Incidental Mutation 'R8010:Sell'
| ID |
616835 |
| 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 |
046050-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
163889556-163908354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 163893081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 99
(T99I)
|
| 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: T99I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027871
Gene: ENSMUSG00000026581
AA Change: T99I
| 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: T99I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095099
Gene: ENSMUSG00000026581
AA Change: T99I
| 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: T99I
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142237
Gene: ENSMUSG00000026581
AA Change: T99I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,557,303 (GRCm39) |
H130L |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,127,600 (GRCm39) |
S140P |
probably benign |
Het |
| Aoc1 |
T |
C |
6: 48,882,582 (GRCm39) |
Y153H |
probably benign |
Het |
| Arhgdib |
A |
G |
6: 136,903,720 (GRCm39) |
I118T |
probably damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,680,070 (GRCm39) |
E865V |
possibly damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,670,878 (GRCm39) |
V587A |
probably benign |
Het |
| Ccdc107 |
G |
T |
4: 43,495,768 (GRCm39) |
E199* |
probably null |
Het |
| Cd55 |
A |
T |
1: 130,387,353 (GRCm39) |
D148E |
probably benign |
Het |
| Cdc42ep1 |
C |
T |
15: 78,731,999 (GRCm39) |
T148I |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,734,969 (GRCm39) |
D19E |
unknown |
Het |
| Chsy3 |
A |
G |
18: 59,543,226 (GRCm39) |
Y788C |
probably damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,340,897 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
T |
A |
17: 36,002,384 (GRCm39) |
M175L |
possibly damaging |
Het |
| Dicer1 |
C |
A |
12: 104,658,391 (GRCm39) |
K1850N |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,475,611 (GRCm39) |
R495C |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,832,681 (GRCm39) |
Q893L |
unknown |
Het |
| Fbh1 |
A |
T |
2: 11,772,443 (GRCm39) |
N79K |
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,284,272 (GRCm39) |
V1031D |
possibly damaging |
Het |
| Gm7298 |
A |
G |
6: 121,712,542 (GRCm39) |
E118G |
probably benign |
Het |
| Hnrnpll |
T |
C |
17: 80,369,385 (GRCm39) |
T13A |
unknown |
Het |
| Jcad |
A |
G |
18: 4,674,581 (GRCm39) |
D781G |
probably benign |
Het |
| Kitl |
A |
T |
10: 99,887,765 (GRCm39) |
T25S |
probably benign |
Het |
| Krt5 |
T |
C |
15: 101,620,791 (GRCm39) |
D152G |
probably damaging |
Het |
| Krtap5-5 |
T |
C |
7: 141,783,648 (GRCm39) |
M1V |
probably null |
Het |
| Ktn1 |
C |
T |
14: 47,943,230 (GRCm39) |
T862I |
possibly damaging |
Het |
| Mapk4 |
A |
T |
18: 74,063,647 (GRCm39) |
I525N |
probably benign |
Het |
| Megf6 |
T |
C |
4: 154,354,964 (GRCm39) |
F1457S |
probably benign |
Het |
| Mrm3 |
A |
T |
11: 76,141,173 (GRCm39) |
S394C |
probably damaging |
Het |
| Mtmr4 |
T |
G |
11: 87,489,690 (GRCm39) |
V71G |
probably damaging |
Het |
| Nek8 |
T |
C |
11: 78,067,422 (GRCm39) |
Y4C |
probably damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,260 (GRCm39) |
E20D |
probably benign |
Het |
| Or5ac21 |
T |
C |
16: 59,123,867 (GRCm39) |
M117T |
probably damaging |
Het |
| Or7g30 |
A |
T |
9: 19,352,988 (GRCm39) |
I260L |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,345,304 (GRCm39) |
T351A |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,749,480 (GRCm39) |
T49M |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,414,992 (GRCm39) |
D301G |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,707,803 (GRCm39) |
Q1455* |
probably null |
Het |
| Rbbp8 |
A |
T |
18: 11,855,290 (GRCm39) |
N505I |
possibly damaging |
Het |
| Rgs18 |
A |
G |
1: 144,631,738 (GRCm39) |
C125R |
probably benign |
Het |
| Rpap2 |
G |
A |
5: 107,751,471 (GRCm39) |
C105Y |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,490,233 (GRCm39) |
G570R |
possibly damaging |
Het |
| Slc14a1 |
A |
T |
18: 78,159,704 (GRCm39) |
M63K |
probably benign |
Het |
| Sp140l2 |
G |
A |
1: 85,224,671 (GRCm39) |
S288L |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,977,512 (GRCm39) |
D1319V |
probably benign |
Het |
| Tdp2 |
C |
T |
13: 25,020,010 (GRCm39) |
T99I |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,380,228 (GRCm39) |
S647T |
unknown |
Het |
| Tpd52l1 |
T |
G |
10: 31,234,009 (GRCm39) |
D48A |
possibly damaging |
Het |
| Ttll10 |
T |
C |
4: 156,131,618 (GRCm39) |
D169G |
probably damaging |
Het |
| Wars2 |
C |
A |
3: 99,124,146 (GRCm39) |
L336I |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,693,584 (GRCm39) |
W2906L |
|
Het |
| Xdh |
A |
T |
17: 74,216,312 (GRCm39) |
Y711* |
probably null |
Het |
| Xirp1 |
T |
A |
9: 119,846,890 (GRCm39) |
R664S |
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 |
|
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 |
|
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'- TGGAACTCACTGTTGGACTTACC -3'
(R):5'- ATCAGCGTAGGAGCCTAGACAC -3'
Sequencing Primer
(F):5'- GGACTTACCATTATTCTGAAAAGCCC -3'
(R):5'- ACTGCCTACCTGTGTAGCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation