Incidental Mutation 'R1831:Cklf'
ID 207330
Institutional Source Beutler Lab
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
MMRRC Submission 039858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R1831 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 104977493-104991570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104977687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 13 (F13S)
Ref Sequence ENSEMBL: ENSMUSP00000148804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034342] [ENSMUST00000050211] [ENSMUST00000098464] [ENSMUST00000211809] [ENSMUST00000211995] [ENSMUST00000212209] [ENSMUST00000212275] [ENSMUST00000212939] [ENSMUST00000212410] [ENSMUST00000212433] [ENSMUST00000212854]
AlphaFold Q9DAS1
Predicted Effect probably damaging
Transcript: ENSMUST00000034342
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034342
Gene: ENSMUSG00000054400
AA Change: F13S

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 probably benign
Transcript: ENSMUST00000050211
SMART Domains Protein: ENSMUSP00000053616
Gene: ENSMUSG00000035824

DomainStartEndE-ValueType
low complexity region 2 35 N/A INTRINSIC
Pfam:dNK 58 267 1.2e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098464
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096064
Gene: ENSMUSG00000054400
AA Change: F13S

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000211809
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211995
Predicted Effect probably benign
Transcript: ENSMUST00000212209
Predicted Effect probably benign
Transcript: ENSMUST00000212275
Predicted Effect probably damaging
Transcript: ENSMUST00000212939
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212410
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212433
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212854
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.2%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,627,255 (GRCm39) D77G probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Capn8 G A 1: 182,438,666 (GRCm39) probably null Het
Carmil1 A T 13: 24,348,862 (GRCm39) V15E probably benign Het
Ccdc42 T A 11: 68,481,805 (GRCm39) M133K probably benign Het
Cd5 T C 19: 10,696,933 (GRCm39) D485G probably damaging Het
Cdhr18 A G 14: 13,899,619 (GRCm38) I101T probably damaging Het
Cep104 T A 4: 154,087,003 (GRCm39) V842E probably benign Het
Cep162 T A 9: 87,088,985 (GRCm39) I966L probably damaging Het
Csf2rb C T 15: 78,232,453 (GRCm39) P587S probably benign Het
Cyp21a1 A T 17: 35,023,009 (GRCm39) probably benign Het
Cyp26a1 A T 19: 37,689,071 (GRCm39) L335F probably damaging Het
Dcst1 A G 3: 89,260,057 (GRCm39) F596L probably damaging Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dnah6 G A 6: 73,158,780 (GRCm39) R608C possibly damaging Het
Dnajb5 A T 4: 42,957,333 (GRCm39) T311S probably benign Het
Dthd1 A G 5: 62,984,572 (GRCm39) T426A probably benign Het
Dync1h1 A G 12: 110,580,493 (GRCm39) K118R probably damaging Het
Efemp1 A T 11: 28,871,442 (GRCm39) D347V possibly damaging Het
Ephb4 T A 5: 137,352,677 (GRCm39) Y87N probably damaging Het
Ern1 A T 11: 106,290,668 (GRCm39) probably null Het
Fam184a A T 10: 53,523,180 (GRCm39) D164E probably damaging Het
Fkbp10 A G 11: 100,314,045 (GRCm39) E351G probably damaging Het
Fmn2 A G 1: 174,437,511 (GRCm39) S1161G probably benign Het
Frem1 A G 4: 82,939,074 (GRCm39) S3P possibly damaging Het
Gpr3 C T 4: 132,938,454 (GRCm39) A73T possibly damaging Het
Gprc6a T C 10: 51,491,902 (GRCm39) T616A probably benign Het
Gtf3c2 G T 5: 31,325,713 (GRCm39) Q452K probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hacd2 T C 16: 34,922,434 (GRCm39) Y208H probably damaging Het
Hid1 C T 11: 115,239,729 (GRCm39) G734R probably damaging Het
Ifi207 A G 1: 173,559,992 (GRCm39) I160T unknown Het
Itga11 T A 9: 62,689,300 (GRCm39) L1155Q probably damaging Het
Kmt2d A G 15: 98,753,224 (GRCm39) S157P probably damaging Het
Lamb3 A G 1: 193,017,187 (GRCm39) T793A probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Ltn1 C T 16: 87,197,034 (GRCm39) S1213N possibly damaging Het
Meak7 T C 8: 120,497,992 (GRCm39) M171V probably null Het
Med1 T C 11: 98,047,437 (GRCm39) probably benign Het
Megf6 C T 4: 154,355,134 (GRCm39) T1483M probably benign Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Ndst3 T A 3: 123,395,127 (GRCm39) H501L probably benign Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nmbr C A 10: 14,642,609 (GRCm39) T56K probably benign Het
Nxpe2 T A 9: 48,237,452 (GRCm39) M268L probably benign Het
Oasl2 A G 5: 115,039,367 (GRCm39) Y185C probably benign Het
Ogdhl T A 14: 32,059,484 (GRCm39) V377E probably damaging Het
Or11g1 T A 14: 50,651,658 (GRCm39) probably null Het
Or14j4 G A 17: 37,920,730 (GRCm39) S304L possibly damaging Het
Ovgp1 A G 3: 105,892,384 (GRCm39) R346G probably benign Het
Parp14 T A 16: 35,678,958 (GRCm39) N337Y possibly damaging Het
Pask A C 1: 93,248,491 (GRCm39) probably null Het
Pax3 G T 1: 78,108,977 (GRCm39) T227K probably damaging Het
Pik3r6 T A 11: 68,434,860 (GRCm39) M594K probably benign Het
Pms1 A G 1: 53,246,370 (GRCm39) F390L probably benign Het
Polg G A 7: 79,109,518 (GRCm39) T433I probably benign Het
Prex1 T C 2: 166,427,021 (GRCm39) Y898C probably damaging Het
Ranbp2 T A 10: 58,315,044 (GRCm39) C1921* probably null Het
Rif1 T A 2: 51,968,507 (GRCm39) L230* probably null Het
Rnf148 A G 6: 23,654,772 (GRCm39) F75L probably damaging Het
Rps18-ps6 A G 13: 97,897,053 (GRCm39) V15A probably benign Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sirt1 T C 10: 63,156,425 (GRCm39) D735G probably benign Het
Spag5 T A 11: 78,205,082 (GRCm39) N622K probably benign Het
Sspo T G 6: 48,466,720 (GRCm39) C3935W probably damaging Het
Strbp A G 2: 37,515,277 (GRCm39) S250P possibly damaging Het
Tgfbr2 T C 9: 115,919,604 (GRCm39) T541A possibly damaging Het
Thada A C 17: 84,538,542 (GRCm39) S1489A probably damaging Het
Tiam1 A T 16: 89,657,182 (GRCm39) S685T probably benign Het
Tpsb2 T A 17: 25,585,494 (GRCm39) probably null Het
Trip4 C A 9: 65,765,622 (GRCm39) G359V probably damaging Het
Tsr1 T C 11: 74,791,182 (GRCm39) F254L probably benign Het
Vmn1r120 T C 7: 20,787,556 (GRCm39) K52E probably benign Het
Vmn1r29 C A 6: 58,284,692 (GRCm39) Y137* probably null Het
Vmn2r52 T C 7: 9,893,415 (GRCm39) K575E probably damaging Het
Wdr95 A G 5: 149,475,891 (GRCm39) Y63C probably damaging Het
Other mutations in Cklf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03117:Cklf APN 8 104,984,055 (GRCm39) missense possibly damaging 0.60
R0284:Cklf UTSW 8 104,988,207 (GRCm39) unclassified probably benign
R1673:Cklf UTSW 8 104,983,983 (GRCm39) missense possibly damaging 0.82
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
Predicted Primers PCR Primer
(F):5'- GGTTAGGCTAGACAGGTGTC -3'
(R):5'- CAATGCCTTGCGTCTGGAAAG -3'

Sequencing Primer
(F):5'- TGTCAGCAAGAGTTAGGAACTTAAG -3'
(R):5'- AGGCGTGGCTGGAAACC -3'
Posted On 2014-06-23