Incidental Mutation 'R2122:Tanc2'
ID 229594
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 040126-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2122 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 105480812-105820130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105786775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 858 (L858P)
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: L858P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: L858P

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 benign
Transcript: ENSMUST00000146162
SMART Domains Protein: ENSMUSP00000123674
Gene: ENSMUSG00000053580

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: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G T 7: 120,119,184 (GRCm39) G975V probably damaging Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Actl10 G A 2: 154,394,153 (GRCm39) R35H probably damaging Het
Adamts12 C T 15: 11,310,665 (GRCm39) T974I probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef38 T C 3: 132,866,514 (GRCm39) K208E probably benign Het
Arhgef7 A T 8: 11,778,256 (GRCm39) N2I possibly damaging Het
Blvra T G 2: 126,928,817 (GRCm39) S102A probably damaging Het
Btn1a1 A G 13: 23,645,691 (GRCm39) L226P probably damaging Het
C2cd4d G T 3: 94,270,925 (GRCm39) E64* probably null Het
Ccna2 A G 3: 36,622,875 (GRCm39) V209A probably damaging Het
Cd55 T A 1: 130,387,354 (GRCm39) D148V possibly damaging Het
Cdh2 G A 18: 16,907,600 (GRCm39) P46L probably benign Het
Cldn11 A G 3: 31,217,300 (GRCm39) Y156C probably damaging Het
Cmtm2a T C 8: 105,019,655 (GRCm39) R12G possibly damaging Het
Cog2 T C 8: 125,255,724 (GRCm39) S104P possibly damaging Het
Col4a3 T G 1: 82,632,678 (GRCm39) F184V unknown Het
Col4a4 T A 1: 82,434,592 (GRCm39) D1406V unknown Het
Col6a1 T C 10: 76,557,332 (GRCm39) T207A probably benign Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dcdc2a T G 13: 25,303,268 (GRCm39) S266R possibly damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Eif2ak4 T A 2: 118,286,274 (GRCm39) V1063E probably damaging Het
Enpp2 A T 15: 54,761,188 (GRCm39) Y44* probably null Het
Ep400 A T 5: 110,856,716 (GRCm39) probably benign Het
Exoc6b A G 6: 84,598,464 (GRCm39) M779T probably benign Het
F13a1 T A 13: 37,209,653 (GRCm39) Y104F probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Fscn3 A G 6: 28,430,388 (GRCm39) D186G probably benign Het
Gm5773 G A 3: 93,680,624 (GRCm39) G99R possibly damaging Het
Grk1 A T 8: 13,455,221 (GRCm39) Y35F probably benign Het
Heatr1 T C 13: 12,418,145 (GRCm39) V359A probably benign Het
Hfm1 A G 5: 107,044,121 (GRCm39) S567P probably damaging Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Kctd5 T C 17: 24,274,940 (GRCm39) T212A probably benign Het
Krtap5-5 A T 7: 141,783,240 (GRCm39) C137S unknown Het
Lrp2 T C 2: 69,314,051 (GRCm39) T2227A probably damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Map1a T A 2: 121,129,927 (GRCm39) Y248N probably damaging Het
Mdc1 C T 17: 36,158,835 (GRCm39) A405V probably benign Het
Mfsd4b1 T C 10: 39,878,647 (GRCm39) K417E possibly damaging Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Myh11 T C 16: 14,035,868 (GRCm39) E1027G probably damaging Het
Nudt6 A C 3: 37,466,554 (GRCm39) F80L probably benign Het
Nxph1 A G 6: 9,247,791 (GRCm39) K254R probably damaging Het
Obsl1 C T 1: 75,470,527 (GRCm39) R1043H probably benign Het
Or10a4 A T 7: 106,697,316 (GRCm39) I215F probably damaging Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Phldb2 T A 16: 45,583,304 (GRCm39) I1065F probably damaging Het
Ppp1r3a A T 6: 14,721,874 (GRCm39) N317K possibly damaging Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Pum1 C A 4: 130,396,581 (GRCm39) T112K possibly damaging Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Reg3a T C 6: 78,358,119 (GRCm39) C17R possibly damaging Het
Ripor2 A G 13: 24,897,701 (GRCm39) S800G probably damaging Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Rnf31 A G 14: 55,833,654 (GRCm39) D554G probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sacs A T 14: 61,449,765 (GRCm39) Q3937L probably damaging Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Slc20a1 T G 2: 129,041,739 (GRCm39) I34S possibly damaging Het
Slc25a30 A G 14: 76,007,658 (GRCm39) S116P possibly damaging Het
Speer4c1 T A 5: 15,919,115 (GRCm39) D29V possibly damaging Het
Stk40 C T 4: 126,022,640 (GRCm39) T138I probably benign Het
Susd3 A G 13: 49,384,626 (GRCm39) Y254H probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tfpt C T 7: 3,631,930 (GRCm39) R60Q probably damaging Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Tnfsf9 A T 17: 57,414,316 (GRCm39) probably null Het
Ube3c T C 5: 29,824,604 (GRCm39) I543T probably benign Het
Ugt1a2 C A 1: 88,128,735 (GRCm39) S126Y possibly damaging Het
Vmn1r180 T A 7: 23,652,566 (GRCm39) L243Q probably damaging Het
Vmn2r15 A C 5: 109,434,322 (GRCm39) V794G probably damaging Het
Vmn2r24 A G 6: 123,792,353 (GRCm39) D560G possibly damaging Het
Wdr11 G A 7: 129,233,490 (GRCm39) C1028Y probably damaging Het
Zfp318 A G 17: 46,724,297 (GRCm39) D2100G probably benign Het
Zfyve16 A T 13: 92,655,991 (GRCm39) Y789* probably null 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
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'- AGGGGCCACTCACTCATTACTG -3'
(R):5'- TCCAATAGCCTCAGTCCATCAG -3'

Sequencing Primer
(F):5'- AGTTCAGCCTGGTGTACACAG -3'
(R):5'- AGTCCATCAGAATAAAACAGCAATG -3'
Posted On 2014-09-17