Incidental Mutation 'IGL00228:Crtc1'
ID2309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crtc1
Ensembl Gene ENSMUSG00000003575
Gene NameCREB regulated transcription coactivator 1
SynonymsMect1, TORC1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.372) question?
Stock #IGL00228
Quality Score
Status
Chromosome8
Chromosomal Location70382355-70439579 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70439522 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 13 (K13E)
Ref Sequence ENSEMBL: ENSMUSP00000075916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076615]
Predicted Effect probably benign
Transcript: ENSMUST00000076615
AA Change: K13E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: K13E

DomainStartEndE-ValueType
Pfam:TORC_N 6 66 1.1e-26 PFAM
Pfam:TORC_M 148 289 4.8e-64 PFAM
low complexity region 359 394 N/A INTRINSIC
Pfam:TORC_C 555 630 9.2e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142769
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an inactivating mutation in this gene are hyperphagic, obese and infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 G A 13: 104,429,790 G731D possibly damaging Het
Adgre4 C T 17: 55,802,135 L381F probably damaging Het
Baz2a A G 10: 128,124,935 T1538A probably benign Het
C1qtnf6 T C 15: 78,524,894 Y251C probably damaging Het
Cgn T C 3: 94,765,548 N941S probably benign Het
Clca4b T C 3: 144,932,391 I37V probably benign Het
Cubn A G 2: 13,456,697 L673P probably damaging Het
Cyp4f18 C T 8: 71,989,927 V395I probably damaging Het
Def8 A G 8: 123,459,650 D400G possibly damaging Het
Dvl1 A G 4: 155,853,698 D101G possibly damaging Het
Fbxw20 T A 9: 109,234,702 M1L probably damaging Het
Gad2 C T 2: 22,685,386 H501Y probably benign Het
Herc3 C T 6: 58,874,263 P499L probably damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kyat3 G A 3: 142,726,257 V249I probably damaging Het
Med28 A G 5: 45,523,470 E92G probably damaging Het
Nup155 T C 15: 8,121,455 probably benign Het
Nxf1 T C 19: 8,762,742 I91T possibly damaging Het
Olfr150 T C 9: 39,737,499 I228T probably damaging Het
Orc5 T A 5: 22,523,539 T305S probably damaging Het
Psme4 T C 11: 30,815,710 probably null Het
Rtca A G 3: 116,504,461 C100R probably damaging Het
Sept14 G T 5: 129,683,651 H377N probably benign Het
Shcbp1l A T 1: 153,435,807 N258I possibly damaging Het
Shisa4 A C 1: 135,373,285 S82R probably damaging Het
Slc38a10 C T 11: 120,138,988 V167M probably damaging Het
Soga3 T A 10: 29,196,473 L587* probably null Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Spata18 G A 5: 73,657,754 E69K possibly damaging Het
Srsf2 A C 11: 116,852,270 probably benign Het
Taf1b T A 12: 24,547,067 V335E possibly damaging Het
Tenm4 G A 7: 96,868,009 V1399I probably benign Het
Topbp1 C T 9: 103,344,943 R1338C probably benign Het
Ugt1a5 A G 1: 88,166,440 E130G probably benign Het
Wdfy2 T A 14: 62,944,077 S219T probably damaging Het
Zbtb38 C A 9: 96,687,494 R512S probably damaging Het
Zfp574 T C 7: 25,081,590 V679A probably benign Het
Other mutations in Crtc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01361:Crtc1 APN 8 70387603 missense probably damaging 1.00
IGL02883:Crtc1 APN 8 70406125 missense probably benign 0.28
R0049:Crtc1 UTSW 8 70391859 critical splice donor site probably null
R0196:Crtc1 UTSW 8 70386221 missense probably damaging 1.00
R0514:Crtc1 UTSW 8 70402429 critical splice donor site probably null
R0588:Crtc1 UTSW 8 70439549 missense probably damaging 0.99
R0744:Crtc1 UTSW 8 70393013 missense probably benign 0.00
R0833:Crtc1 UTSW 8 70393013 missense probably benign 0.00
R0836:Crtc1 UTSW 8 70393013 missense probably benign 0.00
R0905:Crtc1 UTSW 8 70391255 missense probably damaging 1.00
R1016:Crtc1 UTSW 8 70392119 nonsense probably null
R1300:Crtc1 UTSW 8 70387539 critical splice donor site probably null
R1533:Crtc1 UTSW 8 70398299 missense probably damaging 1.00
R1843:Crtc1 UTSW 8 70388152 missense probably benign 0.00
R2393:Crtc1 UTSW 8 70388158 missense probably benign
R4867:Crtc1 UTSW 8 70402514 missense probably damaging 1.00
R5339:Crtc1 UTSW 8 70397733 splice site probably benign
R6062:Crtc1 UTSW 8 70406189 missense probably damaging 1.00
R6342:Crtc1 UTSW 8 70439557 start codon destroyed probably null 0.95
R6912:Crtc1 UTSW 8 70398311 missense probably damaging 1.00
Posted On2011-12-09