Incidental Mutation 'R7017:Tanc2'
ID 545394
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 045118-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7017 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 105480812-105820130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105813934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1793 (I1793V)
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 benign
Transcript: ENSMUST00000100330
AA Change: I1793V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: I1793V

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
SMART Domains Protein: ENSMUSP00000123674
Gene: ENSMUSG00000053580
AA Change: I935V

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik A G 17: 37,288,926 (GRCm39) probably benign Het
Acot3 A T 12: 84,100,077 (GRCm39) probably benign Het
Add3 T A 19: 53,222,284 (GRCm39) V297E possibly damaging Het
Arfgap1 C G 2: 180,618,097 (GRCm39) probably null Het
Cacna1i T C 15: 80,264,671 (GRCm39) F1500L probably damaging Het
Cacna1s T C 1: 136,023,596 (GRCm39) I945T probably damaging Het
Ccdc180 T A 4: 45,940,934 (GRCm39) N1334K possibly damaging Het
Cd5l C A 3: 87,273,368 (GRCm39) Y112* probably null Het
Cracd GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GAGACAACGCGAGGCCGAGAGGCAGG 5: 77,004,795 (GRCm39) probably benign Het
Cyp2d40 A T 15: 82,644,234 (GRCm39) F297Y unknown Het
Ddx4 C T 13: 112,738,022 (GRCm39) V546I probably damaging Het
Dgkg T C 16: 22,391,463 (GRCm39) M332V probably benign Het
Dnah12 T C 14: 26,456,835 (GRCm39) I867T probably benign Het
Dnah2 T A 11: 69,382,373 (GRCm39) K1246* probably null Het
Drd2 G A 9: 49,312,129 (GRCm39) V161I probably benign Het
Dsp A G 13: 38,370,683 (GRCm39) D862G probably benign Het
Ephx4 T C 5: 107,553,980 (GRCm39) F10S probably damaging Het
Fabp9 C A 3: 10,259,756 (GRCm39) A76S possibly damaging Het
Fat4 G A 3: 38,945,692 (GRCm39) M1528I probably benign Het
Fbxl12 A G 9: 20,529,616 (GRCm39) S84P unknown Het
Fbxo40 T C 16: 36,790,732 (GRCm39) D126G probably damaging Het
Fpr1 C T 17: 18,097,654 (GRCm39) V112I probably benign Het
Frem2 T C 3: 53,427,023 (GRCm39) N2975S probably benign Het
Gask1a T C 9: 121,795,052 (GRCm39) probably null Het
Gm7945 T C 14: 41,105,610 (GRCm39) Y156C Het
Gnpat T C 8: 125,590,014 (GRCm39) V13A probably benign Het
Gpx5 G A 13: 21,475,561 (GRCm39) P55L probably damaging Het
Hbp1 A G 12: 31,993,852 (GRCm39) S59P probably damaging Het
Ighv1-36 T A 12: 114,843,533 (GRCm39) D109V probably damaging Het
Iqcf5 T A 9: 106,392,863 (GRCm39) I40N possibly damaging Het
Kcnma1 T G 14: 23,544,711 (GRCm39) I484L possibly damaging Het
Kera A T 10: 97,444,939 (GRCm39) R99S possibly damaging Het
Kif3b T A 2: 153,171,644 (GRCm39) S707R possibly damaging Het
Lilra6 G T 7: 3,911,707 (GRCm39) T317N possibly damaging Het
Lrrc15 C T 16: 30,091,780 (GRCm39) E520K probably benign Het
Lrrc34 C T 3: 30,699,465 (GRCm39) probably null Het
Lvrn A G 18: 46,983,745 (GRCm39) T163A probably benign Het
Met T A 6: 17,491,286 (GRCm39) L16* probably null Het
Mpzl2 G T 9: 44,958,587 (GRCm39) D108Y probably benign Het
Mrgprb2 T A 7: 48,202,585 (GRCm39) I47F probably benign Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Mybphl T A 3: 108,282,154 (GRCm39) V128E probably damaging Het
Nckap5 A T 1: 126,030,398 (GRCm39) D231E probably damaging Het
Or5g23 T A 2: 85,438,673 (GRCm39) M194L probably benign Het
Orm1 T A 4: 63,263,448 (GRCm39) I87K probably benign Het
Pdgfrb C T 18: 61,214,076 (GRCm39) P954S probably benign Het
Pdzd8 G T 19: 59,333,784 (GRCm39) S79* probably null Het
Pdzd9 T A 7: 120,262,225 (GRCm39) H79L probably benign Het
Plcg1 A T 2: 160,600,017 (GRCm39) I926F probably damaging Het
Plec A T 15: 76,057,741 (GRCm39) F4078L probably damaging Het
Plek G A 11: 17,002,220 (GRCm39) probably benign Het
Pogz T C 3: 94,761,335 (GRCm39) I25T probably damaging Het
Ppfia3 A T 7: 45,008,224 (GRCm39) D215E probably benign Het
Psg22 C A 7: 18,458,366 (GRCm39) S352R probably benign Het
Ptchd4 A G 17: 42,813,626 (GRCm39) Y509C probably damaging Het
Ralgapb C A 2: 158,290,257 (GRCm39) N389K probably benign Het
Rdh1 A G 10: 127,598,906 (GRCm39) D129G probably benign Het
Rimbp3 A G 16: 17,027,610 (GRCm39) T345A probably benign Het
S100a14 T C 3: 90,434,602 (GRCm39) probably null Het
Scamp1 T A 13: 94,361,423 (GRCm39) R152S probably damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Srf T C 17: 46,861,830 (GRCm39) T383A probably benign Het
St6galnac5 T C 3: 152,552,040 (GRCm39) M176V probably damaging Het
St8sia1 C A 6: 142,813,632 (GRCm39) V177F probably damaging Het
Syt12 C T 19: 4,510,895 (GRCm39) probably null Het
Tas2r123 A G 6: 132,824,513 (GRCm39) I137V probably benign Het
Tenm2 T A 11: 36,062,236 (GRCm39) Y543F probably damaging Het
Tent5b T C 4: 133,213,545 (GRCm39) S139P possibly damaging Het
Tgfbr1 T C 4: 47,410,728 (GRCm39) I488T probably damaging Het
Tgm1 T A 14: 55,942,398 (GRCm39) Y651F possibly damaging Het
Thbs3 A T 3: 89,131,722 (GRCm39) D698V probably damaging Het
Tpra1 T A 6: 88,885,294 (GRCm39) I82N probably damaging Het
Ubr4 T A 4: 139,120,401 (GRCm39) D275E probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wwp1 T C 4: 19,623,124 (GRCm39) Y787C probably damaging Het
Znfx1 T C 2: 166,890,454 (GRCm39) S677G 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
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
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'- AAAACTAGATCTGGAGCGTTCCTC -3'
(R):5'- TCCGATTCTGCTGGTGAAGG -3'

Sequencing Primer
(F):5'- AGCGTTCCTCCAGCCAG -3'
(R):5'- TCTATGATCCCCATGAATGGTG -3'
Posted On 2019-05-13