Incidental Mutation 'R4560:Ctif'
ID |
343070 |
Institutional Source |
Beutler Lab
|
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 # |
R4560 (G1)
|
Quality Score |
215 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
75564295-75830625 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75652952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 435
(L435Q)
|
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: L435Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000129974 Gene: ENSMUSG00000052928 AA Change: L435Q
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
A |
C |
14: 56,016,407 (GRCm39) |
|
probably null |
Het |
Atp8b1 |
A |
T |
18: 64,689,950 (GRCm39) |
L594* |
probably null |
Het |
Atp8b1 |
C |
T |
18: 64,701,318 (GRCm39) |
V347I |
probably benign |
Het |
Axin1 |
A |
G |
17: 26,392,745 (GRCm39) |
D342G |
probably damaging |
Het |
Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
Capn10 |
T |
C |
1: 92,867,084 (GRCm39) |
Y105H |
probably damaging |
Het |
Ccdc89 |
T |
G |
7: 90,076,336 (GRCm39) |
L182R |
probably damaging |
Het |
Cdk5rap2 |
A |
G |
4: 70,233,568 (GRCm39) |
F537S |
probably benign |
Het |
Cidec |
A |
T |
6: 113,405,399 (GRCm39) |
M118K |
probably damaging |
Het |
Cog8 |
A |
T |
8: 107,778,843 (GRCm39) |
|
probably null |
Het |
Dhx9 |
A |
G |
1: 153,342,903 (GRCm39) |
V533A |
probably damaging |
Het |
Drc1 |
T |
A |
5: 30,520,441 (GRCm39) |
M594K |
probably benign |
Het |
Dthd1 |
C |
T |
5: 62,984,435 (GRCm39) |
T380I |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,156,777 (GRCm39) |
S3475P |
possibly damaging |
Het |
G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
Hcrtr2 |
A |
G |
9: 76,161,970 (GRCm39) |
V140A |
probably damaging |
Het |
Ikbke |
C |
T |
1: 131,199,857 (GRCm39) |
C243Y |
probably damaging |
Het |
Il21 |
C |
A |
3: 37,279,633 (GRCm39) |
E128* |
probably null |
Het |
Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
Me3 |
G |
T |
7: 89,498,938 (GRCm39) |
R506L |
probably benign |
Het |
Mtf2 |
T |
A |
5: 108,234,855 (GRCm39) |
|
probably null |
Het |
Nbas |
A |
G |
12: 13,633,528 (GRCm39) |
N2311S |
probably benign |
Het |
Nomo1 |
G |
T |
7: 45,690,904 (GRCm39) |
V97L |
probably damaging |
Het |
Pcdhb11 |
G |
A |
18: 37,556,787 (GRCm39) |
V706I |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,282,082 (GRCm39) |
R2920C |
probably damaging |
Het |
Prox2 |
T |
C |
12: 85,141,817 (GRCm39) |
T129A |
probably benign |
Het |
Rgs18 |
T |
G |
1: 144,631,720 (GRCm39) |
I131L |
probably benign |
Het |
Rnf19b |
G |
T |
4: 128,965,616 (GRCm39) |
C57F |
probably damaging |
Het |
Rpl11 |
T |
C |
4: 135,778,522 (GRCm39) |
Y122C |
probably damaging |
Het |
Sarnp |
A |
G |
10: 128,682,412 (GRCm39) |
K5R |
probably damaging |
Het |
Scg2 |
A |
T |
1: 79,412,898 (GRCm39) |
H568Q |
probably damaging |
Het |
Septin10 |
T |
C |
10: 59,019,417 (GRCm39) |
Y150C |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
Smco2 |
T |
A |
6: 146,772,674 (GRCm39) |
V292D |
possibly damaging |
Het |
Smok3c |
A |
G |
5: 138,062,746 (GRCm39) |
M78V |
probably benign |
Het |
Spag16 |
C |
A |
1: 69,883,455 (GRCm39) |
F61L |
probably benign |
Het |
Spata22 |
G |
A |
11: 73,236,585 (GRCm39) |
R297H |
probably damaging |
Het |
Spata31d1e |
A |
G |
13: 59,889,571 (GRCm39) |
S750P |
probably damaging |
Het |
Syt3 |
C |
A |
7: 44,045,368 (GRCm39) |
P536Q |
probably benign |
Het |
Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
Trim9 |
A |
C |
12: 70,393,892 (GRCm39) |
Y17* |
probably null |
Het |
Tsga10 |
A |
G |
1: 37,846,163 (GRCm39) |
M321T |
probably benign |
Het |
Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
Ubxn1 |
C |
T |
19: 8,851,588 (GRCm39) |
T207I |
probably benign |
Het |
Vmn2r117 |
A |
T |
17: 23,678,851 (GRCm39) |
V791D |
probably damaging |
Het |
Vps54 |
C |
G |
11: 21,262,260 (GRCm39) |
C785W |
possibly damaging |
Het |
Zfp616 |
A |
G |
11: 73,973,860 (GRCm39) |
D43G |
probably benign |
Het |
Zfp952 |
A |
G |
17: 33,222,928 (GRCm39) |
H469R |
probably benign |
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 |
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 |
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'- GCAATAACCCTCGTCGTCAG -3'
(R):5'- TCCCGAATCCCACTGAGACTTC -3'
Sequencing Primer
(F):5'- TCGTCGTCAGTCGGAGG -3'
(R):5'- GTGTTTTATGTGTCCCCCATG -3'
|
Posted On |
2015-09-24 |