Incidental Mutation 'IGL00718:Scara3'
| ID |
13919 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.109)
|
| Stock # |
IGL00718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
66156843-66191384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 66168876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 247
(T247I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042046]
|
| AlphaFold |
Q8C850 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042046
AA Change: T247I
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046525
Gene: ENSMUSG00000034463
AA Change: T247I
| 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 |
|
| 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 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C9orf72 |
A |
T |
4: 35,213,015 (GRCm39) |
L220H |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,140,502 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,962,012 (GRCm39) |
E163G |
probably benign |
Het |
| Decr1 |
C |
A |
4: 15,933,056 (GRCm39) |
D37Y |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,755,613 (GRCm39) |
I282V |
probably benign |
Het |
| Fanci |
A |
G |
7: 79,093,922 (GRCm39) |
K1064R |
possibly damaging |
Het |
| Insrr |
G |
T |
3: 87,720,981 (GRCm39) |
|
probably null |
Het |
| Kcnt1 |
C |
T |
2: 25,782,419 (GRCm39) |
T186M |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,164,988 (GRCm39) |
I334M |
probably damaging |
Het |
| Mical3 |
G |
T |
6: 121,017,410 (GRCm39) |
H135Q |
probably damaging |
Het |
| Ms4a4d |
A |
T |
19: 11,535,335 (GRCm39) |
N211I |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,196,562 (GRCm39) |
V230A |
probably damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,577,874 (GRCm39) |
Y751H |
possibly damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,590,654 (GRCm39) |
T491A |
probably damaging |
Het |
| Snx19 |
T |
A |
9: 30,343,622 (GRCm39) |
L594Q |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,135,906 (GRCm39) |
V2251A |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,266,901 (GRCm39) |
S1895P |
probably benign |
Het |
| Vps4a |
A |
G |
8: 107,769,258 (GRCm39) |
N261S |
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 |
|
|
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 |
|
YA93:Scara3
|
UTSW |
14 |
66,168,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation