Incidental Mutation 'R7454:Celf5'
ID 578013
Institutional Source Beutler Lab
Gene Symbol Celf5
Ensembl Gene ENSMUSG00000034818
Gene Name CUGBP, Elav-like family member 5
Synonyms 4930565A21Rik, Brunol5
MMRRC Submission 045528-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R7454 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 81295061-81318543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81318357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 28 (E28G)
Ref Sequence ENSEMBL: ENSMUSP00000113675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020463] [ENSMUST00000118498] [ENSMUST00000118763] [ENSMUST00000120508] [ENSMUST00000124437]
AlphaFold A0A5F8MPH2
Predicted Effect probably benign
Transcript: ENSMUST00000020463
SMART Domains Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 160 172 N/A INTRINSIC
Pfam:Peptidase_M28 205 421 1.8e-13 PFAM
Pfam:Nicastrin 217 411 2.1e-9 PFAM
transmembrane domain 521 543 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118498
SMART Domains Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 160 172 N/A INTRINSIC
Pfam:Peptidase_M28 217 395 3.9e-12 PFAM
Pfam:Nicastrin 217 411 1.5e-10 PFAM
transmembrane domain 520 542 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118763
AA Change: E28G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113675
Gene: ENSMUSG00000034818
AA Change: E28G

DomainStartEndE-ValueType
RRM 8 84 7.41e-18 SMART
RRM 97 172 3.23e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120508
AA Change: E28G

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113592
Gene: ENSMUSG00000034818
AA Change: E28G

DomainStartEndE-ValueType
RRM 8 84 7.41e-18 SMART
RRM 96 171 3.23e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124437
SMART Domains Protein: ENSMUSP00000115235
Gene: ENSMUSG00000020238

