Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00948:Cd33'

27856

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd33

Ensembl Gene

ENSMUSG00000004609

Gene Name

CD33 antigen

Synonyms

Siglec-3, gp67

Accession Numbers

Genbank: NM_001111058.1, NM_021293.3; Ensembl: ENSMUST00000004728, ENSMUST00000039861

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00948

Quality Score

Status

Chromosome

Chromosomal Location

43524216-43544428 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 43529558 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004728] [ENSMUST00000039861] [ENSMUST00000205503]

Predicted Effect

probably benign
Transcript: ENSMUST00000004728

SMART Domains

Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	26	139	2.58e-6	SMART
IG_like	148	232	2.66e1	SMART
transmembrane domain	242	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039861

SMART Domains

Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	26	139	2.58e-6	SMART
IG_like	148	232	2.66e1	SMART
transmembrane domain	242	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205687

Predicted Effect

probably benign
Transcript: ENSMUST00000206371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206977

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene show slight reductions in mean erythrocyte count and hematocrit and increased concentration of blood aspartate aminotransaminase. There is also a hyporesponsiveness to induced peritonitis and a weaker IL-6 response to LPS-induced systemic inflammation. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccl2	A	T	11: 82,035,732	Q24L	possibly damaging	Het
Cmya5	T	C	13: 93,091,036	I2515V	probably benign	Het
Cntnap5b	A	G	1: 100,141,357	T101A	probably benign	Het
Cyp4a12a	T	A	4: 115,301,962	M143K	probably damaging	Het
Ephb4	C	A	5: 137,366,659	S663R	probably damaging	Het
Gm4847	T	C	1: 166,630,338	D482G	probably benign	Het
Gskip	C	A	12: 105,698,844	N47K	probably damaging	Het
Kmt2c	T	C	5: 25,377,161	Y473C	probably benign	Het
Lrrc7	T	A	3: 158,161,557	N849I	probably damaging	Het
Magel2	T	A	7: 62,379,322	V658E	unknown	Het
Nmral1	C	T	16: 4,716,406	G57E	probably damaging	Het
Olfr801	A	T	10: 129,669,887	L211I	probably damaging	Het
Olfr921	C	T	9: 38,775,812	Q186*	probably null	Het
Padi3	C	A	4: 140,788,943	R542L	possibly damaging	Het
Plrg1	T	C	3: 83,068,119	V260A	probably damaging	Het
Prex2	A	G	1: 11,170,614	H982R	probably damaging	Het
Rbm26	T	A	14: 105,150,343	T448S	probably damaging	Het
Ryr1	C	T	7: 29,020,195	M4262I	possibly damaging	Het
Slc41a3	A	T	6: 90,645,714	D441V	probably damaging	Het
Slc7a2	A	G	8: 40,912,524	E448G	probably benign	Het
Smtnl2	C	A	11: 72,411,241		probably null	Het
Tox3	G	A	8: 90,270,434	P66L	probably damaging	Het
Vmn1r19	T	C	6: 57,405,262	F267L	probably benign	Het
Vmn2r12	A	G	5: 109,097,675	S64P	possibly damaging	Het
Zfp764	T	C	7: 127,405,204	S252G	possibly damaging	Het

Other mutations in Cd33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Cd33	APN	7	43532905	missense	probably damaging	1.00
IGL01593:Cd33	APN	7	43530281	missense	possibly damaging	0.91
IGL02080:Cd33	APN	7	43528850	utr 3 prime	probably benign
IGL02519:Cd33	APN	7	43528729	utr 3 prime	probably benign
IGL02626:Cd33	APN	7	43530312	splice site	probably benign
1mM(1):Cd33	UTSW	7	43528793	utr 3 prime	probably benign
R0751:Cd33	UTSW	7	43532121	missense	probably damaging	1.00
R1513:Cd33	UTSW	7	43532194	missense	probably damaging	1.00
R1542:Cd33	UTSW	7	43532106	missense	probably damaging	1.00
R1752:Cd33	UTSW	7	43532298	missense	probably benign	0.24
R1928:Cd33	UTSW	7	43529879	missense	probably benign	0.41
R2045:Cd33	UTSW	7	43529892	missense	probably benign	0.00
R2127:Cd33	UTSW	7	43530275	missense	possibly damaging	0.72
R3433:Cd33	UTSW	7	43529907	missense	probably benign	0.00
R4760:Cd33	UTSW	7	43529495	missense	probably benign
R4810:Cd33	UTSW	7	43532710	missense	probably damaging	0.99
R5387:Cd33	UTSW	7	43532053	nonsense	probably null
R5611:Cd33	UTSW	7	43532118	missense	probably damaging	0.97
R5796:Cd33	UTSW	7	43533056	critical splice donor site	probably null
R8021:Cd33	UTSW	7	43528838	missense	unknown
R8193:Cd33	UTSW	7	43532272	missense	possibly damaging	0.96

Posted On

2013-04-17