Mutagenetix > Incidental Mutation

Incidental Mutation 'R7822:Cklf'

601939

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

045876-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R7822 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104977493-104991570 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 104977729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034342] [ENSMUST00000050211] [ENSMUST00000098464] [ENSMUST00000211809] [ENSMUST00000211995] [ENSMUST00000212209] [ENSMUST00000212275] [ENSMUST00000212410] [ENSMUST00000212433] [ENSMUST00000212939] [ENSMUST00000212854]

AlphaFold

Q9DAS1

Predicted Effect

probably null
Transcript: ENSMUST00000034342

SMART Domains

Protein: ENSMUSP00000034342
Gene: ENSMUSG00000054400

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
Pfam:dNK	58	267	1.2e-67	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098464

SMART Domains

Protein: ENSMUSP00000096064
Gene: ENSMUSG00000054400

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000211809

Predicted Effect

probably benign
Transcript: ENSMUST00000211995

Predicted Effect

probably benign
Transcript: ENSMUST00000212209

Predicted Effect

probably benign
Transcript: ENSMUST00000212275

Predicted Effect

probably benign
Transcript: ENSMUST00000212410

Predicted Effect

probably null
Transcript: ENSMUST00000212433

Predicted Effect

probably null
Transcript: ENSMUST00000212939

Predicted Effect

probably benign
Transcript: ENSMUST00000212854

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,885,524 (GRCm39)	S551L	possibly damaging	Het
Ash1l	T	C	3: 88,914,571 (GRCm39)	S1734P	probably benign	Het
Btnl2	T	A	17: 34,582,288 (GRCm39)	S285T	possibly damaging	Het
Cadm4	A	G	7: 24,202,970 (GRCm39)	D364G	possibly damaging	Het
Card6	T	A	15: 5,128,347 (GRCm39)	K1016N	possibly damaging	Het
Cdh2	G	T	18: 16,757,341 (GRCm39)	N692K	probably benign	Het
Cep76	G	T	18: 67,774,219 (GRCm39)	S9*	probably null	Het
Ctsa	T	C	2: 164,681,152 (GRCm39)	*475R	probably null	Het
Dapk1	A	C	13: 60,873,715 (GRCm39)	D406A	probably benign	Het
Ddx4	A	T	13: 112,748,647 (GRCm39)	V443D	probably damaging	Het
Dph5	C	T	3: 115,693,399 (GRCm39)	Q106*	probably null	Het
Drg2	C	T	11: 60,353,026 (GRCm39)	R220*	probably null	Het
Efcab8	A	T	2: 153,652,832 (GRCm39)	Q509L	unknown	Het
Efs	C	T	14: 55,154,907 (GRCm39)	S444N	probably benign	Het
Evl	T	C	12: 108,614,723 (GRCm39)	V58A	probably damaging	Het
Garin3	A	G	11: 46,295,730 (GRCm39)	N34S		Het
Gbe1	G	A	16: 70,230,500 (GRCm39)	R166H	probably damaging	Het
Gcc1	T	C	6: 28,418,785 (GRCm39)	E516G	probably damaging	Het
Ghr	T	C	15: 3,487,439 (GRCm39)	T15A	probably benign	Het
Gnb4	G	A	3: 32,650,480 (GRCm39)	T50M	probably damaging	Het
Grik3	T	C	4: 125,550,190 (GRCm39)		probably null	Het
Gstk1	T	C	6: 42,224,686 (GRCm39)	Y135H	probably benign	Het
Gucy2c	T	A	6: 136,685,404 (GRCm39)	I846F	probably damaging	Het
Itga7	A	G	10: 128,778,835 (GRCm39)	T321A	probably benign	Het
