Incidental Mutation 'R6415:Tanc1'
ID 517844
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 044557-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6415 (G1)
Quality Score 224.009
Status Validated
Chromosome 2
Chromosomal Location 59442386-59676493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59667458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1233 (V1233A)
Ref Sequence ENSEMBL: ENSMUSP00000123345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037526] [ENSMUST00000112568] [ENSMUST00000139863]
AlphaFold Q0VGY8
Predicted Effect probably benign
Transcript: ENSMUST00000037526
AA Change: V1233A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000036003
Gene: ENSMUSG00000035168
AA Change: V1233A

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 probably benign
Transcript: ENSMUST00000112568
AA Change: V1226A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108187
Gene: ENSMUSG00000035168
AA Change: V1226A

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 benign
Transcript: ENSMUST00000139863
AA Change: V1233A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000123345
Gene: ENSMUSG00000035168
AA Change: V1233A

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: ENSMUST00000147650
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,881,296 (GRCm39) T482M probably benign Het
Adam9 A G 8: 25,468,498 (GRCm39) Y513H probably damaging Het
Adamts20 C T 15: 94,222,540 (GRCm39) probably null Het
B3gnt5 A G 16: 19,588,759 (GRCm39) D326G probably damaging Het
Cacna1g A G 11: 94,354,243 (GRCm39) I224T probably damaging Het
Ccdc18 A G 5: 108,309,612 (GRCm39) I402M probably benign Het
Cckar A T 5: 53,860,398 (GRCm39) C73S probably damaging Het
Cdk13 C T 13: 17,913,739 (GRCm39) R880H probably damaging Het
Col1a1 A G 11: 94,830,986 (GRCm39) N218D unknown Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Cul5 T C 9: 53,557,983 (GRCm39) D207G probably benign Het
Cyp2c69 A G 19: 39,831,365 (GRCm39) F483L probably benign Het
Ddx60 A G 8: 62,436,939 (GRCm39) D963G probably benign Het
Dhx8 G T 11: 101,628,513 (GRCm39) A142S unknown Het
Dock7 C T 4: 98,880,685 (GRCm39) R926Q probably damaging Het
Dscaml1 C T 9: 45,594,975 (GRCm39) Q693* probably null Het
Dysf G A 6: 84,117,024 (GRCm39) C1234Y probably damaging Het
Ercc1 G A 7: 19,089,102 (GRCm39) probably null Het
Fam91a1 T C 15: 58,314,766 (GRCm39) L549P probably damaging Het
Fxyd2 T A 9: 45,314,592 (GRCm39) Y5N possibly damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gpr182 T A 10: 127,586,375 (GRCm39) D192V possibly damaging Het
Gps1 T C 11: 120,678,548 (GRCm39) V286A possibly damaging Het
Grk1 A G 8: 13,463,127 (GRCm39) Y383C probably damaging Het
H2bc15 T C 13: 21,938,656 (GRCm39) Y122H probably benign Het
Hic1 G A 11: 75,057,143 (GRCm39) P582L possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Khdc4 T C 3: 88,607,279 (GRCm39) F328L probably benign Het
Lactb T C 9: 66,877,927 (GRCm39) K301E possibly damaging Het
Lrp3 A T 7: 34,903,593 (GRCm39) V251E probably benign Het
Mapt G A 11: 104,189,824 (GRCm39) G265S probably benign Het
Obscn A T 11: 58,925,956 (GRCm39) D6245E probably damaging Het
Or10al2 G T 17: 37,983,448 (GRCm39) C178F possibly damaging Het
Or1j12 A G 2: 36,342,617 (GRCm39) S7G probably damaging Het
Or4b1c T A 2: 90,126,381 (GRCm39) I275F probably damaging Het
Or4c10b T C 2: 89,711,206 (GRCm39) L12P probably damaging Het
Or6c207 T C 10: 129,104,890 (GRCm39) T101A probably benign Het
Or7e165 T A 9: 19,695,044 (GRCm39) I205N probably damaging Het
Or7g19 T C 9: 18,856,415 (GRCm39) L157P probably damaging Het
Oxsm A T 14: 16,241,904 (GRCm38) H288Q probably benign Het
Pcdh9 C T 14: 93,253,278 (GRCm39) M1128I possibly damaging Het
Pcdha8 T C 18: 37,127,614 (GRCm39) Y699H probably damaging Het
Pgk2 A T 17: 40,518,459 (GRCm39) I323N probably benign Het
Plin4 A G 17: 56,410,264 (GRCm39) V1216A probably damaging Het
Ppargc1a T C 5: 51,620,176 (GRCm39) probably benign Het
Prelp A T 1: 133,840,516 (GRCm39) I322N probably benign Het
Prelp A T 1: 133,842,395 (GRCm39) I250N probably damaging Het
Prss27 T A 17: 24,261,882 (GRCm39) C63* probably null Het
Rab38 G A 7: 88,079,748 (GRCm39) A47T possibly damaging Het
Rprd2 G A 3: 95,681,531 (GRCm39) A436V probably benign Het
Sacs A T 14: 61,442,808 (GRCm39) N1618I probably damaging Het
Scp2 T G 4: 107,962,337 (GRCm39) S63R probably benign Het
Sftpb T G 6: 72,281,633 (GRCm39) W9G probably damaging Het
Slco1a4 A T 6: 141,780,415 (GRCm39) L125* probably null Het
Sptlc1 T C 13: 53,505,728 (GRCm39) probably null Het
Sub1 T A 15: 11,986,560 (GRCm39) M96L probably benign Het
Tmem140 A T 6: 34,849,658 (GRCm39) D58V probably damaging Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Tpt1 T C 14: 76,083,811 (GRCm39) Y91H probably benign Het
Trap1 C T 16: 3,861,856 (GRCm39) R636H possibly damaging Het
Ttc14 A G 3: 33,857,724 (GRCm39) H275R possibly damaging Het
Tut7 T A 13: 59,964,110 (GRCm39) probably null Het
Vps35l T C 7: 118,391,869 (GRCm39) W494R probably damaging Het
Ypel1 A G 16: 16,921,438 (GRCm39) probably null Het
Zbtb44 T A 9: 30,975,510 (GRCm39) I380N possibly damaging Het
Zswim5 T C 4: 116,838,063 (GRCm39) F798L possibly 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
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'- AGATGTTCGCCATTGTAGTGC -3'
(R):5'- GCAGGTACTCTTTAGGTCTTTCAGG -3'

Sequencing Primer
(F):5'- GGTGTCACATTGGTTTTATTTCCAC -3'
(R):5'- GTAAGATGTTAGAAGCCAACCCTCTG -3'
Posted On 2018-05-24