Mutagenetix > Incidental Mutation

Incidental Mutation 'R5851:Sele'

454646

Institutional Source

Beutler Lab

Gene Symbol

Sele

Ensembl Gene

ENSMUSG00000026582

Gene Name

selectin, endothelial cell

Synonyms

Elam, CD62E, E-selectin

MMRRC Submission

044067-MU

Accession Numbers

Essential gene?

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

Stock #

R5851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163875773-163885246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163877143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 140 (K140E)

Ref Sequence

ENSEMBL: ENSMUSP00000027874 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027874
AA Change: K140E

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027874
Gene: ENSMUSG00000026582
AA Change: K140E

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

0.1728

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,332,322 (GRCm39)	N1452D	possibly damaging	Het
Abhd15	T	C	11: 77,409,273 (GRCm39)	L329P	probably benign	Het
Add3	T	C	19: 53,225,205 (GRCm39)	S442P	probably damaging	Het
Arhgef18	T	C	8: 3,484,980 (GRCm39)	F228L	probably damaging	Het
Bptf	A	T	11: 107,001,688 (GRCm39)	Y475N	probably damaging	Het
C3	T	C	17: 57,518,612 (GRCm39)	N1257S	probably null	Het
Cdkl1	A	T	12: 69,803,338 (GRCm39)	Y179*	probably null	Het
Ceacam1	T	C	7: 25,174,025 (GRCm39)	N210S	possibly damaging	Het
Celf3	T	A	3: 94,386,433 (GRCm39)	I7N	probably damaging	Het
Clxn	T	A	16: 14,738,300 (GRCm39)	L155H	probably damaging	Het
Cmpk1	A	G	4: 114,844,167 (GRCm39)	V55A	possibly damaging	Het
Csrnp1	C	T	9: 119,802,144 (GRCm39)	G305D	possibly damaging	Het
Dnah3	A	G	7: 119,638,585 (GRCm39)	S1266P	possibly damaging	Het
Edc4	T	C	8: 106,617,499 (GRCm39)	L1077P	probably damaging	Het
Fam174a	G	A	1: 95,252,868 (GRCm39)	G157S	probably damaging	Het
Fubp3	T	A	2: 31,488,622 (GRCm39)	D159E	probably benign	Het
Garem2	C	T	5: 30,319,288 (GRCm39)	T250M	probably damaging	Het
H2-Eb1	C	T	17: 34,528,745 (GRCm39)	P92L	probably benign	Het
Ifnl3	G	T	7: 28,222,936 (GRCm39)	C69F	probably damaging	Het
Itga2b	C	A	11: 102,348,427 (GRCm39)		probably benign	Het
Klhl33	A	T	14: 51,130,335 (GRCm39)	D386E	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Loricrin	G	A	3: 91,987,846 (GRCm39)	A480V	unknown	Het
Msh3	G	T	13: 92,352,030 (GRCm39)	Q1041K	probably benign	Het
Mtrex	G	A	13: 113,045,486 (GRCm39)	R349W	probably damaging	Het
Myo1e	G	A	9: 70,291,086 (GRCm39)	G959E	probably benign	Het
Nfat5	G	T	8: 108,074,359 (GRCm39)	V338L	probably damaging	Het
Nrf1	A	G	6: 30,089,975 (GRCm39)	H18R	possibly damaging	Het
Nup160	A	G	2: 90,537,382 (GRCm39)	D752G	probably benign	Het
Obscn	A	T	11: 58,885,526 (GRCm39)	L2489*	probably null	Het
Or4p22	A	G	2: 88,317,204 (GRCm39)	I43V	possibly damaging	Het
Or51q1c	A	G	7: 103,652,659 (GRCm39)	E59G	probably benign	Het
Paip1	T	C	13: 119,577,301 (GRCm39)	S215P	possibly damaging	Het
Pate2	T	A	9: 35,581,797 (GRCm39)	Y26*	probably null	Het
Pcdhb10	A	G	18: 37,545,811 (GRCm39)	I296V	probably benign	Het
Pdzph1	T	G	17: 59,280,741 (GRCm39)	T514P	probably benign	Het
Pnlip	G	A	19: 58,662,224 (GRCm39)	W123*	probably null	Het
Prmt2	C	A	10: 76,072,574 (GRCm39)	C9F	possibly damaging	Het
Rbl1	T	A	2: 157,009,245 (GRCm39)	K763N	probably benign	Het
Rfk	C	T	19: 17,372,562 (GRCm39)	A28V	probably damaging	Het
Scart1	C	T	7: 139,807,940 (GRCm39)	P704S	possibly damaging	Het
Sdk1	G	A	5: 141,948,424 (GRCm39)	V590I	probably benign	Het
Sla	G	A	15: 66,655,572 (GRCm39)	T189I	probably damaging	Het
Slc46a2	A	G	4: 59,913,906 (GRCm39)	V339A	probably damaging	Het
Slc5a9	A	G	4: 111,742,797 (GRCm39)	F432L	probably benign	Het
Slc6a19	A	G	13: 73,839,859 (GRCm39)	F141S	possibly damaging	Het
Tas2r123	T	C	6: 132,824,271 (GRCm39)	L56S	probably damaging	Het
Tektip1	A	T	10: 81,200,711 (GRCm39)		probably null	Het
Tmem245	T	C	4: 56,916,770 (GRCm39)	I53V	probably benign	Het
Tor2a	A	T	2: 32,651,619 (GRCm39)	Q278L	probably benign	Het
Trav6-3	A	G	14: 53,667,572 (GRCm39)	M15V	probably benign	Het
Ttc28	G	A	5: 111,383,335 (GRCm39)		probably benign	Het
Ubap2	G	A	4: 41,206,268 (GRCm39)	Q534*	probably null	Het
Yju2	C	T	17: 56,274,582 (GRCm39)	S298F	probably damaging	Het
Zfp954	C	A	7: 7,118,624 (GRCm39)	E307*	probably null	Het
Zscan21	A	G	5: 138,124,740 (GRCm39)	K219E	probably benign	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
R6164:Sele	UTSW	1	163,879,386 (GRCm39)	splice site	probably null
R6239:Sele	UTSW	1	163,878,377 (GRCm39)	missense	probably damaging	0.98
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'- AGTCAATAACGTATGGATCTGGG -3'
(R):5'- GGCATGCCAGATACAAGTTCC -3'

Sequencing Primer
(F):5'- CAATAACGTATGGATCTGGGTGGGG -3'
(R):5'- CAGATACAAGTTCCAGTCTCATCTG -3'

Posted On

2017-02-10