Incidental Mutation 'R5338:Tanc1'
ID 423607
Institutional Source Beutler Lab
Gene Symbol Tanc1
Ensembl Gene ENSMUSG00000035168
Gene Name tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1
Synonyms 1200003E16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5338 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 59442386-59676493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59626178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 512 (T512S)
Ref Sequence ENSEMBL: ENSMUSP00000123345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037526] [ENSMUST00000112568] [ENSMUST00000139863]
AlphaFold Q0VGY8
Predicted Effect probably damaging
Transcript: ENSMUST00000037526
AA Change: T512S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036003
Gene: ENSMUSG00000035168
AA Change: T512S

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
low complexity region 60 78 N/A INTRINSIC
low complexity region 171 191 N/A INTRINSIC
low complexity region 229 240 N/A INTRINSIC
low complexity region 439 451 N/A INTRINSIC
low complexity region 455 475 N/A INTRINSIC
ANK 893 925 1.06e3 SMART
ANK 929 960 2.43e3 SMART
ANK 964 993 1.12e-3 SMART
Blast:ANK 997 1028 7e-12 BLAST
ANK 1037 1066 1.78e3 SMART
ANK 1075 1104 2.34e-1 SMART
ANK 1108 1137 3.71e-4 SMART
ANK 1141 1170 1.51e-4 SMART
ANK 1174 1203 4.89e-4 SMART
ANK 1207 1236 3.01e-4 SMART
ANK 1240 1269 1.99e2 SMART
TPR 1286 1319 7.49e1 SMART
TPR 1333 1366 2.35e-1 SMART
TPR 1367 1400 6.29e-2 SMART
low complexity region 1416 1432 N/A INTRINSIC
low complexity region 1454 1483 N/A INTRINSIC
low complexity region 1656 1686 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000056900
Predicted Effect probably damaging
Transcript: ENSMUST00000112568
AA Change: T505S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108187
Gene: ENSMUSG00000035168
AA Change: T505S

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
low complexity region 60 78 N/A INTRINSIC
low complexity region 171 191 N/A INTRINSIC
low complexity region 229 240 N/A INTRINSIC
low complexity region 432 444 N/A INTRINSIC
low complexity region 448 468 N/A INTRINSIC
ANK 886 918 1.06e3 SMART
ANK 922 953 2.43e3 SMART
ANK 957 986 1.12e-3 SMART
Blast:ANK 990 1021 7e-12 BLAST
ANK 1030 1059 1.78e3 SMART
ANK 1068 1097 2.34e-1 SMART
ANK 1101 1130 3.71e-4 SMART
ANK 1134 1163 1.51e-4 SMART
ANK 1167 1196 4.89e-4 SMART
ANK 1200 1229 3.01e-4 SMART
ANK 1233 1262 1.99e2 SMART
TPR 1279 1312 7.49e1 SMART
TPR 1326 1359 2.35e-1 SMART
TPR 1360 1393 6.29e-2 SMART
low complexity region 1409 1425 N/A INTRINSIC
low complexity region 1447 1476 N/A INTRINSIC
low complexity region 1649 1679 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139863
AA Change: T512S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123345
Gene: ENSMUSG00000035168
AA Change: T512S

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
low complexity region 60 78 N/A INTRINSIC
