Mutagenetix > Incidental Mutation

Incidental Mutation 'R4685:Sell'

353582

Institutional Source

Beutler Lab

Gene Symbol

Sell

Ensembl Gene

ENSMUSG00000026581

Gene Name

selectin, lymphocyte

Synonyms

CD62L, Ly-22, Lyam1, LECAM-1, Lyam-1, Ly-m22, Lnhr, L-selectin

MMRRC Submission

041936-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4685 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163889556-163908354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 163893829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 175 (I175F)

Ref Sequence

ENSEMBL: ENSMUSP00000095099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027871] [ENSMUST00000097491] [ENSMUST00000192047] [ENSMUST00000195358]

AlphaFold

P18337

Predicted Effect

probably damaging
Transcript: ENSMUST00000027871
AA Change: I175F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027871
Gene: ENSMUSG00000026581
AA Change: I175F

Domain	Start	End	E-Value	Type
CLECT	27	156	1.14e-19	SMART
EGF	159	192	6.55e-1	SMART
CCP	197	254	1.09e-11	SMART
CCP	259	316	1.09e-11	SMART
transmembrane domain	333	355	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097491
AA Change: I175F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095099
Gene: ENSMUSG00000026581
AA Change: I175F

Domain	Start	End	E-Value	Type
CLECT	27	156	1.14e-19	SMART
CCP	161	218	1.09e-11	SMART
CCP	223	280	1.09e-11	SMART
transmembrane domain	297	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192047

SMART Domains

Protein: ENSMUSP00000142237
Gene: ENSMUSG00000026581

Domain	Start	End	E-Value	Type
CLECT	27	156	1.14e-19	SMART
CCP	161	218	1.09e-11	SMART
CCP	223	280	1.09e-11	SMART
transmembrane domain	297	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195358

SMART Domains

Protein: ENSMUSP00000141365
Gene: ENSMUSG00000026581

Domain	Start	End	E-Value	Type
Pfam:Sushi	1	31	1.3e-4	PFAM
transmembrane domain	48	70	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (71/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lack of lymphocyte binding to high endothelial venules of peripheral lymph nodes and defects in leukocyte rolling and neutrophil migration into the peritoneum following an inflammatory stimulus. Tumor cellsurvival is also reduced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	C	12: 17,057,185 (GRCm39)	D104G	probably damaging	Het
2810021J22Rik	T	C	11: 58,771,750 (GRCm39)	S411P	probably damaging	Het
Adcy2	T	C	13: 68,876,024 (GRCm39)	R493G	probably benign	Het
Adcy8	A	G	15: 64,609,287 (GRCm39)	I874T	probably benign	Het
Ano2	G	T	6: 125,957,087 (GRCm39)	E619*	probably null	Het
Apob	A	G	12: 8,056,456 (GRCm39)	K1613R	probably benign	Het
Arhgef10	T	A	8: 15,006,963 (GRCm39)	F476Y	probably damaging	Het
Bmf	G	A	2: 118,377,283 (GRCm39)	A74V	probably damaging	Het
Cadps	T	C	14: 12,467,139 (GRCm38)	E925G	possibly damaging	Het
Ccdc162	T	C	10: 41,557,682 (GRCm39)	D181G	possibly damaging	Het
Ccdc85c	A	T	12: 108,173,434 (GRCm39)	C387S	probably benign	Het
Cntnap5a	T	C	1: 116,374,410 (GRCm39)	V974A	possibly damaging	Het
Cplx3	T	A	9: 57,516,483 (GRCm39)	I407F	probably damaging	Het
Dnah7b	T	C	1: 46,250,488 (GRCm39)	F1703S	probably damaging	Het
Dsg3	C	A	18: 20,672,793 (GRCm39)	D821E	probably benign	Het
Ecel1	G	T	1: 87,080,668 (GRCm39)		probably null	Het
Edn1	A	T	13: 42,458,729 (GRCm39)		probably null	Het
Egfr	G	A	11: 16,808,980 (GRCm39)	C58Y	probably damaging	Het
Fam184a	T	C	10: 53,574,596 (GRCm39)	N282D	probably benign	Het
Fhit	T	A	14: 9,870,091 (GRCm38)	Q63L	probably damaging	Het
Gabarapl2	T	C	8: 112,669,150 (GRCm39)	V36A	probably benign	Het
Glis1	T	C	4: 107,424,842 (GRCm39)	V151A	probably benign	Het
Gm12695	A	G	4: 96,650,217 (GRCm39)	S210P	probably damaging	Het
Gpat4	TAGAAGA	TAGA	8: 23,672,865 (GRCm39)		probably benign	Het
H2-M10.4	G	A	17: 36,772,688 (GRCm39)	A98V	probably benign	Het
Hhat	C	A	1: 192,277,362 (GRCm39)	G366C	probably damaging	Het
Hydin	C	A	8: 111,189,154 (GRCm39)	A1186E	probably damaging	Het
Itgb2	T	A	10: 77,385,937 (GRCm39)		probably null	Het
Kank1	C	T	19: 25,387,398 (GRCm39)	A329V	possibly damaging	Het
Kdm4b	T	A	17: 56,708,675 (GRCm39)	S1070T	probably benign	Het
Kyat1	A	G	2: 30,078,277 (GRCm39)	Y101H	probably damaging	Het
Map4k5	T	C	12: 69,858,140 (GRCm39)	K679R	probably benign	Het
Mill1	A	T	7: 17,989,853 (GRCm39)	D45V	probably damaging	Het
Myo3a	T	A	2: 22,412,233 (GRCm39)	Y743N	probably damaging	Het
Nox4	C	G	7: 86,946,716 (GRCm39)	I137M	probably benign	Het
Odf4	A	G	11: 68,813,665 (GRCm39)		probably null	Het
Ostf1	A	T	19: 18,558,652 (GRCm39)	D210E	probably damaging	Het
Paxip1	A	T	5: 27,966,675 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,578 (GRCm39)	T211A	probably benign	Het
Pla2g4f	A	G	2: 120,135,496 (GRCm39)	S393P	probably damaging	Het
Plppr3	T	C	10: 79,703,359 (GRCm39)	T42A	probably damaging	Het
Plxna4	C	A	6: 32,142,779 (GRCm39)	G1559W	probably damaging	Het
Ppp1r13l	T	C	7: 19,109,308 (GRCm39)		probably null	Het
Prex1	C	T	2: 166,480,252 (GRCm39)	V163M	probably damaging	Het
Prl6a1	A	G	13: 27,500,307 (GRCm39)	T93A	probably benign	Het
Psg16	T	C	7: 16,824,459 (GRCm39)	V81A	probably benign	Het
Rbm33	A	T	5: 28,613,280 (GRCm39)		probably benign	Het
Rest	C	T	5: 77,423,090 (GRCm39)	P298L	possibly damaging	Het
Rhobtb3	G	A	13: 76,027,051 (GRCm39)	R441*	probably null	Het
Rims4	T	A	2: 163,706,914 (GRCm39)	K155*	probably null	Het
Rps6kb1	C	T	11: 86,410,713 (GRCm39)		probably null	Het
Ryr2	T	C	13: 11,707,532 (GRCm39)	D2835G	probably damaging	Het
Sc5d	C	T	9: 42,169,946 (GRCm39)	V92I	probably benign	Het
Serpinb6d	A	G	13: 33,855,211 (GRCm39)	D295G	probably damaging	Het
Sphk1	A	G	11: 116,426,106 (GRCm39)	D96G	probably damaging	Het
Spns3	A	T	11: 72,428,096 (GRCm39)	V228D	probably damaging	Het
Sspo	A	G	6: 48,469,828 (GRCm39)	S4500G	probably damaging	Het
Syt9	T	A	7: 107,035,678 (GRCm39)	C232S	possibly damaging	Het
Terf1	A	G	1: 15,889,185 (GRCm39)	I176V	possibly damaging	Het
Tln2	C	T	9: 67,209,854 (GRCm39)	A428T	probably damaging	Het
Tmprss7	T	C	16: 45,499,711 (GRCm39)	N321S	probably benign	Het
Tomm40	A	G	7: 19,435,761 (GRCm39)	I323T	probably benign	Het
Try5	T	A	6: 41,288,233 (GRCm39)	Q240L	possibly damaging	Het
Vmn1r213	A	T	13: 23,195,800 (GRCm39)	I128L	probably benign	Het
Vmn2r80	T	C	10: 79,030,162 (GRCm39)	F663L	possibly damaging	Het
Znfx1	T	A	2: 166,880,950 (GRCm39)	Y278F	probably damaging	Het
Zpbp2	A	G	11: 98,442,117 (GRCm39)		probably benign	Het

