Incidental Mutation 'R1226:Ctif'
ID 152257
Institutional Source Beutler Lab
Gene Symbol Ctif
Ensembl Gene ENSMUSG00000052928
Gene Name CBP80/20-dependent translation initiation factor
Synonyms LOC269037, Gm672
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R1226 (G1)
Quality Score 114
Status Not validated
Chromosome 18
Chromosomal Location 75564295-75830625 bp(-) (GRCm39)
Type of Mutation small deletion (3 aa in frame mutation)
DNA Base Change (assembly) CTGTGTCCGGTGT to CTGT at 75654650 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181913
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q 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
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
Predicted Primers PCR Primer
(F):5'- AAAGGCAATTACCCGGTCCTTTTCC -3'
(R):5'- AACAGCATGGTGACCATCAGCCAG -3'

Sequencing Primer
(F):5'- TCAGCCTTCGCCTCAGC -3'
(R):5'- CACCAGAAATCTTACCAGGGGG -3'
Posted On 2014-01-29