanc2 UTSW 11 105,790,606 (GRCm39) missense probably benign
R1812:Tanc2 UTSW 11 105,777,212 (GRCm39) missense probably benign 0.01
R1905:Tanc2 UTSW 11 105,813,689 (GRCm39) missense possibly damaging 0.61
R1959:Tanc2 UTSW 11 105,801,121 (GRCm39) missense probably damaging 1.00
R1962:Tanc2 UTSW 11 105,689,558 (GRCm39) missense probably benign 0.14
R2122:Tanc2 UTSW 11 105,786,775 (GRCm39) missense probably damaging 1.00
R2174:Tanc2 UTSW 11 105,801,135 (GRCm39) missense probably benign 0.00
R2341:Tanc2 UTSW 11 105,725,877 (GRCm39) missense probably benign 0.09
R2497:Tanc2 UTSW 11 105,564,319 (GRCm39) critical splice donor site probably null
R3438:Tanc2 UTSW 11 105,748,401 (GRCm39) missense probably damaging 0.97
R3711:Tanc2 UTSW 11 105,689,516 (GRCm39) missense probably damaging 1.00
R3765:Tanc2 UTSW 11 105,805,796 (GRCm39) missense probably damaging 1.00
R3890:Tanc2 UTSW 11 105,689,504 (GRCm39) missense probably damaging 1.00
R4193:Tanc2 UTSW 11 105,804,888 (GRCm39) intron probably benign
R4609:Tanc2 UTSW 11 105,801,066 (GRCm39) missense probably benign 0.24
R4674:Tanc2 UTSW 11 105,758,306 (GRCm39) missense probably damaging 1.00
R4928:Tanc2 UTSW 11 105,758,588 (GRCm39) missense probably damaging 1.00
R5008:Tanc2 UTSW 11 105,515,886 (GRCm39) start codon destroyed probably null 0.46
R5010:Tanc2 UTSW 11 105,670,918 (GRCm39) missense probably damaging 1.00
R5135:Tanc2 UTSW 11 105,748,379 (GRCm39) missense possibly damaging 0.93
R5385:Tanc2 UTSW 11 105,667,672 (GRCm39) missense probably damaging 0.99
R5409:Tanc2 UTSW 11 105,758,311 (GRCm39) missense possibly damaging 0.93
R5419:Tanc2 UTSW 11 105,813,709 (GRCm39) missense probably benign 0.00
R5501:Tanc2 UTSW 11 105,805,811 (GRCm39) critical splice donor site probably null
R5590:Tanc2 UTSW 11 105,814,132 (GRCm39) missense probably damaging 0.99
R5651:Tanc2 UTSW 11 105,689,526 (GRCm39) missense probably benign 0.44
R5798:Tanc2 UTSW 11 105,812,681 (GRCm39) small deletion probably benign
R5876:Tanc2 UTSW 11 105,813,439 (GRCm39) missense possibly damaging 0.71
R5889:Tanc2 UTSW 11 105,812,633 (GRCm39) missense probably benign 0.23
R5958:Tanc2 UTSW 11 105,731,451 (GRCm39) missense probably benign 0.00
R5999:Tanc2 UTSW 11 105,758,543 (GRCm39) missense probably damaging 1.00
R6024:Tanc2 UTSW 11 105,814,498 (GRCm39) missense probably damaging 1.00
R6024:Tanc2 UTSW 11 105,758,543 (GRCm39) missense probably damaging 1.00
R6025:Tanc2 UTSW 11 105,787,373 (GRCm39) missense possibly damaging 0.68
R6025:Tanc2 UTSW 11 105,758,543 (GRCm39) missense probably damaging 1.00
R6048:Tanc2 UTSW 11 105,758,543 (GRCm39) missense probably damaging 1.00
R6049:Tanc2 UTSW 11 105,758,543 (GRCm39) missense probably damaging 1.00
R6185:Tanc2 UTSW 11 105,803,865 (GRCm39) missense probably damaging 1.00
R6335:Tanc2 UTSW 11 105,748,382 (GRCm39) missense probably damaging 0.99
R6821:Tanc2 UTSW 11 105,777,316 (GRCm39) splice site probably null
R6846:Tanc2 UTSW 11 105,689,479 (GRCm39) missense probably benign 0.34
R6857:Tanc2 UTSW 11 105,801,114 (GRCm39) missense possibly damaging 0.81
R6904:Tanc2 UTSW 11 105,726,056 (GRCm39) missense possibly damaging 0.89
R7009:Tanc2 UTSW 11 105,731,525 (GRCm39) missense possibly damaging 0.47
R7017:Tanc2 UTSW 11 105,813,934 (GRCm39) missense probably benign
R7371:Tanc2 UTSW 11 105,689,422 (GRCm39) missense probably benign
R7556:Tanc2 UTSW 11 105,799,857 (GRCm39) missense
R7630:Tanc2 UTSW 11 105,667,734 (GRCm39) missense probably benign 0.04
R7693:Tanc2 UTSW 11 105,814,293 (GRCm39) missense probably damaging 1.00
R7757:Tanc2 UTSW 11 105,667,684 (GRCm39) missense possibly damaging 0.81
R7807:Tanc2 UTSW 11 105,758,480 (GRCm39) missense probably benign 0.00
R7878:Tanc2 UTSW 11 105,804,241 (GRCm39) missense
R7895:Tanc2 UTSW 11 105,812,651 (GRCm39) missense probably damaging 1.00
R7952:Tanc2 UTSW 11 105,787,423 (GRCm39) missense probably damaging 1.00
R8099:Tanc2 UTSW 11 105,754,833 (GRCm39) missense probably benign 0.17
R8117:Tanc2 UTSW 11 105,725,988 (GRCm39) missense probably damaging 1.00
R8133:Tanc2 UTSW 11 105,814,048 (GRCm39) missense probably damaging 0.97
R8422:Tanc2 UTSW 11 105,726,014 (GRCm39) missense probably benign 0.10
R8527:Tanc2 UTSW 11 105,807,834 (GRCm39) missense probably damaging 0.96
R8542:Tanc2 UTSW 11 105,807,834 (GRCm39) missense probably damaging 0.96
R8834:Tanc2 UTSW 11 105,807,845 (GRCm39) missense
R8912:Tanc2 UTSW 11 105,758,153 (GRCm39) missense probably benign 0.01
R8927:Tanc2 UTSW 11 105,701,331 (GRCm39) missense probably damaging 0.99
R8928:Tanc2 UTSW 11 105,701,331 (GRCm39) missense probably damaging 0.99
R8968:Tanc2 UTSW 11 105,758,400 (GRCm39) missense possibly damaging 0.50
R9065:Tanc2 UTSW 11 105,689,518 (GRCm39) nonsense probably null
R9095:Tanc2 UTSW 11 105,758,104 (GRCm39) missense probably benign 0.00
R9108:Tanc2 UTSW 11 105,810,580 (GRCm39) intron probably benign
R9131:Tanc2 UTSW 11 105,689,603 (GRCm39) missense probably benign
R9294:Tanc2 UTSW 11 105,777,284 (GRCm39) missense probably damaging 0.99
R9445:Tanc2 UTSW 11 105,758,290 (GRCm39) missense possibly damaging 0.80
X0027:Tanc2 UTSW 11 105,726,009 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- AGAGTGAAGCCCAGAATCCC -3'
(R):5'- AGTATTCAAGGGTTCCTACCTCC -3'

Sequencing Primer
(F):5'- CAGGAAAAGTATACTTAGGTTTTGGG -3'
(R):5'- TCAAGGGTTCCTACCTCCTAATAAAG -3'
Posted On 2014-06-23