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (90/90)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510002D24Rik A G 16: 18,655,601 (GRCm39) E57G possibly damaging Het
4932414N04Rik C A 2: 68,518,648 (GRCm39) T159K unknown Het
Adamts10 T A 17: 33,763,979 (GRCm39) F616L possibly damaging Het
Adtrp G A 13: 41,981,791 (GRCm39) S26L unknown Het
Alpk3 A C 7: 80,728,310 (GRCm39) E480A probably benign Het
Anks6 T C 4: 47,038,919 (GRCm39) T529A unknown Het
Arl4d A G 11: 101,557,486 (GRCm39) H4R probably benign Het
Ash1l A G 3: 88,891,172 (GRCm39) H1017R probably benign Het
Bbs12 T C 3: 37,375,102 (GRCm39) S517P possibly damaging Het
Bcl11b C A 12: 107,882,467 (GRCm39) R616L possibly damaging Het
Bean1 G A 8: 104,937,658 (GRCm39) G79D probably damaging Het
Bicra C G 7: 15,706,059 (GRCm39) G1461R probably benign Het
Bptf T C 11: 106,935,466 (GRCm39) T124A probably benign Het
Btnl4 A T 17: 34,691,348 (GRCm39) V312E probably benign Het
Ccdc7a A G 8: 129,670,997 (GRCm39) M503T unknown Het
Cilp2 G A 8: 70,336,040 (GRCm39) L350F probably damaging Het
Clec4a2 T C 6: 123,119,411 (GRCm39) I245T probably damaging Het
Ctnnal1 A T 4: 56,844,544 (GRCm39) V140D probably damaging Het
Dennd4a A C 9: 64,759,852 (GRCm39) H319P probably damaging Het
Dlgap3 G T 4: 127,128,852 (GRCm39) L857F probably null Het
Dnah6 T A 6: 73,189,475 (GRCm39) T58S probably damaging Het
Dnah7a T A 1: 53,557,923 (GRCm39) M2164L probably benign Het
Dspp T A 5: 104,323,476 (GRCm39) H206Q probably benign Het
Dzip1l G A 9: 99,541,727 (GRCm39) V443M possibly damaging Het
Erc2 A G 14: 28,024,948 (GRCm39) H939R possibly damaging Het
Fam149a G T 8: 45,801,583 (GRCm39) H513N probably benign Het
Fam171a2 T C 11: 102,330,543 (GRCm39) T280A possibly damaging Het
Fkbp5 A C 17: 28,634,999 (GRCm39) V170G probably damaging Het
Fnbp4 ACCACCTCCACCTCCACCTCC ACCACCTCCACCTCCACCTCCACCTCC 2: 90,608,159 (GRCm39) probably benign Het
Fzd2 T C 11: 102,495,955 (GRCm39) F133S probably damaging Het
Galm A G 17: 80,445,550 (GRCm39) N100S possibly damaging Het
Gbp2b T A 3: 142,303,920 (GRCm39) I5N possibly damaging Het
Gga2 T C 7: 121,601,369 (GRCm39) R245G probably benign Het
Gm10053 A G 19: 24,853,264 (GRCm39) T50A probably benign Het
Gm1110 T C 9: 26,831,945 (GRCm39) T69A probably benign Het
Heatr5a T C 12: 52,008,326 (GRCm39) S6G probably benign Het
Hmcn1 A G 1: 150,439,355 (GRCm39) S5610P probably damaging Het
Hmgb4 A G 4: 128,154,199 (GRCm39) V123A probably damaging Het
Itgal C A 7: 126,926,936 (GRCm39) Q943K probably benign Het
Jakmip1 C A 5: 37,332,498 (GRCm39) D1059E probably damaging Het
Jazf1 T C 6: 52,870,929 (GRCm39) probably null Het
Kat6a A G 8: 23,425,788 (GRCm39) E1111G possibly damaging Het
Kdm4b C A 17: 56,696,639 (GRCm39) P452T probably benign Het
Krit1 T C 5: 3,862,474 (GRCm39) Y210H probably damaging Het
Krtap6-2 A T 16: 89,216,800 (GRCm39) Y56N unknown Het
Lig1 A T 7: 13,022,647 (GRCm39) D158V probably damaging Het
Lmo1 A T 7: 108,739,873 (GRCm39) L94Q probably benign Het
Lrrc30 A T 17: 67,939,238 (GRCm39) L114H probably damaging Het
Ltn1 T C 16: 87,194,700 (GRCm39) I1400V probably benign Het
Mark3 T C 12: 111,570,961 (GRCm39) I87T probably damaging Het
Mfrp G T 9: 44,016,480 (GRCm39) V392F possibly damaging Het
Mrgprg A G 7: 143,318,872 (GRCm39) L80P probably damaging Het
Ndufaf3 A T 9: 108,444,125 (GRCm39) M1K probably null Het
Nme7 T A 1: 164,208,217 (GRCm39) L295* probably null Het
Noct G T 3: 51,157,151 (GRCm39) C163F probably damaging Het
Or11h4b T A 14: 50,918,281 (GRCm39) Q270L possibly damaging Het
