Incidental Mutation 'IGL02360:Celf4'
| ID |
290453 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02360
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
25610689-25887214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25619955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 485
(I485M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025117]
[ENSMUST00000115816]
[ENSMUST00000223704]
[ENSMUST00000224553]
[ENSMUST00000225477]
[ENSMUST00000225528]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025117
AA Change: I476M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025117
Gene: ENSMUSG00000024268
AA Change: I476M
| 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: I485M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111483
Gene: ENSMUSG00000024268
AA Change: I485M
| 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 |
unknown
Transcript: ENSMUST00000223704
AA Change: I466M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224553
AA Change: I437M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225477
AA Change: I465M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226091
|
| Coding Region Coverage |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
T |
19: 40,566,364 (GRCm39) |
V102D |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Casp6 |
C |
T |
3: 129,704,175 (GRCm39) |
S87L |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,190 (GRCm39) |
E254G |
possibly damaging |
Het |
| Ccnl1 |
A |
C |
3: 65,856,141 (GRCm39) |
C255G |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,087 (GRCm39) |
R769G |
probably damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,171 (GRCm39) |
V360A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,824,324 (GRCm39) |
E1068G |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,433,684 (GRCm39) |
N607S |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,279,909 (GRCm39) |
I383V |
probably damaging |
Het |
| Fgd6 |
C |
T |
10: 93,974,258 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Got1 |
A |
G |
19: 43,512,882 (GRCm39) |
S5P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,764,560 (GRCm39) |
N995K |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,641,681 (GRCm39) |
F159S |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,383,339 (GRCm39) |
S456G |
probably benign |
Het |
| Lhb |
T |
C |
7: 45,070,718 (GRCm39) |
V32A |
possibly damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,288 (GRCm39) |
V602E |
probably damaging |
Het |
| Mpst |
C |
T |
15: 78,294,285 (GRCm39) |
L6F |
probably damaging |
Het |
| Nlrp2 |
G |
A |
7: 5,340,598 (GRCm39) |
T72I |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,444 (GRCm39) |
I32T |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,569,142 (GRCm39) |
Y1239C |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,619 (GRCm39) |
F328S |
possibly damaging |
Het |
| Sult2a3 |
G |
A |
7: 13,855,575 (GRCm39) |
R94* |
probably null |
Het |
| Syt16 |
A |
G |
12: 74,176,245 (GRCm39) |
N38S |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,414,179 (GRCm39) |
R180Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,460,635 (GRCm39) |
I2632T |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,909,543 (GRCm39) |
I595F |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation