Incidental Mutation 'IGL03409:Cxcl14'
ID421718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cxcl14
Ensembl Gene ENSMUSG00000021508
Gene Namechemokine (C-X-C motif) ligand 14
SynonymsKec, BRAK, 1200006I23Rik, Scyb14, 1110031L23Rik, MIP-2g
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.694) question?
Stock #IGL03409
Quality Score
Status
Chromosome13
Chromosomal Location56288643-56296551 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56292507 bp
ZygosityHeterozygous
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]
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: 123,965,023 M401K possibly damaging Het
Ablim3 T A 18: 61,845,851 H203L probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aox2 T G 1: 58,354,429 D1249E possibly damaging Het
Astn2 T C 4: 65,435,186 I1116V possibly damaging Het
Atad3a T C 4: 155,747,350 D489G probably damaging Het
Caln1 G T 5: 130,617,878 G52C probably damaging Het
Cbwd1 A G 19: 24,922,766 V289A probably benign Het
Clcn7 A G 17: 25,155,385 T467A probably damaging Het
Col17a1 A T 19: 47,666,540 I599N possibly damaging Het
Cul2 T A 18: 3,429,593 H547Q probably damaging Het
Dscaml1 T A 9: 45,670,103 Y407N probably damaging Het
Edc4 T A 8: 105,885,116 I108N probably damaging Het
Exoc2 T C 13: 30,940,737 probably benign Het
Gm1110 T G 9: 26,896,620 H290P probably benign Het
Gm16223 T A 5: 42,067,993 W12R unknown Het
Herc2 C A 7: 56,228,569 H4623Q probably damaging Het
Igkv18-36 A T 6: 69,992,605 H68Q possibly damaging Het
Kif7 T C 7: 79,707,553 E635G probably benign Het
Olfr1160 A T 2: 88,005,895 N285K probably damaging Het
Olfr1214 A T 2: 88,987,587 I205N possibly damaging Het
Olfr328 T C 11: 58,551,562 K226E probably benign Het
Olfr618 T A 7: 103,597,367 M17K possibly damaging Het
Pam C A 1: 97,864,329 A456S probably benign Het
Pgap3 T C 11: 98,398,938 T76A possibly damaging Het
Pkd2 C A 5: 104,489,349 Y609* probably null Het
Plcg2 A G 8: 117,583,495 D362G probably damaging Het
Polr3h C A 15: 81,917,394 A94S probably benign Het
Rhod T C 19: 4,432,158 D76G probably damaging Het
Rims2 T C 15: 39,456,733 V670A probably damaging Het
Rpap3 G A 15: 97,681,739 T464M possibly damaging Het
Rufy1 T A 11: 50,406,483 I381L probably benign Het
Slc1a4 T C 11: 20,306,506 T442A probably damaging Het
Slc9b1 T C 3: 135,394,909 S472P probably damaging Het
Tmtc3 T C 10: 100,451,432 T501A possibly damaging Het
Tnpo3 C A 6: 29,555,182 D801Y probably damaging Het
Ttc39b T C 4: 83,260,956 Y111C probably damaging Het
Ubr4 A T 4: 139,399,929 R543* probably null Het
Vmn1r74 T G 7: 11,847,313 L180R probably damaging Het
Vps45 T G 3: 96,053,089 E80A probably benign Het
Zfp677 T C 17: 21,396,845 Y55H probably damaging Het
Other mutations in Cxcl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4592:Cxcl14 UTSW 13 56295895 missense probably damaging 1.00
R6092:Cxcl14 UTSW 13 56295833 missense possibly damaging 0.95
R7448:Cxcl14 UTSW 13 56292531 missense probably damaging 1.00
Posted On2016-08-02