Incidental Mutation 'R1925:Tanc1'
ID 213322
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 039943-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1925 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 59442386-59676493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59555095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 51 (V51E)
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: V51E

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036003
Gene: ENSMUSG00000035168
AA Change: V51E

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: V51E

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108187
Gene: ENSMUSG00000035168
AA Change: V51E

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 noncoding transcript
Transcript: ENSMUST00000127013
Predicted Effect possibly damaging
Transcript: ENSMUST00000139863
AA Change: V51E

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123345
Gene: ENSMUSG00000035168
AA Change: V51E

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
Meta Mutation Damage Score 0.0618 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency 99% (79/80)
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
Abcc9 T C 6: 142,617,333 (GRCm39) H577R probably damaging Het
Acvr1 T C 2: 58,337,661 (GRCm39) M474V probably damaging Het
Adam1a A T 5: 121,657,513 (GRCm39) C593* probably null Het
Agap2 A G 10: 126,926,744 (GRCm39) N927S probably damaging Het
Ahctf1 T C 1: 179,598,218 (GRCm39) H958R probably damaging Het
Apaf1 A G 10: 90,835,581 (GRCm39) V1088A probably damaging Het
Brpf1 G T 6: 113,296,891 (GRCm39) K958N probably damaging Het
Cadps A G 14: 12,705,726 (GRCm38) I223T probably damaging Het
Catsperg2 T C 7: 29,397,189 (GRCm39) M1105V probably benign Het
Clasp2 T A 9: 113,735,265 (GRCm39) F1033L possibly damaging Het
Col4a3 T A 1: 82,678,094 (GRCm39) I1232N unknown Het
Col4a3 T G 1: 82,689,595 (GRCm39) probably benign Het
Comtd1 T G 14: 21,897,731 (GRCm39) E134A probably damaging Het
Cyp2c55 A T 19: 39,022,821 (GRCm39) T320S probably benign Het
Dlx2 T C 2: 71,376,522 (GRCm39) N72S probably benign Het
Dnhd1 T A 7: 105,301,459 (GRCm39) V272E probably damaging Het
Dnhd1 T A 7: 105,323,061 (GRCm39) I523N probably damaging Het
Dpysl3 T A 18: 43,465,996 (GRCm39) I140F probably damaging Het
Elmod2 G A 8: 84,048,093 (GRCm39) A123V probably benign Het
Etv4 T C 11: 101,662,507 (GRCm39) probably benign Het
F3 A T 3: 121,523,032 (GRCm39) T81S probably damaging Het
Faf2 C T 13: 54,799,865 (GRCm39) A224V probably damaging Het
Fbn1 A T 2: 125,205,549 (GRCm39) M1109K probably damaging Het
Fnbp4 A G 2: 90,596,187 (GRCm39) E586G probably damaging Het
Gm10428 G T 11: 62,644,179 (GRCm39) probably benign Het
Gm5884 A T 6: 128,622,050 (GRCm39) noncoding transcript Het
Gm6471 T A 7: 142,385,319 (GRCm39) noncoding transcript Het
Gtse1 T C 15: 85,757,939 (GRCm39) V515A probably benign Het
H2-M2 T C 17: 37,793,391 (GRCm39) E205G probably damaging Het
Ido1 T A 8: 25,075,306 (GRCm39) T259S possibly damaging Het
Il1r2 A G 1: 40,154,308 (GRCm39) Y225C probably damaging Het
Kcnq3 T G 15: 65,876,658 (GRCm39) D495A possibly damaging Het
Lrrc49 T C 9: 60,556,773 (GRCm39) N321D probably benign Het
Lztr1 G T 16: 17,341,247 (GRCm39) R291L probably damaging Het
Micu1 C T 10: 59,568,983 (GRCm39) probably benign Het
Msh5 C T 17: 35,248,928 (GRCm39) V702I probably benign Het
Myh1 T C 11: 67,101,996 (GRCm39) I792T probably benign Het
Nav1 T A 1: 135,534,967 (GRCm39) probably benign Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or11i1 C T 3: 106,729,688 (GRCm39) M62I probably damaging Het
Or5ac22 A G 16: 59,135,027 (GRCm39) S248P probably damaging Het
Or8u9 T C 2: 86,001,354 (GRCm39) D269G probably benign Het
Otof G C 5: 30,551,532 (GRCm39) N340K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Plek2 T A 12: 78,941,664 (GRCm39) Y155F probably damaging Het
Ppa1 T A 10: 61,487,388 (GRCm39) Y38* probably null Het
Pramel22 T A 4: 143,381,025 (GRCm39) T333S probably damaging Het
Prmt9 T A 8: 78,303,968 (GRCm39) C684S possibly damaging Het
Rasl10a A G 11: 5,009,473 (GRCm39) D87G possibly damaging Het
Rtn4rl1 C A 11: 75,156,864 (GRCm39) P432Q probably benign Het
Scd4 T G 19: 44,329,823 (GRCm39) Y265D probably damaging Het
Scn5a C T 9: 119,358,085 (GRCm39) A719T probably benign Het
Sdk1 T A 5: 142,171,040 (GRCm39) F1968I probably benign Het
Sh3bp5 T C 14: 31,157,880 (GRCm39) E12G probably benign Het
Slc6a12 T A 6: 121,337,485 (GRCm39) F390I probably benign Het
Snapin A T 3: 90,397,539 (GRCm39) D77E possibly damaging Het
Sox2 G T 3: 34,704,820 (GRCm39) E86* probably null Het
Sparcl1 A G 5: 104,241,220 (GRCm39) L68P probably benign Het
Sptb T A 12: 76,669,027 (GRCm39) E562V probably damaging Het
Taar3 A T 10: 23,826,483 (GRCm39) H343L probably benign Het
Tbc1d22a T C 15: 86,123,350 (GRCm39) S128P probably damaging Het
Thada A G 17: 84,751,927 (GRCm39) S350P probably benign Het
Tmem161b T C 13: 84,408,348 (GRCm39) V93A probably benign Het
Tnn T C 1: 159,924,799 (GRCm39) Y1185C probably damaging Het
Trim43a T C 9: 88,464,371 (GRCm39) V94A probably benign Het
Ttll12 C T 15: 83,465,976 (GRCm39) E407K probably benign Het
Ttn T C 2: 76,555,856 (GRCm39) E30383G probably damaging Het
Vmn1r29 T A 6: 58,285,087 (GRCm39) M269K possibly damaging Het
Vmn2r117 A G 17: 23,697,363 (GRCm39) S110P probably benign Het
Vmn2r6 C A 3: 64,463,698 (GRCm39) V290L possibly damaging Het
Vmn2r8 A T 5: 108,950,019 (GRCm39) L276Q probably damaging Het
Zan C A 5: 137,423,904 (GRCm39) C2665F unknown Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp983 A G 17: 21,880,933 (GRCm39) H287R 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
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
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'- AAAGCTTGAGTTCCCCTGC -3'
(R):5'- CTCCCAGAAGATTTCTTACATGTACTC -3'

Sequencing Primer
(F):5'- TTGAGTTCCCCTGCAGGCAG -3'
(R):5'- CTTATGTTGATACTGGGATGC -3'
Posted On 2014-07-14