Incidental Mutation 'R0919:Clcf1'
ID 82801
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 039069-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0919 (G1)
Quality Score 210
Status Validated
Chromosome 19
Chromosomal Location 4264479-4273548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4272252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 103 (L103Q)
Ref Sequence ENSEMBL: ENSMUSP00000045562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046506] [ENSMUST00000138090]
AlphaFold Q9QZM3
Predicted Effect probably damaging
Transcript: ENSMUST00000046506
AA Change: L103Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045562
Gene: ENSMUSG00000040663
AA Change: L103Q

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 probably benign
Transcript: ENSMUST00000138090
Meta Mutation Damage Score 0.7670 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 96% (43/45)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C A 18: 65,440,544 (GRCm39) C283F probably benign Het
Anapc1 T C 2: 128,459,651 (GRCm39) R1803G probably benign Het
Anapc4 T C 5: 53,012,979 (GRCm39) V423A probably benign Het
Arfgef3 A G 10: 18,465,483 (GRCm39) I2120T possibly damaging Het
Btaf1 T A 19: 36,968,143 (GRCm39) H1109Q probably benign Het
Cfap418 A G 4: 10,882,462 (GRCm39) T124A probably benign Het
Cfap70 G A 14: 20,454,232 (GRCm39) P851S probably benign Het
Col11a2 T A 17: 34,278,124 (GRCm39) V1032E possibly damaging Het
Cyp2c38 T G 19: 39,393,113 (GRCm39) D318A probably benign Het
Dbpht2 A G 12: 74,345,774 (GRCm39) noncoding transcript Het
Dhx34 A C 7: 15,935,883 (GRCm39) V893G probably damaging Het
Fsip2 T A 2: 82,815,828 (GRCm39) C3854S possibly damaging Het
Htr1a T C 13: 105,581,344 (GRCm39) Y195H probably damaging Het
Insr A G 8: 3,208,769 (GRCm39) S1231P probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kpna4 A T 3: 68,993,161 (GRCm39) probably benign Het
Or52d13 A G 7: 103,110,019 (GRCm39) I132T probably damaging Het
Or52e8 A T 7: 104,624,519 (GRCm39) Y228* probably null Het
Or5m3 A G 2: 85,838,984 (GRCm39) Y288C possibly damaging Het
Osbpl7 G A 11: 96,946,927 (GRCm39) R239H possibly damaging Het
Prkce G A 17: 86,937,588 (GRCm39) V674I probably benign Het
Prkrip1 T C 5: 136,226,685 (GRCm39) M52V possibly damaging Het
Sash1 A G 10: 8,605,843 (GRCm39) M849T probably benign Het
Scaf8 T C 17: 3,247,395 (GRCm39) L906S probably damaging Het
Sfmbt2 T C 2: 10,582,382 (GRCm39) L676P probably benign Het
Sgsm1 C T 5: 113,406,708 (GRCm39) V923I probably damaging Het
Slc38a3 A T 9: 107,533,158 (GRCm39) L305Q probably damaging Het
Slc44a5 A G 3: 153,949,223 (GRCm39) Y232C probably damaging Het
Spag17 A T 3: 99,979,259 (GRCm39) probably benign Het
Synm T C 7: 67,385,095 (GRCm39) I414V probably damaging Het
Tbc1d12 C T 19: 38,902,493 (GRCm39) H551Y possibly damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Trpc7 C T 13: 56,970,462 (GRCm39) probably benign Het
Trpm7 G A 2: 126,673,158 (GRCm39) R532C probably damaging Het
Ttn T A 2: 76,777,086 (GRCm39) K1485* probably null Het
Txn2 T C 15: 77,811,949 (GRCm39) D69G probably damaging Het
U2af2 C T 7: 5,072,433 (GRCm39) probably benign Het
Ubn1 T C 16: 4,882,255 (GRCm39) Y239H probably damaging Het
Ubtf A G 11: 102,200,603 (GRCm39) probably benign Het
Usp49 T A 17: 47,983,376 (GRCm39) V127D probably benign Het
Washc2 C T 6: 116,185,225 (GRCm39) R20W probably damaging Het
Zscan10 T C 17: 23,828,981 (GRCm39) S476P probably damaging Het
Other mutations in Clcf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0095:Clcf1 UTSW 19 4,265,842 (GRCm39) intron probably benign
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
Predicted Primers PCR Primer
(F):5'- AAACCTCCCATGTCAGGGGTCAAG -3'
(R):5'- CTTCAGCAGCCAGAAGTCATCCATC -3'

Sequencing Primer
(F):5'- TCAGGGGTCAAGAGCGATAG -3'
(R):5'- AGTCACTGTGGGCAGGG -3'
Posted On 2013-11-08