Incidental Mutation 'IGL03068:Tsc1'
ID409793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsc1
Ensembl Gene ENSMUSG00000026812
Gene Nametuberous sclerosis 1
Synonymshamartin
Accession Numbers

Ncbi RefSeq: NM_022887.3; MGI: 1929183

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03068
Quality Score
Status
Chromosome2
Chromosomal Location28641228-28691167 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 28681258 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 816 (K816M)
Ref Sequence ENSEMBL: ENSMUSP00000109501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028155] [ENSMUST00000113867] [ENSMUST00000113869] [ENSMUST00000113870] [ENSMUST00000133565]
Predicted Effect probably damaging
Transcript: ENSMUST00000028155
AA Change: K816M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812
AA Change: K816M

DomainStartEndE-ValueType
Pfam:Hamartin 2 715 2.2e-281 PFAM
SCOP:d1eq1a_ 723 886 4e-11 SMART
low complexity region 974 990 N/A INTRINSIC
low complexity region 1025 1042 N/A INTRINSIC
low complexity region 1099 1117 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113867
AA Change: K811M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812
AA Change: K811M

DomainStartEndE-ValueType
Pfam:Hamartin 2 710 7.3e-279 PFAM
SCOP:d1eq1a_ 718 881 6e-11 SMART
low complexity region 969 985 N/A INTRINSIC
low complexity region 1020 1037 N/A INTRINSIC
low complexity region 1094 1112 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113869
AA Change: K817M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812
AA Change: K817M

DomainStartEndE-ValueType
Pfam:Hamartin 7 716 6e-279 PFAM
SCOP:d1eq1a_ 724 887 4e-11 SMART
low complexity region 975 991 N/A INTRINSIC
low complexity region 1026 1043 N/A INTRINSIC
low complexity region 1100 1118 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113870
AA Change: K816M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812
AA Change: K816M

DomainStartEndE-ValueType
Pfam:Hamartin 2 715 2.2e-281 PFAM
SCOP:d1eq1a_ 723 886 4e-11 SMART
low complexity region 974 990 N/A INTRINSIC
low complexity region 1025 1042 N/A INTRINSIC
low complexity region 1099 1117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133565
SMART Domains Protein: ENSMUSP00000120888
Gene: ENSMUSG00000026812

DomainStartEndE-ValueType
Pfam:Hamartin 2 455 1.3e-198 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 2183900
Lethality: E10-E12
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mutants show liver hypoplasia, open neural tube and die by embryonic day 10.5-11.5. Heterozygotes develop kidney cystadenomas and liver hemangiomas. Conditional astrocyte-specific nulls show increased astrocyte numbers and seizures. [provided by MGI curators]
Allele List at MGI

All alleles(38) : Targeted(7) Gene trapped(31)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,417,378 L14P probably damaging Het
Ak2 G T 4: 129,008,026 probably benign Het
Appbp2 T C 11: 85,201,420 Y311C probably damaging Het
Arl9 C A 5: 77,007,378 L119I possibly damaging Het
Atp1a1 T C 3: 101,583,859 H620R probably benign Het
Cfap52 T C 11: 67,935,856 D381G probably benign Het
Cngb3 T C 4: 19,375,246 F292S possibly damaging Het
Comtd1 G A 14: 21,847,643 R203C probably damaging Het
Crmp1 G T 5: 37,265,289 A147S possibly damaging Het
Csmd3 T A 15: 47,847,121 H1586L possibly damaging Het
Ctnna1 G A 18: 35,249,732 E644K possibly damaging Het
Dock3 T C 9: 106,964,759 D957G possibly damaging Het
Ear1 G T 14: 43,819,045 S122* probably null Het
Eefsec G T 6: 88,258,227 Q576K probably benign Het
Efcab5 T A 11: 77,104,101 I1215L probably benign Het
Etfa A T 9: 55,487,482 D160E probably benign Het
Exoc7 G A 11: 116,301,134 R197C possibly damaging Het
G6pc A G 11: 101,370,750 D92G probably benign Het
Gm3182 T A 14: 4,483,921 probably null Het
Gm4952 A G 19: 12,623,704 N96S probably damaging Het
Gpr156 G A 16: 37,992,129 V276M probably damaging Het
Irs2 A G 8: 11,004,974 S1153P probably damaging Het
Kif21b T C 1: 136,158,355 probably benign Het
Lmo7 A T 14: 101,875,492 probably benign Het
Mapk4 G T 18: 73,970,344 N31K probably damaging Het
Mccc2 T C 13: 99,963,811 T357A probably damaging Het
Mpeg1 A G 19: 12,462,206 T343A probably benign Het
Myo3b G T 2: 70,426,816 probably benign Het
Pald1 T C 10: 61,321,184 E829G possibly damaging Het
Pde11a A G 2: 76,017,864 I873T probably damaging Het
Samd9l T A 6: 3,375,348 K638* probably null Het
Sema4d A G 13: 51,708,886 S479P probably damaging Het
Slc12a2 T C 18: 57,904,335 probably benign Het
Slc47a2 T C 11: 61,303,943 N470S probably damaging Het
Spag17 C T 3: 100,080,205 P1604S probably benign Het
Taf8 C A 17: 47,501,365 V39L probably damaging Het
Tlr11 A G 14: 50,361,484 E309G probably benign Het
Tmem260 A G 14: 48,486,914 probably benign Het
Ttc29 A G 8: 78,325,551 I354V probably benign Het
Ttll3 A T 6: 113,409,197 N665Y probably damaging Het
Ubr4 A G 4: 139,409,730 T971A probably benign Het
Vmn2r96 T A 17: 18,582,875 I349N probably benign Het
Vwa5a A G 9: 38,734,847 T504A probably benign Het
Ythdf3 T A 3: 16,204,718 V354E possibly damaging Het
Zan C A 5: 137,476,415 G13V probably damaging Het
Other mutations in Tsc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Tsc1 APN 2 28661611 missense probably damaging 0.98
IGL00770:Tsc1 APN 2 28665011 missense probably damaging 1.00
IGL00774:Tsc1 APN 2 28665011 missense probably damaging 1.00
IGL00835:Tsc1 APN 2 28672466 missense possibly damaging 0.93
IGL00971:Tsc1 APN 2 28670940 nonsense probably null
IGL01808:Tsc1 APN 2 28662507 missense probably damaging 1.00
IGL02281:Tsc1 APN 2 28663595 missense probably damaging 1.00
Cassava UTSW 2 28671886 splice site probably null
R0077:Tsc1 UTSW 2 28678943 splice site probably benign
R0149:Tsc1 UTSW 2 28670901 missense probably damaging 0.99
R0605:Tsc1 UTSW 2 28671778 missense probably damaging 1.00
R0737:Tsc1 UTSW 2 28670930 missense possibly damaging 0.94
R1199:Tsc1 UTSW 2 28665626 missense probably damaging 1.00
R1751:Tsc1 UTSW 2 28676026 missense probably damaging 0.97
R1757:Tsc1 UTSW 2 28686113 missense probably benign 0.05
R1807:Tsc1 UTSW 2 28686113 missense probably benign 0.05
R2014:Tsc1 UTSW 2 28665637 splice site probably benign
R2284:Tsc1 UTSW 2 28665097 missense possibly damaging 0.85
R3786:Tsc1 UTSW 2 28687142 missense probably damaging 1.00
R4490:Tsc1 UTSW 2 28670925 missense probably damaging 0.97
R4707:Tsc1 UTSW 2 28672407 missense probably damaging 1.00
R4751:Tsc1 UTSW 2 28679081 missense probably damaging 0.96
R4794:Tsc1 UTSW 2 28661690 splice site probably null
R4906:Tsc1 UTSW 2 28675189 missense possibly damaging 0.81
R5020:Tsc1 UTSW 2 28676519 missense probably damaging 1.00
R5401:Tsc1 UTSW 2 28686908 nonsense probably null
R5708:Tsc1 UTSW 2 28665185 intron probably benign
R6435:Tsc1 UTSW 2 28676452 missense probably benign 0.08
R6469:Tsc1 UTSW 2 28671886 splice site probably null
R6502:Tsc1 UTSW 2 28665601 missense probably damaging 1.00
R6617:Tsc1 UTSW 2 28686989 missense possibly damaging 0.82
R7098:Tsc1 UTSW 2 28675732 missense probably benign 0.00
R7503:Tsc1 UTSW 2 28687076 missense possibly damaging 0.50
R7608:Tsc1 UTSW 2 28658736 missense probably benign 0.01
R7677:Tsc1 UTSW 2 28672817 missense probably benign 0.11
R7791:Tsc1 UTSW 2 28681948 missense probably damaging 1.00
Posted On2016-08-02