Other mutations in Sell

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Sell	APN	1	163,893,195 (GRCm39)	missense	probably benign	0.04
IGL02466:Sell	APN	1	163,896,632 (GRCm39)	splice site	probably null
IGL02578:Sell	APN	1	163,893,165 (GRCm39)	missense	probably damaging	1.00
IGL03243:Sell	APN	1	163,892,911 (GRCm39)	missense	possibly damaging	0.94
dim_sum	UTSW	1	163,893,770 (GRCm39)	splice site	probably null
dim_sum2	UTSW	1	163,893,230 (GRCm39)	nonsense	probably null
Duct	UTSW	1	163,893,122 (GRCm39)	missense	probably damaging	1.00
Postit	UTSW	1	163,893,176 (GRCm39)	missense	possibly damaging	0.85
R0125:Sell	UTSW	1	163,899,674 (GRCm39)	splice site	probably benign
R0800:Sell	UTSW	1	163,893,770 (GRCm39)	splice site	probably null
R1900:Sell	UTSW	1	163,892,907 (GRCm39)	missense	probably damaging	1.00
R3848:Sell	UTSW	1	163,893,230 (GRCm39)	nonsense	probably null
R4553:Sell	UTSW	1	163,899,685 (GRCm39)	missense	probably benign	0.08
R4671:Sell	UTSW	1	163,893,042 (GRCm39)	missense	probably damaging	1.00
R4896:Sell	UTSW	1	163,890,631 (GRCm39)	missense	probably benign	0.02
R4970:Sell	UTSW	1	163,892,887 (GRCm39)	missense	possibly damaging	0.75
R5112:Sell	UTSW	1	163,892,887 (GRCm39)	missense	possibly damaging	0.75
R6549:Sell	UTSW	1	163,893,198 (GRCm39)	missense	probably damaging	1.00
R7148:Sell	UTSW	1	163,893,176 (GRCm39)	missense	possibly damaging	0.85
R7545:Sell	UTSW	1	163,892,903 (GRCm39)	missense	probably benign	0.21
R8010:Sell	UTSW	1	163,893,081 (GRCm39)	missense	possibly damaging	0.92
R9026:Sell	UTSW	1	163,893,042 (GRCm39)	missense	probably damaging	1.00
R9239:Sell	UTSW	1	163,893,176 (GRCm39)	missense	possibly damaging	0.85
R9329:Sell	UTSW	1	163,893,122 (GRCm39)	missense	probably damaging	1.00
R9336:Sell	UTSW	1	163,893,177 (GRCm39)	missense	probably damaging	1.00
R9455:Sell	UTSW	1	163,894,218 (GRCm39)	missense	probably benign	0.02
R9699:Sell	UTSW	1	163,893,114 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGTGTAGCGTGCGTTATGC -3'
(R):5'- GATAACCAGGTGTGTCGTCC -3'

Sequencing Primer
(F):5'- TGCAAAGAAGAGACTCTGG -3'
(R):5'- GTGTCGTCCACATGCAGAATCAG -3'

Posted On

2015-10-21