Incidental Mutation 'R3960:Celf4'
| ID |
312070 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3960 (G1)
|
| Quality Score |
180 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
25610689-25887214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25670811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 124
(M124T)
|
| 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 benign
Transcript: ENSMUST00000025117
AA Change: M124T
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025117
Gene: ENSMUSG00000024268
AA Change: M124T
| 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 benign
Transcript: ENSMUST00000115816
AA Change: M124T
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000111483
Gene: ENSMUSG00000024268
AA Change: M124T
| 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 benign
Transcript: ENSMUST00000223704
AA Change: M124T
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224553
AA Change: M124T
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225477
AA Change: M124T
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225927
|
| Meta Mutation Damage Score |
0.3550 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Hao1 |
A |
C |
2: 134,364,903 (GRCm39) |
|
probably null |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Ildr2 |
T |
A |
1: 166,136,909 (GRCm39) |
W564R |
probably damaging |
Het |
| Impg1 |
G |
T |
9: 80,322,917 (GRCm39) |
F29L |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,714,347 (GRCm39) |
V834A |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,131,262 (GRCm39) |
N1948D |
probably damaging |
Het |
| Katnb1 |
T |
C |
8: 95,813,925 (GRCm39) |
V17A |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,380,018 (GRCm39) |
N925D |
probably benign |
Het |
| Oasl2 |
T |
C |
5: 115,043,098 (GRCm39) |
V70A |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,749 (GRCm39) |
H21R |
probably benign |
Het |
| Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Smarcd2 |
A |
G |
11: 106,157,401 (GRCm39) |
S182P |
probably damaging |
Het |
| Tbrg4 |
A |
G |
11: 6,568,077 (GRCm39) |
S484P |
probably benign |
Het |
| Tprkb |
A |
G |
6: 85,905,783 (GRCm39) |
E156G |
probably benign |
Het |
| Zfp647 |
A |
G |
15: 76,795,176 (GRCm39) |
|
probably null |
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 |
|
|
R2442:Celf4
|
UTSW |
18 |
25,886,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CTAGCCTTCAGTTCTGAGAGGGAG -3'
(R):5'- CACGAAATACTGGGCTGTGG -3'
Sequencing Primer
(F):5'- TTCTGAGAGGGAGCAGCAAG -3'
(R):5'- GCACTTGCGAACTTTAGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation