Incidental Mutation 'R4225:Ctif'
ID 320021
Institutional Source Beutler Lab
Gene Symbol Ctif
Ensembl Gene ENSMUSG00000052928
Gene Name CBP80/20-dependent translation initiation factor
Synonyms LOC269037, Gm672
MMRRC Submission 041045-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4225 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 75564295-75830625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75568308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 610 (I610T)
Ref Sequence ENSEMBL: ENSMUSP00000129974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165559]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000165559
AA Change: I610T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000129974
Gene: ENSMUSG00000052928
AA Change: I610T

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
Meta Mutation Damage Score 0.0691 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (38/38)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,085,106 (GRCm39) I569V possibly damaging Het
Aif1l A T 2: 31,852,251 (GRCm39) S40C probably damaging Het
Arhgef26 A G 3: 62,288,343 (GRCm39) D471G probably benign Het
Atp2a2 A G 5: 122,607,789 (GRCm39) V240A probably benign Het
Bsn A G 9: 107,983,932 (GRCm39) M3374T unknown Het
Ccdc66 A G 14: 27,212,736 (GRCm39) L529P probably damaging Het
Ecpas A T 4: 58,847,027 (GRCm39) Y512N probably damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Esyt1 T C 10: 128,356,517 (GRCm39) Y376C probably damaging Het
Gba2 A T 4: 43,569,464 (GRCm39) probably benign Het
Grin1 T C 2: 25,187,332 (GRCm39) probably benign Het
Herc2 A G 7: 55,814,735 (GRCm39) E2696G probably damaging Het
Itgal A T 7: 126,904,484 (GRCm39) K319M probably damaging Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Lrig1 T A 6: 94,599,639 (GRCm39) I348F probably damaging Het
Mc3r G A 2: 172,090,954 (GRCm39) V59M probably damaging Het
Msh3 T C 13: 92,422,431 (GRCm39) K575R probably benign Het
Musk A T 4: 58,373,240 (GRCm39) M714L probably damaging Het
Odad2 A G 18: 7,181,732 (GRCm39) probably null Het
Pcdhgb7 T A 18: 37,886,856 (GRCm39) D675E probably benign Het
Pkd1 T C 17: 24,812,497 (GRCm39) I3810T possibly damaging Het
Pou2f1 T C 1: 165,738,889 (GRCm39) I177V possibly damaging Het
Rb1 T C 14: 73,506,631 (GRCm39) M373V possibly damaging Het
Ric1 A G 19: 29,580,131 (GRCm39) N1311D possibly damaging Het
Scn3a A G 2: 65,366,771 (GRCm39) Y84H probably damaging Het
Slc25a45 A T 19: 5,930,146 (GRCm39) I39F probably damaging Het
Slc8a1 A G 17: 81,956,781 (GRCm39) F86L probably damaging Het
Spdya G A 17: 71,869,519 (GRCm39) V105I probably benign Het
Sspo G T 6: 48,428,091 (GRCm39) V313L possibly damaging Het
Stard9 A G 2: 120,495,472 (GRCm39) T116A possibly damaging Het
Stpg2 G A 3: 138,921,053 (GRCm39) R86Q probably damaging Het
Tdrd6 C T 17: 43,936,864 (GRCm39) D1395N probably damaging Het
Vmn2r101 T A 17: 19,831,951 (GRCm39) I649N probably damaging Het
Zcchc18 A T X: 135,895,415 (GRCm39) N10I probably damaging 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
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
R6824:Ctif UTSW 18 75,654,782 (GRCm39) missense probably damaging 1.00
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'- CCTTCTGAGGGATCCAATCTCC -3'
(R):5'- TGACCACACTTTTCATCCACAG -3'

Sequencing Primer
(F):5'- GAGGGATCCAATCTCCTCCTTC -3'
(R):5'- ACTTTTCATCCACAGCTACAAAG -3'
Posted On 2015-06-12