Incidental Mutation 'IGL02353:Celf4'
ID289563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Celf4
Ensembl Gene ENSMUSG00000024268
Gene NameCUGBP, Elav-like family member 4
SynonymsBrunol4, Brul4, BRUNOL-4, A230070D14Rik, C130060B05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02353
Quality Score
Status
Chromosome18
Chromosomal Location25477632-25754157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25486898 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik A G 2: 148,783,467 probably benign Het
Aldh18a1 A T 19: 40,577,920 V102D probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Casp6 C T 3: 129,910,526 S87L probably damaging Het
Ccdc121 T C 1: 181,510,625 E254G possibly damaging Het
Ccnl1 A C 3: 65,948,720 C255G probably damaging Het
Cntln A G 4: 85,049,850 R769G probably damaging Het
Cyp2d12 T C 15: 82,558,970 V360A probably benign Het
Dgki T C 6: 36,847,389 E1068G probably damaging Het
Fbxl4 A G 4: 22,433,684 N607S probably benign Het
Fgd4 T C 16: 16,462,045 I383V probably damaging Het
Fgd6 C T 10: 94,138,396 T1333I possibly damaging Het
Got1 A G 19: 43,524,443 S5P probably damaging Het
Herc2 T A 7: 56,114,812 N995K probably damaging Het
Kcnma1 A G 14: 23,591,613 F159S probably damaging Het
Krt83 T C 15: 101,485,458 S456G probably benign Het
Lhb T C 7: 45,421,294 V32A possibly damaging Het
Mau2 A T 8: 70,019,638 V602E probably damaging Het
Mpst C T 15: 78,410,085 L6F probably damaging Het
Nlrp2 G A 7: 5,337,599 T72I probably damaging Het
Olfr44 A G 9: 39,485,148 I32T probably benign Het
Phldb2 T C 16: 45,748,779 Y1239C probably damaging Het
Slc22a8 T C 19: 8,608,255 F328S possibly damaging Het
Spns1 C T 7: 126,375,140 R94Q probably damaging Het
Sult2a3 G A 7: 14,121,650 R94* probably null Het
Syt16 A G 12: 74,129,471 N38S probably damaging Het
Tbc1d1 G A 5: 64,256,836 R180Q probably damaging Het
Ush2a T C 1: 188,728,438 I2632T probably benign Het
Vcam1 T A 3: 116,115,894 I595F possibly damaging Het
Other mutations in Celf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Celf4 APN 18 25486950 missense probably damaging 1.00
IGL01608:Celf4 APN 18 25497503 missense probably damaging 1.00
IGL02360:Celf4 APN 18 25486898 missense probably damaging 1.00
IGL02614:Celf4 APN 18 25504150 missense probably damaging 1.00
IGL03183:Celf4 APN 18 25537739 missense probably benign 0.05
IGL03183:Celf4 APN 18 25537740 missense probably benign 0.22
R1141:Celf4 UTSW 18 25504904 missense probably damaging 0.99
R1448:Celf4 UTSW 18 25503083 splice site probably null
R2442:Celf4 UTSW 18 25753459 missense probably damaging 1.00
R3958:Celf4 UTSW 18 25537754 missense probably benign 0.08
R3959:Celf4 UTSW 18 25537754 missense probably benign 0.08
R3960:Celf4 UTSW 18 25537754 missense probably benign 0.08
R4256:Celf4 UTSW 18 25491201 missense probably damaging 0.97
R4650:Celf4 UTSW 18 25496245 missense possibly damaging 0.79
R6521:Celf4 UTSW 18 25479474 unclassified probably null
R6945:Celf4 UTSW 18 25496236 missense probably damaging 1.00
Z1088:Celf4 UTSW 18 25496249 missense probably benign 0.05
Posted On2015-04-16