Incidental Mutation 'R6824:Ctif'
ID 534077
Institutional Source Beutler Lab
Gene Symbol Ctif
Ensembl Gene ENSMUSG00000052928
Gene Name CBP80/20-dependent translation initiation factor
Synonyms LOC269037, Gm672
MMRRC Submission 044936-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R6824 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 75564295-75830625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75654782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 248 (R248Q)
Ref Sequence ENSEMBL: ENSMUSP00000129974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165559]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000165559
AA Change: R248Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129974
Gene: ENSMUSG00000052928
AA Change: R248Q

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 188 204 N/A INTRINSIC
low complexity region 347 360 N/A INTRINSIC
MIF4G 401 602 5.46e-35 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 A G 6: 39,552,058 (GRCm39) D275G probably benign Het
Cdh4 G A 2: 179,439,351 (GRCm39) R166H probably damaging Het
Chl1 A G 6: 103,691,510 (GRCm39) K1051E probably damaging Het
Chn2 A T 6: 54,249,938 (GRCm39) M16L probably benign Het
Cmas A G 6: 142,716,962 (GRCm39) T285A possibly damaging Het
Cnga4 A T 7: 105,056,036 (GRCm39) M213L probably benign Het
Cyth3 T C 5: 143,672,265 (GRCm39) I60T probably damaging Het
Dach1 A G 14: 98,256,328 (GRCm39) I310T possibly damaging Het
Defb6 T C 8: 19,278,099 (GRCm39) I57T probably benign Het
Dnajc27 T C 12: 4,156,897 (GRCm39) V262A possibly damaging Het
Emsy G A 7: 98,242,614 (GRCm39) T1175M probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fat4 T A 3: 39,011,674 (GRCm39) V2258E probably benign Het
Gm136 G A 4: 34,746,591 (GRCm39) T140I probably benign Het
Gps1 T C 11: 120,678,254 (GRCm39) F265S probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Hnrnpul2 T C 19: 8,804,081 (GRCm39) V560A possibly damaging Het
Kmt2b A G 7: 30,285,701 (GRCm39) probably benign Het
Krt8 T C 15: 101,906,875 (GRCm39) N317S possibly damaging Het
Lad1 A G 1: 135,755,479 (GRCm39) T252A probably benign Het
Maml2 G A 9: 13,608,513 (GRCm39) S743N possibly damaging Het
Mrpl9 C A 3: 94,350,677 (GRCm39) P7H possibly damaging Het
Myb T A 10: 21,021,019 (GRCm39) H470L probably benign Het
Nicol1 T C 5: 34,141,069 (GRCm39) probably benign Het
Nr1i3 T C 1: 171,042,542 (GRCm39) I56T probably benign Het
Nrdc A G 4: 108,900,622 (GRCm39) Y338C probably damaging Het
Or13n4 A G 7: 106,423,664 (GRCm39) V23A probably benign Het
Pcdhb20 T A 18: 37,638,752 (GRCm39) M426K probably benign Het
Pde6d T C 1: 86,473,485 (GRCm39) T104A possibly damaging Het
Ptprz1 A T 6: 23,002,130 (GRCm39) T1407S probably benign Het
Recql5 C T 11: 115,814,038 (GRCm39) R369Q possibly damaging Het
Rnf180 T A 13: 105,318,023 (GRCm39) D463V probably damaging Het
Sart3 C T 5: 113,882,600 (GRCm39) probably null Het
Sdk2 T C 11: 113,758,760 (GRCm39) D488G probably benign Het
Slc9a9 C T 9: 95,109,251 (GRCm39) P538S probably damaging Het
Snap29 A G 16: 17,240,370 (GRCm39) K159E probably benign Het
Spaca1 A G 4: 34,049,869 (GRCm39) V43A probably benign Het
Stk10 T C 11: 32,537,363 (GRCm39) S191P probably damaging Het
Tbc1d1 A G 5: 64,414,245 (GRCm39) H73R probably benign Het
Tcerg1l A G 7: 137,995,844 (GRCm39) probably null Het
Tmem67 T C 4: 12,051,449 (GRCm39) Y793C probably damaging Het
Ttll12 A T 15: 83,475,578 (GRCm39) probably null Het
Vmn2r61 G T 7: 41,949,403 (GRCm39) V608L probably benign Het
Xpo4 A T 14: 57,850,860 (GRCm39) I348N probably damaging Het
