Incidental Mutation 'IGL02993:Tcp11'
ID407043
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 #IGL02993
Quality Score
Status
Chromosome17
Chromosomal Location28066747-28080639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28070516 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 194 (N194D)
Ref Sequence ENSEMBL: ENSMUSP00000110485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042692] [ENSMUST00000043925] [ENSMUST00000114836] [ENSMUST00000129046] [ENSMUST00000141806]
Predicted Effect probably damaging
Transcript: ENSMUST00000042692
AA Change: N273D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038590
Gene: ENSMUSG00000062859
AA Change: N273D

DomainStartEndE-ValueType
Pfam:Tcp11 126 550 6.2e-102 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000043925
AA Change: N194D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046002
Gene: ENSMUSG00000062859
AA Change: N194D

DomainStartEndE-ValueType
Pfam:Tcp11 44 474 3.3e-129 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114836
AA Change: N194D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110485
Gene: ENSMUSG00000062859
AA Change: N194D

DomainStartEndE-ValueType
Pfam:Tcp11 44 474 3.3e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123628
Predicted Effect probably damaging
Transcript: ENSMUST00000129046
AA Change: N194D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116959
Gene: ENSMUSG00000062859
AA Change: N194D

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,971,719 Y351H probably damaging Het
5830411N06Rik A G 7: 140,296,573 T537A probably benign Het
Abcd3 A C 3: 121,774,010 I434S probably benign Het
Actr2 C T 11: 20,072,514 R319Q probably damaging Het
Atp13a5 G T 16: 29,293,504 Y606* probably null Het
Baiap3 C T 17: 25,250,082 probably null Het
Cers2 A G 3: 95,320,085 Y8C probably benign Het
Ces1g T A 8: 93,317,079 M411L probably benign Het
Chd6 A G 2: 161,052,384 probably benign Het
Cyp2d40 C A 15: 82,761,521 K94N probably benign Het
Ddx51 T C 5: 110,655,621 V323A possibly damaging Het
Dock1 G A 7: 134,744,298 V190I probably benign Het
Evc2 A G 5: 37,419,157 T1042A probably benign Het
Fat4 T A 3: 38,957,155 S2135T probably damaging Het
Gpat2 T C 2: 127,427,566 F46S probably damaging Het
Klhl38 T A 15: 58,322,455 K293* probably null Het
Map4k4 T C 1: 40,014,188 I916T probably damaging Het
Nrap T A 19: 56,345,533 K964M probably damaging Het
Osbpl5 T C 7: 143,699,334 probably null Het
Perm1 A G 4: 156,217,779 Q260R probably benign Het
Ralgapb T A 2: 158,437,394 N133K possibly damaging Het
Slfn9 T C 11: 82,981,196 S905G probably benign Het
Ssh2 C T 11: 77,453,544 T785I probably damaging Het
Stk16 C A 1: 75,213,004 Q69K probably damaging Het
Stk36 T C 1: 74,622,287 L491P probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Trio C A 15: 27,830,239 probably benign Het
Ugt2b1 A G 5: 86,921,991 V297A possibly damaging Het
Ugt2b5 T G 5: 87,137,232 H282P probably damaging Het
Usp53 A G 3: 122,933,843 M1030T probably damaging Het
Vmn1r234 T A 17: 21,229,703 I293N probably damaging Het
Vmn2r57 T A 7: 41,428,074 T223S probably benign Het
Wdr20 G T 12: 110,794,308 E543* probably null Het
Zbtb25 T A 12: 76,349,417 N344Y probably damaging Het
Zcchc2 T C 1: 106,030,168 F790L probably damaging Het
Other mutations in Tcp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03148:Tcp11 APN 17 28070470 missense possibly damaging 0.95
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
R8262:Tcp11 UTSW 17 28067027 missense probably damaging 1.00
R8363:Tcp11 UTSW 17 28069247 missense possibly damaging 0.93
R8465:Tcp11 UTSW 17 28067792 missense probably damaging 1.00
R8675:Tcp11 UTSW 17 28069591 missense probably benign 0.00
Posted On2016-08-02