Or13a26 A T 7: 140,284,547 (GRCm39) I128F probably damaging Het
Or4b1 T A 2: 89,979,763 (GRCm39) I196F possibly damaging Het
Or5ak22 T A 2: 85,229,955 (GRCm39) K307N probably damaging Het
Or6c203 T A 10: 129,010,324 (GRCm39) T189S probably damaging Het
Or8g2 A G 9: 39,821,200 (GRCm39) I34V probably benign Het
Patz1 C T 11: 3,248,297 (GRCm39) probably benign Het
Per3 A G 4: 151,097,185 (GRCm39) L780P probably benign Het
Pira1 T G 7: 3,738,509 (GRCm39) E622D probably benign Het
Pla2g4a T C 1: 149,748,441 (GRCm39) M256V possibly damaging Het
Pnliprp1 A G 19: 58,729,532 (GRCm39) K395R probably benign Het
Poc5 G T 13: 96,537,340 (GRCm39) G242V possibly damaging Het
Ppfia4 A G 1: 134,251,873 (GRCm39) S434P possibly damaging Het
Prss42 A G 9: 110,627,897 (GRCm39) N110S probably benign Het
Ralgapb T A 2: 158,274,822 (GRCm39) I241N possibly damaging Het
Rbak A C 5: 143,159,528 (GRCm39) Y508* probably null Het
S1pr2 G T 9: 20,878,845 (GRCm39) R328S possibly damaging Het
Sap130 T C 18: 31,783,565 (GRCm39) M214T probably benign Het
Slc46a1 T A 11: 78,357,337 (GRCm39) V130E probably damaging Het
Smc4 A T 3: 68,925,457 (GRCm39) H343L probably benign Het
Tarbp1 C A 8: 127,184,416 (GRCm39) R500L probably benign Het
Tasor2 A G 13: 3,635,332 (GRCm39) S492P probably benign Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Tpp2 T C 1: 43,993,819 (GRCm39) S235P probably benign Het
Trbc2 G T 6: 41,523,763 (GRCm39) R33M Het
Trim3 C T 7: 105,268,765 (GRCm39) R63Q probably damaging Het
Ttc28 T C 5: 111,433,350 (GRCm39) V2128A probably benign Het
Ttn C T 2: 76,556,162 (GRCm39) R30281H probably damaging Het
Ttn T A 2: 76,774,483 (GRCm39) Q2187L unknown Het
Ttyh3 T C 5: 140,615,180 (GRCm39) S403G possibly damaging Het
Vmn2r112 A T 17: 22,822,288 (GRCm39) D322V probably benign Het
Wdr38 C T 2: 38,888,352 (GRCm39) probably benign Het
Xrn1 T A 9: 95,930,411 (GRCm39) S1543R probably benign Het
Zbtb8b G A 4: 129,326,562 (GRCm39) T201I possibly damaging Het
Other mutations in Celf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Celf5 APN 10 81,302,914 (GRCm39) unclassified probably benign
IGL02193:Celf5 APN 10 81,306,507 (GRCm39) missense probably damaging 1.00
IGL02199:Celf5 APN 10 81,318,318 (GRCm39) missense possibly damaging 0.71
R0012:Celf5 UTSW 10 81,305,346 (GRCm39) missense probably damaging 0.99
R0207:Celf5 UTSW 10 81,306,532 (GRCm39) missense probably null 1.00
R0242:Celf5 UTSW 10 81,300,243 (GRCm39) missense probably benign 0.00
R0242:Celf5 UTSW 10 81,300,243 (GRCm39) missense probably benign 0.00
R0607:Celf5 UTSW 10 81,301,839 (GRCm39) missense probably damaging 1.00
R1165:Celf5 UTSW 10 81,307,172 (GRCm39) missense probably damaging 1.00
R1775:Celf5 UTSW 10 81,303,138 (GRCm39) unclassified probably benign
R1796:Celf5 UTSW 10 81,303,053 (GRCm39) missense possibly damaging 0.90
R2291:Celf5 UTSW 10 81,302,881 (GRCm39) missense probably damaging 0.98
R4812:Celf5 UTSW 10 81,306,573 (GRCm39) missense probably damaging 1.00
R5367:Celf5 UTSW 10 81,303,098 (GRCm39) missense probably damaging 1.00
R6323:Celf5 UTSW 10 81,305,337 (GRCm39) missense probably damaging 1.00
R7033:Celf5 UTSW 10 81,298,548 (GRCm39) missense probably damaging 0.99
R7226:Celf5 UTSW 10 81,303,863 (GRCm39) missense probably damaging 0.98
R9729:Celf5 UTSW 10 81,303,925 (GRCm39) missense probably damaging 1.00
Z1088:Celf5 UTSW 10 81,302,783 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCTAGAAGGCTCAGGTGCAG -3'
(R):5'- ATTTCTCTGCCAGCCTCGAG -3'

Sequencing Primer
(F):5'- CTCAGGTGCAGGGAGGTG -3'
(R):5'- TCGAGGCCTCAGTTTCCCG -3'
Posted On 2019-10-07