Zfp941 G A 7: 140,392,612 (GRCm39) T249M probably benign Het
Other mutations in Ctif
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Ctif APN 18 75,570,247 (GRCm39) missense possibly damaging 0.95
IGL01481:Ctif APN 18 75,744,855 (GRCm39) splice site probably benign
IGL02299:Ctif APN 18 75,770,316 (GRCm39) missense probably damaging 1.00
IGL02319:Ctif APN 18 75,654,944 (GRCm39) splice site probably benign
IGL03130:Ctif APN 18 75,654,689 (GRCm39) missense probably benign
R0304:Ctif UTSW 18 75,654,889 (GRCm39) missense probably benign 0.09
R0730:Ctif UTSW 18 75,698,083 (GRCm39) missense probably damaging 0.99
R0835:Ctif UTSW 18 75,568,407 (GRCm39) missense probably damaging 1.00
R1226:Ctif UTSW 18 75,654,650 (GRCm39) small deletion probably benign
R1302:Ctif UTSW 18 75,654,749 (GRCm39) missense probably benign 0.22
R1549:Ctif UTSW 18 75,698,096 (GRCm39) missense probably damaging 1.00
R1674:Ctif UTSW 18 75,770,251 (GRCm39) missense probably benign 0.00
R1697:Ctif UTSW 18 75,757,376 (GRCm39) splice site probably benign
R1848:Ctif UTSW 18 75,653,012 (GRCm39) missense probably damaging 0.96
R2102:Ctif UTSW 18 75,654,452 (GRCm39) missense probably benign
R3499:Ctif UTSW 18 75,744,828 (GRCm39) missense possibly damaging 0.94
R3878:Ctif UTSW 18 75,653,048 (GRCm39) missense probably damaging 0.96
R4157:Ctif UTSW 18 75,568,341 (GRCm39) missense probably benign 0.42
R4168:Ctif UTSW 18 75,770,286 (GRCm39) missense probably damaging 1.00
R4225:Ctif UTSW 18 75,568,308 (GRCm39) missense probably benign 0.01
R4560:Ctif UTSW 18 75,652,952 (GRCm39) missense probably damaging 1.00
R4822:Ctif UTSW 18 75,654,632 (GRCm39) missense probably benign 0.01
R5176:Ctif UTSW 18 75,770,290 (GRCm39) missense probably damaging 1.00
R5824:Ctif UTSW 18 75,743,749 (GRCm39) missense possibly damaging 0.55
R6934:Ctif UTSW 18 75,568,431 (GRCm39) missense probably benign 0.07
R7014:Ctif UTSW 18 75,570,279 (GRCm39) missense possibly damaging 0.82
R7115:Ctif UTSW 18 75,604,874 (GRCm39) critical splice donor site probably benign
R7169:Ctif UTSW 18 75,605,087 (GRCm39) missense probably damaging 0.99
R7187:Ctif UTSW 18 75,770,290 (GRCm39) missense probably damaging 1.00
R7355:Ctif UTSW 18 75,743,756 (GRCm39) missense probably damaging 0.98
R7402:Ctif UTSW 18 75,744,807 (GRCm39) missense probably benign 0.18
R7451:Ctif UTSW 18 75,652,874 (GRCm39) missense possibly damaging 0.82
R7648:Ctif UTSW 18 75,770,213 (GRCm39) missense probably benign 0.04
R7671:Ctif UTSW 18 75,605,087 (GRCm39) missense probably damaging 0.99
R7746:Ctif UTSW 18 75,604,874 (GRCm39) critical splice donor site probably benign
R7765:Ctif UTSW 18 75,738,715 (GRCm39) missense probably damaging 1.00
R8151:Ctif UTSW 18 75,653,176 (GRCm39) missense probably benign
R8358:Ctif UTSW 18 75,698,115 (GRCm39) missense possibly damaging 0.68
R8782:Ctif UTSW 18 75,654,868 (GRCm39) missense probably benign 0.35
R8829:Ctif UTSW 18 75,604,874 (GRCm39) critical splice donor site probably benign
R8963:Ctif UTSW 18 75,604,874 (GRCm39) critical splice donor site probably benign
R9032:Ctif UTSW 18 75,604,874 (GRCm39) critical splice donor site probably benign
R9069:Ctif UTSW 18 75,654,458 (GRCm39) missense probably damaging 0.99
R9631:Ctif UTSW 18 75,605,025 (GRCm39) missense probably benign 0.03
R9645:Ctif UTSW 18 75,757,352 (GRCm39) missense probably benign 0.20
X0027:Ctif UTSW 18 75,770,334 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGCTCAGGAAGAACAGTGTC -3'
(R):5'- TTCGTAGACGGCAGCAAAG -3'

Sequencing Primer
(F):5'- CGCTCAGGAAGAACAGTGTCTTTATG -3'
(R):5'- GTAGACGGCAGCAAAGACCTC -3'
Posted On 2018-09-12