Incidental Mutation 'R4609:Tanc2'
ID 344535
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 041820-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4609 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 105480812-105820130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105801066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1094 (N1094S)
Ref Sequence ENSEMBL: ENSMUSP00000097904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100330]
AlphaFold A2A690
Predicted Effect unknown
Transcript: ENSMUST00000089485
AA Change: N138S
SMART Domains Protein: ENSMUSP00000086912
Gene: ENSMUSG00000053580
AA Change: N138S

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: N1094S

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: N1094S

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: N226S
SMART Domains Protein: ENSMUSP00000123674
Gene: ENSMUSG00000053580
AA Change: N226S

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 0.1831 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 99% (78/79)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7530416G11Rik T C 15: 85,378,370 (GRCm39) D91G unknown Het
Adam10 T C 9: 70,647,425 (GRCm39) Y42H probably damaging Het
Baiap3 A T 17: 25,469,235 (GRCm39) C183S probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bmp1 C T 14: 70,715,406 (GRCm39) V910M probably benign Het
Brdt G A 5: 107,507,802 (GRCm39) A677T probably benign Het
Cadps2 A T 6: 23,587,578 (GRCm39) M304K probably damaging Het
Car9 A T 4: 43,507,267 (GRCm39) D71V possibly damaging Het
Chml A T 1: 175,514,723 (GRCm39) Y399* probably null Het
Cilk1 T A 9: 78,075,071 (GRCm39) probably benign Het
Clasp1 A G 1: 118,430,765 (GRCm39) probably benign Het
Cntnap5b G A 1: 99,700,572 (GRCm39) probably null Het
Cpvl A T 6: 53,951,605 (GRCm39) probably null Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Cxcl16 T C 11: 70,346,255 (GRCm39) Y226C probably damaging Het
Dio3 G T 12: 110,246,444 (GRCm39) R260L probably damaging Het
Dmxl2 A G 9: 54,353,796 (GRCm39) L724P probably damaging Het
Dnah7a A C 1: 53,495,816 (GRCm39) F3214V possibly damaging Het
Dpy19l4 A T 4: 11,295,999 (GRCm39) Y223* probably null Het
Dpysl4 T C 7: 138,678,537 (GRCm39) V499A probably damaging Het
Ets2 A T 16: 95,512,818 (GRCm39) K101N probably benign Het
Fbn2 A T 18: 58,323,341 (GRCm39) Y200* probably null Het
Fem1c A T 18: 46,639,015 (GRCm39) I329N probably damaging Het
Fhip1b A G 7: 105,037,431 (GRCm39) I384T probably damaging Het
Gm8919 T C 3: 11,724,530 (GRCm39) noncoding transcript Het
H2-Q5 A T 17: 35,616,056 (GRCm39) H206L probably benign Het
Hexa T C 9: 59,464,602 (GRCm39) F164S probably benign Het
Hk1 G T 10: 62,194,194 (GRCm39) probably benign Het
Itih4 G A 14: 30,623,626 (GRCm39) G915R probably damaging Het
Kcnq5 A T 1: 21,475,292 (GRCm39) probably null Het
Krtap10-4 A T 10: 77,662,630 (GRCm39) probably benign Het
Maml3 G T 3: 51,763,013 (GRCm39) H650Q probably damaging Het
Mief1 C A 15: 80,132,454 (GRCm39) P112Q probably benign Het
Morc3 A G 16: 93,661,856 (GRCm39) E472G probably benign Het
Nap1l1 T A 10: 111,328,741 (GRCm39) Y223* probably null Het
Nfix A T 8: 85,453,119 (GRCm39) W312R probably damaging Het
Nfkbie A T 17: 45,869,510 (GRCm39) N155I probably damaging Het
Nlgn2 A T 11: 69,724,912 (GRCm39) M118K probably damaging Het
Nlrp5 A T 7: 23,117,173 (GRCm39) Y299F probably benign Het
Nnt T C 13: 119,494,072 (GRCm39) I556V possibly damaging Het
Oasl2 A T 5: 115,037,857 (GRCm39) I85F possibly damaging Het
Ogg1 A C 6: 113,305,393 (GRCm39) T69P probably damaging Het
Olfml2a G T 2: 38,847,733 (GRCm39) V431L probably damaging Het
Or4d5 T C 9: 40,012,102 (GRCm39) H228R possibly damaging Het
Or5p79 A T 7: 108,221,711 (GRCm39) M231L probably benign Het
Palb2 G T 7: 121,723,946 (GRCm39) A601E probably benign Het
Pcdhb20 G A 18: 37,638,849 (GRCm39) M458I probably benign Het
Pde11a T C 2: 76,121,585 (GRCm39) D332G possibly damaging Het
Pkd1l1 C T 11: 8,908,964 (GRCm39) E347K unknown Het
Pou2af1 G A 9: 51,149,525 (GRCm39) V206I possibly damaging Het
Prr16 A G 18: 51,251,139 (GRCm39) D46G possibly damaging Het
Pus1 A G 5: 110,928,184 (GRCm39) M1T probably null Het
Pygm T A 19: 6,441,439 (GRCm39) V566D possibly damaging Het
Rb1 T A 14: 73,499,954 (GRCm39) probably benign Het
Rhoj A T 12: 75,446,980 (GRCm39) K200* probably null Het
Rnf213 A G 11: 119,328,521 (GRCm39) I1985V possibly damaging Het
Septin11 G T 5: 93,310,113 (GRCm39) M305I possibly damaging Het
Setdb2 T C 14: 59,653,153 (GRCm39) Y383C probably damaging Het
Sfpq G C 4: 126,915,404 (GRCm39) Q65H unknown Het
Skic8 A G 9: 54,635,463 (GRCm39) V46A probably benign Het
Stard3nl G T 13: 19,554,434 (GRCm39) A180E probably damaging Het
Trf C T 9: 103,089,184 (GRCm39) A554T possibly damaging Het
Trmt13 T C 3: 116,388,476 (GRCm39) probably benign Het
Tubb3 A G 8: 124,147,658 (GRCm39) D197G probably damaging Het
Ube2e3 A G 2: 78,749,056 (GRCm39) H135R probably damaging Het
Ugt1a10 A T 1: 87,983,204 (GRCm39) M1L possibly damaging Het
Vmn1r233 A T 17: 21,214,677 (GRCm39) I91N possibly damaging Het
Vmn2r88 A T 14: 51,655,531 (GRCm39) D580V probably damaging Het
Vps33b A G 7: 79,940,866 (GRCm39) Y593C probably benign Het
Wdr19 A G 5: 65,385,885 (GRCm39) T622A possibly damaging Het
Wdr3 C T 3: 100,047,516 (GRCm39) R853Q probably damaging Het
Xirp1 T C 9: 119,845,572 (GRCm39) T1104A probably benign Het
Yipf1 G A 4: 107,201,880 (GRCm39) probably null Het
Zbtb17 A G 4: 141,193,809 (GRCm39) D651G probably damaging Het
Zbtb42 C T 12: 112,646,976 (GRCm39) R384W probably damaging Het
Zbtb43 A T 2: 33,344,055 (GRCm39) M390K probably benign Het
Zfp462 C T 4: 55,011,889 (GRCm39) T1285M 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
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'- GTACAGAAAGTCTTAAGTAGGTTGC -3'
(R):5'- CAGGAGCATCTGGTTTTGCG -3'

Sequencing Primer
(F):5'- TTAAGTAGGTTGCTACAATAGAAAGC -3'
(R):5'- TTTGAACTCAGGACCTCTGGAAG -3'
Posted On 2015-09-25