Incidental Mutation 'IGL01481:Ctif'
ID 88634
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctif
Ensembl Gene ENSMUSG00000052928
Gene Name CBP80/20-dependent translation initiation factor
Synonyms LOC269037, Gm672
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL01481
Quality Score
Status
Chromosome 18
Chromosomal Location 75564295-75830625 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 75744855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000129974
Gene: ENSMUSG00000052928

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
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,910,079 (GRCm39) S523C probably damaging Het
Apaf1 A T 10: 90,867,450 (GRCm39) D798E possibly damaging Het
Arhgef7 G T 8: 11,865,256 (GRCm39) V410L probably benign Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Cldn17 A G 16: 88,303,471 (GRCm39) V86A probably benign Het
Clec4a2 A G 6: 123,119,459 (GRCm39) N237S probably benign Het
Cmtr1 T G 17: 29,917,631 (GRCm39) I654S probably benign Het
Cryzl2 G A 1: 157,298,309 (GRCm39) probably null Het
Dcaf7 T A 11: 105,945,572 (GRCm39) I307N probably damaging Het
Drosha A T 15: 12,842,525 (GRCm39) T399S probably benign Het
Eef2k A T 7: 120,494,441 (GRCm39) Y35F probably benign Het
Emc1 T C 4: 139,089,410 (GRCm39) S193P probably benign Het
Fpr2 T C 17: 18,113,025 (GRCm39) I7T probably benign Het
Fras1 C A 5: 96,805,100 (GRCm39) N1247K probably damaging Het
Gipr T C 7: 18,893,431 (GRCm39) probably benign Het
Heatr5a C T 12: 52,002,208 (GRCm39) G243S probably damaging Het
Hivep2 G A 10: 14,024,981 (GRCm39) R2265Q probably benign Het
Iars1 T C 13: 49,882,174 (GRCm39) S1073P probably benign Het
Inpp4b T C 8: 82,724,009 (GRCm39) S514P probably damaging Het
Inpp5b T A 4: 124,694,492 (GRCm39) probably null Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Itih5 A C 2: 10,195,100 (GRCm39) Q164P probably damaging Het
Map3k19 T A 1: 127,750,215 (GRCm39) E1045D probably damaging Het
Mbd5 T C 2: 49,168,951 (GRCm39) V1374A possibly damaging Het
Mrps34 T C 17: 25,116,310 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,321 (GRCm39) D191G probably damaging Het
Nlrc3 T G 16: 3,781,769 (GRCm39) N563H probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10g6 T C 9: 39,934,574 (GRCm39) M295T possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or4a79 A G 2: 89,551,870 (GRCm39) L195P probably damaging Het
Or52u1 C A 7: 104,237,067 (GRCm39) P36T probably damaging Het
Pdgfd C A 9: 6,337,271 (GRCm39) T195K probably null Het
Ptprz1 C A 6: 22,999,979 (GRCm39) Q690K probably benign Het
Scfd1 T A 12: 51,430,903 (GRCm39) M23K probably damaging Het
Scn10a G A 9: 119,438,260 (GRCm39) R1869C probably damaging Het
Scp2 T C 4: 107,931,639 (GRCm39) probably null Het
Sec61a1 A G 6: 88,483,829 (GRCm39) V354A probably benign Het
Sgpp1 T C 12: 75,769,431 (GRCm39) I246V probably benign Het
Slco2a1 G T 9: 102,947,450 (GRCm39) D250Y probably damaging Het
Slit2 A G 5: 48,460,273 (GRCm39) N1435D probably benign Het
Sspo A G 6: 48,425,449 (GRCm39) I23M probably benign Het
Steap4 A T 5: 8,026,858 (GRCm39) T274S probably damaging Het
Tbc1d22b T C 17: 29,787,572 (GRCm39) L107P possibly damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tmem45a2 T A 16: 56,867,375 (GRCm39) I109F probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Tox T A 4: 6,842,396 (GRCm39) T45S probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Wdr7 G A 18: 63,872,250 (GRCm39) D395N probably damaging Het
Other mutations in Ctif
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Ctif APN 18 75,570,247 (GRCm39) missense possibly damaging 0.95
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
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
Posted On 2013-11-18