Incidental Mutation 'R3499:Ctif'
| ID |
273728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctif
|
| Ensembl Gene |
ENSMUSG00000052928 |
| Gene Name |
CBP80/20-dependent translation initiation factor |
| Synonyms |
LOC269037, Gm672 |
| MMRRC Submission |
040662-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R3499 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
75564295-75830625 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75744828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 92
(L92Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165559]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165559
AA Change: L92Q
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129974
Gene: ENSMUSG00000052928
AA Change: L92Q
| 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 |
0.1006 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
100% (46/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430571L13Rik |
A |
T |
9: 107,219,678 (GRCm39) |
T44S |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
C |
A |
12: 117,874,758 (GRCm39) |
D4036Y |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
G |
C |
6: 73,009,616 (GRCm39) |
A3725G |
probably benign |
Het |
| Ebag9 |
A |
G |
15: 44,493,528 (GRCm39) |
N117D |
probably benign |
Het |
| Elf4 |
C |
T |
X: 47,507,942 (GRCm39) |
E158K |
probably benign |
Het |
| Ephb6 |
C |
T |
6: 41,593,093 (GRCm39) |
R444* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,980 (GRCm39) |
I1648K |
probably benign |
Het |
| Fndc1 |
C |
T |
17: 7,972,416 (GRCm39) |
M1505I |
possibly damaging |
Het |
| Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,978,815 (GRCm39) |
D195G |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Ksr2 |
C |
A |
5: 117,827,640 (GRCm39) |
T473K |
probably damaging |
Het |
| Kxd1 |
T |
C |
8: 70,966,632 (GRCm39) |
|
probably null |
Het |
| Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,421,098 (GRCm39) |
L52* |
probably null |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,661 (GRCm39) |
S25P |
probably benign |
Het |
| Nucb1 |
T |
C |
7: 45,148,300 (GRCm39) |
H171R |
probably benign |
Het |
| Or10d1c |
A |
G |
9: 38,893,761 (GRCm39) |
L193P |
probably damaging |
Het |
| Or4a15 |
A |
T |
2: 89,193,294 (GRCm39) |
F160I |
probably benign |
Het |
| Or56b35 |
G |
A |
7: 104,963,607 (GRCm39) |
C132Y |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,373 (GRCm39) |
F168L |
possibly damaging |
Het |
| Or8k18 |
A |
G |
2: 86,085,185 (GRCm39) |
M284T |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,585,889 (GRCm39) |
I2476F |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
| Ralgapa1 |
T |
G |
12: 55,741,928 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc28a3 |
C |
T |
13: 58,721,253 (GRCm39) |
|
probably benign |
Het |
| Slc44a4 |
A |
G |
17: 35,140,656 (GRCm39) |
D283G |
probably benign |
Het |
| Slc6a9 |
A |
G |
4: 117,714,000 (GRCm39) |
I105V |
probably benign |
Het |
| Smgc |
A |
G |
15: 91,726,206 (GRCm39) |
T51A |
possibly damaging |
Het |
| Smyd5 |
T |
A |
6: 85,415,172 (GRCm39) |
L60H |
probably damaging |
Het |
| Spred1 |
A |
T |
2: 117,005,867 (GRCm39) |
M210L |
probably benign |
Het |
| Syne2 |
G |
A |
12: 76,101,752 (GRCm39) |
|
probably null |
Het |
| Tab3 |
T |
C |
X: 84,658,727 (GRCm39) |
I418T |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,884,478 (GRCm39) |
E343V |
possibly damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,897 (GRCm39) |
I485N |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,330,894 (GRCm39) |
Y51* |
probably null |
Het |
| Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
| Trip11 |
A |
G |
12: 101,859,953 (GRCm39) |
I307T |
possibly damaging |
Het |
| Ttf1 |
T |
C |
2: 28,955,499 (GRCm39) |
S288P |
possibly damaging |
Het |
| Zfp395 |
G |
T |
14: 65,628,742 (GRCm39) |
R198L |
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 |
|
|
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'- TCCCACTATAGCCATGTGCC -3'
(R):5'- TCCACAGTGTCCTCCTGATG -3'
Sequencing Primer
(F):5'- ACTATAGCCATGTGCCCCTTC -3'
(R):5'- GCTACAATATTCCTTTAGGTGGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation