Incidental Mutation 'R4130:Cytl1'
ID 315503
Institutional Source Beutler Lab
Gene Symbol Cytl1
Ensembl Gene ENSMUSG00000062329
Gene Name cytokine-like 1
Synonyms 4930443F05Rik, C17
MMRRC Submission 041636-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4130 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 37892863-37897164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37892985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 32 (S32P)
Ref Sequence ENSEMBL: ENSMUSP00000073244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073554]
AlphaFold A1E5L0
Predicted Effect probably damaging
Transcript: ENSMUST00000073554
AA Change: S32P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073244
Gene: ENSMUSG00000062329
AA Change: S32P

DomainStartEndE-ValueType
Pfam:CYTL1 6 136 4.3e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201048
Meta Mutation Damage Score 0.3902 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (29/29)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to osteoarthritic cartilage destruction following destabilization of the medial meniscus surgery. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik T C 10: 21,301,441 (GRCm39) noncoding transcript Het
A4gnt A G 9: 99,502,671 (GRCm39) D277G possibly damaging Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arpp21 T A 9: 111,984,376 (GRCm39) probably benign Het
Bbx T C 16: 50,045,221 (GRCm39) K447E probably damaging Het
Bcar1 A G 8: 112,440,797 (GRCm39) L399P possibly damaging Het
Eif4e1b C T 13: 54,935,130 (GRCm39) T219M probably benign Het
F10 A G 8: 13,105,584 (GRCm39) D383G possibly damaging Het
Gm37267 T G 1: 180,336,643 (GRCm39) noncoding transcript Het
Golga2 G A 2: 32,178,178 (GRCm39) R29H probably benign Het
Gpd1 A T 15: 99,617,158 (GRCm39) probably null Het
Lrrk2 G A 15: 91,639,997 (GRCm39) R1514Q probably benign Het
Map1b T C 13: 99,568,188 (GRCm39) E1511G unknown Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or13n4 C T 7: 106,422,792 (GRCm39) G314S probably benign Het
Pdzd9 A T 7: 120,262,092 (GRCm39) D123E possibly damaging Het
Pramel29 T A 4: 143,935,379 (GRCm39) I121F probably damaging Het
Rab3gap2 A G 1: 184,936,494 (GRCm39) D19G possibly damaging Het
Rnf213 T C 11: 119,373,832 (GRCm39) S4972P probably damaging Het
Skap1 A G 11: 96,416,871 (GRCm39) Y52C probably damaging Het
Sphkap T C 1: 83,255,619 (GRCm39) N710S probably damaging Het
Tedc1 T A 12: 113,126,828 (GRCm39) D363E probably benign Het
Vmn2r44 T A 7: 8,370,918 (GRCm39) Q709H probably damaging Het
Wdr5 G T 2: 27,410,441 (GRCm39) probably benign Het
Other mutations in Cytl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1469:Cytl1 UTSW 5 37,892,991 (GRCm39) missense probably benign 0.01
R1469:Cytl1 UTSW 5 37,892,991 (GRCm39) missense probably benign 0.01
R4073:Cytl1 UTSW 5 37,892,940 (GRCm39) missense unknown
R4074:Cytl1 UTSW 5 37,892,940 (GRCm39) missense unknown
R4888:Cytl1 UTSW 5 37,892,918 (GRCm39) missense unknown
R6465:Cytl1 UTSW 5 37,895,014 (GRCm39) missense probably benign 0.34
Z1176:Cytl1 UTSW 5 37,893,039 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- AGTTCCACCCTCCTTGGATG -3'
(R):5'- CTGAACTCCTAGACTCTGTAGTG -3'

Sequencing Primer
(F):5'- ACCCTCCTTGGATGCCTGG -3'
(R):5'- GAACTCCTAGACTCTGTAGTGATATG -3'
Posted On 2015-05-14