Mutagenetix > Incidental Mutation

Incidental Mutation 'R3002:Sele'

477294

Institutional Source

Beutler Lab

Gene Symbol

Sele

Ensembl Gene

ENSMUSG00000026582

Gene Name

selectin, endothelial cell

Synonyms

Elam, CD62E, E-selectin

MMRRC Submission

040531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R3002 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163875773-163885246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 163881140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 447 (G447C)

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: G447C

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

SMART Domains

Protein: ENSMUSP00000027874
Gene: ENSMUSG00000026582
AA Change: G447C

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

0.9231

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (41/41)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,973,802 (GRCm39)	W40R	possibly damaging	Het
A2m	A	G	6: 121,638,406 (GRCm39)	S873G	possibly damaging	Het
Acd	C	T	8: 106,426,913 (GRCm39)		probably null	Het
Acly	T	C	11: 100,395,053 (GRCm39)	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,494,541 (GRCm39)	T767A	probably benign	Het
Bnip3	T	C	7: 138,496,430 (GRCm39)	I93V	probably benign	Het
Casq2	A	G	3: 102,052,517 (GRCm39)	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988 (GRCm39)	D182G	probably benign	Het
Cep112	A	G	11: 108,331,329 (GRCm39)	E178G	probably damaging	Het
Chrd	T	G	16: 20,556,195 (GRCm39)	Y585*	probably null	Het
Cnksr3	T	C	10: 7,102,856 (GRCm39)		probably benign	Het
Csmd1	A	G	8: 16,246,184 (GRCm39)	F1072L	probably damaging	Het
Dnai2	C	T	11: 114,641,297 (GRCm39)	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,511,134 (GRCm39)	F1289I	probably damaging	Het
Eprs1	T	C	1: 185,156,588 (GRCm39)		probably null	Het
Fasn	T	C	11: 120,700,671 (GRCm39)	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,532,072 (GRCm39)	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162 (GRCm38)	R1245L	probably benign	Het
Folh1	A	C	7: 86,372,519 (GRCm39)	I678M	probably damaging	Het
Frrs1l	G	T	4: 56,990,139 (GRCm39)		probably benign	Het
Hal	G	A	10: 93,343,381 (GRCm39)	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,099,910 (GRCm39)	M252K	probably damaging	Het
Il27ra	G	T	8: 84,758,660 (GRCm39)	S499*	probably null	Het
Klhdc1	T	A	12: 69,302,983 (GRCm39)	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lnx2	A	G	5: 146,955,825 (GRCm39)	V657A	probably benign	Het
Lrig1	G	A	6: 94,585,758 (GRCm39)	S810L	probably damaging	Het
Lyst	A	T	13: 13,871,290 (GRCm39)	M2676L	probably benign	Het
Mindy4	T	A	6: 55,195,349 (GRCm39)	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,293,232 (GRCm39)	M106I	probably benign	Het
Ncam1	A	G	9: 49,468,526 (GRCm39)	I311T	probably damaging	Het
Ndufa8	T	A	2: 35,926,571 (GRCm39)	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,168,853 (GRCm39)		probably null	Het
Or2a12	A	G	6: 42,904,888 (GRCm39)	H241R	probably damaging	Het
Orc3	T	C	4: 34,571,790 (GRCm39)	T660A	probably benign	Het
Otub2	T	C	12: 103,370,536 (GRCm39)	S273P	probably damaging	Het
Otulinl	T	C	15: 27,664,792 (GRCm39)	T55A	probably benign	Het
Phf11c	A	G	14: 59,622,289 (GRCm39)	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,516,946 (GRCm39)	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,143,996 (GRCm39)	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,629,080 (GRCm39)	F1565I	probably damaging	Het
Polr1a	A	G	6: 71,890,000 (GRCm39)	N73S	probably benign	Het
Polr1a	T	A	6: 71,942,628 (GRCm39)	V1156E	probably benign	Het
Pon2	A	G	6: 5,268,976 (GRCm39)		probably null	Het
Ptcd1	G	A	5: 145,096,386 (GRCm39)	L236F	probably damaging	Het
Rgl2	A	G	17: 34,151,579 (GRCm39)	I208V	probably benign	Het
Rhox2e	C	A	X: 36,712,516 (GRCm39)	P69Q	probably damaging	Het
Rptor	G	A	11: 119,763,197 (GRCm39)	R927Q	possibly damaging	Het
Sec14l5	A	G	16: 4,989,746 (GRCm39)	Y230C	probably damaging	Het
Slc17a1	G	A	13: 24,062,564 (GRCm39)		probably null	Het
Slc2a4	A	T	11: 69,836,751 (GRCm39)	Y159*	probably null	Het
Slitrk5	A	G	14: 111,917,014 (GRCm39)	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,850,182 (GRCm39)	Y981*	probably null	Het
Tex15	T	C	8: 34,064,556 (GRCm39)	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,686,114 (GRCm39)	S2W	probably damaging	Het
Thoc5	A	G	11: 4,878,688 (GRCm39)	M620V	probably benign	Het
Tmeff2	C	T	1: 51,220,994 (GRCm39)	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588 (GRCm39)	L34W	probably damaging	Het
Tmtc4	A	T	14: 123,170,230 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,766,368 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,370,125 (GRCm39)	E714K	probably damaging	Het
Tyk2	C	A	9: 21,020,617 (GRCm39)	R938L	probably benign	Het
Usp33	A	T	3: 152,063,579 (GRCm39)	T18S	probably damaging	Het
V1rd19	A	T	7: 23,703,310 (GRCm39)	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,781,231 (GRCm39)	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,286,125 (GRCm39)	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,422,225 (GRCm39)	V125I	probably benign	Het
Zkscan17	A	G	11: 59,378,077 (GRCm39)	C369R	probably damaging	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
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
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

Posted On

2017-05-15