Incidental Mutation 'R7113:Scarf1'
ID |
551638 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scarf1
|
Ensembl Gene |
ENSMUSG00000038188 |
Gene Name |
scavenger receptor class F, member 1 |
Synonyms |
SREC-I, SREC |
MMRRC Submission |
045205-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7113 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
75404366-75417408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75416904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 782
(E782G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044248
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042808]
[ENSMUST00000118243]
[ENSMUST00000123819]
|
AlphaFold |
Q5ND28 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042808
AA Change: E782G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044248 Gene: ENSMUSG00000038188 AA Change: E782G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EGF
|
54 |
90 |
2.16e1 |
SMART |
EGF
|
101 |
133 |
1.36e1 |
SMART |
EGF_like
|
165 |
193 |
4.55e1 |
SMART |
EGF_Lam
|
225 |
263 |
8.78e-2 |
SMART |
EGF_like
|
262 |
296 |
4.93e1 |
SMART |
EGF
|
307 |
341 |
2.69e1 |
SMART |
EGF
|
352 |
384 |
2.25e1 |
SMART |
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
low complexity region
|
520 |
535 |
N/A |
INTRINSIC |
low complexity region
|
791 |
805 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118243
|
SMART Domains |
Protein: ENSMUSP00000114090 Gene: ENSMUSG00000038188
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EGF
|
54 |
90 |
2.16e1 |
SMART |
EGF
|
101 |
133 |
1.36e1 |
SMART |
EGF_like
|
165 |
193 |
4.55e1 |
SMART |
EGF_Lam
|
225 |
263 |
8.78e-2 |
SMART |
EGF_like
|
262 |
296 |
4.93e1 |
SMART |
EGF
|
307 |
341 |
2.69e1 |
SMART |
EGF
|
352 |
384 |
2.25e1 |
SMART |
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123819
|
Meta Mutation Damage Score |
0.0826 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
95% (53/56) |
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 a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] PHENOTYPE: Homozygous null mice are viable and fertile with no abnormalities detected in plasma glucose, cholesterol, or triglycerides, or in the brain, lung, heart, kidney, liver, or testes. Mice homozygous for a targeted allele exhibit impaired clearance of apoptotic cells and autoimmune disease. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
T |
C |
13: 104,449,267 (GRCm39) |
S226P |
probably benign |
Het |
Adarb2 |
T |
C |
13: 8,781,881 (GRCm39) |
Y586H |
probably damaging |
Het |
Ano7 |
A |
T |
1: 93,313,342 (GRCm39) |
E160V |
probably benign |
Het |
Apob |
G |
C |
12: 8,045,539 (GRCm39) |
A895P |
probably damaging |
Het |
Ccdc157 |
T |
C |
11: 4,098,889 (GRCm39) |
T206A |
possibly damaging |
Het |
Ceacam18 |
A |
G |
7: 43,291,400 (GRCm39) |
N281D |
probably benign |
Het |
Chil4 |
T |
C |
3: 106,110,083 (GRCm39) |
D337G |
probably damaging |
Het |
Chil4 |
T |
G |
3: 106,121,664 (GRCm39) |
K62Q |
probably benign |
Het |
Cic |
A |
T |
7: 24,972,869 (GRCm39) |
I867F |
probably benign |
Het |
Cntln |
A |
G |
4: 84,968,064 (GRCm39) |
E761G |
probably damaging |
Het |
Cyp2d26 |
T |
A |
15: 82,674,403 (GRCm39) |
Y493F |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,075,788 (GRCm39) |
F3026L |
probably benign |
Het |
Ehd3 |
T |
A |
17: 74,137,179 (GRCm39) |
D449E |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Herc2 |
T |
G |
7: 55,853,597 (GRCm39) |
D3696E |
probably damaging |
Het |
Hivep3 |
T |
A |
4: 119,955,566 (GRCm39) |
I1294N |
probably damaging |
Het |
Il19 |
T |
C |
1: 130,862,732 (GRCm39) |
I139V |
probably benign |
Het |
Jmjd1c |
T |
A |
10: 66,993,780 (GRCm39) |
I87N |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,513,224 (GRCm39) |
Y392H |
probably damaging |
Het |
Kcnv2 |
T |
C |
19: 27,301,448 (GRCm39) |
L433P |
probably damaging |
Het |
Kif9 |
A |
T |
9: 110,335,732 (GRCm39) |
N378Y |
probably damaging |
Het |
Lonrf1 |
A |
T |
8: 36,697,664 (GRCm39) |
V440E |
probably benign |
Het |
Lrrc37 |
A |
G |
11: 103,509,625 (GRCm39) |
I781T |
unknown |
Het |
Manea |
A |
T |
4: 26,336,718 (GRCm39) |
L186Q |
probably damaging |
Het |
Mas1 |
A |
G |
17: 13,061,324 (GRCm39) |
I33T |
probably benign |
Het |
Med13l |
A |
G |
5: 118,864,330 (GRCm39) |
