Incidental Mutation 'IGL02319:Ctif'
ID |
288181 |
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)
|
Stock # |
IGL02319
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
75564295-75830625 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 75654944 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
Domain | Start | End | E-Value | Type |
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 |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
T |
C |
10: 106,784,611 (GRCm39) |
Y537C |
probably damaging |
Het |
Ambra1 |
A |
G |
2: 91,717,265 (GRCm39) |
H854R |
probably damaging |
Het |
Atf7ip |
A |
G |
6: 136,570,116 (GRCm39) |
N981S |
probably benign |
Het |
Atp6v1d |
A |
G |
12: 78,908,230 (GRCm39) |
S2P |
probably damaging |
Het |
Cd59a |
A |
T |
2: 103,944,373 (GRCm39) |
I74F |
possibly damaging |
Het |
Chek2 |
T |
C |
5: 111,014,877 (GRCm39) |
Y449H |
possibly damaging |
Het |
Dnaaf3 |
T |
C |
7: 4,526,946 (GRCm39) |
E403G |
probably damaging |
Het |
Dock1 |
T |
G |
7: 134,374,178 (GRCm39) |
V608G |
possibly damaging |
Het |
Fcf1 |
T |
C |
12: 85,017,982 (GRCm39) |
|
probably null |
Het |
Fgf17 |
T |
G |
14: 70,874,183 (GRCm39) |
Q202P |
possibly damaging |
Het |
Hnrnpm |
A |
T |
17: 33,868,924 (GRCm39) |
L501Q |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
Klra6 |
A |
T |
6: 130,002,177 (GRCm39) |
S2R |
probably damaging |
Het |
Krtap19-9b |
T |
A |
16: 88,729,002 (GRCm39) |
Y33F |
unknown |
Het |
Lpcat4 |
G |
A |
2: 112,074,229 (GRCm39) |
V264M |
probably damaging |
Het |
Lyzl6 |
T |
C |
11: 103,525,862 (GRCm39) |
Y86C |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,939,005 (GRCm39) |
K1669E |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,893,159 (GRCm39) |
V1558A |
probably damaging |
Het |
Or51a42 |
A |
G |
7: 103,708,140 (GRCm39) |
I223T |
probably damaging |
Het |
Or51l14 |
G |
A |
7: 103,101,474 (GRCm39) |
C310Y |
probably benign |
Het |
Or5b105 |
A |
G |
19: 13,080,026 (GRCm39) |
I214T |
probably benign |
Het |
Or8b47 |
T |
A |
9: 38,435,166 (GRCm39) |
I46N |
probably damaging |
Het |
Pex11b |
T |
C |
3: 96,550,885 (GRCm39) |
|
probably benign |
Het |
Rbm5 |
A |
T |
9: 107,621,064 (GRCm39) |
L689* |
probably null |
Het |
Rd3 |
G |
T |
1: 191,715,452 (GRCm39) |
G76C |
probably null |
Het |
Rgs16 |
A |
T |
1: 153,617,852 (GRCm39) |
I121F |
probably damaging |
Het |
Tmem30a |
A |
T |
9: 79,681,485 (GRCm39) |
M264K |
probably damaging |
Het |
Traf2 |
T |
C |
2: 25,426,695 (GRCm39) |
E127G |
probably damaging |
Het |
Trmt11 |
A |
T |
10: 30,436,869 (GRCm39) |
D290E |
probably damaging |
Het |
Wdr35 |
C |
A |
12: 9,077,480 (GRCm39) |
|
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,214,914 (GRCm39) |
S1211P |
possibly damaging |
Het |
|
Other mutations in Ctif |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2015-04-16 |