Incidental Mutation 'R6435:Tsc1'
ID 518734
Institutional Source Beutler Lab
Gene Symbol Tsc1
Ensembl Gene ENSMUSG00000026812
Gene Name TSC complex subunit 1
Synonyms tuberous sclerosis 1, hamartin
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6435 (G1)
Quality Score 220.009
Status Validated
Chromosome 2
Chromosomal Location 28531240-28581179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28566464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 627 (V627M)
Ref Sequence ENSEMBL: ENSMUSP00000109501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028155] [ENSMUST00000113867] [ENSMUST00000113869] [ENSMUST00000113870] [ENSMUST00000133565] [ENSMUST00000156857]
AlphaFold Q9EP53
Predicted Effect probably benign
Transcript: ENSMUST00000028155
AA Change: V627M

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812
AA Change: V627M

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: ENSMUST00000113867
AA Change: V627M

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812
AA Change: V627M

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 benign
Transcript: ENSMUST00000113869
AA Change: V628M

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812
AA Change: V628M

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 benign
Transcript: ENSMUST00000113870
AA Change: V627M

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812
AA Change: V627M

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 noncoding transcript
Transcript: ENSMUST00000125715
Predicted Effect probably benign
Transcript: ENSMUST00000133565
SMART Domains Protein: ENSMUSP00000120888
Gene: ENSMUSG00000026812

DomainStartEndE-ValueType
Pfam:Hamartin 2 455 1.3e-198 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156857
SMART Domains Protein: ENSMUSP00000115380
Gene: ENSMUSG00000026812

DomainStartEndE-ValueType
Pfam:Hamartin 2 348 2.3e-170 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139642
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
MGI Phenotype 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Chmp2a A T 7: 12,766,701 (GRCm39) Y72* probably null Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Defa24 T A 8: 22,224,690 (GRCm39) F46L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Gfpt2 A G 11: 49,726,478 (GRCm39) S628G probably benign Het
Hsdl2 C A 4: 59,610,668 (GRCm39) Q222K unknown Het
Ighv1-9 T A 12: 114,547,206 (GRCm39) I111F probably benign Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mfsd6 G T 1: 52,748,603 (GRCm39) Y87* probably null Het
Mybpc2 A G 7: 44,155,481 (GRCm39) V924A possibly damaging Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Nscme3l T C 19: 5,553,446 (GRCm39) I112V probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Sdccag8 G T 1: 176,642,428 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably damaging Het
Other mutations in Tsc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Tsc1 APN 2 28,551,623 (GRCm39) missense probably damaging 0.98
IGL00770:Tsc1 APN 2 28,555,023 (GRCm39) missense probably damaging 1.00
IGL00774:Tsc1 APN 2 28,555,023 (GRCm39) missense probably damaging 1.00
IGL00835:Tsc1 APN 2 28,562,478 (GRCm39) missense possibly damaging 0.93
IGL00971:Tsc1 APN 2 28,560,952 (GRCm39) nonsense probably null
IGL01808:Tsc1 APN 2 28,552,519 (GRCm39) missense probably damaging 1.00
IGL02281:Tsc1 APN 2 28,553,607 (GRCm39) missense probably damaging 1.00
IGL03068:Tsc1 APN 2 28,571,270 (GRCm39) missense probably damaging 1.00
Cassava UTSW 2 28,561,898 (GRCm39) splice site probably null
R0077:Tsc1 UTSW 2 28,568,955 (GRCm39) splice site probably benign
R0149:Tsc1 UTSW 2 28,560,913 (GRCm39) missense probably damaging 0.99
R0605:Tsc1 UTSW 2 28,561,790 (GRCm39) missense probably damaging 1.00
R0737:Tsc1 UTSW 2 28,560,942 (GRCm39) missense possibly damaging 0.94
R1199:Tsc1 UTSW 2 28,555,638 (GRCm39) missense probably damaging 1.00
R1751:Tsc1 UTSW 2 28,566,038 (GRCm39) missense probably damaging 0.97
R1757:Tsc1 UTSW 2 28,576,125 (GRCm39) missense probably benign 0.05
R1807:Tsc1 UTSW 2 28,576,125 (GRCm39) missense probably benign 0.05
R2014:Tsc1 UTSW 2 28,555,649 (GRCm39) splice site probably benign
R2284:Tsc1 UTSW 2 28,555,109 (GRCm39) missense possibly damaging 0.85
R3786:Tsc1 UTSW 2 28,577,154 (GRCm39) missense probably damaging 1.00
R4490:Tsc1 UTSW 2 28,560,937 (GRCm39) missense probably damaging 0.97
R4707:Tsc1 UTSW 2 28,562,419 (GRCm39) missense probably damaging 1.00
R4751:Tsc1 UTSW 2 28,569,093 (GRCm39) missense probably damaging 0.96
R4794:Tsc1 UTSW 2 28,551,702 (GRCm39) splice site probably null
R4906:Tsc1 UTSW 2 28,565,201 (GRCm39) missense possibly damaging 0.81
R5020:Tsc1 UTSW 2 28,566,531 (GRCm39) missense probably damaging 1.00
R5401:Tsc1 UTSW 2 28,576,920 (GRCm39) nonsense probably null
R5708:Tsc1 UTSW 2 28,555,197 (GRCm39) intron probably benign
R6469:Tsc1 UTSW 2 28,561,898 (GRCm39) splice site probably null
R6502:Tsc1 UTSW 2 28,555,613 (GRCm39) missense probably damaging 1.00
R6617:Tsc1 UTSW 2 28,577,001 (GRCm39) missense possibly damaging 0.82
R7098:Tsc1 UTSW 2 28,565,744 (GRCm39) missense probably benign 0.00
R7503:Tsc1 UTSW 2 28,577,088 (GRCm39) missense possibly damaging 0.50
R7608:Tsc1 UTSW 2 28,548,748 (GRCm39) missense probably benign 0.01
R7677:Tsc1 UTSW 2 28,562,829 (GRCm39) missense probably benign 0.11
R7791:Tsc1 UTSW 2 28,571,960 (GRCm39) missense probably damaging 1.00
R8021:Tsc1 UTSW 2 28,576,901 (GRCm39) missense possibly damaging 0.67
R8203:Tsc1 UTSW 2 28,563,007 (GRCm39) splice site probably null
R8228:Tsc1 UTSW 2 28,566,141 (GRCm39) missense probably benign 0.23
R9057:Tsc1 UTSW 2 28,575,874 (GRCm39) missense probably damaging 1.00
R9088:Tsc1 UTSW 2 28,552,617 (GRCm39) missense possibly damaging 0.94
R9201:Tsc1 UTSW 2 28,576,791 (GRCm39) missense probably benign
R9386:Tsc1 UTSW 2 28,561,858 (GRCm39) missense probably benign
R9731:Tsc1 UTSW 2 28,566,486 (GRCm39) missense probably benign 0.00
R9780:Tsc1 UTSW 2 28,565,761 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGCAGTGCTGATGTCAGTC -3'
(R):5'- GTATAGGTGGACAGGGTAGCTC -3'

Sequencing Primer
(F):5'- AGGGATCGCCAGACTTCTCTG -3'
(R):5'- ACAGGGTAGCTCTGCTCTG -3'
Posted On 2018-05-24