Incidental Mutation 'IGL00971:Tsc1'
ID 27001
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsc1
Ensembl Gene ENSMUSG00000026812
Gene Name TSC complex subunit 1
Synonyms tuberous sclerosis 1, hamartin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00971
Quality Score
Status
Chromosome 2
Chromosomal Location 28531240-28581179 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 28560952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 270 (S270*)
Ref Sequence ENSEMBL: ENSMUSP00000115380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028155] [ENSMUST00000113867] [ENSMUST00000113869] [ENSMUST00000113870] [ENSMUST00000156857] [ENSMUST00000133565]
AlphaFold Q9EP53
Predicted Effect probably null
Transcript: ENSMUST00000028155
AA Change: S270*
SMART Domains Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812
AA Change: S270*

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 null
Transcript: ENSMUST00000113867
AA Change: S270*
SMART Domains Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812
AA Change: S270*

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 null
Transcript: ENSMUST00000113869
AA Change: S270*
SMART Domains Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812
AA Change: S270*

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 null
Transcript: ENSMUST00000113870
AA Change: S270*
SMART Domains Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812
AA Change: S270*

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: ENSMUST00000124507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125715
Predicted Effect probably null
Transcript: ENSMUST00000156857
AA Change: S270*
SMART Domains Protein: ENSMUSP00000115380
Gene: ENSMUSG00000026812
AA Change: S270*

DomainStartEndE-ValueType
Pfam:Hamartin 2 348 2.3e-170 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133565
AA Change: S270*
SMART Domains Protein: ENSMUSP00000120888
Gene: ENSMUSG00000026812
AA Change: S270*

DomainStartEndE-ValueType
Pfam:Hamartin 2 455 1.3e-198 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153625
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik C T 14: 35,532,170 (GRCm39) C135Y possibly damaging Het
Afdn T A 17: 14,072,575 (GRCm39) probably benign Het
Akap10 A G 11: 61,795,622 (GRCm39) V347A possibly damaging Het
Ankrd11 A G 8: 123,622,092 (GRCm39) S587P probably damaging Het
Ces1g T C 8: 94,029,660 (GRCm39) Y524C probably damaging Het
Cimip2b A G 4: 43,428,377 (GRCm39) L51P probably damaging Het
Cubn T C 2: 13,283,219 (GRCm39) N3573S possibly damaging Het
Cyp1a1 G T 9: 57,607,990 (GRCm39) C206F probably damaging Het
Fbxo30 T C 10: 11,166,042 (GRCm39) Y255H probably benign Het
Ggnbp2 T C 11: 84,731,230 (GRCm39) I295V possibly damaging Het
Gpatch8 A G 11: 102,370,743 (GRCm39) Y932H unknown Het
Gvin-ps3 G A 7: 105,681,008 (GRCm39) noncoding transcript Het
Heatr6 C T 11: 83,650,135 (GRCm39) P197L probably damaging Het
Helb T C 10: 119,930,168 (GRCm39) D737G possibly damaging Het
Helz A T 11: 107,554,479 (GRCm39) I1226F possibly damaging Het
Ipo11 A T 13: 106,993,277 (GRCm39) I749N probably damaging Het
Ipo13 T C 4: 117,771,564 (GRCm39) E2G possibly damaging Het
Jam3 A C 9: 27,013,188 (GRCm39) D127E probably damaging Het
Kif16b G T 2: 142,553,664 (GRCm39) Q1045K probably benign Het
Kin T C 2: 10,095,159 (GRCm39) W121R possibly damaging Het
Man1b1 T G 2: 25,233,337 (GRCm39) S237A possibly damaging Het
Mmel1 C T 4: 154,972,289 (GRCm39) probably benign Het
Morn4 T C 19: 42,064,559 (GRCm39) N143S possibly damaging Het
Nlrp4b A G 7: 10,448,882 (GRCm39) T362A possibly damaging Het
Ntpcr C T 8: 126,474,501 (GRCm39) T153M probably damaging Het
Or13p10 T A 4: 118,523,475 (GRCm39) F254I probably damaging Het
Pdzd2 A G 15: 12,374,804 (GRCm39) L1777P probably benign Het
Postn A G 3: 54,276,697 (GRCm39) N192S possibly damaging Het
Prkar1a A T 11: 109,551,877 (GRCm39) Y122F probably benign Het
Serpinb7 A G 1: 107,355,976 (GRCm39) probably benign Het
Setd3 A T 12: 108,126,496 (GRCm39) I121N probably damaging Het
Slamf7 T A 1: 171,466,810 (GRCm39) I132L probably benign Het
Syt4 T C 18: 31,580,227 (GRCm39) probably benign Het
Tesc G A 5: 118,194,504 (GRCm39) probably null Het
Wap C A 11: 6,586,808 (GRCm39) C97F probably damaging Het
Zfp451 A G 1: 33,822,234 (GRCm39) S155P probably benign Het
Zfp469 A G 8: 122,996,472 (GRCm39) probably benign Het
Zfp51 C T 17: 21,683,844 (GRCm39) T153M probably benign Het
Zfp579 A G 7: 4,996,390 (GRCm39) I507T 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
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
R6435:Tsc1 UTSW 2 28,566,464 (GRCm39) missense probably benign 0.08
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
Posted On 2013-04-17