Incidental Mutation 'R1487:Tanc2'
ID 163549
Institutional Source Beutler Lab
Gene Symbol Tanc2
Ensembl Gene ENSMUSG00000053580
Gene Name tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
Synonyms 5730590C14Rik, 3526402J09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1487 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 105480812-105820130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105814460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1968 (Y1968C)
Ref Sequence ENSEMBL: ENSMUSP00000097904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100330]
AlphaFold A2A690
Predicted Effect probably benign
Transcript: ENSMUST00000089485
SMART Domains Protein: ENSMUSP00000086912
Gene: ENSMUSG00000053580

DomainStartEndE-ValueType
ANK 35 63 1.16e3 SMART
ANK 78 107 3.31e-1 SMART
ANK 111 140 7.71e-2 SMART
ANK 144 173 6.12e-5 SMART
ANK 177 206 8.99e-3 SMART
ANK 210 239 5.71e-5 SMART
ANK 243 272 2.11e2 SMART
Blast:TPR 289 322 3e-14 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000100330
AA Change: Y1968C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: Y1968C

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 unknown
Transcript: ENSMUST00000146162
AA Change: Y1110C
SMART Domains Protein: ENSMUSP00000123674
Gene: ENSMUSG00000053580
AA Change: Y1110C

DomainStartEndE-ValueType
ANK 15 46 2.97e2 SMART
ANK 50 79 5.75e-1 SMART
ANK 83 112 8.62e1 SMART
ANK 123 151 1.16e3 SMART
ANK 166 195 3.31e-1 SMART
ANK 199 228 7.71e-2 SMART
ANK 232 261 6.12e-5 SMART
ANK 265 294 8.99e-3 SMART
ANK 298 327 5.71e-5 SMART
ANK 331 360 3.44e1 SMART
TPR 387 420 3.89e1 SMART
TPR 434 467 3.61e-2 SMART
TPR 468 501 2.82e-4 SMART
low complexity region 512 549 N/A INTRINSIC
low complexity region 676 682 N/A INTRINSIC
low complexity region 930 945 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A C 6: 146,854,877 (GRCm39) V55G probably benign Het
Abhd13 A G 8: 10,037,402 (GRCm39) probably benign Het
Arid5b T A 10: 67,933,044 (GRCm39) K953* probably null Het
Armh3 A C 19: 45,928,882 (GRCm39) probably null Het
B4galt6 A G 18: 20,839,571 (GRCm39) V121A possibly damaging Het
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Calu A G 6: 29,366,955 (GRCm39) I208V probably benign Het
Cd14 T C 18: 36,858,537 (GRCm39) N306S probably benign Het
Cdc16 T A 8: 13,821,445 (GRCm39) N415K probably benign Het
Cfap57 C A 4: 118,471,978 (GRCm39) V134F probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Chtf18 T C 17: 25,939,583 (GRCm39) K67R probably benign Het
Clock T C 5: 76,414,201 (GRCm39) probably null Het
Cplane1 C T 15: 8,215,715 (GRCm39) R424W probably damaging Het
Eif4g1 G A 16: 20,497,623 (GRCm39) probably benign Het
Eps8l2 A T 7: 140,941,531 (GRCm39) M601L probably benign Het
Fat4 A G 3: 39,050,066 (GRCm39) E3976G possibly damaging Het
Flrt3 T A 2: 140,502,854 (GRCm39) H258L probably damaging Het
Flt4 C A 11: 49,523,971 (GRCm39) T517K possibly damaging Het
Galnt7 T C 8: 57,993,073 (GRCm39) N416S probably damaging Het
Gipc1 C T 8: 84,387,808 (GRCm39) Q63* probably null Het
Gm17079 A T 14: 51,930,542 (GRCm39) probably null Het
Gucy2c T A 6: 136,725,824 (GRCm39) I375F possibly damaging Het
Hps4 C T 5: 112,525,865 (GRCm39) Q629* probably null Het
Hunk A G 16: 90,183,525 (GRCm39) Y61C probably damaging Het
Itga6 T C 2: 71,673,584 (GRCm39) S873P possibly damaging Het
Kcnc1 A G 7: 46,047,298 (GRCm39) H66R possibly damaging Het
Kcnc1 T C 7: 46,084,772 (GRCm39) probably null Het
Khdc3 A G 9: 73,009,846 (GRCm39) T19A probably benign Het
Kmt2a T C 9: 44,745,287 (GRCm39) probably benign Het
Lipe C T 7: 25,084,240 (GRCm39) A615T possibly damaging Het
Lrguk A T 6: 34,039,295 (GRCm39) M269L probably benign Het
Lrrc18 A G 14: 32,730,640 (GRCm39) N60D probably damaging Het
Magi1 T C 6: 93,685,060 (GRCm39) T773A probably benign Het
Map3k14 T A 11: 103,116,163 (GRCm39) D755V possibly damaging Het
Mecom T C 3: 30,034,213 (GRCm39) T488A probably damaging Het
Mmp10 T G 9: 7,509,978 (GRCm39) W473G probably damaging Het
Mrgpra2a C T 7: 47,076,434 (GRCm39) V275I probably benign Het
Myo7a A C 7: 97,703,017 (GRCm39) probably null Het
Nadsyn1 C T 7: 143,360,662 (GRCm39) V369I probably benign Het
Nptxr C A 15: 79,674,104 (GRCm39) G424V probably damaging Het
Nrg2 C T 18: 36,185,965 (GRCm39) G258E possibly damaging Het
Nup210 G A 6: 91,019,558 (GRCm39) P221S probably damaging Het
Odad2 A T 18: 7,273,245 (GRCm39) Y282N probably damaging Het
Or52a33 T A 7: 103,288,801 (GRCm39) H182L probably damaging Het
Or6c208 T C 10: 129,224,209 (GRCm39) F236L probably benign Het
Oxct1 A G 15: 4,177,057 (GRCm39) D477G possibly damaging Het
Pcdh8 G T 14: 80,006,987 (GRCm39) D525E probably damaging Het
Phldb2 A G 16: 45,609,387 (GRCm39) S740P probably damaging Het
Prss54 A G 8: 96,286,276 (GRCm39) S266P probably benign Het
Ptprh T A 7: 4,555,737 (GRCm39) I741F probably damaging Het
Rab11fip1 G T 8: 27,644,240 (GRCm39) S515Y probably damaging Het
Recql4 T A 15: 76,593,183 (GRCm39) N309I probably benign Het
Sec24a T C 11: 51,622,713 (GRCm39) T388A possibly damaging Het
Setd6 T A 8: 96,444,556 (GRCm39) L83H probably damaging Het
Slc6a12 G A 6: 121,340,716 (GRCm39) W534* probably null Het
St14 C T 9: 31,008,476 (GRCm39) C488Y probably damaging Het
Supt16 A G 14: 52,414,065 (GRCm39) probably null Het
Tcaim T A 9: 122,647,897 (GRCm39) Y137* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpm3 A T 3: 89,997,389 (GRCm39) probably null Het
Trip12 A T 1: 84,746,352 (GRCm39) N475K probably damaging Het
Twnk G T 19: 44,996,815 (GRCm39) probably null Het
Zfp287 T C 11: 62,616,115 (GRCm39) K192R probably damaging Het
Zfp799 G T 17: 33,039,651 (GRCm39) T204N possibly 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
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
R1793:Tanc2 UTSW 11 105,515,859 (GRCm39) critical splice acceptor site probably null
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'- GCTGGAGGACGATTATTACAGCCC -3'
(R):5'- CGAGAAACTGAAGTCCTGGCTCAC -3'

Sequencing Primer
(F):5'- TATCCTGATGTGAAGGTGGC -3'
(R):5'- TCAACATGTGGGCTGTCACC -3'
Posted On 2014-03-28