Incidental Mutation 'R0670:Celf3'
ID 61387
Institutional Source Beutler Lab
Gene Symbol Celf3
Ensembl Gene ENSMUSG00000028137
Gene Name CUGBP, Elav-like family member 3
Synonyms BRUNOL1, Tnrc4, CAGH4, ERDA4, 4930415M08Rik
MMRRC Submission 038855-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R0670 (G1)
Quality Score 107
Status Not validated
Chromosome 3
Chromosomal Location 94385602-94399505 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) ACAGCAGCAGCAGCAGCAGCAGCA to ACAGCAGCAGCAGCAGCAGCA at 94395537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029784] [ENSMUST00000197558] [ENSMUST00000197677] [ENSMUST00000198316] [ENSMUST00000199775] [ENSMUST00000200342] [ENSMUST00000198384] [ENSMUST00000199884]
AlphaFold Q8CIN6
Predicted Effect probably benign
Transcript: ENSMUST00000029784
SMART Domains Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137

DomainStartEndE-ValueType
RRM 8 84 4.32e-19 SMART
RRM 95 170 2.02e-19 SMART
low complexity region 208 220 N/A INTRINSIC
low complexity region 248 275 N/A INTRINSIC
low complexity region 339 373 N/A INTRINSIC
RRM 381 454 8.83e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197033
Predicted Effect probably benign
Transcript: ENSMUST00000197558
SMART Domains Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137

DomainStartEndE-ValueType
RRM 19 94 8.9e-22 SMART
low complexity region 132 144 N/A INTRINSIC
low complexity region 172 199 N/A INTRINSIC
RRM 286 359 3.7e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197677
SMART Domains Protein: ENSMUSP00000143089
Gene: ENSMUSG00000028137

DomainStartEndE-ValueType
RRM 20 95 8.7e-22 SMART
low complexity region 133 145 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197699
Predicted Effect probably benign
Transcript: ENSMUST00000198316
SMART Domains Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137

DomainStartEndE-ValueType
RRM 19 94 8.7e-22 SMART
low complexity region 132 144 N/A INTRINSIC
low complexity region 172 199 N/A INTRINSIC
low complexity region 263 297 N/A INTRINSIC
RRM 305 378 3.6e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199775
SMART Domains Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137

DomainStartEndE-ValueType
RRM 8 84 1.9e-21 SMART
RRM 96 171 8.9e-22 SMART
low complexity region 209 221 N/A INTRINSIC
low complexity region 290 324 N/A INTRINSIC
RRM 332 405 3.7e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200342
SMART Domains Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137

DomainStartEndE-ValueType
RRM 8 84 4.32e-19 SMART
RRM 96 171 2.02e-19 SMART
low complexity region 209 221 N/A INTRINSIC
low complexity region 249 276 N/A INTRINSIC
low complexity region 368 402 N/A INTRINSIC
RRM 410 483 8.83e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198796
Predicted Effect probably benign
Transcript: ENSMUST00000198384
SMART Domains Protein: ENSMUSP00000142542
Gene: ENSMUSG00000028137

DomainStartEndE-ValueType
RRM 20 95 8.7e-22 SMART
low complexity region 133 145 N/A INTRINSIC
low complexity region 173 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199884
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.7%
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 alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Male mice homozygous for a null mutation display reduced sperm counts and motility but are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a A T 2: 154,887,678 (GRCm39) D46V probably damaging Het
Abraxas2 A T 7: 132,470,760 (GRCm39) probably null Het
Afap1l2 G A 19: 56,904,235 (GRCm39) T684I probably damaging Het
Ahcyl1 A T 3: 107,578,481 (GRCm39) V205E probably damaging Het
Ap4e1 T A 2: 126,853,784 (GRCm39) probably null Het
Brms1 C A 19: 5,095,999 (GRCm39) N24K probably damaging Het
Col25a1 A G 3: 130,180,544 (GRCm39) K130E possibly damaging Het
Crisp1 A C 17: 40,616,001 (GRCm39) Y125* probably null Het
Dnhd1 A T 7: 105,345,671 (GRCm39) D2272V possibly damaging Het
Elmod1 A G 9: 53,820,106 (GRCm39) V294A probably damaging Het
Gmfg T A 7: 28,140,953 (GRCm39) I33K probably damaging Het
Gsk3b G T 16: 37,964,678 (GRCm39) D49Y probably damaging Het
H2-T5 G C 17: 36,478,990 (GRCm39) F86L possibly damaging Het
Harbi1 C T 2: 91,542,880 (GRCm39) R114W probably damaging Het
Hspbp1 A G 7: 4,680,735 (GRCm39) V247A probably damaging Het
Kif17 A T 4: 137,989,810 (GRCm39) probably benign Het
Klhl6 T A 16: 19,768,309 (GRCm39) H412L possibly damaging Het
Muc1 A G 3: 89,137,839 (GRCm39) D227G probably benign Het
Nat8f5 A T 6: 85,794,957 (GRCm39) M1K probably null Het
Neb A G 2: 52,146,136 (GRCm39) V2947A possibly damaging Het
Nfrkb A T 9: 31,331,469 (GRCm39) Q1295L probably benign Het
Otop1 T C 5: 38,445,292 (GRCm39) V150A possibly damaging Het
Pcdhb2 A T 18: 37,429,701 (GRCm39) D558V probably damaging Het
Pdilt T C 7: 119,099,651 (GRCm39) K206E probably benign Het
Pkn2 A T 3: 142,545,104 (GRCm39) I23K probably damaging Het
Plec A T 15: 76,090,160 (GRCm39) L60Q probably damaging Het
Ranbp2 C A 10: 58,316,520 (GRCm39) D2413E probably benign Het
Socs1 A G 16: 10,602,126 (GRCm39) Y204H probably damaging Het
Stk39 T C 2: 68,196,526 (GRCm39) D301G possibly damaging Het
Tlr5 T A 1: 182,801,454 (GRCm39) W253R probably damaging Het
Treml2 A G 17: 48,614,864 (GRCm39) probably null Het
Ttn A G 2: 76,579,448 (GRCm39) L22069P probably damaging Het
Vps13c G T 9: 67,833,139 (GRCm39) S1614I probably benign Het
Vrk2 C T 11: 26,436,959 (GRCm39) probably null Het
Xrn1 A G 9: 95,873,109 (GRCm39) Y655C probably damaging Het
Other mutations in Celf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Celf3 APN 3 94,395,535 (GRCm39) missense possibly damaging 0.70
IGL02103:Celf3 APN 3 94,394,108 (GRCm39) missense probably damaging 1.00
IGL03007:Celf3 APN 3 94,394,444 (GRCm39) missense probably benign 0.00
R0180:Celf3 UTSW 3 94,392,647 (GRCm39) missense probably damaging 1.00
R1965:Celf3 UTSW 3 94,392,634 (GRCm39) missense probably damaging 1.00
R2232:Celf3 UTSW 3 94,387,566 (GRCm39) splice site probably null
R2566:Celf3 UTSW 3 94,395,537 (GRCm39) small deletion probably benign
R3546:Celf3 UTSW 3 94,395,845 (GRCm39) missense probably damaging 1.00
R3547:Celf3 UTSW 3 94,395,845 (GRCm39) missense probably damaging 1.00
R3548:Celf3 UTSW 3 94,395,845 (GRCm39) missense probably damaging 1.00
R4015:Celf3 UTSW 3 94,394,505 (GRCm39) missense probably benign 0.02
R4471:Celf3 UTSW 3 94,395,585 (GRCm39) splice site probably null
R4698:Celf3 UTSW 3 94,392,174 (GRCm39) critical splice donor site probably null
R4816:Celf3 UTSW 3 94,386,529 (GRCm39) missense probably damaging 1.00
R4939:Celf3 UTSW 3 94,395,537 (GRCm39) small deletion probably benign
R5851:Celf3 UTSW 3 94,386,433 (GRCm39) missense probably damaging 1.00
R6277:Celf3 UTSW 3 94,392,672 (GRCm39) missense probably damaging 1.00
R6400:Celf3 UTSW 3 94,387,593 (GRCm39) missense probably damaging 1.00
R6986:Celf3 UTSW 3 94,395,024 (GRCm39) missense possibly damaging 0.83
R7357:Celf3 UTSW 3 94,387,637 (GRCm39) missense probably damaging 0.99
R7556:Celf3 UTSW 3 94,387,590 (GRCm39) missense probably damaging 1.00
R8141:Celf3 UTSW 3 94,395,850 (GRCm39) missense probably damaging 1.00
R8290:Celf3 UTSW 3 94,386,489 (GRCm39) missense probably benign 0.44
R8978:Celf3 UTSW 3 94,392,667 (GRCm39) missense probably benign 0.22
R9255:Celf3 UTSW 3 94,392,594 (GRCm39) missense probably benign 0.25
R9636:Celf3 UTSW 3 94,394,580 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- TTGTCTGAGGAAGCCTCATCCCTG -3'
(R):5'- ATTGGTGGCCCGGTCAACAAAG -3'

Sequencing Primer
(F):5'- GGCCTGTGGATTCCACTG -3'
(R):5'- CAAACATCTGGAGGATCTCTGAGTC -3'
Posted On 2013-07-30