Mutagenetix > Incidental Mutation

Incidental Mutation 'R7148:Sell'

553922

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

045225-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

163889556-163908354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163893176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 131 (I131V)

Ref Sequence

ENSEMBL: ENSMUSP00000142237 (fasta)

Gene Model

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

AlphaFold

P18337

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027871
AA Change: I131V

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027871
Gene: ENSMUSG00000026581
AA Change: I131V

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

possibly damaging
Transcript: ENSMUST00000097491
AA Change: I131V

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095099
Gene: ENSMUSG00000026581
AA Change: I131V

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

possibly damaging
Transcript: ENSMUST00000192047
AA Change: I131V

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142237
Gene: ENSMUSG00000026581
AA Change: I131V

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

0.1065

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,110,269 (GRCm39)	Y14F	probably damaging	Het
Acly	A	G	11: 100,374,608 (GRCm39)	V805A	possibly damaging	Het
Apcdd1	T	C	18: 63,084,916 (GRCm39)	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,356,756 (GRCm39)	F127I	probably benign	Het
Ccdc138	T	C	10: 58,374,102 (GRCm39)	L374P	probably damaging	Het
Ces2b	A	G	8: 105,564,928 (GRCm39)	Y504C	probably damaging	Het
Ces5a	C	T	8: 94,228,950 (GRCm39)	G427S	probably damaging	Het
Chd1l	C	T	3: 97,498,632 (GRCm39)	V256M	probably damaging	Het
Col24a1	C	T	3: 145,021,060 (GRCm39)	T477M	probably damaging	Het
Dmbt1	T	A	7: 130,668,464 (GRCm39)	C573*	probably null	Het
Emcn	A	T	3: 137,122,855 (GRCm39)	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,048,125 (GRCm39)	M1R	probably null	Het
Fam243	T	C	16: 92,117,875 (GRCm39)	K138E	probably benign	Het
Fam83h	C	A	15: 75,877,016 (GRCm39)	D194Y	probably damaging	Het
Flywch1	T	C	17: 23,974,649 (GRCm39)	K664E	probably benign	Het
Fzd9	A	G	5: 135,278,544 (GRCm39)	V447A	probably benign	Het
Heatr5b	T	C	17: 79,138,863 (GRCm39)	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,562,605 (GRCm39)	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,901 (GRCm39)	L258Q	probably damaging	Het
Itprid1	T	C	6: 55,874,671 (GRCm39)	I207T	probably damaging	Het
Kmo	T	A	1: 175,479,168 (GRCm39)	C235S	probably damaging	Het
Lamc2	G	A	1: 153,061,730 (GRCm39)	P2S	probably benign	Het
Lman2	G	A	13: 55,500,762 (GRCm39)	P146S	probably benign	Het
Mars2	T	C	1: 55,276,673 (GRCm39)	I92T	probably damaging	Het
Msh3	A	G	13: 92,491,330 (GRCm39)	F27L	probably benign	Het
Myom2	T	C	8: 15,134,577 (GRCm39)	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,172,306 (GRCm39)	*214R	probably null	Het
Nsd2	T	C	5: 34,042,855 (GRCm39)	F1040L	possibly damaging	Het
Or1ab2	T	A	8: 72,864,001 (GRCm39)	I197N	possibly damaging	Het
Osm	T	A	11: 4,189,936 (GRCm39)	I240N	probably benign	Het
Pard3b	T	A	1: 62,479,191 (GRCm39)	D884E	probably benign	Het
Pex5	T	G	6: 124,382,231 (GRCm39)	D150A	probably benign	Het
Pfkfb4	T	C	9: 108,856,676 (GRCm39)	V394A	probably damaging	Het
Pjvk	A	G	2: 76,488,831 (GRCm39)	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,807,525 (GRCm39)	D171G	probably benign	Het
Prpf4b	T	G	13: 35,078,455 (GRCm39)	N688K	probably benign	Het
R3hcc1	T	C	14: 69,943,001 (GRCm39)	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,596,318 (GRCm39)	G207*	probably null	Het
Rhobtb3	G	T	13: 76,059,006 (GRCm39)	T264K	probably benign	Het
Rpl27	A	G	11: 101,333,232 (GRCm39)		probably benign	Het
Rxfp3	C	T	15: 11,036,863 (GRCm39)	V170I	possibly damaging	Het
Samd4	T	A	14: 47,254,140 (GRCm39)	S201R	probably benign	Het
Semp2l2a	T	A	8: 13,887,996 (GRCm39)	I32L	probably benign	Het
Sirpb1c	A	T	3: 15,887,223 (GRCm39)	Y205*	probably null	Het
Smc3	A	T	19: 53,630,326 (GRCm39)	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,370,182 (GRCm39)	V185L	probably benign	Het
Spata4	A	C	8: 55,055,585 (GRCm39)	I159L	probably benign	Het
Spring1	A	G	5: 118,393,759 (GRCm39)	N46D	probably benign	Het
Tekt2	A	G	4: 126,216,174 (GRCm39)	I373T	probably benign	Het
Tle7	G	T	8: 110,836,048 (GRCm39)	R119I	probably benign	Het
Tomm20l	T	C	12: 71,164,313 (GRCm39)	V65A	probably benign	Het
Trabd2b	A	G	4: 114,266,547 (GRCm39)	D187G	probably damaging	Het
Trrap	A	G	5: 144,758,613 (GRCm39)	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,324,429 (GRCm39)	C440*	probably null	Het
Ube3b	A	C	5: 114,544,313 (GRCm39)	N570T	probably damaging	Het
Uevld	A	G	7: 46,600,724 (GRCm39)	I70T	probably damaging	Het
Usp10	C	T	8: 120,663,289 (GRCm39)	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,689,981 (GRCm39)	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,414,640 (GRCm39)	V601A	probably benign	Het
Wdr81	G	C	11: 75,336,828 (GRCm39)	N401K		Het
Ythdc2	G	T	18: 44,966,189 (GRCm39)	V142F	probably benign	Het
Zfp346	T	C	13: 55,253,263 (GRCm39)	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,690,358 (GRCm39)	V301M	possibly damaging	Het
Zim1	T	C	7: 6,681,220 (GRCm39)	K148E	possibly damaging	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
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
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'- TTAGTCGCCATACAAAACAAGAGAG -3'
(R):5'- AGAGGTGCTATGCTTAAGGC -3'

Sequencing Primer
(F):5'- CGCCATACAAAACAAGAGAGAAATTG -3'
(R):5'- GGATTGTTTTAGAACCCAGAATAGC -3'

Posted On

2019-05-15