Incidental Mutation 'R6185:Tanc2'
ID 502124
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 044325-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6185 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 105480812-105820130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105803865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 297 (N297K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100330]
AlphaFold A2A690
Predicted Effect probably damaging
Transcript: ENSMUST00000089485
AA Change: N209K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086912
Gene: ENSMUSG00000053580
AA Change: N209K

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 benign
Transcript: ENSMUST00000100330
AA Change: N1165K

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: N1165K

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 damaging
Transcript: ENSMUST00000146162
AA Change: N297K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123674
Gene: ENSMUSG00000053580
AA Change: N297K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147975
Meta Mutation Damage Score 0.0863 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (80/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,078,089 (GRCm39) H894Q probably benign Het
Abca4 A T 3: 121,919,789 (GRCm39) I1024F probably damaging Het
Acadl A G 1: 66,877,522 (GRCm39) V343A possibly damaging Het
Akr1e1 T A 13: 4,651,252 (GRCm39) I123L probably benign Het
Angptl2 T C 2: 33,119,026 (GRCm39) S267P probably benign Het
Ap2a1 T G 7: 44,565,594 (GRCm39) K91T probably damaging Het
Bend7 A T 2: 4,793,333 (GRCm39) Q379L probably damaging Het
Bicdl1 C T 5: 115,808,212 (GRCm39) probably null Het
Cachd1 C A 4: 100,838,228 (GRCm39) Y830* probably null Het
Ccdc158 T A 5: 92,814,713 (GRCm39) I38F possibly damaging Het
Cep97 T A 16: 55,735,455 (GRCm39) M448L probably benign Het
Chd9 A G 8: 91,775,765 (GRCm39) D2572G probably damaging Het
Clcnkb C T 4: 141,141,825 (GRCm39) V54M probably benign Het
Cln8 A G 8: 14,946,544 (GRCm39) D186G probably benign Het
Crxos C T 7: 15,636,805 (GRCm39) S22L possibly damaging Het
Cx3cr1 A T 9: 119,880,444 (GRCm39) H319Q probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Dmrta1 A G 4: 89,580,005 (GRCm39) R322G probably damaging Het
Dpf1 A G 7: 29,010,696 (GRCm39) E103G possibly damaging Het
Dsg1b T G 18: 20,532,543 (GRCm39) V529G probably benign Het
Dst G A 1: 34,212,161 (GRCm39) V1361I probably damaging Het
Epha4 T C 1: 77,483,743 (GRCm39) I89V probably damaging Het
Etfdh G T 3: 79,513,114 (GRCm39) H370N probably benign Het
Fam186a A G 15: 99,845,530 (GRCm39) I238T unknown Het
Fbxl5 T A 5: 43,978,894 (GRCm39) S19C probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fryl A G 5: 73,270,131 (GRCm39) V367A probably benign Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Gm19965 A G 1: 116,749,003 (GRCm39) E228G possibly damaging Het
Gpr89 C A 3: 96,798,149 (GRCm39) C169F probably damaging Het
Hmcn1 A T 1: 150,491,189 (GRCm39) probably null Het
Hsph1 A T 5: 149,541,160 (GRCm39) C753S probably damaging Het
Igf2 T A 7: 142,212,118 (GRCm39) S4C possibly damaging Het
Kansl3 A T 1: 36,385,099 (GRCm39) S486T probably damaging Het
