Incidental Mutation 'R7603:Sele'
| ID |
588095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sele
|
| Ensembl Gene |
ENSMUSG00000026582 |
| Gene Name |
selectin, endothelial cell |
| Synonyms |
Elam, CD62E, E-selectin |
| MMRRC Submission |
045713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R7603 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
163875773-163885246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 163877084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 120
(E120G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027874]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027874
AA Change: E120G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027874
Gene: ENSMUSG00000026582
AA Change: E120G
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
21 |
146 |
1.45e-21 |
SMART |
|
EGF
|
149 |
182 |
2.83e-5 |
SMART |
|
CCP
|
187 |
245 |
1.49e-9 |
SMART |
|
CCP
|
250 |
307 |
5.43e-12 |
SMART |
|
CCP
|
312 |
370 |
1.82e-13 |
SMART |
|
CCP
|
375 |
433 |
1.36e-12 |
SMART |
|
CCP
|
438 |
496 |
6e-14 |
SMART |
|
CCP
|
501 |
555 |
1.39e-9 |
SMART |
|
transmembrane domain
|
565 |
587 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7950 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit mild defects in neutrophil infiltration during inflammatory responses. When combined with other selectin gene knockouts, more severe defects are present. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,071,084 (GRCm39) |
K1536E |
possibly damaging |
Het |
| Abhd16a |
T |
A |
17: 35,320,936 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
C |
T |
3: 30,652,696 (GRCm39) |
A133T |
probably benign |
Het |
| Adcy10 |
C |
T |
1: 165,391,806 (GRCm39) |
R1329W |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,307,656 (GRCm39) |
M280V |
possibly damaging |
Het |
| Canx |
A |
T |
11: 50,202,455 (GRCm39) |
D50E |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,338,696 (GRCm39) |
D470E |
probably damaging |
Het |
| Cyp2c23 |
C |
T |
19: 44,003,369 (GRCm39) |
D269N |
probably damaging |
Het |
| Ddah1 |
T |
C |
3: 145,464,774 (GRCm39) |
V53A |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Fastkd5 |
A |
G |
2: 130,456,961 (GRCm39) |
V543A |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,657,743 (GRCm39) |
G295R |
probably damaging |
Het |
| Frs2 |
T |
C |
10: 116,909,968 (GRCm39) |
T465A |
probably benign |
Het |
| Glipr1 |
A |
T |
10: 111,824,737 (GRCm39) |
N156K |
probably benign |
Het |
| Gnpnat1 |
C |
T |
14: 45,622,074 (GRCm39) |
V40I |
probably benign |
Het |
| H2-Q7 |
T |
C |
17: 35,658,939 (GRCm39) |
L130P |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,358,665 (GRCm39) |
L86* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,275,679 (GRCm39) |
L2778P |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,284,503 (GRCm39) |
I3487N |
possibly damaging |
Het |
| Htra4 |
T |
G |
8: 25,515,716 (GRCm39) |
I441L |
probably benign |
Het |
| Ints7 |
A |
T |
1: 191,328,336 (GRCm39) |
H203L |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,142,676 (GRCm39) |
T601A |
possibly damaging |
Het |
| Lin7b |
T |
C |
7: 45,017,856 (GRCm39) |
|
probably benign |
Het |
| Lmbr1l |
G |
A |
15: 98,806,572 (GRCm39) |
Q280* |
probably null |
Het |
| Lpin3 |
G |
T |
2: 160,745,674 (GRCm39) |
|
probably null |
Het |
| Map1lc3b |
A |
T |
8: 122,320,268 (GRCm39) |
H27L |
possibly damaging |
Het |
| Mfsd14a |
C |
A |
3: 116,427,532 (GRCm39) |
V369F |
probably damaging |
Het |
| Ndufa12 |
C |
T |
10: 94,056,641 (GRCm39) |
A123V |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,350,288 (GRCm39) |
F929L |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,053,679 (GRCm39) |
D279E |
probably benign |
Het |
| Or52m2 |
A |
G |
7: 102,264,145 (GRCm39) |
V17A |
probably benign |
Het |
| Parp1 |
T |
C |
1: 180,427,777 (GRCm39) |
|
probably null |
Het |
| Phc3 |
T |
C |
3: 30,961,601 (GRCm39) |
I944V |
probably damaging |
Het |
| Phf20 |
C |
T |
2: 156,144,771 (GRCm39) |
A793V |
probably benign |
Het |
| Phf21a |
A |
C |
2: 92,187,352 (GRCm39) |
R540S |
probably benign |
Het |
