Incidental Mutation 'R4168:Ctif'
| ID |
320675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctif
|
| Ensembl Gene |
ENSMUSG00000052928 |
| Gene Name |
CBP80/20-dependent translation initiation factor |
| Synonyms |
LOC269037, Gm672 |
| MMRRC Submission |
041009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
75564295-75830625 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 75770286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 33
(L33R)
|
| 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: L33R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129974
Gene: ENSMUSG00000052928
AA Change: L33R
| 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 |
|
| Meta Mutation Damage Score |
0.2641 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (39/40) |
| 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 |
|---|
| C3 |
A |
T |
17: 57,525,608 (GRCm39) |
F883I |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,944,555 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Chpf2 |
T |
C |
5: 24,796,788 (GRCm39) |
V578A |
possibly damaging |
Het |
| Clasrp |
A |
G |
7: 19,315,079 (GRCm39) |
|
probably benign |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,538,507 (GRCm39) |
H54L |
possibly damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,534 (GRCm39) |
L151P |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,847,159 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Haspin |
A |
G |
11: 73,026,848 (GRCm39) |
L747P |
probably damaging |
Het |
| Intu |
C |
T |
3: 40,627,053 (GRCm39) |
P278L |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,493,562 (GRCm39) |
I127T |
probably benign |
Het |
| Mogat1 |
T |
C |
1: 78,488,672 (GRCm39) |
V25A |
possibly damaging |
Het |
| Nop14 |
A |
G |
5: 34,814,088 (GRCm39) |
S157P |
probably damaging |
Het |
| Or5al6 |
A |
G |
2: 85,976,523 (GRCm39) |
I185T |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5k3 |
A |
T |
16: 58,969,363 (GRCm39) |
Y50F |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,478 (GRCm39) |
L466P |
probably damaging |
Het |
| Padi6 |
A |
G |
4: 140,469,245 (GRCm39) |
C32R |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,327,958 (GRCm39) |
Y501* |
probably null |
Het |
| Rb1cc1 |
G |
A |
1: 6,300,248 (GRCm39) |
V8I |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,684,673 (GRCm39) |
I261V |
probably benign |
Het |
| Tmem119 |
T |
C |
5: 113,933,048 (GRCm39) |
E251G |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,069 (GRCm39) |
M249K |
probably benign |
Het |
| Zc2hc1a |
A |
G |
3: 7,583,451 (GRCm39) |
T41A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,840,945 (GRCm39) |
V173A |
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 |
|
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 |
|
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'- GTGAGATCACCAATACTGAGATCAC -3'
(R):5'- TCTCAAGTGGGGCATTGTCC -3'
Sequencing Primer
(F):5'- CTGAGATCACAGTAGCGTGAG -3'
(R):5'- GGCATTGTCCTGGCCTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation