Mutagenetix > Incidental Mutation

Incidental Mutation 'R4671:Sell'

348402

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4671 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163889556-163908354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163893042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 86 (Y86C)

Ref Sequence

ENSEMBL: ENSMUSP00000142237 (fasta)

Gene Model

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

AlphaFold

P18337

Predicted Effect

probably damaging
Transcript: ENSMUST00000027871
AA Change: Y86C

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

SMART Domains

Protein: ENSMUSP00000027871
Gene: ENSMUSG00000026581
AA Change: Y86C

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: Y86C

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

SMART Domains

Protein: ENSMUSP00000095099
Gene: ENSMUSG00000026581
AA Change: Y86C

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 damaging
Transcript: ENSMUST00000192047
AA Change: Y86C

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

SMART Domains

Protein: ENSMUSP00000142237
Gene: ENSMUSG00000026581
AA Change: Y86C

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

Meta Mutation Damage Score

0.7570

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,789,157 (GRCm39)	S271P	probably benign	Het
Acod1	T	G	14: 103,284,508 (GRCm39)	M2R	probably benign	Het
Adamts20	T	C	15: 94,301,206 (GRCm39)	E106G	possibly damaging	Het
Adgra3	G	A	5: 50,136,710 (GRCm39)	T661M	probably damaging	Het
Akap13	T	A	7: 75,229,312 (GRCm39)	C161*	probably null	Het
Akr1c12	A	C	13: 4,323,816 (GRCm39)	S162A	possibly damaging	Het
Anks1	C	A	17: 28,270,552 (GRCm39)	H805N	probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Banf1	T	C	19: 5,415,872 (GRCm39)	R33G	probably benign	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cacna1c	G	T	6: 118,629,019 (GRCm39)	H1240N	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Ccdc127	T	A	13: 74,505,164 (GRCm39)	Y237*	probably null	Het
Ccnb1ip1	A	T	14: 51,029,734 (GRCm39)	Y109*	probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Cps1	A	G	1: 67,235,719 (GRCm39)	Y951C	probably damaging	Het
Dcakd	T	C	11: 102,890,634 (GRCm39)	E51G	possibly damaging	Het
Dennd4a	A	T	9: 64,801,689 (GRCm39)	N944I	probably benign	Het
Dus3l	C	T	17: 57,075,566 (GRCm39)	R430C	probably benign	Het
Dync2h1	A	G	9: 7,169,640 (GRCm39)	L279P	possibly damaging	Het
Dzip3	G	A	16: 48,799,953 (GRCm39)	Q112*	probably null	Het
Eif1ad	T	A	19: 5,418,219 (GRCm39)	M1K	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fancg	T	C	4: 43,005,272 (GRCm39)	E366G	probably benign	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm11938	A	T	11: 99,493,832 (GRCm39)	C88S	possibly damaging	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Gucy2g	T	A	19: 55,226,500 (GRCm39)	I139F	probably damaging	Het
Iqub	A	T	6: 24,479,183 (GRCm39)	M453K	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kif23	A	T	9: 61,852,641 (GRCm39)	D24E	probably benign	Het
Kmt2c	T	C	5: 25,571,175 (GRCm39)	N845S	probably damaging	Het
Lhx5	G	A	5: 120,578,032 (GRCm39)	S284N	probably benign	Het
Lipf	T	G	19: 33,954,076 (GRCm39)	V389G	possibly damaging	Het
Lrrc7	C	T	3: 157,908,132 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,657,768 (GRCm39)		probably null	Het
Mast2	A	G	4: 116,165,847 (GRCm39)	S1287P	probably damaging	Het
Mepce	C	T	5: 137,784,905 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,382,691 (GRCm39)	V173A	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or1n2	G	A	2: 36,797,405 (GRCm39)	C149Y	probably benign	Het
Or2j6	T	G	7: 139,980,218 (GRCm39)	Y247S	probably damaging	Het
Or4k44	A	T	2: 111,368,280 (GRCm39)	M118K	probably damaging	Het
Or51e2	A	G	7: 102,391,808 (GRCm39)	V134A	probably damaging	Het
Or56a3b	T	C	7: 104,771,513 (GRCm39)	L283P	probably damaging	Het
Parp14	A	G	16: 35,678,691 (GRCm39)	F426L	probably benign	Het
Pcf11	A	T	7: 92,306,737 (GRCm39)	S1144T	possibly damaging	Het
Prpf3	T	A	3: 95,758,976 (GRCm39)	T59S	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptk7	A	G	17: 46,885,392 (GRCm39)	V678A	probably benign	Het
Rb1	A	G	14: 73,511,116 (GRCm39)	L331S	probably damaging	Het
Relch	A	G	1: 105,646,584 (GRCm39)	I637V	probably benign	Het
Serpina1e	G	A	12: 103,914,341 (GRCm39)	R328W	probably damaging	Het
Sertad3	T	G	7: 27,176,091 (GRCm39)	L175R	possibly damaging	Het
Stard9	G	T	2: 120,529,121 (GRCm39)	G1793W	probably damaging	Het
Stra6	T	C	9: 58,056,517 (GRCm39)	I383T	probably benign	Het
Tcf7l1	A	G	6: 72,626,161 (GRCm39)	L154P	probably damaging	Het
Tent5c	C	A	3: 100,380,515 (GRCm39)	L80F	probably benign	Het
Tonsl	A	T	15: 76,507,610 (GRCm39)	D55E	probably benign	Het
Ttc21b	A	G	2: 66,057,257 (GRCm39)	S572P	possibly damaging	Het
Ttc7	T	A	17: 87,654,048 (GRCm39)	L575Q	probably damaging	Het
Ubl4b	C	T	3: 107,462,194 (GRCm39)	S22N	probably damaging	Het
Ubr4	T	C	4: 139,163,502 (GRCm39)	V2634A	possibly damaging	Het
Zbed6	A	G	1: 133,584,778 (GRCm39)	V853A	probably benign	Het
Zfp46	A	C	4: 136,017,484 (GRCm39)	D106A	probably damaging	Het
Zfp951	A	C	5: 104,962,567 (GRCm39)	I333S	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
R4685:Sell	UTSW	1	163,893,829 (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'- TTCCAGACTTCCTGATACACCATG -3'
(R):5'- ACTGCCTACCTGTGTAGCAG -3'

Sequencing Primer
(F):5'- ACCATGGAACTCACTGTTGG -3'
(R):5'- GACAGGCGTCATCGTTCCATTTC -3'

Posted On

2015-10-08