| Pogk |
A |
G |
1: 166,229,480 (GRCm39) |
C124R |
probably benign |
Het |
| Rif1 |
C |
T |
2: 51,966,187 (GRCm39) |
S93L |
probably damaging |
Het |
| Sanbr |
T |
C |
11: 23,516,191 (GRCm39) |
T709A |
probably benign |
Het |
| Slc4a1ap |
T |
C |
5: 31,703,539 (GRCm39) |
L49P |
|
Het |
| Snap47 |
T |
C |
11: 59,319,373 (GRCm39) |
D255G |
probably damaging |
Het |
| Tcstv3 |
T |
C |
13: 120,779,146 (GRCm39) |
V15A |
probably damaging |
Het |
| Tmcc1 |
A |
T |
6: 116,020,092 (GRCm39) |
Y453* |
probably null |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,901,486 (GRCm39) |
V459E |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,790 (GRCm39) |
L209Q |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,576,585 (GRCm39) |
S998P |
probably damaging |
Het |
|
| Other mutations in Sele |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Sele
|
APN |
1 |
163,879,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Sele
|
APN |
1 |
163,880,662 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02243:Sele
|
APN |
1 |
163,880,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02688:Sele
|
APN |
1 |
163,877,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03022:Sele
|
APN |
1 |
163,882,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0433:Sele
|
UTSW |
1 |
163,876,813 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0487:Sele
|
UTSW |
1 |
163,881,184 (GRCm39) |
nonsense |
probably null |
|
|
R0678:Sele
|
UTSW |
1 |
163,882,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1295:Sele
|
UTSW |
1 |
163,878,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1296:Sele
|
UTSW |
1 |
163,878,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Sele
|
UTSW |
1 |
163,881,420 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1730:Sele
|
UTSW |
1 |
163,882,192 (GRCm39) |
missense |
probably benign |
|
|
R2102:Sele
|
UTSW |
1 |
163,881,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2384:Sele
|
UTSW |
1 |
163,878,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3001:Sele
|
UTSW |
1 |
163,881,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Sele
|
UTSW |
1 |
163,881,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5851:Sele
|
UTSW |
1 |
163,877,143 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6164:Sele
|
UTSW |
1 |
163,879,386 (GRCm39) |
splice site |
probably null |
|
|
R6239:Sele
|
UTSW |
1 |
163,878,377 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6406:Sele
|
UTSW |
1 |
163,878,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6411:Sele
|
UTSW |
1 |
163,876,984 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6731:Sele
|
UTSW |
1 |
163,881,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6851:Sele
|
UTSW |
1 |
163,881,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7291:Sele
|
UTSW |
1 |
163,881,437 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7328:Sele
|
UTSW |
1 |
163,876,844 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7366:Sele
|
UTSW |
1 |
163,876,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7393:Sele
|
UTSW |
1 |
163,881,492 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7431:Sele
|
UTSW |
1 |
163,879,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7803:Sele
|
UTSW |
1 |
163,878,263 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7807:Sele
|
UTSW |
1 |
163,881,462 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8323:Sele
|
UTSW |
1 |
163,879,207 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9018:Sele
|
UTSW |
1 |
163,881,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Sele
|
UTSW |
1 |
163,876,975 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9630:Sele
|
UTSW |
1 |
163,879,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0005:Sele
|
UTSW |
1 |
163,876,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Sele
|
UTSW |
1 |
163,881,180 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTGGCAATTCAGAACAAGG -3'
(R):5'- GGCATGCCAGATACAAGTTCC -3'
Sequencing Primer
(F):5'- GGAAGAGATCAACTACCTTAACTCC -3'
(R):5'- CAGATACAAGTTCCAGTCTCATCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation