Incidental Mutation 'IGL00987:Celf4'
| ID |
29474 |
| 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 # |
IGL00987
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
25610689-25887214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25620007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 420
(D420G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153258
(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: D459G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025117
Gene: ENSMUSG00000024268
AA Change: D459G
| 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: D468G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111483
Gene: ENSMUSG00000024268
AA Change: D468G
| 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: D449G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224028
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224553
AA Change: D420G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225477
AA Change: D448G
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
T |
C |
X: 154,078,177 (GRCm39) |
I241T |
probably benign |
Het |
| Atp5mc3 |
T |
A |
2: 73,740,270 (GRCm39) |
R19* |
probably null |
Het |
| Cideb |
C |
A |
14: 55,992,017 (GRCm39) |
R179L |
possibly damaging |
Het |
| Cmtr1 |
G |
A |
17: 29,916,143 (GRCm39) |
R591H |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,169,130 (GRCm39) |
S34T |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,390,389 (GRCm39) |
Y80H |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,401 (GRCm39) |
E304G |
probably damaging |
Het |
| Fam135a |
A |
C |
1: 24,094,979 (GRCm39) |
L130V |
probably damaging |
Het |
| Fancb |
A |
T |
X: 163,774,594 (GRCm39) |
K410N |
probably damaging |
Het |
| Gabpb2 |
A |
C |
3: 95,107,502 (GRCm39) |
V191G |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,345,893 (GRCm39) |
H197R |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,365 (GRCm39) |
V105A |
unknown |
Het |
| Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,315,334 (GRCm39) |
V1139L |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,901,183 (GRCm39) |
F190L |
probably damaging |
Het |
| Krt87 |
G |
A |
15: 101,336,327 (GRCm39) |
H109Y |
probably benign |
Het |
| Lmf2 |
T |
C |
15: 89,238,771 (GRCm39) |
Y115C |
probably benign |
Het |
| Papolg |
T |
A |
11: 23,826,377 (GRCm39) |
Y259F |
possibly damaging |
Het |
| Parn |
T |
C |
16: 13,485,467 (GRCm39) |
I10V |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,102,989 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,583,465 (GRCm39) |
Q1003L |
possibly damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,701 (GRCm39) |
L317P |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,634,620 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
G |
A |
4: 154,426,426 (GRCm39) |
T453M |
possibly damaging |
Het |
| Rnf144b |
A |
T |
13: 47,360,969 (GRCm39) |
E36D |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,750,388 (GRCm39) |
T1961I |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,627,177 (GRCm39) |
K305I |
probably damaging |
Het |
| Tbc1d7 |
A |
T |
13: 43,312,797 (GRCm39) |
I32N |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,917,529 (GRCm39) |
F623L |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,541,016 (GRCm39) |
G297R |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,551,297 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,649 (GRCm39) |
N151D |
probably damaging |
Het |
|
| Other mutations in Celf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation