Mutagenetix > Incidental Mutation

Incidental Mutation 'R6239:Sele'

505094

Institutional Source

Beutler Lab

Gene Symbol

Sele

Ensembl Gene

ENSMUSG00000026582

Gene Name

selectin, endothelial cell

Synonyms

Elam, CD62E, E-selectin

MMRRC Submission

044363-MU

Accession Numbers

Essential gene?

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

Stock #

R6239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163875773-163885246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163878377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 239 (S239G)

Ref Sequence

ENSEMBL: ENSMUSP00000027874 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027874
AA Change: S239G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027874
Gene: ENSMUSG00000026582
AA Change: S239G

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

Meta Mutation Damage Score

0.6168

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	A	1: 78,674,182 (GRCm39)	S373T	probably benign	Het
Aox1	G	A	1: 58,344,550 (GRCm39)		probably null	Het
Apol7c	T	C	15: 77,410,631 (GRCm39)	E105G	probably benign	Het
B4galnt2	C	T	11: 95,767,065 (GRCm39)	A184T	probably damaging	Het
Castor1	A	G	11: 4,168,967 (GRCm39)	T45A	possibly damaging	Het
Casz1	A	G	4: 149,022,734 (GRCm39)	Q600R	probably damaging	Het
Cep152	A	T	2: 125,421,332 (GRCm39)	S1133T	probably benign	Het
Cep295	T	C	9: 15,233,927 (GRCm39)	I2290V	possibly damaging	Het
Clmn	A	T	12: 104,747,104 (GRCm39)	H814Q	probably benign	Het
Creb3l1	A	G	2: 91,825,748 (GRCm39)	C124R	probably damaging	Het
Cspg4	A	G	9: 56,795,466 (GRCm39)	D1067G	probably benign	Het
Cyp1a1	T	A	9: 57,609,361 (GRCm39)	V354E	probably benign	Het
Cyp2t4	A	T	7: 26,856,900 (GRCm39)	Q280L	possibly damaging	Het
Dcaf6	A	T	1: 165,178,839 (GRCm39)	D563E	possibly damaging	Het
Dennd2a	A	G	6: 39,465,750 (GRCm39)	F607L	probably damaging	Het
Dennd2d	T	A	3: 106,402,193 (GRCm39)	F288I	probably damaging	Het
Dnah8	C	T	17: 31,029,333 (GRCm39)	R4101C	probably damaging	Het
Dnai4	A	C	4: 102,923,640 (GRCm39)	N396K	probably benign	Het
Dnase2a	G	T	8: 85,635,508 (GRCm39)		probably null	Het
Dnmbp	C	T	19: 43,836,624 (GRCm39)	V1235I	probably benign	Het
Eml6	T	C	11: 29,699,275 (GRCm39)	D1826G	probably damaging	Het
Fam186b	T	C	15: 99,178,315 (GRCm39)	Y337C	probably benign	Het
Flg2	A	T	3: 93,108,579 (GRCm39)	E202D	probably benign	Het
Fus	C	T	7: 127,580,606 (GRCm39)	R228C	possibly damaging	Het
Gbf1	A	G	19: 46,248,135 (GRCm39)	E304G	probably benign	Het
Ggt1	A	G	10: 75,421,515 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,245,918 (GRCm39)	D354V	probably damaging	Het
Hdac4	T	C	1: 91,982,694 (GRCm39)	D8G	probably benign	Het
Hhat	A	T	1: 192,277,395 (GRCm39)	Y355N	probably damaging	Het
Ift140	T	C	17: 25,247,946 (GRCm39)	V268A	probably benign	Het
Il4i1	A	G	7: 44,489,836 (GRCm39)	R542G	probably benign	Het
Itga2b	C	T	11: 102,356,144 (GRCm39)	V328I	possibly damaging	Het
Kmt2a	T	C	9: 44,731,093 (GRCm39)		probably benign	Het
Lrit3	A	T	3: 129,593,995 (GRCm39)	I194N	probably damaging	Het
Mast4	A	G	13: 102,872,717 (GRCm39)	L2025P	probably benign	Het
Neb	T	C	2: 52,164,000 (GRCm39)	N1986S	probably benign	Het
Osbpl7	G	A	11: 96,943,650 (GRCm39)		probably null	Het
Pabpc2	T	A	18: 39,906,891 (GRCm39)	L52Q	probably damaging	Het
Pald1	T	C	10: 61,156,910 (GRCm39)	S847G	possibly damaging	Het
Pcdh12	T	C	18: 38,415,454 (GRCm39)	D557G	probably damaging	Het
Prmt2	A	T	10: 76,058,425 (GRCm39)	L128*	probably null	Het
Ptpn3	C	A	4: 57,249,981 (GRCm39)	A172S	probably benign	Het
Ptpro	A	T	6: 137,357,606 (GRCm39)	T366S	probably benign	Het
Reg4	A	G	3: 98,138,600 (GRCm39)	K100R	probably null	Het
Rims2	A	T	15: 39,061,758 (GRCm39)	M1L	unknown	Het
Slc11a1	G	A	1: 74,423,274 (GRCm39)	R375Q	possibly damaging	Het
Slc13a3	T	C	2: 165,248,617 (GRCm39)	T554A	unknown	Het
Snw1	A	T	12: 87,511,398 (GRCm39)	N84K	probably damaging	Het
Stpg4	T	C	17: 87,718,667 (GRCm39)	Y171C	probably benign	Het
Styxl2	A	T	1: 165,926,388 (GRCm39)	S1075T	probably damaging	Het
Tmem222	T	A	4: 132,995,606 (GRCm39)	H147L	probably damaging	Het
Tmprss11f	G	T	5: 86,681,636 (GRCm39)	R206S	probably damaging	Het
Trappc11	G	A	8: 47,982,529 (GRCm39)	T70M	possibly damaging	Het
Trpv4	G	A	5: 114,782,887 (GRCm39)	T25I	probably benign	Het
Ttr	T	C	18: 20,806,692 (GRCm39)	V114A	possibly damaging	Het
Umod	C	T	7: 119,076,520 (GRCm39)	C82Y	probably damaging	Het
Upk3a	T	A	15: 84,905,515 (GRCm39)	M208K	probably damaging	Het
Vmn1r59	G	A	7: 5,457,539 (GRCm39)	P74S	probably damaging	Het
Vwa3a	A	T	7: 120,393,457 (GRCm39)	R851S	probably benign	Het
Zfp236	G	T	18: 82,675,229 (GRCm39)	T421K	possibly damaging	Het
Zswim9	C	A	7: 12,995,257 (GRCm39)	G300*	probably null	Het