Jakmip1	A	T	5: 37,332,524 (GRCm39)	N1068I	probably damaging	Het
Krt36	A	G	11: 99,994,966 (GRCm39)	I202T	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Mast2	A	G	4: 116,170,070 (GRCm39)	L741P	probably damaging	Het
Mctp2	T	C	7: 71,776,935 (GRCm39)	N720S	possibly damaging	Het
Mmp9	A	T	2: 164,790,956 (GRCm39)	K115*	probably null	Het
Mtf2	C	T	5: 108,228,743 (GRCm39)	R20*	probably null	Het
Mycbp2	T	G	14: 103,376,851 (GRCm39)	Q3810P	probably benign	Het
Myom2	A	T	8: 15,158,454 (GRCm39)	H802L	probably benign	Het
Naa25	A	G	5: 121,545,276 (GRCm39)	N27D	probably damaging	Het
Necab2	T	C	8: 120,181,103 (GRCm39)	F126L	probably damaging	Het
Nisch	C	G	14: 30,896,608 (GRCm39)		probably benign	Het
Nsd2	T	A	5: 34,000,938 (GRCm39)	S152T	probably damaging	Het
Ntsr1	T	C	2: 180,180,483 (GRCm39)	L263P	probably damaging	Het
Nup210	A	G	6: 90,995,759 (GRCm39)	V922A	possibly damaging	Het
Or12d17	T	A	17: 37,777,994 (GRCm39)	M299K	probably benign	Het
Or5b105	T	A	19: 13,080,417 (GRCm39)	I84F	probably benign	Het
Or5d45	A	C	2: 88,153,425 (GRCm39)	I208S	probably benign	Het
Pccb	C	A	9: 100,909,137 (GRCm39)	C144F	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Prdm1	A	G	10: 44,334,478 (GRCm39)	V16A	probably benign	Het
Prr5	A	C	15: 84,649,933 (GRCm39)	Y219S	probably damaging	Het
Psme4	A	G	11: 30,824,245 (GRCm39)	D1743G	probably benign	Het
Rad21l	G	T	2: 151,497,045 (GRCm39)	D356E	probably benign	Het
Rars1	A	G	11: 35,710,793 (GRCm39)	I322T	probably damaging	Het
Retreg2	C	A	1: 75,123,185 (GRCm39)	P319Q	possibly damaging	Het
Robo2	T	C	16: 73,770,059 (GRCm39)	Y559C	probably damaging	Het
Ror1	T	C	4: 100,298,564 (GRCm39)	Y646H	probably damaging	Het
Rrp15	A	G	1: 186,481,373 (GRCm39)	S45P	probably benign	Het
Sacs	G	C	14: 61,429,652 (GRCm39)	K570N	probably benign	Het
Serpinb8	C	T	1: 107,534,723 (GRCm39)	Q265*	probably null	Het
Sgo2b	T	C	8: 64,380,318 (GRCm39)	E838G	probably damaging	Het
Slc2a12	G	A	10: 22,540,568 (GRCm39)	R141K	probably damaging	Het
Strc	G	T	2: 121,208,219 (GRCm39)	T384N	probably benign	Het
Tcaf2	T	C	6: 42,606,033 (GRCm39)	S547G	possibly damaging	Het
Tekt5	T	C	16: 10,200,792 (GRCm39)	N243S	possibly damaging	Het
Tgm3	A	G	2: 129,883,819 (GRCm39)	I492M	probably benign	Het
Tgm7	G	A	2: 120,934,421 (GRCm39)	T157I	probably benign	Het
Trnp1	C	A	4: 133,225,350 (GRCm39)	R140L	possibly damaging	Het
Ttn	A	G	2: 76,609,777 (GRCm39)	V15797A	probably damaging	Het
Ugp2	A	T	11: 21,283,762 (GRCm39)	S102T	probably benign	Het
Vav2	A	T	2: 27,172,299 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,686,241 (GRCm39)	I59F	probably damaging	Het
Yju2b	T	C	8: 84,988,411 (GRCm39)	E72G	probably damaging	Het
Zfp109	T	C	7: 23,928,570 (GRCm39)	T288A	probably benign	Het
Zscan12	T	A	13: 21,553,374 (GRCm39)	H399Q	probably damaging	Het

Other mutations in Cklf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGTTCTTCTCCGGTCGAACTG -3'

Sequencing Primer
(F):5'- TGTCAGCAAGAGTTAGGAACTTAAG -3'
(R):5'- TGAGCCACAGAGCAATCAATG -3'

Posted On

2019-12-03