Incidental Mutation 'IGL01361:Crtc1'
ID75740
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: 0.443) question?
Stock #IGL01361
Quality Score
Status
Chromosome8
Chromosomal Location70382355-70439579 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70387603 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 540 (L540P)
Ref Sequence ENSEMBL: ENSMUSP00000075916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076615]
Predicted Effect probably damaging
Transcript: ENSMUST00000076615
AA Change: L540P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: L540P

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: 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 T A 11: 5,596,706 probably benign Het
C1qtnf3 G A 15: 10,960,682 G157D probably damaging Het
Cacna1b T C 2: 24,679,095 E940G possibly damaging Het
Camta1 A G 4: 151,144,692 L561P probably damaging Het
Car15 T C 16: 17,837,854 Y27C probably damaging Het
Catsper1 G T 19: 5,339,479 S474I probably damaging Het
Cps1 A G 1: 67,195,145 D897G probably benign Het
Fdps A G 3: 89,094,442 probably benign Het
Gprc6a A G 10: 51,615,430 I741T probably damaging Het
Hdac7 A C 15: 97,811,442 M47R possibly damaging Het
Kalrn T C 16: 34,175,722 probably benign Het
Kat14 C A 2: 144,406,620 probably null Het
Kcnu1 T C 8: 25,886,768 V390A possibly damaging Het
Kdm5a T A 6: 120,399,016 Y578N probably damaging Het
Lrp1b T C 2: 41,110,751 probably benign Het
Mpc2 G T 1: 165,479,523 A98S probably benign Het
Nek10 T C 14: 14,850,957 I334T probably damaging Het
Nufip2 T A 11: 77,692,370 V370E possibly damaging Het
Nup160 C A 2: 90,684,012 Y101* probably null Het
Obscn T A 11: 59,028,889 Y6174F probably damaging Het
Omp A T 7: 98,145,282 I46N probably benign Het
Pcbp4 A T 9: 106,463,249 probably null Het
Pctp A G 11: 89,988,726 V103A probably damaging Het
Pla2r1 A G 2: 60,479,470 Y590H probably damaging Het
Ppfibp2 T C 7: 107,744,301 probably null Het
Reln G A 5: 21,919,021 T2829M probably benign Het
Sh3yl1 T A 12: 30,939,564 probably benign Het
Sipa1l3 A T 7: 29,348,687 Y210N probably damaging Het
Slc33a1 C A 3: 63,943,412 C497F probably damaging Het
Srp9 G A 1: 182,131,337 C25Y probably damaging Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Usf3 C A 16: 44,212,637 probably null Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Vps13a C T 19: 16,743,007 A405T probably damaging Het
Zan A T 5: 137,414,342 probably benign Het
Zcchc6 A T 13: 59,785,800 I894K probably damaging Het
Other mutations in Crtc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Crtc1 APN 8 70439522 missense probably benign 0.01
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 On2013-10-07