Incidental Mutation 'R1016:Crtc1'
ID 96326
Institutional Source Beutler Lab
Gene Symbol Crtc1
Ensembl Gene ENSMUSG00000003575
Gene Name CREB regulated transcription coactivator 1
Synonyms Mect1, TORC1
MMRRC Submission 039120-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R1016 (G1)
Quality Score 200
Status Not validated
Chromosome 8
Chromosomal Location 70835005-70892229 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 70844769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 351 (Y351*)
Ref Sequence ENSEMBL: ENSMUSP00000075916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076615]
AlphaFold Q68ED7
Predicted Effect probably null
Transcript: ENSMUST00000076615
AA Change: Y351*
SMART Domains Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: Y351*

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
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.6%
  • 20x: 84.3%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ceacam20 T A 7: 19,710,227 (GRCm39) H6Q probably null Het
Clstn1 T C 4: 149,731,286 (GRCm39) I866T probably benign Het
Cntnap1 T C 11: 101,068,333 (GRCm39) V86A probably damaging Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cyp2j12 C T 4: 96,001,102 (GRCm39) probably null Het
Dmrt2 A T 19: 25,652,938 (GRCm39) K183N probably damaging Het
Fancl G T 11: 26,337,195 (GRCm39) probably benign Het
Fbxo40 G A 16: 36,789,539 (GRCm39) Q524* probably null Het
Flcn T C 11: 59,686,691 (GRCm39) probably null Het
Gm19965 T A 1: 116,749,031 (GRCm39) C237* probably null Het
Hpf1 A G 8: 61,348,678 (GRCm39) Y131C possibly damaging Het
Mdh1 A G 11: 21,509,769 (GRCm39) L202P probably benign Het
Mpl T C 4: 118,306,110 (GRCm39) Y310C probably damaging Het
Mtus1 A G 8: 41,503,063 (GRCm39) V784A probably benign Het
Myg1 T C 15: 102,242,786 (GRCm39) I159T possibly damaging Het
Nans T C 4: 46,500,716 (GRCm39) Y203H probably benign Het
Ncapg2 G A 12: 116,402,295 (GRCm39) C709Y probably damaging Het
Or8b36 T C 9: 37,937,987 (GRCm39) V295A probably damaging Het
Parp12 T C 6: 39,088,660 (GRCm39) Y192C probably damaging Het
Plekha6 A G 1: 133,187,832 (GRCm39) N118D probably benign Het
Prg4 T C 1: 150,330,442 (GRCm39) probably benign Het
Psip1 T C 4: 83,378,135 (GRCm39) T454A possibly damaging Het
Ptprz1 T C 6: 23,000,973 (GRCm39) L1021P probably damaging Het
Pvr T C 7: 19,643,142 (GRCm39) I364V probably benign Het
Serpina5 A G 12: 104,071,582 (GRCm39) I396M probably damaging Het
Sgcb A C 5: 73,797,183 (GRCm39) H192Q probably benign Het
Slc4a9 C A 18: 36,664,478 (GRCm39) H379N probably benign Het
Tet1 T C 10: 62,715,729 (GRCm39) D22G probably benign Het
Trim34a T C 7: 103,897,167 (GRCm39) V77A probably benign Het
Ttc7b T C 12: 100,369,617 (GRCm39) E384G probably null Het
Vmn2r16 G A 5: 109,487,754 (GRCm39) G209D probably damaging Het
Other mutations in Crtc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Crtc1 APN 8 70,892,172 (GRCm39) missense probably benign 0.01
IGL01361:Crtc1 APN 8 70,840,253 (GRCm39) missense probably damaging 1.00
IGL02883:Crtc1 APN 8 70,858,775 (GRCm39) missense probably benign 0.28
R0049:Crtc1 UTSW 8 70,844,509 (GRCm39) critical splice donor site probably null
R0196:Crtc1 UTSW 8 70,838,871 (GRCm39) missense probably damaging 1.00
R0514:Crtc1 UTSW 8 70,855,079 (GRCm39) critical splice donor site probably null
R0588:Crtc1 UTSW 8 70,892,199 (GRCm39) missense probably damaging 0.99
R0744:Crtc1 UTSW 8 70,845,663 (GRCm39) missense probably benign 0.00
R0833:Crtc1 UTSW 8 70,845,663 (GRCm39) missense probably benign 0.00
R0836:Crtc1 UTSW 8 70,845,663 (GRCm39) missense probably benign 0.00
R0905:Crtc1 UTSW 8 70,843,905 (GRCm39) missense probably damaging 1.00
R1300:Crtc1 UTSW 8 70,840,189 (GRCm39) critical splice donor site probably null
R1533:Crtc1 UTSW 8 70,850,949 (GRCm39) missense probably damaging 1.00
R1843:Crtc1 UTSW 8 70,840,802 (GRCm39) missense probably benign 0.00
R2393:Crtc1 UTSW 8 70,840,808 (GRCm39) missense probably benign
R4867:Crtc1 UTSW 8 70,855,164 (GRCm39) missense probably damaging 1.00
R5339:Crtc1 UTSW 8 70,850,383 (GRCm39) splice site probably benign
R6062:Crtc1 UTSW 8 70,858,839 (GRCm39) missense probably damaging 1.00
R6342:Crtc1 UTSW 8 70,892,207 (GRCm39) start codon destroyed probably null 0.95
R6912:Crtc1 UTSW 8 70,850,961 (GRCm39) missense probably damaging 1.00
R7910:Crtc1 UTSW 8 70,840,251 (GRCm39) missense probably benign 0.08
R8852:Crtc1 UTSW 8 70,840,805 (GRCm39) missense probably damaging 1.00
R8860:Crtc1 UTSW 8 70,840,805 (GRCm39) missense probably damaging 1.00
R8985:Crtc1 UTSW 8 70,855,092 (GRCm39) missense probably damaging 0.96
R9539:Crtc1 UTSW 8 70,892,115 (GRCm39) missense probably benign
R9738:Crtc1 UTSW 8 70,840,205 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACCCTGTGTAAAGCTGATGGC -3'
(R):5'- TCCTGTGTGAGATCCACCCTCAAC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- ACAAGTTGGGCTCCCTTGC -3'
Posted On 2014-01-05