Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00233:Sele'

306839

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sele

Ensembl Gene

ENSMUSG00000026582

Gene Name

selectin, endothelial cell

Synonyms

CD62E, E-selectin, Elam

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL00233

Quality Score

Status

Chromosome

Chromosomal Location

164048234-164057677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 164051834 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 312 (C312Y)

Ref Sequence

ENSEMBL: ENSMUSP00000027874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027874]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027874
AA Change: C312Y

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

SMART Domains

Protein: ENSMUSP00000027874
Gene: ENSMUSG00000026582
AA Change: C312Y

Domain	Start	End	E-Value	Type
CLECT	21	146	1.45e-21	SMART
EGF	149	182	2.83e-5	SMART
CCP	187	245	1.49e-9	SMART
CCP	250	307	5.43e-12	SMART
CCP	312	370	1.82e-13	SMART
CCP	375	433	1.36e-12	SMART
CCP	438	496	6e-14	SMART
CCP	501	555	1.39e-9	SMART
transmembrane domain	565	587	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit mild defects in neutrophil infiltration during inflammatory responses. When combined with other selectin gene knockouts, more severe defects are present. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aimp1	A	T	3: 132,677,143		probably benign	Het
Arpc5	A	G	1: 152,768,907	I64V	probably benign	Het
C030048H21Rik	G	A	2: 26,256,620	R1227W	probably damaging	Het
Cacnb1	T	C	11: 98,022,364	E21G	possibly damaging	Het
Catsper3	A	G	13: 55,798,822	K111E	possibly damaging	Het
Cda	T	C	4: 138,367,846	Y33C	probably damaging	Het
Celsr3	A	T	9: 108,848,925	R3118W	probably damaging	Het
Clvs1	G	A	4: 9,281,939	G128R	probably damaging	Het
Col9a1	A	G	1: 24,185,225	S163G	unknown	Het
Cyp4v3	T	C	8: 45,307,003	D64G	probably benign	Het
Dst	C	A	1: 34,251,839	L837M	probably damaging	Het
Eif2ak4	T	A	2: 118,464,055	I1349N	probably damaging	Het
Elob	C	A	17: 23,824,980		probably null	Het
Glipr1	T	A	10: 111,985,650	I216L	probably benign	Het
Gm3238	C	T	10: 77,771,292		probably benign	Het
Gm43638	C	T	5: 87,460,399	R527H	probably damaging	Het
H2-M11	A	G	17: 36,547,553	K80E	probably benign	Het
Htt	A	G	5: 34,896,026		probably null	Het
Kif26a	A	G	12: 112,157,632	S224G	probably damaging	Het
Mgat5b	T	A	11: 116,931,662	M74K	probably damaging	Het
Ms4a7	A	T	19: 11,322,360	V89D	probably damaging	Het
Nlrx1	G	A	9: 44,264,068	T137I	probably benign	Het
Pcdhb12	A	G	18: 37,436,982	T394A	probably benign	Het
Pkhd1l1	T	C	15: 44,477,586	I151T	probably damaging	Het
Plcl1	T	C	1: 55,406,536	V50A	probably benign	Het
Prkd2	T	C	7: 16,865,862	F750S	probably damaging	Het
Psmd13	T	C	7: 140,897,621	V311A	probably damaging	Het
Rec8	C	T	14: 55,623,515	Q334*	probably null	Het
Rfx7	G	A	9: 72,607,690	V157I	probably damaging	Het
Sorcs3	A	G	19: 48,748,319	T694A	probably benign	Het
Tma16	G	T	8: 66,480,445	Q95K	probably benign	Het
Vmn1r191	T	C	13: 22,178,720	D288G	probably damaging	Het
Vmn1r231	A	T	17: 20,890,566	I29N	possibly damaging	Het
Vmn2r1	T	A	3: 64,104,968	L750*	probably null	Het

Other mutations in Sele

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Sele	APN	1	164053093	missense	probably benign	0.02
IGL02243:Sele	APN	1	164052968	missense	probably benign	0.01
IGL02688:Sele	APN	1	164050130	missense	probably damaging	1.00
IGL03022:Sele	APN	1	164054679	missense	probably benign	0.01
R0433:Sele	UTSW	1	164049244	missense	possibly damaging	0.74
R0487:Sele	UTSW	1	164053615	nonsense	probably null
R0678:Sele	UTSW	1	164054729	critical splice donor site	probably null
R1295:Sele	UTSW	1	164050810	missense	probably damaging	1.00
R1296:Sele	UTSW	1	164050810	missense	probably damaging	1.00
R1532:Sele	UTSW	1	164053851	missense	probably benign	0.29
R1730:Sele	UTSW	1	164054623	missense	probably benign
R2102:Sele	UTSW	1	164053826	missense	probably damaging	1.00
R2384:Sele	UTSW	1	164050775	missense	probably benign	0.00
R3001:Sele	UTSW	1	164053571	missense	probably damaging	1.00
R3002:Sele	UTSW	1	164053571	missense	probably damaging	1.00
R5851:Sele	UTSW	1	164049574	missense	probably benign	0.06
R6164:Sele	UTSW	1	164051817	splice site	probably null
R6239:Sele	UTSW	1	164050808	missense	probably damaging	0.98
R6406:Sele	UTSW	1	164050743	missense	probably damaging	1.00
R6411:Sele	UTSW	1	164049415	missense	probably benign	0.03
R6731:Sele	UTSW	1	164053673	missense	probably damaging	1.00
R6851:Sele	UTSW	1	164053952	missense	probably damaging	1.00
R7291:Sele	UTSW	1	164053868	missense	possibly damaging	0.89
R7328:Sele	UTSW	1	164049275	missense	probably benign	0.23
R7366:Sele	UTSW	1	164048719	missense	probably benign	0.00
R7393:Sele	UTSW	1	164053923	missense	probably benign	0.05
R7431:Sele	UTSW	1	164051620	missense	probably damaging	0.99
R7603:Sele	UTSW	1	164049515	missense	probably damaging	1.00
R7803:Sele	UTSW	1	164050694	missense	possibly damaging	0.88
R7807:Sele	UTSW	1	164053893	missense	probably benign	0.05
R8323:Sele	UTSW	1	164051638	missense	possibly damaging	0.59
X0005:Sele	UTSW	1	164049343	missense	probably damaging	1.00
X0021:Sele	UTSW	1	164053611	missense	possibly damaging	0.88

Posted On

2015-04-16