Other mutations in Sele

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Sele	APN	1	163,879,403 (GRCm39)	missense	probably damaging	1.00
IGL02097:Sele	APN	1	163,880,662 (GRCm39)	missense	probably benign	0.02
IGL02243:Sele	APN	1	163,880,537 (GRCm39)	missense	probably benign	0.01
IGL02688:Sele	APN	1	163,877,699 (GRCm39)	missense	probably damaging	1.00
IGL03022:Sele	APN	1	163,882,248 (GRCm39)	missense	probably benign	0.01
R0433:Sele	UTSW	1	163,876,813 (GRCm39)	missense	possibly damaging	0.74
R0487:Sele	UTSW	1	163,881,184 (GRCm39)	nonsense	probably null
R0678:Sele	UTSW	1	163,882,298 (GRCm39)	critical splice donor site	probably null
R1295:Sele	UTSW	1	163,878,379 (GRCm39)	missense	probably damaging	1.00
R1296:Sele	UTSW	1	163,878,379 (GRCm39)	missense	probably damaging	1.00
R1532:Sele	UTSW	1	163,881,420 (GRCm39)	missense	probably benign	0.29
R1730:Sele	UTSW	1	163,882,192 (GRCm39)	missense	probably benign
R2102:Sele	UTSW	1	163,881,395 (GRCm39)	missense	probably damaging	1.00
R2384:Sele	UTSW	1	163,878,344 (GRCm39)	missense	probably benign	0.00
R3001:Sele	UTSW	1	163,881,140 (GRCm39)	missense	probably damaging	1.00
R3002:Sele	UTSW	1	163,881,140 (GRCm39)	missense	probably damaging	1.00
R5851:Sele	UTSW	1	163,877,143 (GRCm39)	missense	probably benign	0.06
R6164:Sele	UTSW	1	163,879,386 (GRCm39)	splice site	probably null
R6406:Sele	UTSW	1	163,878,312 (GRCm39)	missense	probably damaging	1.00
R6411:Sele	UTSW	1	163,876,984 (GRCm39)	missense	probably benign	0.03
R6731:Sele	UTSW	1	163,881,242 (GRCm39)	missense	probably damaging	1.00
R6851:Sele	UTSW	1	163,881,521 (GRCm39)	missense	probably damaging	1.00
R7291:Sele	UTSW	1	163,881,437 (GRCm39)	missense	possibly damaging	0.89
R7328:Sele	UTSW	1	163,876,844 (GRCm39)	missense	probably benign	0.23
R7366:Sele	UTSW	1	163,876,288 (GRCm39)	missense	probably benign	0.00
R7393:Sele	UTSW	1	163,881,492 (GRCm39)	missense	probably benign	0.05
R7431:Sele	UTSW	1	163,879,189 (GRCm39)	missense	probably damaging	0.99
R7603:Sele	UTSW	1	163,877,084 (GRCm39)	missense	probably damaging	1.00
R7803:Sele	UTSW	1	163,878,263 (GRCm39)	missense	possibly damaging	0.88
R7807:Sele	UTSW	1	163,881,462 (GRCm39)	missense	probably benign	0.05
R8323:Sele	UTSW	1	163,879,207 (GRCm39)	missense	possibly damaging	0.59
R9018:Sele	UTSW	1	163,881,248 (GRCm39)	missense	probably damaging	1.00
R9310:Sele	UTSW	1	163,876,975 (GRCm39)	missense	probably benign	0.04
R9630:Sele	UTSW	1	163,879,523 (GRCm39)	missense	probably damaging	0.99
X0005:Sele	UTSW	1	163,876,912 (GRCm39)	missense	probably damaging	1.00
X0021:Sele	UTSW	1	163,881,180 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GAGATGAGCAGACGTGTGTC -3'
(R):5'- TTATGCGTCACCAGGATCTC -3'

Sequencing Primer
(F):5'- TTTGTTTGATTTTTCAGCTGTGAC -3'
(R):5'- TGCGTCACCAGGATCTCAGAAATAC -3'

Posted On

2018-02-28