Mutagenetix > Incidental Mutation

Incidental Mutation 'R5112:Sell'

393894

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

042700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163889556-163908354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 163892887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 34 (H34Q)

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: H34Q

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027871
Gene: ENSMUSG00000026581
AA Change: H34Q

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: H34Q

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095099
Gene: ENSMUSG00000026581
AA Change: H34Q

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: H34Q

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142237
Gene: ENSMUSG00000026581
AA Change: H34Q

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

0.1223

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,328,383 (GRCm39)	K846R	probably damaging	Het
Acsbg3	T	A	17: 57,184,465 (GRCm39)	M80K	probably benign	Het
Acsm5	A	G	7: 119,136,502 (GRCm39)	K358E	possibly damaging	Het
Adam26a	A	T	8: 44,021,893 (GRCm39)	D532E	probably benign	Het
Adamts19	C	T	18: 59,164,876 (GRCm39)	R993*	probably null	Het
Akr1c13	A	G	13: 4,244,151 (GRCm39)	K68R	possibly damaging	Het
Amer3	T	A	1: 34,626,157 (GRCm39)	M132K	possibly damaging	Het
Ankrd2	A	G	19: 42,028,326 (GRCm39)	D38G	possibly damaging	Het
Ano7	G	A	1: 93,325,085 (GRCm39)	V546M	possibly damaging	Het
Aox1	G	A	1: 58,349,254 (GRCm39)		probably null	Het
Apc	T	A	18: 34,449,162 (GRCm39)	C1985*	probably null	Het
Astn1	C	T	1: 158,484,763 (GRCm39)	S15F	possibly damaging	Het
Atp13a4	A	T	16: 29,228,686 (GRCm39)	N950K	possibly damaging	Het
Bcl6	A	G	16: 23,791,496 (GRCm39)	V286A	probably benign	Het
Brox	T	A	1: 183,073,541 (GRCm39)	T79S	probably benign	Het
C2cd3	A	T	7: 100,092,692 (GRCm39)	I512F	possibly damaging	Het
Camta1	A	G	4: 151,158,511 (GRCm39)	L542S	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Card10	C	T	15: 78,686,580 (GRCm39)		probably null	Het
Cd96	A	G	16: 45,919,301 (GRCm39)	M240T	probably benign	Het
Cdc123	A	G	2: 5,809,748 (GRCm39)	L221P	possibly damaging	Het
Cdh19	A	G	1: 110,882,354 (GRCm39)	V46A	possibly damaging	Het
Clcn3	G	A	8: 61,407,586 (GRCm39)	H24Y	probably benign	Het
Col11a2	T	C	17: 34,283,062 (GRCm39)		probably benign	Het
Cpsf3	A	T	12: 21,341,785 (GRCm39)	M50L	probably benign	Het
Csf3	T	A	11: 98,593,749 (GRCm39)	L197Q	probably damaging	Het
Ctsw	T	A	19: 5,516,285 (GRCm39)	D196V	probably damaging	Het
Dcun1d3	A	T	7: 119,457,250 (GRCm39)	I154K	probably damaging	Het
Ddr1	T	C	17: 35,993,377 (GRCm39)	T877A	probably benign	Het
Dnah8	T	A	17: 30,950,012 (GRCm39)	L1944I	probably benign	Het
Dpf3	G	T	12: 83,417,385 (GRCm39)	S29*	probably null	Het
Ephb1	A	G	9: 101,848,378 (GRCm39)	I640T	probably damaging	Het
Fat1	G	A	8: 45,477,319 (GRCm39)	G2099S	probably damaging	Het
Fbxo41	G	T	6: 85,454,906 (GRCm39)	N667K	probably damaging	Het
Flacc1	T	C	1: 58,698,441 (GRCm39)	T326A	probably benign	Het
Gart	A	T	16: 91,430,933 (GRCm39)	D376E	probably benign	Het
Glyr1	G	A	16: 4,836,740 (GRCm39)	Q475*	probably null	Het
Gm28051	G	A	12: 102,686,430 (GRCm39)	Q77*	probably null	Het
Gnmt	C	A	17: 47,037,256 (GRCm39)	R176L	probably damaging	Het
Gpr176	A	T	2: 118,110,629 (GRCm39)	V210D	possibly damaging	Het
Gtf2ird1	A	T	5: 134,431,038 (GRCm39)	D339E	probably damaging	Het
Hmbox1	A	G	14: 65,063,061 (GRCm39)	Y372H	probably damaging	Het
Ier2	G	T	8: 85,389,361 (GRCm39)	A7E	probably damaging	Het
Il20ra	A	G	10: 19,634,691 (GRCm39)	T311A	possibly damaging	Het
Il24	T	C	1: 130,811,179 (GRCm39)		probably null	Het
Insl6	G	A	19: 29,298,996 (GRCm39)	Q139*	probably null	Het
Itga2b	A	T	11: 102,349,017 (GRCm39)	I729K	probably damaging	Het
Itpr2	A	T	6: 146,135,489 (GRCm39)	M1814K	possibly damaging	Het
Klhl3	G	A	13: 58,166,703 (GRCm39)	S429F	probably damaging	Het
Lipo2	T	C	19: 33,725,865 (GRCm39)	N129S	probably benign	Het
Lrba	C	T	3: 86,132,678 (GRCm39)	T28M	probably benign	Het
Ly86	G	T	13: 37,559,013 (GRCm39)	G71C	probably damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mical2	A	G	7: 111,919,818 (GRCm39)	S443G	probably damaging	Het
Mmp17	A	G	5: 129,679,229 (GRCm39)	H376R	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myo7b	T	C	18: 32,116,640 (GRCm39)	H989R	probably damaging	Het
Neil2	A	G	14: 63,425,909 (GRCm39)	W154R	probably damaging	Het
Nlrp12	G	A	7: 3,289,613 (GRCm39)	H300Y	possibly damaging	Het
Nlrp3	A	T	11: 59,439,554 (GRCm39)	Y377F	probably damaging	Het
Notch2	T	C	3: 98,008,952 (GRCm39)		probably null	Het
Nudcd1	A	T	15: 44,240,039 (GRCm39)	C500*	probably null	Het
Or5b24	T	C	19: 12,912,180 (GRCm39)	V26A	probably benign	Het
Or5d37	A	G	2: 87,923,353 (GRCm39)	V309A	probably damaging	Het
Or8g18	A	G	9: 39,149,717 (GRCm39)	M1T	probably null	Het
Or8h9	A	T	2: 86,789,698 (GRCm39)	Y35N	probably damaging	Het
Pabpc6	T	A	17: 9,888,540 (GRCm39)	S4C	probably damaging	Het
Pan2	C	T	10: 128,151,464 (GRCm39)	R835*	probably null	Het
Parp9	G	A	16: 35,784,683 (GRCm39)	V346I	probably damaging	Het
Pcbp4	C	T	9: 106,337,917 (GRCm39)	T69M	probably damaging	Het
Pclo	T	A	5: 14,727,896 (GRCm39)		probably benign	Het
Phldb3	A	T	7: 24,324,110 (GRCm39)	I495F	possibly damaging	Het
Plce1	G	T	19: 38,640,277 (GRCm39)	V508F	probably benign	Het
Pmpca	A	T	2: 26,285,178 (GRCm39)	I468F	probably damaging	Het
Pmpcb	G	A	5: 21,961,441 (GRCm39)	R399H	probably damaging	Het
Ptprc	A	G	1: 138,022,037 (GRCm39)	S544P	probably damaging	Het
Rev3l	T	A	10: 39,699,326 (GRCm39)	D1274E	probably benign	Het
Ryr3	A	T	2: 112,733,010 (GRCm39)	V612E	probably damaging	Het
Scfd2	G	T	5: 74,366,982 (GRCm39)	H639Q	probably benign	Het
Setd2	A	G	9: 110,377,226 (GRCm39)	D347G	probably benign	Het
Sgip1	G	A	4: 102,726,966 (GRCm39)	D81N	probably damaging	Het
Slc12a1	A	T	2: 125,060,144 (GRCm39)	I940F	possibly damaging	Het
Slc25a34	T	A	4: 141,348,769 (GRCm39)	I232L	probably benign	Het
Slc36a3	T	A	11: 55,039,399 (GRCm39)	K76N	probably damaging	Het
Slc6a15	T	A	10: 103,225,087 (GRCm39)	D58E	probably benign	Het
Slc6a7	T	C	18: 61,140,448 (GRCm39)	S195G	probably null	Het
Svep1	G	A	4: 58,068,610 (GRCm39)	Q3059*	probably null	Het
Syce1l	A	C	8: 114,378,274 (GRCm39)	H56P	probably damaging	Het
Tbc1d2	A	G	4: 46,606,503 (GRCm39)	V814A	probably damaging	Het
Tbx18	T	A	9: 87,597,740 (GRCm39)	I265F	probably damaging	Het
Thbs2	T	C	17: 14,890,852 (GRCm39)		probably null	Het
Ttll1	T	C	15: 83,380,597 (GRCm39)	H256R	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttyh2	A	T	11: 114,587,583 (GRCm39)	T195S	probably benign	Het
Unc119b	A	G	5: 115,263,553 (GRCm39)	L217P	probably damaging	Het
Unc5a	T	C	13: 55,151,231 (GRCm39)		probably null	Het
Usp6nl	A	G	2: 6,425,714 (GRCm39)	K152E	probably benign	Het
Vcam1	T	C	3: 115,910,941 (GRCm39)	R486G	probably benign	Het
Vmn2r1	A	C	3: 63,997,544 (GRCm39)	Q400P	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,292 (GRCm39)	V706D	possibly damaging	Het
Vmn2r87	A	T	10: 130,314,422 (GRCm39)	L388Q	probably damaging	Het
Vwa3a	A	T	7: 120,383,208 (GRCm39)	Y603F	probably damaging	Het
Zfp850	A	T	7: 27,689,658 (GRCm39)	C183*	probably null	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
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'- CTATATTCTGATCCAAGGCTGCC -3'
(R):5'- AGAGTTTTGTTGGTTCCCACCC -3'

Sequencing Primer
(F):5'- CTGCCAACAGCTAATTTGGG -3'
(R):5'- CAATTTTCCTGATTCCTATCCAGTAG -3'

Posted On

2016-06-15