Incidental Mutation 'R5135:Tanc2'
ID 396150
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 043261-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5135 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 105480812-105820130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105748379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 504 (L504F)
Ref Sequence ENSEMBL: ENSMUSP00000097904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100330]
AlphaFold A2A690
Predicted Effect possibly damaging
Transcript: ENSMUST00000100330
AA Change: L504F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: L504F

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
Meta Mutation Damage Score 0.0716 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (82/84)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik T C 1: 183,765,703 (GRCm39) S119G probably benign Het
4930553M12Rik G T 4: 88,786,508 (GRCm39) H37N unknown Het
Adam10 T A 9: 70,673,356 (GRCm39) C496S probably damaging Het
Aldh18a1 A C 19: 40,543,261 (GRCm39) probably benign Het
Alox5 A G 6: 116,390,747 (GRCm39) F468S probably benign Het
Ankrd50 T C 3: 38,509,952 (GRCm39) H805R probably damaging Het
Ap2s1 T A 7: 16,481,248 (GRCm39) D72E probably damaging Het
Apaf1 T C 10: 90,895,956 (GRCm39) Y372C probably damaging Het
Apob C T 12: 8,060,086 (GRCm39) T2823I probably damaging Het
Bhmt A G 13: 93,763,831 (GRCm39) V70A probably damaging Het
Bltp3b T C 10: 89,625,217 (GRCm39) I48T probably damaging Het
Cdc42bpg T A 19: 6,370,648 (GRCm39) L1247H probably damaging Het
Cel A G 2: 28,449,435 (GRCm39) V264A probably benign Het
Celsr2 T C 3: 108,305,975 (GRCm39) N2043S probably damaging Het
Clca4a A T 3: 144,660,707 (GRCm39) W706R probably damaging Het
Col22a1 G T 15: 71,671,186 (GRCm39) P1058Q unknown Het
Cyp4a14 A G 4: 115,347,157 (GRCm39) probably null Het
Dhx30 T G 9: 109,927,863 (GRCm39) R55S probably damaging Het
Dlgap5 C T 14: 47,637,122 (GRCm39) R452H probably damaging Het
Dnah12 T A 14: 26,492,434 (GRCm39) D1191E probably damaging Het
Dock3 A T 9: 106,810,196 (GRCm39) I164N probably damaging Het
Edrf1 T A 7: 133,252,773 (GRCm39) M436K probably benign Het
Eif2ak2 T A 17: 79,173,774 (GRCm39) Y268F probably damaging Het
Evi2a G A 11: 79,418,277 (GRCm39) T111M possibly damaging Het
Fzd4 A G 7: 89,056,709 (GRCm39) E252G probably damaging Het
Gcm2 A G 13: 41,256,435 (GRCm39) V438A probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm4846 T C 1: 166,311,551 (GRCm39) D436G probably damaging Het
Gm5414 T A 15: 101,536,203 (GRCm39) I141F probably damaging Het
Gm6185 T A 1: 161,025,801 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,750,897 (GRCm39) E776G possibly damaging Het
H2-Ob T A 17: 34,462,490 (GRCm39) V160E probably benign Het
Hormad1 T C 3: 95,492,531 (GRCm39) probably benign Het
Ighv2-1 A T 12: 113,538,082 (GRCm39) probably benign Het
Igkv4-92 A T 6: 68,732,538 (GRCm39) C14S probably benign Het
Iqsec3 T C 6: 121,360,878 (GRCm39) I993M probably damaging Het
Kdm5b T A 1: 134,516,484 (GRCm39) probably benign Het
Kitl T C 10: 99,924,084 (GRCm39) probably null Het
Klhl26 G T 8: 70,905,368 (GRCm39) R100S probably benign Het
Kpna4 C T 3: 69,000,142 (GRCm39) probably null Het
Lama5 T A 2: 179,844,013 (GRCm39) N383Y possibly damaging Het
Large1 T G 8: 73,544,724 (GRCm39) I685L probably benign Het
Larp4b A G 13: 9,220,773 (GRCm39) E590G probably damaging Het
Liph A T 16: 21,774,915 (GRCm39) C425* probably null Het
Lrrc31 A T 3: 30,739,039 (GRCm39) C327* probably null Het
Lrrc36 T C 8: 106,190,530 (GRCm39) V733A probably benign Het
Mmel1 T A 4: 154,966,781 (GRCm39) I83K probably benign Het
Myo16 G T 8: 10,526,114 (GRCm39) V885L probably benign Het
Naip2 A T 13: 100,315,948 (GRCm39) N277K probably damaging Het
Ncapg2 T A 12: 116,391,406 (GRCm39) I485N possibly damaging Het
Npc1l1 A T 11: 6,174,245 (GRCm39) Y687N possibly damaging Het
Obscn A T 11: 59,020,479 (GRCm39) V922E probably damaging Het
Oc90 A G 15: 65,755,679 (GRCm39) S223P probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4a80 A T 2: 89,582,239 (GRCm39) L311H possibly damaging Het
Or4e1 T C 14: 52,701,311 (GRCm39) I52V probably benign Het
Pakap G T 4: 57,855,912 (GRCm39) A414S probably benign Het
Pdlim5 C T 3: 142,010,126 (GRCm39) R174H probably benign Het
Pex5l G T 3: 33,009,980 (GRCm39) A386E probably damaging Het
Plcxd1 T A 5: 110,249,229 (GRCm39) probably benign Het
Pramel12 T G 4: 143,145,579 (GRCm39) S349R probably benign Het
Prl8a1 A T 13: 27,763,802 (GRCm39) probably null Het
Ryr2 G T 13: 11,677,016 (GRCm39) N3278K probably benign Het
Sacm1l A G 9: 123,406,090 (GRCm39) M324V probably benign Het
Sdad1 T C 5: 92,451,793 (GRCm39) T143A probably benign Het
Sec11a A T 7: 80,572,812 (GRCm39) probably benign Het
Sema6a A G 18: 47,424,239 (GRCm39) V223A probably damaging Het
Serpinb6c A G 13: 34,064,080 (GRCm39) V325A probably damaging Het
Slc4a2 G A 5: 24,635,125 (GRCm39) A177T possibly damaging Het
Slc5a4a A G 10: 75,983,428 (GRCm39) N22D unknown Het
Stard13 C T 5: 150,986,232 (GRCm39) W308* probably null Het
Tfap2e G T 4: 126,614,337 (GRCm39) N282K probably damaging Het
Usp36 G T 11: 118,155,731 (GRCm39) T682K possibly damaging Het
Zc3h11a T C 1: 133,561,527 (GRCm39) T315A probably benign Het
Zfa-ps T A 10: 52,419,118 (GRCm39) noncoding transcript Het
Zfp1002 A T 2: 150,097,410 (GRCm39) Y34* probably null Het
Zfp663 A T 2: 165,195,590 (GRCm39) C210S possibly damaging Het
Zfp747 T C 7: 126,973,566 (GRCm39) I201M probably damaging Het
Zic4 C T 9: 91,266,205 (GRCm39) T276M 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
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'- GCTAATAAGCCTGTTTGCAATCTC -3'
(R):5'- CAAGAAAAGTCTTCTGCATGCTG -3'

Sequencing Primer
(F):5'- AATCTCATCTTTCCATAGGTGGTTG -3'
(R):5'- GCATGCTGTACTCTGTAGACATCAG -3'
Posted On 2016-06-21