Incidental Mutation 'R1165:Celf5'
ID100952
Institutional Source Beutler Lab
Gene Symbol Celf5
Ensembl Gene ENSMUSG00000034818
Gene NameCUGBP, Elav-like family member 5
Synonyms4930565A21Rik, Brunol5
MMRRC Submission 039238-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.209) question?
Stock #R1165 (G1)
Quality Score138
Status Validated
Chromosome10
Chromosomal Location81459227-81482709 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 81471338 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 83 (V83E)
Ref Sequence ENSEMBL: ENSMUSP00000113592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118763] [ENSMUST00000119060] [ENSMUST00000120508] [ENSMUST00000120856] [ENSMUST00000147524]
Predicted Effect probably damaging
Transcript: ENSMUST00000118763
AA Change: V83E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113675
Gene: ENSMUSG00000034818
AA Change: V83E

DomainStartEndE-ValueType
RRM 8 84 7.41e-18 SMART
RRM 97 172 3.23e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119060
AA Change: V7E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113546
Gene: ENSMUSG00000034818
AA Change: V7E

DomainStartEndE-ValueType
RRM 21 96 3.23e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120508
AA Change: V83E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113592
Gene: ENSMUSG00000034818
AA Change: V83E

DomainStartEndE-ValueType
RRM 8 84 7.41e-18 SMART
RRM 96 171 3.23e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120856
AA Change: V7E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113784
Gene: ENSMUSG00000034818
AA Change: V7E

DomainStartEndE-ValueType
RRM 20 95 3.23e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145375
Predicted Effect probably damaging
Transcript: ENSMUST00000147524
AA Change: V13E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117430
Gene: ENSMUSG00000034818
AA Change: V13E

DomainStartEndE-ValueType
RRM 27 92 6.87e-13 SMART
Meta Mutation Damage Score 0.4897 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the the CELF/BRUNOL protein family, which 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik A C 17: 23,710,515 probably benign Het
2210408I21Rik T G 13: 77,334,287 C1209G probably benign Het
Abcg2 C A 6: 58,678,300 L407I probably benign Het
Adtrp A G 13: 41,814,303 V56A probably damaging Het
Angptl6 T G 9: 20,878,308 N96T probably benign Het
Ank3 C A 10: 69,898,302 N780K possibly damaging Het
AU040320 A T 4: 126,823,640 probably benign Het
Best2 C T 8: 85,011,160 R202H probably benign Het
Bod1l A T 5: 41,821,053 S973T probably benign Het
Brca2 T A 5: 150,542,747 V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 P539L probably benign Het
Ccr1 A T 9: 123,963,494 V333E possibly damaging Het
Col15a1 T C 4: 47,257,275 probably benign Het
Coro1b C A 19: 4,149,902 H81N probably damaging Het
Cwc22 A T 2: 77,903,898 S686T probably damaging Het
Cyp2d26 C A 15: 82,794,041 G45W probably damaging Het
Dysf T A 6: 84,067,069 N297K probably damaging Het
Edem1 T A 6: 108,851,253 L513Q probably damaging Het
Erich1 G A 8: 14,090,530 probably benign Het
Fam196b A G 11: 34,402,740 T261A probably benign Het
Fam91a1 T C 15: 58,430,669 V286A possibly damaging Het
Fdxr C A 11: 115,271,782 probably benign Het
Gas7 T C 11: 67,670,686 probably benign Het
Glb1l2 T C 9: 26,794,101 D151G probably damaging Het
Gm14410 A C 2: 177,193,489 Y327* probably null Het
H6pd A G 4: 149,995,956 I136T possibly damaging Het
Hectd1 A T 12: 51,764,164 probably benign Het
Hipk1 T C 3: 103,761,524 T519A possibly damaging Het
Hpd A G 5: 123,176,090 probably null Het
Olfr371 T A 8: 85,230,771 I92N probably damaging Het
Olfr809 A G 10: 129,776,433 D188G probably damaging Het
Pcdha11 A G 18: 37,007,704 probably benign Het
Pdgfrb T C 18: 61,064,002 I170T probably benign Het
Rasgrp1 A T 2: 117,284,939 F723I possibly damaging Het
Retnlg A G 16: 48,873,654 T58A possibly damaging Het
Rrs1 G A 1: 9,545,767 E82K probably damaging Het
Rtel1 A G 2: 181,334,939 K243E probably benign Het
Slc19a2 G A 1: 164,263,445 G274D probably damaging Het
Slc22a27 T C 19: 7,909,694 probably null Het
Slc6a1 T C 6: 114,311,829 F266L probably damaging Het
Snx25 T G 8: 46,035,715 I868L probably damaging Het
Spag16 A G 1: 69,996,877 I355V probably benign Het
Tmem198 A T 1: 75,479,932 probably benign Het
Traf3ip3 A C 1: 193,184,478 S349A probably damaging Het
Trim17 A G 11: 58,971,215 N358D possibly damaging Het
Trmu A G 15: 85,892,674 T196A probably damaging Het
Tsen2 A G 6: 115,561,435 Y291C probably damaging Het
Vps13d A G 4: 145,126,471 F2358L probably benign Het
Wnt2 T C 6: 17,989,947 H317R probably benign Het
Zfp120 A T 2: 150,119,929 V33E probably damaging Het
Zfp407 C T 18: 84,559,773 A1072T probably benign Het
Other mutations in Celf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Celf5 APN 10 81467080 unclassified probably benign
IGL02193:Celf5 APN 10 81470673 missense probably damaging 1.00
IGL02199:Celf5 APN 10 81482484 missense possibly damaging 0.71
R0012:Celf5 UTSW 10 81469512 missense probably damaging 0.99
R0207:Celf5 UTSW 10 81470698 missense probably null 1.00
R0242:Celf5 UTSW 10 81464409 missense probably benign 0.00
R0242:Celf5 UTSW 10 81464409 missense probably benign 0.00
R0607:Celf5 UTSW 10 81466005 missense probably damaging 1.00
R1775:Celf5 UTSW 10 81467304 unclassified probably benign
R1796:Celf5 UTSW 10 81467219 missense possibly damaging 0.90
R2291:Celf5 UTSW 10 81467047 missense probably damaging 0.98
R4812:Celf5 UTSW 10 81470739 missense probably damaging 1.00
R5367:Celf5 UTSW 10 81467264 missense probably damaging 1.00
R6323:Celf5 UTSW 10 81469503 missense probably damaging 1.00
R7033:Celf5 UTSW 10 81462714 missense probably damaging 0.99
R7226:Celf5 UTSW 10 81468029 missense probably damaging 0.98
R7454:Celf5 UTSW 10 81482523 missense probably damaging 1.00
Z1088:Celf5 UTSW 10 81466949 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15