Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02981:Cd14'

406563

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd14

Ensembl Gene

ENSMUSG00000051439

Gene Name

CD14 antigen

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02981

Quality Score

Status

Chromosome

Chromosomal Location

36858120-36859851 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 36859532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061829]

AlphaFold

P10810

PDB Structure

Crystal structure of CD14 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000061829

SMART Domains

Protein: ENSMUSP00000056669
Gene: ENSMUSG00000051439

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
PDB:1WWL\|B	18	329	N/A	PDB
SCOP:d1fqva2	86	326	1e-9	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that plays an important role in the innate immune response and is expressed in monocyte/macrophage cells. This gene product acts as a co-receptor that binds several microbial and fungal molecules, including lipopolysaccharides (LPS). This proteins LPS-binding activity is enhanced by the LPS binding protein (LBP) to allow binding to the TLR4-MD-2 co-receptor complex. The product of this gene is found in two forms, either as a soluble protein or attached to the cell surface by a glycosylphosphatidylinositol anchor. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice exhibit macrophages with impaired responses to LPS or E.coli, resulting in a reduction or loss of cytokine production. Macrophages also cannot contain vesicular stomatitis virus infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,675,044 (GRCm39)	S392P	probably benign	Het
Adam23	G	A	1: 63,610,112 (GRCm39)	V705I	probably damaging	Het
Ank2	T	G	3: 126,728,211 (GRCm39)	D794A	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aqr	T	C	2: 113,965,305 (GRCm39)		probably benign	Het
Atp9b	A	G	18: 80,797,504 (GRCm39)	V857A	possibly damaging	Het
Banp	T	C	8: 122,705,303 (GRCm39)	Y58H	possibly damaging	Het
Cacna1e	T	A	1: 154,347,171 (GRCm39)	N999Y	probably benign	Het
Crmp1	T	C	5: 37,443,770 (GRCm39)	I447T	probably damaging	Het
Dip2a	A	G	10: 76,112,255 (GRCm39)	V1090A	possibly damaging	Het
Ep400	T	A	5: 110,903,969 (GRCm39)	H210L	possibly damaging	Het
Ep400	T	A	5: 110,839,476 (GRCm39)		probably benign	Het
Fam243	T	C	16: 92,117,757 (GRCm39)	N177S	probably benign	Het
Fbxw26	A	G	9: 109,573,862 (GRCm39)	F97L	probably benign	Het
Fut8	C	A	12: 77,521,812 (GRCm39)	P484T	probably damaging	Het
Golph3	A	G	15: 12,349,550 (GRCm39)	E190G	probably benign	Het
Hectd1	A	T	12: 51,815,670 (GRCm39)	D1472E	possibly damaging	Het
Hnrnpdl	T	C	5: 100,184,958 (GRCm39)	I298V	possibly damaging	Het
Jakmip2	C	A	18: 43,695,595 (GRCm39)		probably null	Het
Kcnj5	G	A	9: 32,233,877 (GRCm39)	T146I	probably damaging	Het
Lyst	T	G	13: 13,809,496 (GRCm39)	F389V	probably damaging	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Myo3b	T	C	2: 69,938,969 (GRCm39)	V114A	probably damaging	Het
Or10a2	C	A	7: 106,673,758 (GRCm39)	T241N	probably damaging	Het
Pappa2	C	T	1: 158,678,714 (GRCm39)	G901R	probably benign	Het
Patz1	T	C	11: 3,240,656 (GRCm39)	Y15H	probably damaging	Het
Pdp2	T	C	8: 105,320,267 (GRCm39)	W39R	probably benign	Het
Poc5	T	C	13: 96,538,265 (GRCm39)		probably null	Het
Pou3f1	A	G	4: 124,552,236 (GRCm39)	D246G	probably damaging	Het
Pramel5	T	A	4: 143,999,430 (GRCm39)	Y219F	probably benign	Het
Prrc2c	C	T	1: 162,532,748 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,676,670 (GRCm39)	K678E	probably damaging	Het
Rps2	T	C	17: 24,940,698 (GRCm39)	F271L	probably benign	Het
Serpina3k	C	A	12: 104,307,250 (GRCm39)	Q161K	probably benign	Het
Serpinb6b	A	G	13: 33,155,589 (GRCm39)	T101A	probably benign	Het
Tprkb	T	A	6: 85,904,861 (GRCm39)	D112E	probably benign	Het
Tubal3	A	G	13: 3,983,257 (GRCm39)	T346A	probably benign	Het
Vwde	A	G	6: 13,193,112 (GRCm39)	F409S	possibly damaging	Het
Zbtb6	G	A	2: 37,319,176 (GRCm39)	Q251*	probably null	Het

Other mutations in Cd14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Cd14	APN	18	36,858,693 (GRCm39)	missense	possibly damaging	0.91
IGL02164:Cd14	APN	18	36,858,838 (GRCm39)	missense	possibly damaging	0.47
IGL02237:Cd14	APN	18	36,858,912 (GRCm39)	missense	probably damaging	1.00
IGL02834:Cd14	APN	18	36,858,556 (GRCm39)	missense	probably benign	0.13
heedless	UTSW	18	36,858,604 (GRCm39)	missense	probably benign	0.01
R0034:Cd14	UTSW	18	36,859,288 (GRCm39)	missense	probably benign
R1487:Cd14	UTSW	18	36,858,537 (GRCm39)	missense	probably benign	0.00
R1612:Cd14	UTSW	18	36,858,718 (GRCm39)	nonsense	probably null
R1754:Cd14	UTSW	18	36,858,567 (GRCm39)	missense	probably damaging	1.00
R1773:Cd14	UTSW	18	36,858,357 (GRCm39)	missense	possibly damaging	0.59
R1964:Cd14	UTSW	18	36,859,392 (GRCm39)	missense	probably damaging	1.00
R5579:Cd14	UTSW	18	36,859,288 (GRCm39)	missense	probably benign
R6006:Cd14	UTSW	18	36,859,335 (GRCm39)	missense	possibly damaging	0.51
R6114:Cd14	UTSW	18	36,859,006 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02