low complexity region 171 191 N/A INTRINSIC
low complexity region 229 240 N/A INTRINSIC
low complexity region 439 451 N/A INTRINSIC
low complexity region 455 475 N/A INTRINSIC
ANK 893 925 1.06e3 SMART
ANK 929 960 2.43e3 SMART
ANK 964 993 1.12e-3 SMART
Blast:ANK 997 1028 7e-12 BLAST
ANK 1037 1066 1.78e3 SMART
ANK 1075 1104 2.34e-1 SMART
ANK 1108 1137 3.71e-4 SMART
ANK 1141 1170 1.51e-4 SMART
ANK 1174 1203 4.89e-4 SMART
ANK 1207 1236 3.01e-4 SMART
ANK 1240 1269 1.99e2 SMART
TPR 1286 1319 7.49e1 SMART
TPR 1333 1366 2.35e-1 SMART
TPR 1367 1400 6.29e-2 SMART
low complexity region 1416 1432 N/A INTRINSIC
low complexity region 1454 1483 N/A INTRINSIC
low complexity region 1656 1686 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap vector exhibit decreased spine density in the CA3 region and impaired spatial memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T A 9: 99,502,597 (GRCm39) N252K probably damaging Het
Abhd16a A G 17: 35,313,278 (GRCm39) E132G probably damaging Het
Adgrv1 G A 13: 81,677,165 (GRCm39) R1889W possibly damaging Het
Aftph A T 11: 20,677,203 (GRCm39) D135E probably benign Het
Arf1 A C 11: 59,104,041 (GRCm39) F63V probably damaging Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
B3gnt7 T A 1: 86,233,366 (GRCm39) F87Y probably damaging Het
Bcat1 A G 6: 144,953,353 (GRCm39) Y345H possibly damaging Het
Birc2 G T 9: 7,857,360 (GRCm39) T371K probably benign Het
Ccdc175 A T 12: 72,231,745 (GRCm39) S5T probably damaging Het
Ccdc186 A T 19: 56,801,689 (GRCm39) S143T possibly damaging Het
Cct6b A T 11: 82,653,015 (GRCm39) M28K possibly damaging Het
Cers4 C A 8: 4,565,680 (GRCm39) A42D probably damaging Het
Crmp1 G T 5: 37,437,018 (GRCm39) V236L probably benign Het
Ctdspl2 T A 2: 121,811,793 (GRCm39) N212K probably benign Het
Dclk3 T C 9: 111,298,127 (GRCm39) V557A possibly damaging Het
Dnmt1 A T 9: 20,864,015 (GRCm39) H23Q probably benign Het
Dpp8 G T 9: 64,971,206 (GRCm39) E609* probably null Het
Dtx3 C A 10: 127,028,919 (GRCm39) M106I probably benign Het
Ero1b A C 13: 12,589,732 (GRCm39) D45A probably damaging Het
Fcho2 T A 13: 98,867,399 (GRCm39) D688V probably damaging Het
Fhod3 A T 18: 25,161,138 (GRCm39) S557C probably damaging Het
Flnc T C 6: 29,444,063 (GRCm39) S626P possibly damaging Het
Foxi3 G T 6: 70,937,602 (GRCm39) G278V probably damaging Het
Gbp10 A G 5: 105,372,166 (GRCm39) L198P probably damaging Het
Gcn1 A G 5: 115,721,462 (GRCm39) T458A probably benign Het
Gigyf1 C T 5: 137,521,422 (GRCm39) probably benign Het
Gtpbp2 A C 17: 46,478,760 (GRCm39) T526P probably damaging Het
Gys2 A G 6: 142,400,239 (GRCm39) L324S probably damaging Het
Hpn C A 7: 30,802,781 (GRCm39) V119L probably benign Het
Ino80d C A 1: 63,098,098 (GRCm39) V599L probably benign Het
Kcnh3 G T 15: 99,140,275 (GRCm39) G1054* probably null Het
Maml1 A T 11: 50,157,778 (GRCm39) D132E probably benign Het
