Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01025:Cd33'

60053

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd33

Ensembl Gene

ENSMUSG00000004609

Gene Name

CD33 molecule

Synonyms

Siglec-3, gp67

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01025

Quality Score

Status

Chromosome

Chromosomal Location

43176823-43186679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43182329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 39 (V39M)

Ref Sequence

ENSEMBL: ENSMUSP00000146225 (fasta)

Gene Model

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

AlphaFold

Q63994

Predicted Effect

probably damaging
Transcript: ENSMUST00000004728
AA Change: V39M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
AA Change: V39M

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 damaging
Transcript: ENSMUST00000039861
AA Change: V39M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609
AA Change: V39M

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 damaging
Transcript: ENSMUST00000205503
AA Change: V39M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	G	A	4: 155,986,676 (GRCm39)	V335M	probably damaging	Het
Apex1	C	T	14: 51,163,711 (GRCm39)	L113F	possibly damaging	Het
Bltp1	T	A	3: 37,100,429 (GRCm39)	H1218Q	possibly damaging	Het
Chek2	A	G	5: 110,996,536 (GRCm39)	D166G	probably damaging	Het
Col2a1	T	C	15: 97,874,054 (GRCm39)	K1376R	unknown	Het
Cpd	C	T	11: 76,686,439 (GRCm39)	R963H	probably damaging	Het
Cracd	A	G	5: 76,805,921 (GRCm39)		probably benign	Het
Cyp2c67	A	C	19: 39,628,376 (GRCm39)	Y189*	probably null	Het
Dock6	T	C	9: 21,723,103 (GRCm39)	E1606G	possibly damaging	Het
Dusp4	A	T	8: 35,285,666 (GRCm39)	E309V	probably benign	Het
Dync2h1	A	G	9: 7,162,789 (GRCm39)	I600T	probably damaging	Het
Fer1l4	A	G	2: 155,894,105 (GRCm39)	V66A	probably benign	Het
Fktn	T	C	4: 53,737,568 (GRCm39)	L269P	possibly damaging	Het
Ftsj3	A	G	11: 106,141,185 (GRCm39)	I645T	probably damaging	Het
Fxr2	A	G	11: 69,534,713 (GRCm39)	H198R	probably damaging	Het
Fzd7	T	C	1: 59,523,539 (GRCm39)	V474A	probably damaging	Het
Gm10295	T	A	7: 71,000,406 (GRCm39)	D58V	unknown	Het
Hdlbp	T	C	1: 93,357,891 (GRCm39)	I337V	probably benign	Het
Hydin	T	C	8: 111,053,033 (GRCm39)	V235A	probably benign	Het
Igfbp4	C	T	11: 98,939,069 (GRCm39)	H30Y	probably damaging	Het
Kcna4	T	C	2: 107,126,736 (GRCm39)	V490A	probably damaging	Het
Kcnj13	T	G	1: 87,314,700 (GRCm39)	D174A	probably benign	Het
Krt7	T	A	15: 101,321,302 (GRCm39)	L373Q	probably benign	Het
Lama3	G	A	18: 12,614,094 (GRCm39)	V1288I	probably benign	Het
Mroh9	T	C	1: 162,875,435 (GRCm39)	D488G	possibly damaging	Het
Myh7	T	C	14: 55,216,994 (GRCm39)	E1121G	probably damaging	Het
Myom1	A	G	17: 71,384,912 (GRCm39)	N768D	probably damaging	Het
Naa16	T	C	14: 79,622,196 (GRCm39)	T48A	probably damaging	Het
Naglu	C	T	11: 100,964,773 (GRCm39)	P287S	probably benign	Het
Nipbl	A	G	15: 8,379,939 (GRCm39)	V951A	possibly damaging	Het
Nlrp3	T	A	11: 59,442,713 (GRCm39)	M755K	probably benign	Het
Nlrp4e	T	C	7: 23,052,586 (GRCm39)		probably benign	Het
Nt5dc1	C	T	10: 34,283,553 (GRCm39)	A79T	possibly damaging	Het
Or10aa3	T	C	1: 173,878,251 (GRCm39)	F104S	probably damaging	Het
Or6c205	A	T	10: 129,086,609 (GRCm39)	I69F	possibly damaging	Het
Or8b47	A	G	9: 38,435,029 (GRCm39)		probably benign	Het
Otof	A	G	5: 30,541,597 (GRCm39)	L774P	possibly damaging	Het
Phf20l1	C	T	15: 66,484,981 (GRCm39)	R322C	probably damaging	Het
Pkhd1	C	T	1: 20,279,400 (GRCm39)	G2973R	probably benign	Het
Plekhg5	G	T	4: 152,192,983 (GRCm39)	D613Y	probably damaging	Het
Ppm1h	T	A	10: 122,714,534 (GRCm39)		probably null	Het
Pramel31	T	A	4: 144,089,947 (GRCm39)	L329Q	probably damaging	Het
Prpf39	T	C	12: 65,089,255 (GRCm39)		probably benign	Het
Rtn3	A	G	19: 7,460,406 (GRCm39)	S15P	unknown	Het
Slc22a28	G	T	19: 8,094,272 (GRCm39)		probably benign	Het
Slc4a5	T	A	6: 83,239,515 (GRCm39)	L143Q	probably damaging	Het
Sox17	T	C	1: 4,562,426 (GRCm39)	D130G	possibly damaging	Het
Stag1	A	G	9: 100,833,710 (GRCm39)	T1108A	possibly damaging	Het
Sugp2	G	A	8: 70,695,185 (GRCm39)	D53N	probably damaging	Het
Trim33	G	A	3: 103,261,234 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,629,568 (GRCm39)	I14291T	probably damaging	Het
Ttn	A	G	2: 76,619,869 (GRCm39)	V15933A	probably damaging	Het
Tulp3	A	C	6: 128,302,847 (GRCm39)	I324S	probably damaging	Het
Zfhx2	T	C	14: 55,301,717 (GRCm39)	E2089G	probably damaging	Het
Zhx1	T	C	15: 57,918,075 (GRCm39)	D57G	probably benign	Het

