Incidental Mutation 'IGL03148:Tcp11'
ID410969
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcp11
Ensembl Gene ENSMUSG00000062859
Gene Namet-complex protein 11
SynonymsD17Ken1, Tcp-11
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03148
Quality Score
Status
Chromosome17
Chromosomal Location28066747-28080639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28070470 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 209 (V209A)
Ref Sequence ENSEMBL: ENSMUSP00000116959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042692] [ENSMUST00000043925] [ENSMUST00000114836] [ENSMUST00000129046] [ENSMUST00000141806]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042692
AA Change: V288A

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038590
Gene: ENSMUSG00000062859
AA Change: V288A

DomainStartEndE-ValueType
Pfam:Tcp11 126 550 6.2e-102 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000043925
AA Change: V209A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046002
Gene: ENSMUSG00000062859
AA Change: V209A

DomainStartEndE-ValueType
Pfam:Tcp11 44 474 3.3e-129 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114836
AA Change: V209A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110485
Gene: ENSMUSG00000062859
AA Change: V209A

DomainStartEndE-ValueType
Pfam:Tcp11 44 474 3.3e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123628
Predicted Effect possibly damaging
Transcript: ENSMUST00000129046
AA Change: V209A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116959
Gene: ENSMUSG00000062859
AA Change: V209A

DomainStartEndE-ValueType
Pfam:Tcp11 44 237 2.5e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134228
Predicted Effect probably benign
Transcript: ENSMUST00000141806
SMART Domains Protein: ENSMUSP00000122010
Gene: ENSMUSG00000062859

DomainStartEndE-ValueType
Pfam:Tcp11 123 183 7.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142461
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A G 11: 99,837,253 S255P unknown Het
Adamtsl2 T A 2: 27,084,059 Y125N probably damaging Het
Ankrd9 T C 12: 110,976,859 E214G probably benign Het
Bhmt2 T A 13: 93,666,653 D124V possibly damaging Het
Ccdc150 A G 1: 54,278,715 H271R possibly damaging Het
Clcn1 T G 6: 42,299,991 probably null Het
Col6a3 T A 1: 90,827,866 I234F probably benign Het
Cpa5 T A 6: 30,630,437 M330K probably damaging Het
Csmd2 G A 4: 128,384,269 C995Y probably damaging Het
D630003M21Rik T C 2: 158,217,224 E252G probably damaging Het
Dhrs1 A T 14: 55,741,291 Y133* probably null Het
Dock10 T C 1: 80,540,358 I1300V probably benign Het
Efcab12 T C 6: 115,810,991 Y670C probably damaging Het
Frg1 T G 8: 41,411,284 K66N probably benign Het
Gbp2b C A 3: 142,606,881 H342N probably benign Het
Gm3259 A G 5: 95,341,318 T207A possibly damaging Het
Gria4 T A 9: 4,464,295 I556F possibly damaging Het
Kcnh1 T G 1: 192,276,999 I287S probably damaging Het
Map1b A G 13: 99,441,695 L150P probably damaging Het
Map3k4 C T 17: 12,238,158 R1299Q probably benign Het
Mapk10 T C 5: 102,926,105 N407D probably damaging Het
Mcemp1 T A 8: 3,667,390 probably null Het
Nav1 A C 1: 135,470,024 N802K possibly damaging Het
Pcdhb2 T A 18: 37,296,778 N601K probably damaging Het
Pi4ka T A 16: 17,354,189 H564L probably damaging Het
Pnp T A 14: 50,950,728 probably benign Het
Ppp2r2a G T 14: 67,022,295 N317K probably benign Het
Rars2 A T 4: 34,650,243 I343F possibly damaging Het
Rnf213 T C 11: 119,465,007 F4092S probably damaging Het
Tet2 T C 3: 133,481,363 S1102G probably benign Het
Wdr92 G A 11: 17,229,845 G282E probably damaging Het
Other mutations in Tcp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02993:Tcp11 APN 17 28070516 missense probably damaging 1.00
R0487:Tcp11 UTSW 17 28079923 splice site probably null
R0603:Tcp11 UTSW 17 28067810 missense probably damaging 1.00
R0745:Tcp11 UTSW 17 28067160 missense possibly damaging 0.80
R1170:Tcp11 UTSW 17 28071662 missense probably damaging 1.00
R2965:Tcp11 UTSW 17 28069265 missense probably benign 0.38
R5249:Tcp11 UTSW 17 28071783 missense possibly damaging 0.71
R5358:Tcp11 UTSW 17 28078020 missense probably benign 0.05
R5819:Tcp11 UTSW 17 28069236 missense probably damaging 1.00
R6190:Tcp11 UTSW 17 28071717 missense probably benign 0.00
R6657:Tcp11 UTSW 17 28071672 missense probably damaging 1.00
R6698:Tcp11 UTSW 17 28071830 missense possibly damaging 0.63
R7020:Tcp11 UTSW 17 28071705 missense possibly damaging 0.79
R7084:Tcp11 UTSW 17 28067021 missense probably benign 0.43
Posted On2016-08-02