Incidental Mutation 'R2442:Celf4'
| ID |
249846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celf4
|
| Ensembl Gene |
ENSMUSG00000024268 |
| Gene Name |
CUGBP, Elav-like family member 4 |
| Synonyms |
C130060B05Rik, A230070D14Rik, BRUNOL-4, Brunol4, Brul4 |
| MMRRC Submission |
040400-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2442 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
25610689-25887214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25886516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 57
(F57L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025117]
[ENSMUST00000115816]
[ENSMUST00000223704]
[ENSMUST00000224553]
[ENSMUST00000225477]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025117
AA Change: F57L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025117
Gene: ENSMUSG00000024268
AA Change: F57L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
55 |
131 |
2.94e-21 |
SMART |
|
RRM
|
152 |
227 |
3.56e-20 |
SMART |
|
low complexity region
|
237 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
412 |
N/A |
INTRINSIC |
|
RRM
|
420 |
473 |
5.29e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115816
AA Change: F57L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111483
Gene: ENSMUSG00000024268
AA Change: F57L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
55 |
131 |
2.94e-21 |
SMART |
|
RRM
|
152 |
227 |
3.56e-20 |
SMART |
|
low complexity region
|
237 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
412 |
N/A |
INTRINSIC |
|
RRM
|
420 |
493 |
5.88e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223704
AA Change: F57L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224143
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224553
AA Change: F57L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225477
AA Change: F57L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225927
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, shortened life span dependent on genetic background, and seizures. Mice heterozygous for a null allele exhibit complex seizures and abnormal body weights depending on age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,547,606 (GRCm39) |
V256A |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,780,317 (GRCm39) |
N42S |
possibly damaging |
Het |
| Apoo-ps |
C |
A |
13: 107,551,140 (GRCm39) |
|
noncoding transcript |
Het |
| Bri3 |
C |
T |
5: 144,181,411 (GRCm39) |
T39I |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,984,119 (GRCm39) |
S3312P |
unknown |
Het |
| Camkmt |
C |
A |
17: 85,398,203 (GRCm39) |
A17E |
possibly damaging |
Het |
| Cc2d2a |
G |
T |
5: 43,828,647 (GRCm39) |
|
probably null |
Het |
| Ccdc122 |
G |
T |
14: 77,329,398 (GRCm39) |
M150I |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,957,759 (GRCm39) |
F564Y |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,849,840 (GRCm39) |
D38G |
probably damaging |
Het |
| Cts7 |
C |
A |
13: 61,503,431 (GRCm39) |
G178* |
probably null |
Het |
| Dcc |
A |
T |
18: 71,589,954 (GRCm39) |
Y681N |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,083,508 (GRCm39) |
E521G |
possibly damaging |
Het |
| Dnase2a |
T |
C |
8: 85,635,622 (GRCm39) |
V35A |
probably damaging |
Het |
| Eif3l |
A |
G |
15: 78,969,807 (GRCm39) |
M268V |
probably damaging |
Het |
| Foxc1 |
A |
G |
13: 31,992,781 (GRCm39) |
M531V |
unknown |
Het |
| Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
| Ifit1bl1 |
G |
A |
19: 34,572,289 (GRCm39) |
A56V |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,666,865 (GRCm39) |
E524G |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,304,091 (GRCm39) |
I154V |
possibly damaging |
Het |
| Kdm1b |
T |
A |
13: 47,216,451 (GRCm39) |
Y274N |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,948,922 (GRCm39) |
L1889Q |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,075,312 (GRCm39) |
T1010A |
probably benign |
Het |
| Mmp11 |
T |
C |
10: 75,763,079 (GRCm39) |
N171S |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,417,730 (GRCm39) |
E1409G |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,588,668 (GRCm39) |
I90T |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,685 (GRCm39) |
V137A |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,792,302 (GRCm39) |
S342P |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,629,847 (GRCm39) |
E627G |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,284,469 (GRCm39) |
I289T |
probably damaging |
Het |
| Srpra |
G |
A |
9: 35,123,297 (GRCm39) |
G43S |
possibly damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,892,705 (GRCm39) |
M1T |
probably null |
Het |
| Tcte2 |
A |
T |
17: 13,934,339 (GRCm39) |
I90N |
possibly damaging |
Het |
| Trim30c |
G |
A |
7: 104,031,481 (GRCm39) |
P445S |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,754,776 (GRCm39) |
Q1984R |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,467,940 (GRCm39) |
S885P |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,989,417 (GRCm39) |
F17S |
probably damaging |
Het |
| Uts2b |
C |
T |
16: 27,179,782 (GRCm39) |
V75I |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,793 (GRCm39) |
K57E |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably damaging |
Het |
|
| Other mutations in Celf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Celf4
|
APN |
18 |
25,620,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Celf4
|
APN |
18 |
25,630,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02353:Celf4
|
APN |
18 |
25,619,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02360:Celf4
|
APN |
18 |
25,619,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02614:Celf4
|
APN |
18 |
25,637,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03183:Celf4
|
APN |
18 |
25,670,797 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03183:Celf4
|
APN |
18 |
25,670,796 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1141:Celf4
|
UTSW |
18 |
25,637,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1448:Celf4
|
UTSW |
18 |
25,636,140 (GRCm39) |
splice site |
probably null |
|
|
R3958:Celf4
|
UTSW |
18 |
25,670,811 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3959:Celf4
|
UTSW |
18 |
25,670,811 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3960:Celf4
|
UTSW |
18 |
25,670,811 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4256:Celf4
|
UTSW |
18 |
25,624,258 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4650:Celf4
|
UTSW |
18 |
25,629,302 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6521:Celf4
|
UTSW |
18 |
25,612,531 (GRCm39) |
splice site |
probably null |
|
|
R6945:Celf4
|
UTSW |
18 |
25,629,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Celf4
|
UTSW |
18 |
25,619,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7834:Celf4
|
UTSW |
18 |
25,886,542 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8000:Celf4
|
UTSW |
18 |
25,637,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8403:Celf4
|
UTSW |
18 |
25,637,327 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9087:Celf4
|
UTSW |
18 |
25,637,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Celf4
|
UTSW |
18 |
25,624,219 (GRCm39) |
missense |
probably benign |
0.13 |
|
RF048:Celf4
|
UTSW |
18 |
25,634,378 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Celf4
|
UTSW |
18 |
25,629,306 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCCACAGCCCTGTTTTC -3'
(R):5'- CTCTATGTATATAAAGATGGCCACG -3'
Sequencing Primer
(F):5'- TTGTCCCGGCGAACATC -3'
(R):5'- GATGGCCACGTTAGCAAAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation