Incidental Mutation 'IGL03183:Celf4'
ID412350
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 #IGL03183
Quality Score
Status
Chromosome18
Chromosomal Location25477632-25754157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 25537739 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 129 (Q129L)
Ref Sequence ENSEMBL: ENSMUSP00000153226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025117] [ENSMUST00000115816] [ENSMUST00000223704] [ENSMUST00000224553] [ENSMUST00000225477]
Predicted Effect probably benign
Transcript: ENSMUST00000025117
AA Change: Q129L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000025117
Gene: ENSMUSG00000024268
AA Change: Q129L

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 benign
Transcript: ENSMUST00000115816
AA Change: Q129L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000111483
Gene: ENSMUSG00000024268
AA Change: Q129L

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 probably benign
Transcript: ENSMUST00000223704
AA Change: Q129L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000224553
AA Change: Q129L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000225477
AA Change: Q129L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225927
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh6a1 A G 12: 84,436,440 probably null Het
Ano2 A T 6: 125,710,629 K32N probably benign Het
Asic1 A G 15: 99,672,017 H73R probably benign Het
B3glct A G 5: 149,754,142 D412G probably damaging Het
Baz2b T C 2: 59,903,296 I1891V probably benign Het
Cc2d2a A G 5: 43,732,379 E1278G probably damaging Het
Ccdc116 T C 16: 17,142,854 E33G probably benign Het
Col18a1 A G 10: 77,073,754 S817P probably damaging Het
Corin A G 5: 72,301,586 V940A probably damaging Het
Dlgap2 A T 8: 14,727,525 N257Y possibly damaging Het
Dnah2 C A 11: 69,458,488 V2441L possibly damaging Het
Evpl C T 11: 116,221,612 E1751K probably damaging Het
Fam35a T C 14: 34,245,186 T690A probably benign Het
Fat1 G A 8: 44,950,586 E125K probably damaging Het
Fras1 A T 5: 96,733,781 probably benign Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
G3bp2 A C 5: 92,055,046 M362R possibly damaging Het
Grk5 T C 19: 61,069,336 F158S probably damaging Het
Hmbox1 G T 14: 64,887,599 Q188K probably damaging Het
Ift172 A T 5: 31,272,004 D604E probably benign Het
Igkv6-32 T A 6: 70,074,572 T5S probably benign Het
Impa1 A G 3: 10,322,994 Y123H probably damaging Het
Itgb4 C T 11: 115,988,724 T612M probably damaging Het
Med12l T A 3: 59,037,555 probably null Het
Meis2 A G 2: 116,059,521 L160S probably damaging Het
Micu1 C T 10: 59,728,048 R31* probably null Het
Nlrp9a G T 7: 26,557,457 A167S probably damaging Het
Olfr1408 A G 1: 173,130,858 Y120H probably damaging Het
Olfr1425 A T 19: 12,074,028 N201K probably damaging Het
Plpp6 A G 19: 28,964,671 N224S possibly damaging Het
Sdk2 T A 11: 113,850,984 H803L probably benign Het
Slc36a1 T A 11: 55,228,191 Y331N probably damaging Het
Spata31d1c A T 13: 65,035,195 I184F possibly damaging Het
Stat3 T C 11: 100,902,756 I338V possibly damaging Het
Stk10 T A 11: 32,604,143 V610E possibly damaging Het
Syna A G 5: 134,558,290 S602P probably benign Het
Tap2 T A 17: 34,205,425 probably benign Het
Tln1 T C 4: 43,539,084 probably benign Het
Tra2b C A 16: 22,254,553 probably benign Het
Ttc7b T C 12: 100,373,709 probably null Het
Vmn2r121 G A X: 124,132,326 T378I probably benign Het
Wdr1 A T 5: 38,533,482 probably null Het
Wdr66 A G 5: 123,254,619 probably benign 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
IGL02353:Celf4 APN 18 25486898 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 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 splice site probably null
R6945:Celf4 UTSW 18 25496236 missense probably damaging 1.00
R7724:Celf4 UTSW 18 25486793 critical splice donor site probably null
R7834:Celf4 UTSW 18 25753485 missense probably benign 0.04
R8000:Celf4 UTSW 18 25504517 missense probably benign 0.00
R8403:Celf4 UTSW 18 25504270 missense possibly damaging 0.90
RF048:Celf4 UTSW 18 25501321 missense probably benign 0.02
Z1088:Celf4 UTSW 18 25496249 missense probably benign 0.05
Posted On2016-08-02