Incidental Mutation 'R3958:Celf4'
| ID |
310820 |
| 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 |
040834-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3958 (G1)
|
| Quality Score |
180 |
|
Status
|
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: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Actl9 |
A |
G |
17: 33,652,738 (GRCm39) |
K266R |
probably benign |
Het |
| Cebpd |
T |
C |
16: 15,705,327 (GRCm39) |
S47P |
possibly damaging |
Het |
| Ckap4 |
C |
T |
10: 84,364,028 (GRCm39) |
R345H |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,611 (GRCm39) |
V183A |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
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 |
| Glyat |
A |
T |
19: 12,617,197 (GRCm39) |
K16N |
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,206,120 (GRCm39) |
|
noncoding transcript |
Het |
| Grin1 |
G |
A |
2: 25,203,465 (GRCm39) |
T182M |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,751,331 (GRCm39) |
V319A |
unknown |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Hoxd8 |
C |
T |
2: 74,536,884 (GRCm39) |
Q18* |
probably null |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,753,430 (GRCm39) |
T141M |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,153,641 (GRCm39) |
E2428G |
probably damaging |
Het |
| Nepn |
T |
C |
10: 52,276,804 (GRCm39) |
V119A |
probably benign |
Het |
| Or4k41 |
G |
T |
2: 111,280,230 (GRCm39) |
L248F |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,786 (GRCm39) |
D1048G |
probably damaging |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,546,583 (GRCm39) |
V305D |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
| Prmt8 |
G |
A |
6: 127,709,707 (GRCm39) |
T51I |
probably benign |
Het |
| Rgl3 |
T |
C |
9: 21,886,885 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Selp |
T |
C |
1: 163,953,855 (GRCm39) |
S52P |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,837 (GRCm39) |
I615T |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,720,183 (GRCm39) |
Y118C |
probably damaging |
Het |
| Tmem106b |
A |
T |
6: 13,081,587 (GRCm39) |
N165Y |
probably damaging |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,625,852 (GRCm39) |
I110V |
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 |
|
|
R2442:Celf4
|
UTSW |
18 |
25,886,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTAGCCTTCAGTTCTGAGAGGG -3'
(R):5'- CACGAAATACTGGGCTGTGG -3'
Sequencing Primer
(F):5'- CCTTCAGTTCTGAGAGGGAGCAG -3'
(R):5'- GCACTTGCGAACTTTAGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation