Incidental Mutation 'IGL03243:Sell'
| ID |
414300 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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)
|
| Stock # |
IGL03243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
163889556-163908354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 163892911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 42
(H42Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027871]
[ENSMUST00000097491]
[ENSMUST00000192047]
[ENSMUST00000195358]
|
| AlphaFold |
P18337 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027871
AA Change: H42Q
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027871
Gene: ENSMUSG00000026581
AA Change: H42Q
| 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: H42Q
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095099
Gene: ENSMUSG00000026581
AA Change: H42Q
| 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: H42Q
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142237
Gene: ENSMUSG00000026581
AA Change: H42Q
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
C |
8: 44,021,733 (GRCm39) |
T586A |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,369,959 (GRCm39) |
T216A |
probably benign |
Het |
| Ankdd1a |
T |
C |
9: 65,408,752 (GRCm39) |
R505G |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,976,551 (GRCm39) |
|
probably benign |
Het |
| Atp6v1c2 |
C |
T |
12: 17,339,122 (GRCm39) |
V210I |
probably benign |
Het |
| BC034090 |
G |
A |
1: 155,101,401 (GRCm39) |
P288S |
possibly damaging |
Het |
| Catsper2 |
T |
C |
2: 121,237,300 (GRCm39) |
H200R |
probably benign |
Het |
| Ceacam23 |
A |
T |
7: 17,652,574 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap5c |
G |
T |
17: 58,409,171 (GRCm39) |
A470S |
probably benign |
Het |
| Fcho2 |
G |
A |
13: 98,913,892 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,932,206 (GRCm39) |
L165R |
probably damaging |
Het |
| Gpn1 |
G |
A |
5: 31,668,175 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,242,301 (GRCm39) |
N181S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,070,509 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,400,238 (GRCm39) |
N333S |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,680,159 (GRCm39) |
T442A |
probably benign |
Het |
| Myo15a |
G |
T |
11: 60,387,344 (GRCm39) |
L722F |
probably damaging |
Het |
| Nlrp9c |
T |
G |
7: 26,064,457 (GRCm39) |
D957A |
probably damaging |
Het |
| Nup58 |
T |
A |
14: 60,459,065 (GRCm39) |
T521S |
probably benign |
Het |
| Or7e165 |
T |
G |
9: 19,694,564 (GRCm39) |
I45S |
probably damaging |
Het |
| Plek |
C |
A |
11: 16,945,319 (GRCm39) |
V4L |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,533 (GRCm39) |
I702K |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,133,387 (GRCm39) |
I573V |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,943,364 (GRCm39) |
I526F |
probably damaging |
Het |
| Tmem30c |
A |
T |
16: 57,096,513 (GRCm39) |
S203T |
probably benign |
Het |
| Tox |
T |
C |
4: 6,697,597 (GRCm39) |
N402S |
possibly damaging |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,555 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,958,670 (GRCm39) |
V784D |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,882,963 (GRCm39) |
V263A |
possibly damaging |
Het |
| Zfp385c |
A |
T |
11: 100,525,573 (GRCm39) |
V56D |
probably damaging |
Het |
| Znrf2 |
A |
T |
6: 54,861,754 (GRCm39) |
I222L |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation