Incidental Mutation 'R1527:Cxcl17'
ID 166289
Institutional Source Beutler Lab
Gene Symbol Cxcl17
Ensembl Gene ENSMUSG00000060188
Gene Name C-X-C motif chemokine ligand 17
Synonyms
MMRRC Submission 039567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1527 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 25099478-25112311 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25101636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 67 (V67A)
Ref Sequence ENSEMBL: ENSMUSP00000073687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074040] [ENSMUST00000105177] [ENSMUST00000149349] [ENSMUST00000200880]
AlphaFold Q5UW37
Predicted Effect possibly damaging
Transcript: ENSMUST00000074040
AA Change: V67A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000073687
Gene: ENSMUSG00000060188
AA Change: V67A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:CXCL17 23 126 2.8e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105177
SMART Domains Protein: ENSMUSP00000100811
Gene: ENSMUSG00000003123

DomainStartEndE-ValueType
low complexity region 74 90 N/A INTRINSIC
low complexity region 152 167 N/A INTRINSIC
low complexity region 250 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149349
SMART Domains Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123

DomainStartEndE-ValueType
low complexity region 74 90 N/A INTRINSIC
low complexity region 152 167 N/A INTRINSIC
low complexity region 250 261 N/A INTRINSIC
Pfam:HSL_N 319 627 1.2e-116 PFAM
Pfam:DUF2424 616 774 1.2e-8 PFAM
Pfam:Abhydrolase_3 658 817 1.9e-34 PFAM
low complexity region 881 896 N/A INTRINSIC
Pfam:Abhydrolase_3 951 1041 2.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200880
AA Change: V67A

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144096
Gene: ENSMUSG00000060188
AA Change: V67A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:CXCL17 23 111 2.8e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206436
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mucosal chemokine that attracts immature dendritic cells and blood monocytes to the lungs. The encoded protein also promotes tumorigenesis through an angiogenic activity. Finally, this protein exhibits strong antimicrobial activity against E. coli, S. aureus, Salmonella, P. aeruginosa, and C. albicans. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik C A 19: 21,575,633 (GRCm39) C130F probably damaging Het
4933402N03Rik T C 7: 130,740,589 (GRCm39) D209G probably benign Het
Adam7 A G 14: 68,738,970 (GRCm39) V744A probably benign Het
Atr G T 9: 95,752,096 (GRCm39) R571I possibly damaging Het
C5ar1 A G 7: 15,982,118 (GRCm39) Y301H probably damaging Het
Cacna1d A G 14: 29,829,753 (GRCm39) I954T probably damaging Het
Ccdc157 A G 11: 4,101,795 (GRCm39) F42S probably damaging Het
Cfap251 T C 5: 123,425,408 (GRCm39) V789A probably benign Het
Chd2 A T 7: 73,140,362 (GRCm39) L622* probably null Het
Csmd3 T C 15: 47,811,483 (GRCm39) T1203A probably benign Het
Ddx4 T C 13: 112,758,773 (GRCm39) T263A possibly damaging Het
Eps8l1 A G 7: 4,474,393 (GRCm39) D288G probably benign Het
Fbxl4 A G 4: 22,386,154 (GRCm39) K254E probably benign Het
Glis1 T C 4: 107,425,123 (GRCm39) S245P probably damaging Het
Gm11111 T C 5: 98,701,387 (GRCm39) probably benign Het
Haus3 A T 5: 34,311,397 (GRCm39) H544Q probably benign Het
Hmcn1 A G 1: 150,649,554 (GRCm39) V644A probably benign Het
Lmo7 T C 14: 102,114,264 (GRCm39) L2P probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mga A G 2: 119,747,078 (GRCm39) T410A probably damaging Het
Mical3 T C 6: 121,001,740 (GRCm39) D584G probably damaging Het
Miga1 A T 3: 152,023,300 (GRCm39) F250L possibly damaging Het
Mroh1 A G 15: 76,336,463 (GRCm39) D1553G probably benign Het
Myof T C 19: 37,913,067 (GRCm39) Y1462C probably damaging Het
Notch4 T C 17: 34,784,718 (GRCm39) C144R probably damaging Het
Obox1 T C 7: 15,289,250 (GRCm39) V55A probably damaging Het
Or14j8 T A 17: 38,263,720 (GRCm39) H65L possibly damaging Het
Or4a69 C T 2: 89,312,876 (GRCm39) G201D probably benign Het
Or6c69c T A 10: 129,911,061 (GRCm39) S261T probably damaging Het
Pclo T C 5: 14,729,662 (GRCm39) probably benign Het
Prr14l C T 5: 32,985,293 (GRCm39) V1401I possibly damaging Het
Rad51ap1 T C 6: 126,905,130 (GRCm39) probably null Het
Rev3l T A 10: 39,698,818 (GRCm39) V1105D probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sgsm2 A T 11: 74,744,674 (GRCm39) C848* probably null Het
Slc39a10 A T 1: 46,858,422 (GRCm39) V625E probably benign Het
Spry4 C T 18: 38,723,630 (GRCm39) M44I probably benign Het
Stat5b A T 11: 100,699,220 (GRCm39) probably null Het
Tas2r126 T C 6: 42,412,070 (GRCm39) I201T probably benign Het
Tasor T C 14: 27,202,050 (GRCm39) probably null Het
Tex44 A G 1: 86,355,368 (GRCm39) T426A probably benign Het
Tln2 T C 9: 67,179,950 (GRCm39) D807G possibly damaging Het
Tlr9 A G 9: 106,100,949 (GRCm39) N80S probably benign Het
Trpm7 A C 2: 126,672,082 (GRCm39) H579Q probably benign Het
Ufd1 T C 16: 18,633,661 (GRCm39) S29P probably damaging Het
Ugt2a3 G T 5: 87,473,457 (GRCm39) Q487K probably damaging Het
Zfyve9 A G 4: 108,552,964 (GRCm39) probably null Het
Other mutations in Cxcl17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3772:Cxcl17 UTSW 7 25,099,754 (GRCm39) utr 3 prime probably benign
R5913:Cxcl17 UTSW 7 25,101,671 (GRCm39) nonsense probably null
R7227:Cxcl17 UTSW 7 25,102,319 (GRCm39) missense probably damaging 0.96
R7673:Cxcl17 UTSW 7 25,102,293 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGGCTAGTTGATGCAGCCTTACC -3'
(R):5'- AGGAGCAGATGCCTACCAAGTCTAC -3'

Sequencing Primer
(F):5'- GATGCAGCCTTACCTCCAC -3'
(R):5'- ccagtcttagcctgatgttcc -3'
Posted On 2014-04-13