Mutagenetix > Incidental Mutations

Incidental Mutation 'R2102:Sele'

230543

Institutional Source

Beutler Lab

Gene Symbol

Sele

Ensembl Gene

ENSMUSG00000026582

Gene Name

selectin, endothelial cell

Synonyms

CD62E, E-selectin, Elam

MMRRC Submission

040106-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164048234-164057677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164053826 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 501 (C501S)

Ref Sequence

ENSEMBL: ENSMUSP00000027874 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027874
AA Change: C501S

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

SMART Domains

Protein: ENSMUSP00000027874
Gene: ENSMUSG00000026582
AA Change: C501S

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,065,173	L41P	probably damaging	Het
1700061G19Rik	T	A	17: 56,884,949	Y542*	probably null	Het
3632451O06Rik	A	G	14: 49,774,002	Y83H	probably damaging	Het
Abca8a	G	T	11: 110,068,052	P749T	probably damaging	Het
Acad8	A	T	9: 26,985,565	Y199*	probably null	Het
Acot12	A	T	13: 91,759,977	I93L	probably benign	Het
Actn1	C	A	12: 80,183,517	R321L	probably benign	Het
Ap3s1	A	G	18: 46,754,402	E34G	possibly damaging	Het
Atp5a1	T	C	18: 77,782,317	S533P	probably damaging	Het
Bcorl1	T	C	X: 48,369,204	V538A	probably benign	Het
Cdhr4	A	G	9: 107,998,007	T689A	probably damaging	Het
Cdk19	A	T	10: 40,479,730		probably benign	Het
Cobll1	G	T	2: 65,098,210	P923Q	probably damaging	Het
Cpt1a	T	C	19: 3,371,585	S456P	probably benign	Het
Cst11	T	C	2: 148,771,240	Y55C	probably damaging	Het
Ctif	T	G	18: 75,521,381	D358A	probably benign	Het
Cyp2d34	T	G	15: 82,616,773	E386A	probably benign	Het
Dcxr	A	G	11: 120,726,307	F104L	probably benign	Het
Dmbt1	G	T	7: 131,102,032	W1107C	probably damaging	Het
Dsg1a	A	T	18: 20,333,773	I567F	probably damaging	Het
Ednrb	T	A	14: 103,820,914	R318*	probably null	Het
Exd2	T	C	12: 80,480,603	I36T	possibly damaging	Het
Fam205c	T	A	4: 42,868,558	H355L	probably benign	Het
Fam83b	A	T	9: 76,492,705	I372N	probably damaging	Het
Fbxo18	A	G	2: 11,758,289	V518A	probably benign	Het
Fkbp5	T	C	17: 28,406,188	E308G	possibly damaging	Het
Foxl2	A	C	9: 98,956,229	Y190S	probably damaging	Het
Gab3	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 74,999,979		probably benign	Het
Galnt17	C	T	5: 131,085,993	R223Q	probably damaging	Het
Gm10696	A	T	3: 94,175,666	C279*	probably null	Het
Gm14496	G	A	2: 181,991,334	D37N	possibly damaging	Het
Gpr82	T	C	X: 13,666,035	V274A	probably benign	Het
Hsp90aa1	T	C	12: 110,694,132	N292S	probably damaging	Het
Ints1	C	T	5: 139,755,999	V1826M	possibly damaging	Het
Itgb4	A	G	11: 116,005,735	D1440G	probably benign	Het
Kdm3b	A	G	18: 34,830,147	D1552G	probably damaging	Het
Kel	G	A	6: 41,686,484	T702I	possibly damaging	Het
Klf3	T	C	5: 64,821,923	V36A	probably damaging	Het
Klhl23	A	T	2: 69,828,884	I418F	probably damaging	Het
Kndc1	A	T	7: 139,930,761	I1329L	probably benign	Het