Mastl A T 2: 23,023,503 (GRCm39) S407T probably benign Het
Mettl1 T C 10: 126,878,954 (GRCm39) W3R probably damaging Het
Mprip A G 11: 59,651,399 (GRCm39) Y1701C probably damaging Het
Mylk3 T C 8: 86,069,350 (GRCm39) N484D probably damaging Het
Nod2 G A 8: 89,399,413 (GRCm39) probably null Het
Nrde2 A T 12: 100,097,037 (GRCm39) F921Y probably damaging Het
Nup88 G T 11: 70,835,734 (GRCm39) T575N probably damaging Het
Nxpe3 T C 16: 55,686,706 (GRCm39) T101A possibly damaging Het
Or1o3 T A 17: 37,574,532 (GRCm39) T8S probably benign Het
Or2r11 A G 6: 42,437,908 (GRCm39) M15T probably benign Het
Or4c109 C T 2: 88,817,809 (GRCm39) V246I possibly damaging Het
Or52e15 A G 7: 104,645,514 (GRCm39) L199S possibly damaging Het
Or8g32 A T 9: 39,305,371 (GRCm39) I92F probably damaging Het
Pcnx3 A T 19: 5,722,624 (GRCm39) L1356Q probably damaging Het
Pkd1 A T 17: 24,813,510 (GRCm39) M4017L probably benign Het
Polg2 A G 11: 106,670,064 (GRCm39) C69R possibly damaging Het
Prr5l T G 2: 101,547,452 (GRCm39) S358R probably benign Het
Ptprg A G 14: 12,154,111 (GRCm38) T611A probably benign Het
Ryk G T 9: 102,774,516 (GRCm39) E417* probably null Het
Sbp T C 17: 24,161,396 (GRCm39) probably benign Het
Sema4a T C 3: 88,358,804 (GRCm39) T155A probably benign Het
Shank3 A G 15: 89,415,914 (GRCm39) probably null Het
Slc35d2 A T 13: 64,245,496 (GRCm39) M294K possibly damaging Het
Slc41a3 A T 6: 90,589,153 (GRCm39) N88I possibly damaging Het
Slit3 A G 11: 35,512,975 (GRCm39) T534A probably benign Het
Ssx2ip A G 3: 146,142,296 (GRCm39) probably null Het
Stard13 T C 5: 150,983,063 (GRCm39) K648R probably damaging Het
Tbcc T C 17: 47,202,082 (GRCm39) V156A probably benign Het
Terf1 T G 1: 15,901,787 (GRCm39) I273R possibly damaging Het
Tesc A G 5: 118,197,523 (GRCm39) Y179C probably damaging Het
Ttc3 T G 16: 94,184,900 (GRCm39) V40G probably damaging Het
Tysnd1 T A 10: 61,532,028 (GRCm39) F227I probably damaging Het
Vps53 T C 11: 75,972,034 (GRCm39) E271G probably damaging Het
Wdfy4 C T 14: 32,812,823 (GRCm39) R1650H probably damaging Het
Other mutations in Tanc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Tanc1 APN 2 59,621,185 (GRCm39) missense possibly damaging 0.84
IGL00484:Tanc1 APN 2 59,623,520 (GRCm39) missense probably benign 0.00
IGL00688:Tanc1 APN 2 59,645,735 (GRCm39) missense probably damaging 1.00
IGL00765:Tanc1 APN 2 59,636,645 (GRCm39) missense probably benign 0.15
IGL01576:Tanc1 APN 2 59,628,079 (GRCm39) missense probably damaging 1.00
IGL01590:Tanc1 APN 2 59,615,817 (GRCm39) missense probably benign
IGL02016:Tanc1 APN 2 59,673,934 (GRCm39) missense probably benign 0.00
IGL02373:Tanc1 APN 2 59,626,372 (GRCm39) critical splice donor site probably null
IGL02539:Tanc1 APN 2 59,663,602 (GRCm39) missense probably damaging 1.00
IGL02540:Tanc1 APN 2 59,663,602 (GRCm39) missense probably damaging 1.00
IGL02541:Tanc1 APN 2 59,663,602 (GRCm39) missense probably damaging 1.00
