Incidental Mutation 'R0095:Clcf1'
ID 16251
Institutional Source Beutler Lab
Gene Symbol Clcf1
Ensembl Gene ENSMUSG00000040663
Gene Name cardiotrophin-like cytokine factor 1
Synonyms CLC, Bsf3, NNT-1/BSF-3
MMRRC Submission 038381-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0095 (G1)
Quality Score
Status Validated
Chromosome 19
Chromosomal Location 4264479-4273548 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 4265842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046506] [ENSMUST00000138090]
AlphaFold Q9QZM3
Predicted Effect probably benign
Transcript: ENSMUST00000046506
SMART Domains Protein: ENSMUSP00000045562
Gene: ENSMUSG00000040663

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:PRF 40 213 6.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132305
Predicted Effect unknown
Transcript: ENSMUST00000138090
AA Change: D24E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175605
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 88.6%
  • 3x: 85.1%
  • 10x: 74.3%
  • 20x: 56.3%
Validation Efficiency 88% (50/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality associated with a failure to suckle and decreased facial and spinal motor neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 T C 1: 9,630,402 (GRCm39) I317T possibly damaging Het
Aldh3a2 C T 11: 61,141,774 (GRCm39) G21D probably damaging Het
Alms1 C A 6: 85,597,235 (GRCm39) T1156N possibly damaging Het
Anxa8 G A 14: 33,808,028 (GRCm39) A6T probably benign Het
Arhgef4 C T 1: 34,771,451 (GRCm39) Q86* probably null Het
Atp4a T A 7: 30,420,160 (GRCm39) I769N probably damaging Het
Cacnb2 G T 2: 14,963,586 (GRCm39) V61F probably damaging Het
Cmah G T 13: 24,620,668 (GRCm39) A301S probably benign Het
Col6a4 A G 9: 105,952,555 (GRCm39) W448R probably benign Het
Csmd1 A T 8: 16,283,065 (GRCm39) D630E probably damaging Het
Dock10 A T 1: 80,501,788 (GRCm39) Y1434N probably benign Het
Etl4 A G 2: 20,748,679 (GRCm39) D137G probably damaging Het
Fer A T 17: 64,248,321 (GRCm39) E361V possibly damaging Het
Foxp2 C A 6: 15,196,976 (GRCm39) A6E probably damaging Het
Gpr3 T A 4: 132,938,597 (GRCm39) D25V probably benign Het
Gstm7 A T 3: 107,837,879 (GRCm39) probably benign Het
Gys1 T C 7: 45,094,073 (GRCm39) V332A possibly damaging Het
Igsf10 A T 3: 59,238,617 (GRCm39) Y521* probably null Het
Itk T C 11: 46,233,279 (GRCm39) D266G probably damaging Het
Kdm1a C T 4: 136,278,205 (GRCm39) R839H probably benign Het
Lypla1 T C 1: 4,900,550 (GRCm39) probably benign Het
Mmp1a G A 9: 7,465,621 (GRCm39) G186D possibly damaging Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Necab1 T A 4: 14,960,027 (GRCm39) N307Y possibly damaging Het
Or5p81 A C 7: 108,267,252 (GRCm39) I210L probably benign Het
Plekha5 T C 6: 140,474,323 (GRCm39) F84L probably damaging Het
Plxnb2 A G 15: 89,049,534 (GRCm39) S562P probably benign Het
Rfx8 C T 1: 39,724,696 (GRCm39) V222M possibly damaging Het
Rpap3 A G 15: 97,578,417 (GRCm39) probably benign Het
Rpl6 T G 5: 121,343,902 (GRCm39) V115G possibly damaging Het
Sec16a A T 2: 26,315,772 (GRCm39) probably null Het
Sema3d T C 5: 12,613,314 (GRCm39) Y464H probably damaging Het
Sgo2a T A 1: 58,054,714 (GRCm39) N299K probably benign Het
Tecrl T C 5: 83,442,417 (GRCm39) probably benign Het
Thsd7a T C 6: 12,320,969 (GRCm39) T1569A probably damaging Het
U2surp T C 9: 95,382,737 (GRCm39) probably null Het
Unc45a T C 7: 79,979,291 (GRCm39) D567G probably damaging Het
Zfp532 A G 18: 65,757,855 (GRCm39) Y596C probably damaging Het
Other mutations in Clcf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0919:Clcf1 UTSW 19 4,272,252 (GRCm39) missense probably damaging 1.00
R5419:Clcf1 UTSW 19 4,272,213 (GRCm39) missense possibly damaging 0.46
R5664:Clcf1 UTSW 19 4,272,150 (GRCm39) missense probably damaging 1.00
Posted On 2013-01-20