Incidental Mutation 'IGL03117:Cklf'
ID 419448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cklf
Ensembl Gene ENSMUSG00000054400
Gene Name chemokine-like factor
Synonyms C32, CKLF2, chemokine-like factor 4, Cklf6, UCK-1, HSPC224, A730028G07Rik, CKLF1, 1700001C14Rik, CKLF5, CKLF3, CKLF4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL03117
Quality Score
Status
Chromosome 8
Chromosomal Location 104977493-104991570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104984055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 73 (S73T)
Ref Sequence ENSEMBL: ENSMUSP00000148804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034342] [ENSMUST00000098464] [ENSMUST00000211809] [ENSMUST00000212410] [ENSMUST00000212939] [ENSMUST00000212433]
AlphaFold Q9DAS1
Predicted Effect possibly damaging
Transcript: ENSMUST00000034342
AA Change: S73T

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034342
Gene: ENSMUSG00000054400
AA Change: S73T

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 107 129 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000098464
AA Change: S73T

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096064
Gene: ENSMUSG00000054400
AA Change: S73T

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000211809
AA Change: S73T

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000211829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212259
Predicted Effect possibly damaging
Transcript: ENSMUST00000212410
AA Change: S73T

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212422
Predicted Effect possibly damaging
Transcript: ENSMUST00000212939
AA Change: S73T

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212433
AA Change: S73T

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212688
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CMTM1 (CKLF-like MARVEL transmembrane domain containing 1).[provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d3 A G 14: 29,189,909 (GRCm39) L109P probably damaging Het
Caprin2 A T 6: 148,763,964 (GRCm39) S568T possibly damaging Het
Catip A G 1: 74,403,744 (GRCm39) T154A probably null Het
Ccdc187 A G 2: 26,177,980 (GRCm39) S270P possibly damaging Het
Ccdc88a A G 11: 29,324,559 (GRCm39) Y39C probably damaging Het
Chrdl2 A T 7: 99,676,787 (GRCm39) H203L possibly damaging Het
Chrnb2 A G 3: 89,670,552 (GRCm39) V62A probably damaging Het
Clk1 A G 1: 58,456,166 (GRCm39) probably null Het
Ctdp1 T C 18: 80,492,716 (GRCm39) D593G probably damaging Het
Ctsc A T 7: 87,958,988 (GRCm39) I423F probably damaging Het
D130043K22Rik T A 13: 25,073,825 (GRCm39) V968E probably damaging Het
Dennd4c A G 4: 86,696,140 (GRCm39) S166G possibly damaging Het
Dnah2 G T 11: 69,327,117 (GRCm39) probably benign Het
Dnajb11 G T 16: 22,687,888 (GRCm39) R206L probably benign Het
Dsel A T 1: 111,786,908 (GRCm39) probably benign Het
Ehd2 T C 7: 15,684,396 (GRCm39) S468G possibly damaging Het
Ehmt2 T A 17: 35,125,787 (GRCm39) V640E possibly damaging Het
Elmo2 T A 2: 165,140,573 (GRCm39) E299D probably benign Het
Eps8l1 T C 7: 4,473,886 (GRCm39) L231P probably damaging Het
Esd A G 14: 74,978,686 (GRCm39) T83A probably damaging Het
Flt3 A G 5: 147,293,020 (GRCm39) F529L probably benign Het
Hnrnpu G A 1: 178,158,339 (GRCm39) probably benign Het
Hpx G T 7: 105,249,278 (GRCm39) A7E possibly damaging Het
Ighv6-5 C T 12: 114,380,320 (GRCm39) V85M possibly damaging Het
Itpr3 G A 17: 27,338,240 (GRCm39) V2503I probably damaging Het
Itprid1 A G 6: 55,875,114 (GRCm39) T355A probably benign Het
Matr3 G T 18: 35,705,710 (GRCm39) G212C probably damaging Het
Mrpl35 A T 6: 71,793,263 (GRCm39) Y129* probably null Het
Myh2 T C 11: 67,071,710 (GRCm39) I509T possibly damaging Het
Nat8l G T 5: 34,158,288 (GRCm39) A233S probably damaging Het
Nipbl A C 15: 8,361,936 (GRCm39) L1447W probably damaging Het
Paf1 T A 7: 28,094,481 (GRCm39) C31S possibly damaging Het
Parp4 A C 14: 56,840,313 (GRCm39) T573P probably benign Het
Phf12 A T 11: 77,913,846 (GRCm39) probably benign Het
Pi4k2b A G 5: 52,905,765 (GRCm39) E102G probably benign Het
Pou2f1 A G 1: 165,762,382 (GRCm39) C7R probably benign Het
Prpsap2 T C 11: 61,631,815 (GRCm39) R181G probably benign Het
Psd A G 19: 46,311,561 (GRCm39) probably benign Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rab21 A T 10: 115,151,097 (GRCm39) probably null Het
Relb T C 7: 19,346,582 (GRCm39) D330G probably damaging Het
Rhoc A T 3: 104,700,236 (GRCm39) T100S probably benign Het
Ryr1 G T 7: 28,802,389 (GRCm39) H744N probably damaging Het
Sardh C T 2: 27,129,458 (GRCm39) G280D probably damaging Het
Scyl2 A C 10: 89,493,729 (GRCm39) N346K possibly damaging Het
Sec16b T C 1: 157,362,970 (GRCm39) F267S probably damaging Het
Slc44a5 T A 3: 153,956,714 (GRCm39) M322K probably benign Het
St8sia4 T A 1: 95,519,508 (GRCm39) N327Y probably benign Het
Tbl1xr1 T A 3: 22,257,323 (GRCm39) Y395* probably null Het
Unc13c A T 9: 73,441,307 (GRCm39) S1897R probably benign Het
Vangl2 A G 1: 171,840,415 (GRCm39) S58P probably damaging Het
Vmn1r17 A G 6: 57,337,501 (GRCm39) I288T probably benign Het
Vmn1r236 A G 17: 21,507,508 (GRCm39) I209V probably benign Het
Zfp809 A G 9: 22,149,950 (GRCm39) Y149C probably damaging Het
Other mutations in Cklf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0284:Cklf UTSW 8 104,988,207 (GRCm39) unclassified probably benign
R1673:Cklf UTSW 8 104,983,983 (GRCm39) missense possibly damaging 0.82
R1831:Cklf UTSW 8 104,977,687 (GRCm39) missense probably damaging 1.00
R4806:Cklf UTSW 8 104,984,067 (GRCm39) missense probably damaging 1.00
R4959:Cklf UTSW 8 104,988,184 (GRCm39) missense probably benign 0.00
R4973:Cklf UTSW 8 104,988,184 (GRCm39) missense probably benign 0.00
R7638:Cklf UTSW 8 104,989,996 (GRCm39) nonsense probably null
R7736:Cklf UTSW 8 104,988,187 (GRCm39) missense possibly damaging 0.73
R7822:Cklf UTSW 8 104,977,729 (GRCm39) critical splice donor site probably null
R8815:Cklf UTSW 8 104,977,560 (GRCm39) unclassified probably benign
R8907:Cklf UTSW 8 104,977,671 (GRCm39) missense probably benign 0.01
R9213:Cklf UTSW 8 104,988,125 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02