IGL02543:Tanc1 APN 2 59,663,602 (GRCm39) missense probably damaging 1.00
IGL02559:Tanc1 APN 2 59,554,998 (GRCm39) splice site probably benign
IGL02626:Tanc1 APN 2 59,630,216 (GRCm39) missense probably damaging 1.00
IGL02669:Tanc1 APN 2 59,630,330 (GRCm39) missense probably damaging 1.00
IGL02902:Tanc1 APN 2 59,623,431 (GRCm39) splice site probably benign
Oreja UTSW 2 59,622,148 (GRCm39) synonymous silent
R0178:Tanc1 UTSW 2 59,665,791 (GRCm39) nonsense probably null
R0347:Tanc1 UTSW 2 59,673,335 (GRCm39) missense probably benign
R0570:Tanc1 UTSW 2 59,626,382 (GRCm39) splice site probably benign
R0660:Tanc1 UTSW 2 59,674,228 (GRCm39) nonsense probably null
R0664:Tanc1 UTSW 2 59,674,228 (GRCm39) nonsense probably null
R0898:Tanc1 UTSW 2 59,621,132 (GRCm39) missense probably damaging 1.00
R1333:Tanc1 UTSW 2 59,673,835 (GRCm39) missense probably benign
R1575:Tanc1 UTSW 2 59,621,995 (GRCm39) missense probably damaging 1.00
R1608:Tanc1 UTSW 2 59,628,038 (GRCm39) missense possibly damaging 0.80
R1616:Tanc1 UTSW 2 59,615,731 (GRCm39) missense probably damaging 1.00
R1703:Tanc1 UTSW 2 59,673,365 (GRCm39) missense probably benign 0.02
R1727:Tanc1 UTSW 2 59,621,153 (GRCm39) missense probably damaging 1.00
R1809:Tanc1 UTSW 2 59,630,441 (GRCm39) missense probably damaging 1.00
R1812:Tanc1 UTSW 2 59,622,023 (GRCm39) missense probably damaging 1.00
R1925:Tanc1 UTSW 2 59,555,095 (GRCm39) missense possibly damaging 0.48
R1951:Tanc1 UTSW 2 59,622,156 (GRCm39) missense possibly damaging 0.92
R2174:Tanc1 UTSW 2 59,674,177 (GRCm39) missense possibly damaging 0.72
R2228:Tanc1 UTSW 2 59,555,068 (GRCm39) missense probably benign 0.04
R2267:Tanc1 UTSW 2 59,667,563 (GRCm39) critical splice donor site probably null
R4191:Tanc1 UTSW 2 59,669,357 (GRCm39) missense probably damaging 1.00
R4476:Tanc1 UTSW 2 59,672,340 (GRCm39) splice site probably null
R4632:Tanc1 UTSW 2 59,626,179 (GRCm39) missense probably damaging 1.00
R4825:Tanc1 UTSW 2 59,529,766 (GRCm39) missense probably damaging 1.00
R4982:Tanc1 UTSW 2 59,630,287 (GRCm39) missense probably damaging 1.00
R5657:Tanc1 UTSW 2 59,665,051 (GRCm39) splice site probably null
R5672:Tanc1 UTSW 2 59,602,697 (GRCm39) missense possibly damaging 0.81
R5703:Tanc1 UTSW 2 59,626,341 (GRCm39) missense probably damaging 0.98
R5707:Tanc1 UTSW 2 59,588,874 (GRCm39) missense probably benign
R5778:Tanc1 UTSW 2 59,529,691 (GRCm39) critical splice acceptor site probably null
R5795:Tanc1 UTSW 2 59,637,926 (GRCm39) missense possibly damaging 0.62
R5831:Tanc1 UTSW 2 59,615,685 (GRCm39) missense possibly damaging 0.89
R5849:Tanc1 UTSW 2 59,630,248 (GRCm39) missense probably benign 0.00
R5912:Tanc1 UTSW 2 59,622,030 (GRCm39) missense possibly damaging 0.92
R5944:Tanc1 UTSW 2 59,667,564 (GRCm39) critical splice donor site probably null
R6057:Tanc1 UTSW 2 59,647,837 (GRCm39) missense possibly damaging 0.46
