Incidental Mutation 'R7115:Ctif'
| ID |
551746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctif
|
| Ensembl Gene |
ENSMUSG00000052928 |
| Gene Name |
CBP80/20-dependent translation initiation factor |
| Synonyms |
LOC269037, Gm672 |
| MMRRC Submission |
045206-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R7115 (G1)
|
| Quality Score |
132.491 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
75564295-75830625 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC to CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC
at 75604874 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,255,589 (GRCm39) |
I636N |
probably benign |
Het |
| Adam5 |
A |
G |
8: 25,271,712 (GRCm39) |
I565T |
possibly damaging |
Het |
| Amd2 |
C |
A |
10: 35,587,633 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,323,727 (GRCm39) |
Y472* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,024 (GRCm39) |
F97S |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,208,446 (GRCm39) |
K267R |
|
Het |
| Carf |
G |
T |
1: 60,187,309 (GRCm39) |
L637F |
probably damaging |
Het |
| Ccdc103 |
A |
T |
11: 102,774,636 (GRCm39) |
S95C |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,147,874 (GRCm39) |
I156V |
probably benign |
Het |
| Csn1s2a |
T |
C |
5: 87,929,664 (GRCm39) |
C96R |
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,457,310 (GRCm39) |
S1119A |
|
Het |
| Dennd2a |
G |
A |
6: 39,483,645 (GRCm39) |
T405M |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,493,961 (GRCm39) |
Y1248H |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,547,710 (GRCm39) |
K2504N |
probably damaging |
Het |
| Dnajb2 |
G |
A |
1: 75,220,306 (GRCm39) |
G275D |
|
Het |
| Elf3 |
T |
G |
1: 135,184,856 (GRCm39) |
D110A |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,313,557 (GRCm39) |
N534S |
probably benign |
Het |
| Fry |
A |
T |
5: 150,309,532 (GRCm39) |
R659W |
probably damaging |
Het |
| Gm10428 |
G |
A |
11: 62,644,206 (GRCm39) |
C94Y |
unknown |
Het |
| Gm2696 |
T |
A |
10: 77,672,133 (GRCm39) |
C111S |
unknown |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,888,247 (GRCm39) |
N2338Y |
|
Het |
| Map2k1 |
A |
G |
9: 64,119,888 (GRCm39) |
I139T |
probably damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,598,003 (GRCm39) |
Y79C |
probably benign |
Het |
| Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,707,063 (GRCm39) |
T373I |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,560,147 (GRCm39) |
N484S |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,108,986 (GRCm39) |
V293A |
probably benign |
Het |
| Ring1 |
A |
G |
17: 34,242,420 (GRCm39) |
I29T |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,154,962 (GRCm39) |
Q666* |
probably null |
Het |
| Spice1 |
G |
A |
16: 44,199,638 (GRCm39) |
G697R |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,934,567 (GRCm39) |
F81L |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 36,054,644 (GRCm39) |
S572L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,569,977 (GRCm39) |
T128A |
probably benign |
Het |
| Trim56 |
T |
A |
5: 137,142,514 (GRCm39) |
Q334L |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,370,527 (GRCm39) |
R840* |
probably null |
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 |
|
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 |
|
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'- CTTATTTCTTAAGGCATGGGGAAG -3'
(R):5'- CCTCCACAGAAGGACTTCACTG -3'
Sequencing Primer
(F):5'- CTTAAGGCATGGGGAAGTCATTC -3'
(R):5'- AAGGACTTCACTGTGCGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation