Incidental Mutation 'IGL03409:Cxcl14'
ID 421718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cxcl14
Ensembl Gene ENSMUSG00000021508
Gene Name C-X-C motif chemokine ligand 14
Synonyms 1110031L23Rik, 1200006I23Rik, MIP-2g, BRAK, Scyb14, Kec
Accession Numbers
Essential gene? Possibly essential (E-score: 0.683) question?
Stock # IGL03409
Quality Score
Status
Chromosome 13
Chromosomal Location 56436456-56444364 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56440320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 80 (T80A)
Ref Sequence ENSEMBL: ENSMUSP00000021970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021970] [ENSMUST00000224801]
AlphaFold Q9WUQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000021970
AA Change: T80A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021970
Gene: ENSMUSG00000021508
AA Change: T80A

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Pfam:IL8 17 86 2.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224801
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This antimicrobial gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mutant cause partial lethality before weaning, however surviving null are small but fertile and show insulin-sensitive phenotype in female under high fat diet feeding condition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 124,691,762 (GRCm39) M401K possibly damaging Het
Ablim3 T A 18: 61,978,922 (GRCm39) H203L probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aox1 T G 1: 58,393,588 (GRCm39) D1249E possibly damaging Het
Astn2 T C 4: 65,353,423 (GRCm39) I1116V possibly damaging Het
Atad3a T C 4: 155,831,807 (GRCm39) D489G probably damaging Het
Caln1 G T 5: 130,646,719 (GRCm39) G52C probably damaging Het
Clcn7 A G 17: 25,374,359 (GRCm39) T467A probably damaging Het
Col17a1 A T 19: 47,654,979 (GRCm39) I599N possibly damaging Het
Cul2 T A 18: 3,429,593 (GRCm39) H547Q probably damaging Het
Dscaml1 T A 9: 45,581,401 (GRCm39) Y407N probably damaging Het
Edc4 T A 8: 106,611,748 (GRCm39) I108N probably damaging Het
Exoc2 T C 13: 31,124,720 (GRCm39) probably benign Het
Gm1110 T G 9: 26,807,916 (GRCm39) H290P probably benign Het
Gm16223 T A 5: 42,225,336 (GRCm39) W12R unknown Het
Herc2 C A 7: 55,878,317 (GRCm39) H4623Q probably damaging Het
Igkv18-36 A T 6: 69,969,589 (GRCm39) H68Q possibly damaging Het
Kif7 T C 7: 79,357,301 (GRCm39) E635G probably benign Het
Or2t47 T C 11: 58,442,388 (GRCm39) K226E probably benign Het
Or4c109 A T 2: 88,817,931 (GRCm39) I205N possibly damaging Het
Or52z13 T A 7: 103,246,574 (GRCm39) M17K possibly damaging Het
Or9m1b A T 2: 87,836,239 (GRCm39) N285K probably damaging Het
Pam C A 1: 97,792,054 (GRCm39) A456S probably benign Het
Pgap3 T C 11: 98,289,764 (GRCm39) T76A possibly damaging Het
Pkd2 C A 5: 104,637,215 (GRCm39) Y609* probably null Het
Plcg2 A G 8: 118,310,234 (GRCm39) D362G probably damaging Het
Polr3h C A 15: 81,801,595 (GRCm39) A94S probably benign Het
Rhod T C 19: 4,482,186 (GRCm39) D76G probably damaging Het
Rims2 T C 15: 39,320,129 (GRCm39) V670A probably damaging Het
Rpap3 G A 15: 97,579,620 (GRCm39) T464M possibly damaging Het
Rufy1 T A 11: 50,297,310 (GRCm39) I381L probably benign Het
Slc1a4 T C 11: 20,256,506 (GRCm39) T442A probably damaging Het
Slc9b1 T C 3: 135,100,670 (GRCm39) S472P probably damaging Het
Tmtc3 T C 10: 100,287,294 (GRCm39) T501A possibly damaging Het
Tnpo3 C A 6: 29,555,181 (GRCm39) D801Y probably damaging Het
Ttc39b T C 4: 83,179,193 (GRCm39) Y111C probably damaging Het
Ubr4 A T 4: 139,127,240 (GRCm39) R543* probably null Het
Vmn1r74 T G 7: 11,581,240 (GRCm39) L180R probably damaging Het
Vps45 T G 3: 95,960,401 (GRCm39) E80A probably benign Het
Zfp677 T C 17: 21,617,107 (GRCm39) Y55H probably damaging Het
Zng1 A G 19: 24,900,130 (GRCm39) V289A probably benign Het
Other mutations in Cxcl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4592:Cxcl14 UTSW 13 56,443,708 (GRCm39) missense probably damaging 1.00
R6092:Cxcl14 UTSW 13 56,443,646 (GRCm39) missense possibly damaging 0.95
R7448:Cxcl14 UTSW 13 56,440,344 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02