Incidental Mutation 'YA93:Scara3'
| ID |
87 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scara3
|
| Ensembl Gene |
ENSMUSG00000034463 |
| Gene Name |
scavenger receptor class A, member 3 |
| Synonyms |
C130058N24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
YA93
of strain
inept
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
66156843-66191384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 66168398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 406
(M406I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042046]
|
| AlphaFold |
Q8C850 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042046
AA Change: M406I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046525
Gene: ENSMUSG00000034463
AA Change: M406I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
coiled coil region
|
117 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
311 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
455 |
513 |
3.1e-12 |
PFAM |
|
Pfam:Collagen
|
499 |
558 |
4.2e-11 |
PFAM |
|
Pfam:Collagen
|
544 |
606 |
2.9e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.0913 |
| Coding Region Coverage |
|
| Validation Efficiency |
88% (101/115) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
C |
T |
1: 34,771,298 (GRCm39) |
R1202W |
probably benign |
Het |
| B4galnt4 |
T |
A |
7: 140,647,324 (GRCm39) |
I358K |
possibly damaging |
Homo |
| Ccdc168 |
A |
G |
1: 44,104,245 (GRCm39) |
|
probably benign |
Het |
| Chodl |
A |
G |
16: 78,738,170 (GRCm39) |
H46R |
probably benign |
Homo |
| Cubn |
C |
A |
2: 13,388,803 (GRCm39) |
R1468L |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,205,201 (GRCm39) |
|
probably benign |
Het |
| Dntt |
A |
C |
19: 41,041,626 (GRCm39) |
M437L |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,821,594 (GRCm39) |
P157S |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,229,057 (GRCm39) |
G812D |
probably damaging |
Het |
| Osbpl5 |
T |
A |
7: 143,247,607 (GRCm39) |
I720F |
probably benign |
Homo |
| Pbld2 |
T |
A |
10: 62,890,224 (GRCm39) |
Y211N |
possibly damaging |
Het |
| Peg3 |
T |
A |
7: 6,714,646 (GRCm39) |
E192V |
probably damaging |
Het |
| Ptbp3 |
T |
C |
4: 59,524,413 (GRCm39) |
T38A |
possibly damaging |
Het |
| Rpap3 |
T |
A |
15: 97,591,114 (GRCm39) |
E241V |
possibly damaging |
Het |
| Serpinf2 |
C |
A |
11: 75,323,510 (GRCm39) |
V399L |
probably benign |
Het |
|
| Other mutations in Scara3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Scara3
|
APN |
14 |
66,170,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00646:Scara3
|
APN |
14 |
66,158,605 (GRCm39) |
nonsense |
probably null |
|
|
IGL00718:Scara3
|
APN |
14 |
66,168,876 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01948:Scara3
|
APN |
14 |
66,168,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01979:Scara3
|
APN |
14 |
66,168,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02399:Scara3
|
APN |
14 |
66,170,559 (GRCm39) |
nonsense |
probably null |
|
|
IGL02939:Scara3
|
APN |
14 |
66,169,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02945:Scara3
|
APN |
14 |
66,168,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03075:Scara3
|
APN |
14 |
66,168,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03100:Scara3
|
APN |
14 |
66,168,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03156:Scara3
|
APN |
14 |
66,168,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03179:Scara3
|
APN |
14 |
66,168,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
condor
|
UTSW |
14 |
66,168,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Scara3
|
UTSW |
14 |
66,173,851 (GRCm39) |
missense |
probably benign |
|
|
R0062:Scara3
|
UTSW |
14 |
66,168,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Scara3
|
UTSW |
14 |
66,168,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0124:Scara3
|
UTSW |
14 |
66,168,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0349:Scara3
|
UTSW |
14 |
66,169,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1584:Scara3
|
UTSW |
14 |
66,158,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Scara3
|
UTSW |
14 |
66,190,950 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
R5336:Scara3
|
UTSW |
14 |
66,168,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6307:Scara3
|
UTSW |
14 |
66,175,710 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6420:Scara3
|
UTSW |
14 |
66,175,701 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6610:Scara3
|
UTSW |
14 |
66,168,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7159:Scara3
|
UTSW |
14 |
66,158,229 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7208:Scara3
|
UTSW |
14 |
66,168,715 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7246:Scara3
|
UTSW |
14 |
66,169,093 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7315:Scara3
|
UTSW |
14 |
66,168,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7324:Scara3
|
UTSW |
14 |
66,168,865 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7497:Scara3
|
UTSW |
14 |
66,168,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7504:Scara3
|
UTSW |
14 |
66,168,780 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7554:Scara3
|
UTSW |
14 |
66,158,299 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8143:Scara3
|
UTSW |
14 |
66,169,269 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9043:Scara3
|
UTSW |
14 |
66,169,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9226:Scara3
|
UTSW |
14 |
66,169,233 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9363:Scara3
|
UTSW |
14 |
66,168,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9730:Scara3
|
UTSW |
14 |
66,168,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a G to T transversion at position 1460 of the Scara3 transcript in exon 5 of 6 total exons. The mutated nucleotide causes a methionine to isoleucine substitution at amino acid 406 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Scara3 gene encodes a 606 amino acid protein known as the scavenger receptor class A member 3 (SCARA3). SCARA3 is a single-pass type II membrane protein present in the endoplasmic reticulum (ER) and Golgi, and seems to protect cells by scavenging oxidative molecules or harmful products of oxidation. SCARA3 contains two collagen-like domains at amino acids 456-558 and 559-601, a transmembrane domain at amino acids 57-77, and is heavily glycosylated (Uniprot Q8C850).
The M406I change occurs in the extracellular domain of the protein and is predicted to be possibly damaging by the PolyPhen program. |
| Posted On |
2010-03-02 |
Incidental Mutation