Khdrbs1 G C 4: 129,636,068 (GRCm39) probably benign Het
Lnx1 A T 5: 74,846,269 (GRCm39) C60* probably null Het
Lrpprc T C 17: 85,074,452 (GRCm39) D485G probably benign Het
Ly6i A T 15: 74,851,879 (GRCm39) S97T possibly damaging Het
Me2 G A 18: 73,924,199 (GRCm39) Q338* probably null Het
Med16 A T 10: 79,732,197 (GRCm39) L790Q probably damaging Het
Muc16 G T 9: 18,565,769 (GRCm39) T2250K unknown Het
Myo10 T G 15: 25,726,596 (GRCm39) F273C probably damaging Het
Neil3 T A 8: 54,052,182 (GRCm39) H472L probably benign Het
Nrxn1 T A 17: 90,344,564 (GRCm39) S57C probably damaging Het
Nup188 A T 2: 30,231,722 (GRCm39) T1439S probably damaging Het
Or10g3 T C 14: 52,610,019 (GRCm39) T164A possibly damaging Het
Or10g7 T C 9: 39,905,420 (GRCm39) F105L probably benign Het
Or5w10 A G 2: 87,375,087 (GRCm39) M267T possibly damaging Het
Otud7a T A 7: 63,408,133 (GRCm39) L812Q probably damaging Het
Paip2b C T 6: 83,786,952 (GRCm39) A95T probably benign Het
Pax4 C T 6: 28,446,347 (GRCm39) V49I probably damaging Het
Plek C T 11: 16,931,829 (GRCm39) A341T probably damaging Het
Prkag1 G A 15: 98,723,595 (GRCm39) P10L probably benign Het
R3hdm1 A C 1: 128,079,598 (GRCm39) D15A possibly damaging Het
Rad54b A T 4: 11,593,804 (GRCm39) D144V possibly damaging Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Sbf1 A G 15: 89,189,814 (GRCm39) L379P probably damaging Het
Sec14l3 A T 11: 4,025,244 (GRCm39) I285F probably damaging Het
Sec31b A T 19: 44,531,723 (GRCm39) I62N possibly damaging Het
Selp A G 1: 163,953,915 (GRCm39) N72D probably damaging Het
Sipa1l1 T A 12: 82,471,802 (GRCm39) S1261T probably damaging Het
Sipa1l2 A T 8: 126,194,992 (GRCm39) Y915* probably null Het
Slc22a27 A T 19: 7,903,953 (GRCm39) D61E probably benign Het
Slc2a7 A G 4: 150,233,450 (GRCm39) T8A probably benign Het
Slc5a2 T C 7: 127,870,349 (GRCm39) I529T probably damaging Het
Spart A C 3: 55,024,640 (GRCm39) Q78H probably damaging Het
Spocd1 T C 4: 129,850,242 (GRCm39) I756T probably benign Het
Stc1 G A 14: 69,275,813 (GRCm39) C202Y probably damaging Het
Stk10 A G 11: 32,527,749 (GRCm39) T166A probably benign Het
Syt6 A T 3: 103,492,844 (GRCm39) D32V probably damaging Het
Tanc1 T A 2: 59,621,929 (GRCm39) probably null Het
Telo2 A G 17: 25,321,014 (GRCm39) S734P probably benign Het
Tfrc T A 16: 32,437,090 (GRCm39) Y250N probably benign Het
Tmem97 C T 11: 78,434,388 (GRCm39) W65* probably null Het
Ubr3 T C 2: 69,768,621 (GRCm39) M476T probably damaging Het
Ubtf T C 11: 102,204,849 (GRCm39) T117A probably damaging Het
Usp17lb T A 7: 104,490,631 (GRCm39) M99L probably benign Het
Uvrag A C 7: 98,790,039 (GRCm39) probably null Het
Vmn2r63 A G 7: 42,578,435 (GRCm39) S153P probably damaging Het
Vmn2r90 A T 17: 17,953,644 (GRCm39) T603S probably damaging Het
Vps8 C A 16: 21,288,891 (GRCm39) L417I 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
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
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'- AGTGTCCTCAGTCCTGTTAAAAC -3'
(R):5'- TCAAACTGCTTGTCTGAACCAG -3'

Sequencing Primer
(F):5'- TAGCTGGGCTTGTCTGAA -3'
(R):5'- AAACTGCTTGTCTGAACCAGTATCTC -3'
Posted On 2018-02-27