Other mutations in Cd33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Cd33	APN	7	43,178,982 (GRCm39)	intron	probably benign
IGL01593:Cd33	APN	7	43,179,705 (GRCm39)	missense	possibly damaging	0.91
IGL02080:Cd33	APN	7	43,178,274 (GRCm39)	utr 3 prime	probably benign
IGL02519:Cd33	APN	7	43,178,153 (GRCm39)	utr 3 prime	probably benign
IGL02626:Cd33	APN	7	43,179,736 (GRCm39)	splice site	probably benign
1mM(1):Cd33	UTSW	7	43,178,217 (GRCm39)	utr 3 prime	probably benign
R0751:Cd33	UTSW	7	43,181,545 (GRCm39)	missense	probably damaging	1.00
R1513:Cd33	UTSW	7	43,181,618 (GRCm39)	missense	probably damaging	1.00
R1542:Cd33	UTSW	7	43,181,530 (GRCm39)	missense	probably damaging	1.00
R1752:Cd33	UTSW	7	43,181,722 (GRCm39)	missense	probably benign	0.24
R1928:Cd33	UTSW	7	43,179,303 (GRCm39)	missense	probably benign	0.41
R2045:Cd33	UTSW	7	43,179,316 (GRCm39)	missense	probably benign	0.00
R2127:Cd33	UTSW	7	43,179,699 (GRCm39)	missense	possibly damaging	0.72
R3433:Cd33	UTSW	7	43,179,331 (GRCm39)	missense	probably benign	0.00
R4760:Cd33	UTSW	7	43,178,919 (GRCm39)	missense	probably benign
R4810:Cd33	UTSW	7	43,182,134 (GRCm39)	missense	probably damaging	0.99
R5387:Cd33	UTSW	7	43,181,477 (GRCm39)	nonsense	probably null
R5611:Cd33	UTSW	7	43,181,542 (GRCm39)	missense	probably damaging	0.97
R5796:Cd33	UTSW	7	43,182,480 (GRCm39)	critical splice donor site	probably null
R8021:Cd33	UTSW	7	43,178,262 (GRCm39)	missense	unknown
R8193:Cd33	UTSW	7	43,181,696 (GRCm39)	missense	possibly damaging	0.96
R8993:Cd33	UTSW	7	43,182,871 (GRCm39)	unclassified	probably benign
R9495:Cd33	UTSW	7	43,182,150 (GRCm39)	missense	probably benign	0.09
R9514:Cd33	UTSW	7	43,182,150 (GRCm39)	missense	probably benign	0.09
R9590:Cd33	UTSW	7	43,179,637 (GRCm39)	missense	probably benign	0.00

Posted On

2013-07-11