Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01593:Cd33'

91651

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 #

IGL01593

Quality Score

Status

Chromosome

Chromosomal Location

43524216-43544428 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43530281 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 241 (L241P)

Ref Sequence

ENSEMBL: ENSMUSP00000146225 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004728
AA Change: L241P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
AA Change: L241P

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

possibly damaging
Transcript: ENSMUST00000039861
AA Change: L241P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609
AA Change: L241P

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

possibly damaging
Transcript: ENSMUST00000205503
AA Change: L241P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205687

Predicted Effect

unknown
Transcript: ENSMUST00000206371
AA Change: L127P

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,557,650	I310N	probably damaging	Het
Ackr4	C	T	9: 104,085,931		probably benign	Het
Ankib1	A	T	5: 3,732,590	D346E	probably benign	Het
Armc4	T	C	18: 7,127,345	K956R	probably benign	Het
Asap2	G	T	12: 21,213,202	A273S	probably null	Het
Atp6v0d2	C	A	4: 19,881,436	R219L	probably damaging	Het
Atp6v1e2	A	T	17: 86,944,299	F224I	probably damaging	Het
Bnc2	T	C	4: 84,276,241		probably null	Het
Btbd11	T	A	10: 85,654,475		probably benign	Het
Clec4g	A	T	8: 3,719,474		probably null	Het
Dym	C	T	18: 75,114,781		probably benign	Het
Enpp5	A	G	17: 44,080,721	T14A	probably benign	Het
Ggt1	T	C	10: 75,585,287		probably null	Het
Gm17541	T	A	12: 4,689,868		probably benign	Het
Gpr39	A	T	1: 125,677,451	I39F	probably benign	Het
Kcnb1	G	T	2: 167,106,207	F240L	probably damaging	Het
Kcnt1	T	A	2: 25,898,754	V400E	probably damaging	Het
Klhdc7a	A	G	4: 139,966,814	I274T	probably damaging	Het
Lrwd1	A	T	5: 136,134,629	L71Q	probably damaging	Het
Mycbp2	A	T	14: 103,291,287		probably null	Het
Nckap1	A	T	2: 80,520,570	M725K	probably benign	Het
Olfr1535	T	A	13: 21,555,219	I268F	probably damaging	Het
Pole2	C	T	12: 69,223,099		probably null	Het
Prss32	A	G	17: 23,856,008	T111A	probably benign	Het
Rgs9	A	G	11: 109,249,049		probably benign	Het
Slc2a4	A	G	11: 69,944,828	C361R	probably damaging	Het
Ston1	G	A	17: 88,637,010	G615R	probably null	Het
Tas2r139	T	G	6: 42,140,957	W8G	probably benign	Het
Tmem101	A	T	11: 102,155,878	L55Q	probably damaging	Het
Tnni3k	T	C	3: 154,941,029		probably null	Het
Uba2	A	G	7: 34,146,264	V478A	probably damaging	Het
Vps13a	T	C	19: 16,762,181	D52G	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
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

2013-12-09