Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02519:Cd33'

296904

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 #

IGL02519

Quality Score

Status

Chromosome

Chromosomal Location

43524216-43544428 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to T at 43528729 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,895,315	E370G	probably damaging	Het
Adamts13	A	T	2: 26,978,675	I224F	probably damaging	Het
Adamts17	A	G	7: 67,124,973	T947A	possibly damaging	Het
Ankfn1	T	C	11: 89,405,678	E75G	probably benign	Het
Arfgef1	G	T	1: 10,209,668	H225N	probably benign	Het
Arsi	A	G	18: 60,917,067	S341G	probably damaging	Het
Aspm	T	A	1: 139,461,927		probably benign	Het
Cacna1i	C	T	15: 80,361,874	R490*	probably null	Het
Clmn	T	C	12: 104,791,853	I135V	probably damaging	Het
Crebbp	A	T	16: 4,101,593	N795K	possibly damaging	Het
Dhps	A	G	8: 85,073,299	D126G	probably damaging	Het
Dlg2	G	T	7: 91,940,115	V196L	possibly damaging	Het
Dsg1c	T	A	18: 20,283,733	I897N	probably damaging	Het
Dzip3	A	G	16: 48,928,396	L1059S	probably damaging	Het
Epha7	A	T	4: 28,821,494	T220S	possibly damaging	Het
Fgf17	A	G	14: 70,638,528	I88T	probably damaging	Het
G3bp2	A	G	5: 92,066,524	V137A	possibly damaging	Het
Gnal	G	A	18: 67,088,765	E80K	unknown	Het
Hectd1	T	G	12: 51,769,111	S1393R	probably damaging	Het
Igsf6	T	C	7: 121,068,273	I173M	possibly damaging	Het
Il2ra	A	C	2: 11,683,090	E227A	possibly damaging	Het
Iqcf6	C	T	9: 106,627,280	R48C	probably damaging	Het
Kdm3a	G	T	6: 71,611,586	Q480K	probably benign	Het
Larp4b	C	A	13: 9,158,580	A423E	probably benign	Het
Magea6	T	C	X: 154,924,745	D105G	probably benign	Het
Nop53	C	A	7: 15,939,272		probably benign	Het
Olfr307	A	T	7: 86,335,581	F272I	probably benign	Het
Olfr338	T	C	2: 36,377,313	L179P	possibly damaging	Het
Pgghg	A	G	7: 140,944,981	T352A	possibly damaging	Het
Setd2	T	C	9: 110,553,116	S1464P	probably damaging	Het
Sspo	C	A	6: 48,484,828	T3609N	probably damaging	Het
Sulf1	T	A	1: 12,838,363	Y533*	probably null	Het
Thsd7b	A	G	1: 129,613,195	S346G	probably benign	Het
Tmem161b	T	A	13: 84,294,744	L261Q	probably damaging	Het
Tmem63b	T	A	17: 45,665,208	T493S	possibly damaging	Het
Tmprss11d	A	T	5: 86,306,305	C214S	probably damaging	Het
Trim16	A	T	11: 62,834,079	E144V	possibly damaging	Het
Unc13d	T	C	11: 116,070,533	Y356C	probably damaging	Het
Urgcp	A	T	11: 5,717,745	F198I	probably benign	Het
Vmn2r111	T	C	17: 22,548,339	I726V	possibly damaging	Het
Zzz3	A	T	3: 152,427,390	E28D	probably damaging	Het

Other mutations in Cd33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Cd33	APN	7	43529558	intron	probably benign
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
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

2015-04-16