R6142:Tanc1 UTSW 2 59,663,566 (GRCm39) nonsense probably null
R6179:Tanc1 UTSW 2 59,673,320 (GRCm39) missense probably benign 0.42
R6185:Tanc1 UTSW 2 59,621,929 (GRCm39) splice site probably null
R6192:Tanc1 UTSW 2 59,669,305 (GRCm39) splice site probably null
R6196:Tanc1 UTSW 2 59,674,366 (GRCm39) missense possibly damaging 0.94
R6197:Tanc1 UTSW 2 59,674,366 (GRCm39) missense possibly damaging 0.94
R6230:Tanc1 UTSW 2 59,672,375 (GRCm39) missense probably damaging 1.00
R6275:Tanc1 UTSW 2 59,673,854 (GRCm39) missense probably benign 0.22
R6415:Tanc1 UTSW 2 59,667,458 (GRCm39) missense probably benign 0.02
R6480:Tanc1 UTSW 2 59,637,986 (GRCm39) missense probably damaging 1.00
R6578:Tanc1 UTSW 2 59,626,298 (GRCm39) missense probably damaging 1.00
R6786:Tanc1 UTSW 2 59,622,150 (GRCm39) missense probably benign 0.00
R7006:Tanc1 UTSW 2 59,626,188 (GRCm39) missense probably damaging 1.00
R7133:Tanc1 UTSW 2 59,627,953 (GRCm39) missense probably benign 0.16
R7381:Tanc1 UTSW 2 59,615,670 (GRCm39) missense probably damaging 1.00
R7422:Tanc1 UTSW 2 59,636,688 (GRCm39) missense probably benign 0.02
R8392:Tanc1 UTSW 2 59,636,651 (GRCm39) missense probably damaging 0.99
R8692:Tanc1 UTSW 2 59,673,989 (GRCm39) missense probably benign 0.01
R8730:Tanc1 UTSW 2 59,601,590 (GRCm39) missense probably benign 0.00
R8731:Tanc1 UTSW 2 59,673,596 (GRCm39) missense probably benign 0.01
R8813:Tanc1 UTSW 2 59,630,265 (GRCm39) missense probably damaging 1.00
R8815:Tanc1 UTSW 2 59,621,185 (GRCm39) missense possibly damaging 0.84
R8933:Tanc1 UTSW 2 59,615,800 (GRCm39) missense possibly damaging 0.92
R9015:Tanc1 UTSW 2 59,622,224 (GRCm39) missense probably benign
R9042:Tanc1 UTSW 2 59,673,766 (GRCm39) missense probably benign 0.00
R9154:Tanc1 UTSW 2 59,630,132 (GRCm39) missense probably damaging 1.00
R9269:Tanc1 UTSW 2 59,630,432 (GRCm39) missense probably damaging 1.00
R9283:Tanc1 UTSW 2 59,630,174 (GRCm39) missense probably damaging 0.99
R9380:Tanc1 UTSW 2 59,665,796 (GRCm39) missense probably damaging 1.00
R9422:Tanc1 UTSW 2 59,637,933 (GRCm39) missense probably benign 0.08
R9428:Tanc1 UTSW 2 59,601,548 (GRCm39) missense probably damaging 1.00
R9694:Tanc1 UTSW 2 59,626,196 (GRCm39) missense probably damaging 1.00
RF028:Tanc1 UTSW 2 59,673,613 (GRCm39) small deletion probably benign
RF049:Tanc1 UTSW 2 59,673,613 (GRCm39) small deletion probably benign
X0063:Tanc1 UTSW 2 59,674,324 (GRCm39) nonsense probably null
X0064:Tanc1 UTSW 2 59,674,456 (GRCm39) missense probably damaging 1.00
Z1176:Tanc1 UTSW 2 59,602,873 (GRCm39) missense possibly damaging 0.93
Z1177:Tanc1 UTSW 2 59,622,174 (GRCm39) missense probably damaging 1.00
Z1177:Tanc1 UTSW 2 59,621,231 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTAACACAGTTCTAGGGACCAG -3'
(R):5'- CATCGGCCTTTACTGGGAAG -3'

Sequencing Primer
(F):5'- GTTCTAGGGACCAGACACACTCTG -3'
(R):5'- CTTGTAAGTGGCTCCAGGAC -3'
Posted On 2016-08-04