Incidental Mutation 'IGL02630:Tc2n'
ID 301264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tc2n
Ensembl Gene ENSMUSG00000021187
Gene Name tandem C2 domains, nuclear
Synonyms 4933406D09Rik, Mtac2d1, Tac2-N
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02630
Quality Score
Status
Chromosome 12
Chromosomal Location 101611702-101684782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101659404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 176 (D176E)
Ref Sequence ENSEMBL: ENSMUSP00000125099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110047] [ENSMUST00000160715] [ENSMUST00000160830] [ENSMUST00000162735]
AlphaFold Q91XT6
Predicted Effect possibly damaging
Transcript: ENSMUST00000110047
AA Change: D176E

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105674
Gene: ENSMUSG00000021187
AA Change: D176E

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
low complexity region 190 210 N/A INTRINSIC
C2 238 339 5.56e0 SMART
C2 366 472 1.02e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160715
AA Change: D176E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125099
Gene: ENSMUSG00000021187
AA Change: D176E

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
low complexity region 190 210 N/A INTRINSIC
Blast:C2 238 287 1e-24 BLAST
C2 302 408 1.02e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000160830
AA Change: D176E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124287
Gene: ENSMUSG00000021187
AA Change: D176E

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
low complexity region 190 210 N/A INTRINSIC
C2 238 339 5.56e0 SMART
C2 366 472 1.02e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000162735
AA Change: D176E

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125288
Gene: ENSMUSG00000021187
AA Change: D176E

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
low complexity region 190 210 N/A INTRINSIC
C2 238 339 5.56e0 SMART
C2 366 472 1.02e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N probably damaging Het
Other mutations in Tc2n
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Tc2n APN 12 101,615,348 (GRCm39) utr 3 prime probably benign
IGL02129:Tc2n APN 12 101,656,048 (GRCm39) missense probably damaging 0.99
upbraided UTSW 12 101,617,460 (GRCm39) splice site probably null
R0517:Tc2n UTSW 12 101,615,454 (GRCm39) missense probably damaging 0.98
R0980:Tc2n UTSW 12 101,644,835 (GRCm39) nonsense probably null
R1676:Tc2n UTSW 12 101,655,251 (GRCm39) missense probably damaging 1.00
R2187:Tc2n UTSW 12 101,672,803 (GRCm39) missense probably damaging 1.00
R3771:Tc2n UTSW 12 101,660,833 (GRCm39) missense possibly damaging 0.68
R4082:Tc2n UTSW 12 101,617,414 (GRCm39) missense possibly damaging 0.85
R4180:Tc2n UTSW 12 101,631,954 (GRCm39) missense probably damaging 1.00
R4707:Tc2n UTSW 12 101,660,832 (GRCm39) missense probably benign 0.16
R4793:Tc2n UTSW 12 101,617,376 (GRCm39) missense possibly damaging 0.86
R4917:Tc2n UTSW 12 101,631,954 (GRCm39) missense probably damaging 1.00
R5214:Tc2n UTSW 12 101,659,461 (GRCm39) nonsense probably null
R5870:Tc2n UTSW 12 101,619,111 (GRCm39) missense probably damaging 1.00
R6034:Tc2n UTSW 12 101,617,460 (GRCm39) splice site probably null
R6034:Tc2n UTSW 12 101,617,460 (GRCm39) splice site probably null
R6128:Tc2n UTSW 12 101,675,748 (GRCm39) start codon destroyed probably null 0.99
R7200:Tc2n UTSW 12 101,655,314 (GRCm39) missense probably damaging 1.00
R7469:Tc2n UTSW 12 101,631,934 (GRCm39) missense probably damaging 1.00
R7471:Tc2n UTSW 12 101,672,716 (GRCm39) missense probably damaging 0.99
R7730:Tc2n UTSW 12 101,617,406 (GRCm39) missense probably damaging 0.99
R7836:Tc2n UTSW 12 101,619,112 (GRCm39) missense possibly damaging 0.51
R8432:Tc2n UTSW 12 101,615,363 (GRCm39) missense probably benign 0.00
R8435:Tc2n UTSW 12 101,615,376 (GRCm39) nonsense probably null
R8530:Tc2n UTSW 12 101,617,444 (GRCm39) missense possibly damaging 0.52
R8669:Tc2n UTSW 12 101,660,851 (GRCm39) missense probably damaging 1.00
R9684:Tc2n UTSW 12 101,660,818 (GRCm39) missense probably benign 0.07
Posted On 2015-04-16