Incidental Mutation 'R5336:Scara3'
| ID |
423538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scara3
|
| Ensembl Gene |
ENSMUSG00000034463 |
| Gene Name |
scavenger receptor class A, member 3 |
| Synonyms |
C130058N24Rik |
| MMRRC Submission |
042844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R5336 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
66156843-66191384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66168487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 377
(Y377H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042046]
|
| AlphaFold |
Q8C850 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042046
AA Change: Y377H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046525
Gene: ENSMUSG00000034463
AA Change: Y377H
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,100,495 (GRCm39) |
E289D |
probably damaging |
Het |
| Acyp1 |
A |
T |
12: 85,326,785 (GRCm39) |
F80I |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,945,400 (GRCm39) |
N226S |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,779,769 (GRCm39) |
S1704T |
probably damaging |
Het |
| Btnl5-ps |
T |
C |
17: 34,711,371 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1h |
T |
C |
17: 25,611,205 (GRCm39) |
H531R |
probably damaging |
Het |
| Chpf |
C |
A |
1: 75,452,351 (GRCm39) |
A368S |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,639,595 (GRCm39) |
V575A |
possibly damaging |
Het |
| Col5a3 |
A |
T |
9: 20,710,597 (GRCm39) |
F551I |
unknown |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,618,002 (GRCm39) |
|
probably null |
Het |
| Ddost |
T |
C |
4: 138,036,741 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,181,472 (GRCm39) |
F92L |
probably benign |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
T |
A |
17: 36,342,550 (GRCm39) |
N196I |
possibly damaging |
Het |
| Ighv9-2 |
A |
C |
12: 114,072,905 (GRCm39) |
F23V |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,553 (GRCm39) |
E2040G |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,150,017 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
C |
7: 5,331,118 (GRCm39) |
D426G |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,859 (GRCm39) |
F177L |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,534,064 (GRCm39) |
D1415G |
probably benign |
Het |
| Ppig |
T |
C |
2: 69,580,568 (GRCm39) |
S701P |
unknown |
Het |
| Ptprf |
A |
G |
4: 118,092,831 (GRCm39) |
I528T |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,254,129 (GRCm39) |
*176R |
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tarm1 |
T |
C |
7: 3,546,084 (GRCm39) |
Y61C |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,432,103 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
A |
T |
5: 65,083,145 (GRCm39) |
N477K |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,019,664 (GRCm39) |
T518M |
probably damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,258,574 (GRCm39) |
I494V |
possibly damaging |
Het |
| Wdr17 |
T |
A |
8: 55,085,353 (GRCm39) |
I1257F |
probably damaging |
Het |
| Zfp874a |
T |
C |
13: 67,590,799 (GRCm39) |
H295R |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACGGTGACATTGCGAAGG -3'
(R):5'- CATGAGGAGAACATGCATGACC -3'
Sequencing Primer
(F):5'- GACATTGCGAAGGATTTCTCC -3'
(R):5'- GGAGAACATGCATGACCTCCAATAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation