Incidental Mutation 'R8815:Tanc1'
ID 672644
Institutional Source Beutler Lab
Gene Symbol Tanc1
Ensembl Gene ENSMUSG00000035168
Gene Name tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1
Synonyms 1200003E16Rik
MMRRC Submission 068650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8815 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 59442386-59676493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59621185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 335 (T335A)
Ref Sequence ENSEMBL: ENSMUSP00000123345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037526] [ENSMUST00000112568] [ENSMUST00000139863]
AlphaFold Q0VGY8
Predicted Effect possibly damaging
Transcript: ENSMUST00000037526
AA Change: T335A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036003
Gene: ENSMUSG00000035168
AA Change: T335A

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 possibly damaging
Transcript: ENSMUST00000112568
AA Change: T335A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108187
Gene: ENSMUSG00000035168
AA Change: T335A

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 possibly damaging
Transcript: ENSMUST00000139863
AA Change: T335A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123345
Gene: ENSMUSG00000035168
AA Change: T335A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (70/71)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,421,943 (GRCm39) Q106H probably damaging Het
Acad9 T C 3: 36,139,590 (GRCm39) C397R probably damaging Het
Ankfn1 T G 11: 89,282,602 (GRCm39) R348S probably damaging Het
Ankrd61 A G 5: 143,831,336 (GRCm39) C28R probably benign Het
Ano5 C T 7: 51,194,548 (GRCm39) R94* probably null Het
Apela A T 8: 65,489,590 (GRCm39) F10I unknown Het
Arhgap31 T C 16: 38,429,790 (GRCm39) S362G probably benign Het
Arhgef18 C A 8: 3,430,410 (GRCm39) H94Q probably benign Het
Astn2 A T 4: 65,830,834 (GRCm39) L585Q possibly damaging Het
Atf3 G T 1: 190,909,564 (GRCm39) A35D probably benign Het
Atp10b A T 11: 43,093,978 (GRCm39) R507S possibly damaging Het
Brip1 A C 11: 86,080,598 (GRCm39) V156G probably benign Het
Ccdc27 T A 4: 154,111,205 (GRCm39) M636L probably benign Het
Ceacam5 T A 7: 17,493,285 (GRCm39) N769K possibly damaging Het
Cklf C T 8: 104,977,560 (GRCm39) probably benign Het
Cpeb4 G A 11: 31,870,546 (GRCm39) V474M probably damaging Het
Dip2c T A 13: 9,673,834 (GRCm39) C1091* probably null Het
Eef1akmt4 T A 16: 20,437,288 (GRCm39) I210N possibly damaging Het
Fbxo38 A T 18: 62,666,587 (GRCm39) H195Q probably damaging Het
Fbxw14 G A 9: 109,105,305 (GRCm39) R287* probably null Het
Fes A G 7: 80,033,619 (GRCm39) S211P possibly damaging Het
Fry G T 5: 150,317,603 (GRCm39) R861L possibly damaging Het
Galnt12 A G 4: 47,113,908 (GRCm39) probably benign Het
Gm14226 G A 2: 154,866,538 (GRCm39) W165* probably null Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gprc6a A G 10: 51,497,079 (GRCm39) V488A probably benign Het
Haus8 A T 8: 71,705,910 (GRCm39) probably benign Het
Helb A T 10: 119,948,692 (GRCm39) C26S possibly damaging Het
Icam1 A T 9: 20,937,862 (GRCm39) I300F probably benign Het
Ip6k1 A G 9: 107,918,211 (GRCm39) N181S probably benign Het
Itga2b C A 11: 102,351,687 (GRCm39) R546L possibly damaging Het
Kif27 A T 13: 58,476,818 (GRCm39) Y611N probably damaging Het
Lpcat2 A G 8: 93,640,979 (GRCm39) I475V possibly damaging Het
Lrit2 A G 14: 36,794,487 (GRCm39) K517R probably benign Het
Lrp1b A T 2: 40,555,171 (GRCm39) I4085N Het
Lrrc32 T A 7: 98,148,242 (GRCm39) S341T probably damaging Het
Lrrn2 T A 1: 132,866,831 (GRCm39) I632K possibly damaging Het
Mettl22 A G 16: 8,300,178 (GRCm39) Q194R probably benign Het
Mfhas1 T A 8: 36,057,394 (GRCm39) V623E probably damaging Het
Mitd1 T C 1: 37,929,315 (GRCm39) D26G probably damaging Het
Myo1a C T 10: 127,546,043 (GRCm39) T222M probably benign Het
Naf1 A G 8: 67,317,333 (GRCm39) K275R possibly damaging Het
Nf1 T C 11: 79,332,491 (GRCm39) L765P probably damaging Het
Or12k7 G T 2: 36,958,429 (GRCm39) M37I probably benign Het
Or52a5 A G 7: 103,427,063 (GRCm39) L163P possibly damaging Het
Or5ac16 T A 16: 59,022,264 (GRCm39) H175L possibly damaging Het
Or9r3 T A 10: 129,947,808 (GRCm39) I284F probably damaging Het
Pappa A G 4: 65,099,347 (GRCm39) H622R probably benign Het
Pcdhb4 A T 18: 37,442,055 (GRCm39) Y455F probably damaging Het
Pepd A G 7: 34,671,116 (GRCm39) Y220C probably damaging Het
Pias3 T C 3: 96,607,381 (GRCm39) I172T probably damaging Het
Polq T A 16: 36,853,893 (GRCm39) H415Q probably damaging Het
Pp2d1 A T 17: 53,814,897 (GRCm39) M609K probably benign Het
Ppm1m G A 9: 106,076,237 (GRCm39) probably benign Het
Prss22 T A 17: 24,215,662 (GRCm39) T87S probably benign Het
Ptprf C A 4: 118,095,125 (GRCm39) V254L possibly damaging Het
Ripply3 A G 16: 94,136,723 (GRCm39) E128G possibly damaging Het
Rrm2 A C 12: 24,760,470 (GRCm39) I185L possibly damaging Het
Sbsn T A 7: 30,454,227 (GRCm39) probably benign Het
Sdc3 T A 4: 130,546,336 (GRCm39) S232T probably benign Het
Slx4 G C 16: 3,803,458 (GRCm39) P1119A probably benign Het
Smc5 C T 19: 23,221,422 (GRCm39) R369Q probably damaging Het
Speer4a3 A G 5: 26,158,191 (GRCm39) S54P probably damaging Het
Spns1 G A 7: 125,971,593 (GRCm39) S319F possibly damaging Het
Sptbn4 G A 7: 27,106,657 (GRCm39) Q924* probably null Het
Srcap G C 7: 127,158,037 (GRCm39) D2638H unknown Het
Srsf12 T C 4: 33,226,045 (GRCm39) S103P possibly damaging Het
Them4 C T 3: 94,231,610 (GRCm39) T149I probably damaging Het
Trpc7 T C 13: 56,970,312 (GRCm39) Y424C possibly damaging Het
Ttn C T 2: 76,628,364 (GRCm39) D14599N probably damaging Het
Ttn A T 2: 76,698,244 (GRCm39) L186H Het
Usp17lc T C 7: 103,067,524 (GRCm39) F273S probably benign Het
Vwa5b2 T C 16: 20,419,516 (GRCm39) S620P 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
R5338:Tanc1 UTSW 2 59,626,178 (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
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'- TCAAGTTAACAGTCCCGCCG -3'
(R):5'- TTTTAGAGAACAGCACAGACACACG -3'

Sequencing Primer
(F):5'- GCTGGCGAAAATAATTATCCCG -3'
(R):5'- ACGTCACATCATGCTTGCGG -3'
Posted On 2021-04-30