Krtap2-4	T	C	11: 99,614,780		probably benign	Het
Krtap9-5	T	A	11: 99,949,444	C324S	unknown	Het
Lepr	T	C	4: 101,772,981	V631A	possibly damaging	Het
Lifr	T	C	15: 7,186,923	I793T	probably damaging	Het
Mcoln1	G	A	8: 3,511,731	R427H	probably damaging	Het
Mgat5b	G	A	11: 116,919,429		probably benign	Het
Mmp12	G	A	9: 7,349,802	V78M	probably damaging	Het
Mrgprb8	T	A	7: 48,388,886	L102M	possibly damaging	Het
Mybphl	A	G	3: 108,375,633	T246A	possibly damaging	Het
Myo7b	A	T	18: 31,999,978	F439L	probably damaging	Het
Myom1	A	T	17: 71,101,029	D1088V	probably damaging	Het
Nrcam	T	C	12: 44,576,688	F1004S	probably benign	Het
Palld	A	T	8: 61,533,433	M788K	possibly damaging	Het
Pappa	T	A	4: 65,316,228	Y1423*	probably null	Het
Pfkm	A	G	15: 98,129,290	K615E	probably damaging	Het
Pkd1l2	G	T	8: 117,081,469	D105E	probably damaging	Het
Plekha5	G	A	6: 140,572,877	A297T	probably damaging	Het
Plxnb1	T	A	9: 109,115,742	M2051K	probably damaging	Het
Ppp6r2	A	G	15: 89,278,746	T524A	probably damaging	Het
Psg26	T	C	7: 18,475,142	E447G	probably damaging	Het
Rab3gap2	A	G	1: 185,282,389	D1225G	probably benign	Het
Rep15	A	G	6: 147,032,905		probably null	Het
Rgl2	G	A	17: 33,933,340		probably null	Het
Rpl7a	T	G	2: 26,911,461	V55G	possibly damaging	Het
Rtp1	A	T	16: 23,431,358	I158F	probably benign	Het
Scaper	A	T	9: 55,912,050	V127E	probably benign	Het
Serpina11	C	T	12: 103,982,845	V358I	probably benign	Het
Slc16a4	A	G	3: 107,304,503		probably null	Het
Slco6c1	T	C	1: 97,127,931	I82V	probably benign	Het
Smarca5	T	C	8: 80,704,675	E971G	probably damaging	Het
Smr2	T	C	5: 88,108,736	L91P	probably damaging	Het
Srrm2	A	G	17: 23,817,748		probably benign	Het
Syne1	A	G	10: 5,056,514	W7980R	probably damaging	Het
Syne2	A	G	12: 76,028,079	T4598A	probably benign	Het
Tmem171	A	T	13: 98,692,343	F100I	probably damaging	Het
Tmem173	A	T	18: 35,735,237	M270K	probably damaging	Het
Tnfrsf10b	A	G	14: 69,776,097	T159A	probably benign	Het
Tph1	A	T	7: 46,660,410		probably null	Het
Trim46	A	T	3: 89,235,197	I638N	probably damaging	Het
Ubl7	G	A	9: 57,920,542	D171N	probably damaging	Het
Utp20	A	G	10: 88,772,917	Y1514H	probably damaging	Het
Vmn2r81	A	G	10: 79,293,500	I742V	probably damaging	Het
Xrcc2	A	T	5: 25,692,507	V148E	probably damaging	Het
Zbed3	A	G	13: 95,336,107	D13G	possibly damaging	Het
Zdhhc25	T	A	15: 88,600,759	L99Q	probably benign	Het

Other mutations in Sele

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Sele	APN	1	164051834	missense	probably damaging	1.00
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
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
X0005:Sele	UTSW	1	164049343	missense	probably damaging	1.00
X0021:Sele	UTSW	1	164053611	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- ACCTACAAGTCCTCATGTGCC -3'
(R):5'- ACCATCCATCAGTGCCTTAC -3'

Sequencing Primer
(F):5'- CCTTTCAATGCAATGAGGGC -3'
(R):5'- ATCAGTGCCTTACCTTCACAG -3'

Posted On

2014-09-18