Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01918:Cd68'

180019

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd68

Ensembl Gene

ENSMUSG00000018774

Gene Name

CD68 antigen

Synonyms

Lamp4, macrosialin, Scard1, gp110

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

IGL01918

Quality Score

Status

Chromosome

Chromosomal Location

69555039-69556979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69555927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 204 (S204G)

Ref Sequence

ENSEMBL: ENSMUSP00000018918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018905] [ENSMUST00000018918] [ENSMUST00000102589] [ENSMUST00000108654] [ENSMUST00000155200] [ENSMUST00000148242] [ENSMUST00000163666]

AlphaFold

P31996

Predicted Effect

probably benign
Transcript: ENSMUST00000018905

SMART Domains

Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	141	157	N/A	INTRINSIC
CTNS	167	198	5.56e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018918
AA Change: S204G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018918
Gene: ENSMUSG00000018774
AA Change: S204G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Lamp	28	326	5.6e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083928

Predicted Effect

probably benign
Transcript: ENSMUST00000102589

Predicted Effect

probably benign
Transcript: ENSMUST00000108654
AA Change: S213G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104294
Gene: ENSMUSG00000018774
AA Change: S213G

Domain	Start	End	E-Value	Type
Pfam:Lamp	16	335	3.1e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158127

Predicted Effect

probably benign
Transcript: ENSMUST00000155200

SMART Domains

Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125389

SMART Domains

Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
CTNS	39	70	1.69e-6	SMART
low complexity region	89	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148242

SMART Domains

Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	98	109	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129224

SMART Domains

Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
CTNS	54	85	1.69e-6	SMART
low complexity region	138	163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158917

Predicted Effect

probably benign
Transcript: ENSMUST00000163666

SMART Domains

Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796

Domain	Start	End	E-Value	Type
DEXDc	51	249	3.61e-60	SMART
HELICc	286	367	1.04e-33	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced antigen presenting activity in dendritic cells in response to ovalbumin stimulation. Mice homozygous for another knock-out allele exhibit increased bone and dysfunctional osteoclasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,097,098 (GRCm39)	Q71R	probably benign	Het
Ankfy1	T	C	11: 72,631,281 (GRCm39)	V409A	probably benign	Het
Ap4m1	A	G	5: 138,171,106 (GRCm39)	T69A	probably damaging	Het
B3gat2	A	T	1: 23,884,209 (GRCm39)	K306*	probably null	Het
Calr	A	G	8: 85,569,479 (GRCm39)		probably benign	Het
Ccdc54	C	T	16: 50,411,215 (GRCm39)	W17*	probably null	Het
Cep128	A	T	12: 91,200,984 (GRCm39)	I342K	probably damaging	Het
Ces1d	T	A	8: 93,904,703 (GRCm39)	I346L	probably benign	Het
Cfap70	T	A	14: 20,475,467 (GRCm39)	D418V	possibly damaging	Het
Cntnap4	A	T	8: 113,478,866 (GRCm39)	R197S	possibly damaging	Het
Ddx31	G	T	2: 28,764,176 (GRCm39)	V461F	probably damaging	Het
Eps15l1	T	C	8: 73,121,756 (GRCm39)	M714V	possibly damaging	Het
Fshb	A	T	2: 106,889,272 (GRCm39)	F11I	probably benign	Het
Fsip2	T	G	2: 82,822,482 (GRCm39)	C6072G	possibly damaging	Het
Fuz	T	G	7: 44,546,383 (GRCm39)	L93R	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm8991	G	A	5: 16,935,678 (GRCm39)		noncoding transcript	Het
Itga11	C	A	9: 62,680,278 (GRCm39)	N973K	probably benign	Het
Lca5	T	A	9: 83,305,201 (GRCm39)	T202S	probably damaging	Het
Lrp1	G	A	10: 127,390,458 (GRCm39)	L3053F	probably damaging	Het
Mapk13	T	C	17: 28,994,304 (GRCm39)	Y129H	probably damaging	Het
Mast1	T	A	8: 85,647,838 (GRCm39)	H512L	probably damaging	Het
Mlip	T	C	9: 77,081,281 (GRCm39)	N213S	probably damaging	Het
Mtcl1	C	T	17: 66,675,263 (GRCm39)	G734R	possibly damaging	Het
Myo9a	T	A	9: 59,686,985 (GRCm39)	I30N	probably damaging	Het
Or4b13	A	G	2: 90,082,675 (GRCm39)	I219T	probably damaging	Het
Pctp	T	C	11: 89,878,162 (GRCm39)	D124G	probably benign	Het
Phc3	A	G	3: 30,968,565 (GRCm39)		probably null	Het
Plat	T	A	8: 23,270,453 (GRCm39)	F457I	possibly damaging	Het
Snw1	T	C	12: 87,502,438 (GRCm39)	K319E	probably benign	Het
Sox8	A	G	17: 25,789,111 (GRCm39)	L129P	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stc1	A	T	14: 69,269,103 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,241,450 (GRCm39)		probably benign	Het
Tmem81	T	A	1: 132,435,698 (GRCm39)	V168D	probably damaging	Het
Ttc41	C	A	10: 86,549,054 (GRCm39)	Q83K	probably damaging	Het
Ugt1a5	T	C	1: 88,094,267 (GRCm39)	V165A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vps33b	A	G	7: 79,937,560 (GRCm39)		probably null	Het
Zap70	T	C	1: 36,817,868 (GRCm39)	Y290H	possibly damaging	Het

Other mutations in Cd68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Cd68	APN	11	69,556,676 (GRCm39)	missense	probably damaging	1.00
R1474:Cd68	UTSW	11	69,555,754 (GRCm39)	unclassified	probably benign
R1556:Cd68	UTSW	11	69,556,676 (GRCm39)	missense	probably damaging	1.00
R5014:Cd68	UTSW	11	69,556,165 (GRCm39)	missense	probably damaging	1.00
R5397:Cd68	UTSW	11	69,556,484 (GRCm39)	missense	probably benign	0.00
R5656:Cd68	UTSW	11	69,555,247 (GRCm39)	missense	probably damaging	0.96
R7425:Cd68	UTSW	11	69,555,938 (GRCm39)	missense	probably benign	0.30
R7442:Cd68	UTSW	11	69,556,754 (GRCm39)	missense	probably benign	0.01
R9317:Cd68	UTSW	11	69,555,860 (GRCm39)	critical splice donor site	probably null

Posted On

2014-05-07