S389G |
probably benign |
Het |
Nxph3 |
T |
C |
11: 95,401,892 (GRCm39) |
N174S |
possibly damaging |
Het |
Or1l4 |
T |
A |
2: 37,091,568 (GRCm39) |
F105Y |
possibly damaging |
Het |
Or8g52 |
G |
C |
9: 39,630,973 (GRCm39) |
C150S |
probably benign |
Het |
Pcdha5 |
A |
G |
18: 37,094,757 (GRCm39) |
D422G |
probably benign |
Het |
Pias4 |
A |
C |
10: 80,990,287 (GRCm39) |
V416G |
possibly damaging |
Het |
Pik3cg |
T |
A |
12: 32,255,666 (GRCm39) |
Y107F |
probably damaging |
Het |
Plcg1 |
T |
A |
2: 160,590,203 (GRCm39) |
W156R |
possibly damaging |
Het |
Plcl2 |
A |
G |
17: 50,913,492 (GRCm39) |
D167G |
probably damaging |
Het |
Podxl |
T |
A |
6: 31,501,668 (GRCm39) |
|
probably null |
Het |
Ppp1r2 |
T |
C |
16: 31,073,536 (GRCm39) |
D197G |
probably benign |
Het |
Ptprs |
C |
G |
17: 56,758,697 (GRCm39) |
V175L |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,766,025 (GRCm39) |
S368T |
probably benign |
Het |
Rdh8 |
G |
T |
9: 20,736,623 (GRCm39) |
R230L |
probably benign |
Het |
Rpl35 |
A |
C |
2: 38,894,168 (GRCm39) |
L58R |
probably damaging |
Het |
Rtp3 |
A |
C |
9: 110,815,767 (GRCm39) |
C199W |
probably damaging |
Het |
S100pbp |
G |
A |
4: 129,075,896 (GRCm39) |
T143I |
probably damaging |
Het |
Slc30a9 |
T |
C |
5: 67,484,205 (GRCm39) |
V114A |
probably benign |
Het |
Speer1c |
G |
A |
5: 10,292,977 (GRCm39) |
P189S |
|
Het |
Stpg2 |
G |
A |
3: 139,407,535 (GRCm39) |
|
probably null |
Het |
Tdpoz1 |
T |
C |
3: 93,578,113 (GRCm39) |
S224G |
possibly damaging |
Het |
Triml2 |
T |
A |
8: 43,636,370 (GRCm39) |
Y52N |
probably benign |
Het |
Trpm2 |
A |
T |
10: 77,783,765 (GRCm39) |
I236N |
probably damaging |
Het |
Unc5c |
A |
G |
3: 141,507,054 (GRCm39) |
D602G |
probably benign |
Het |
Upk1a |
A |
G |
7: 30,309,236 (GRCm39) |
S29P |
probably damaging |
Het |
Vmn2r54 |
A |
G |
7: 12,350,001 (GRCm39) |
L527P |
probably damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,399,011 (GRCm39) |
|
probably null |
Het |
Vstm2l |
G |
T |
2: 157,756,649 (GRCm39) |
|
probably benign |
Het |
Vwf |
G |
T |
6: 125,632,007 (GRCm39) |
G1952V |
|
Het |
Zfand6 |
A |
C |
7: 84,265,077 (GRCm39) |
I208S |
probably damaging |
Het |
Zfp236 |
A |
G |
18: 82,638,462 (GRCm39) |
I1386T |
possibly damaging |
Het |
|
Other mutations in Scarf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01695:Scarf1
|
APN |
11 |
75,412,783 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02968:Scarf1
|
APN |
11 |
75,414,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R0078:Scarf1
|
UTSW |
11 |
75,405,988 (GRCm39) |
splice site |
probably benign |
|
R0606:Scarf1
|
UTSW |
11 |
75,405,174 (GRCm39) |
missense |
probably damaging |
0.98 |
R0834:Scarf1
|
UTSW |
11 |
75,405,229 (GRCm39) |
nonsense |
probably null |
|
R1715:Scarf1
|
UTSW |
11 |
75,414,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Scarf1
|
UTSW |
11 |
75,416,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R2483:Scarf1
|
UTSW |
11 |
75,406,117 (GRCm39) |
missense |
probably damaging |
0.98 |
R3699:Scarf1
|
UTSW |
11 |
75,405,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R3831:Scarf1
|
UTSW |
11 |
75,406,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R3832:Scarf1
|
UTSW |
11 |
75,406,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R3833:Scarf1
|
UTSW |
11 |
75,406,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R4957:Scarf1
|
UTSW |
11 |
75,416,460 (GRCm39) |
missense |
probably benign |
0.10 |
R4990:Scarf1
|
UTSW |
11 |
75,416,841 (GRCm39) |
missense |
probably benign |
0.00 |
R4992:Scarf1
|
UTSW |
11 |
75,416,841 (GRCm39) |
missense |
probably benign |
0.00 |
R4992:Scarf1
|
UTSW |
11 |
75,413,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R5291:Scarf1
|
UTSW |
11 |
75,414,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R5330:Scarf1
|
UTSW |
11 |
75,406,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R5331:Scarf1
|
UTSW |
11 |
75,406,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R5537:Scarf1
|
UTSW |
11 |
75,416,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R5583:Scarf1
|
UTSW |
11 |
75,404,842 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5592:Scarf1
|
UTSW |
11 |
75,416,513 (GRCm39) |
missense |
probably benign |
0.08 |
R6130:Scarf1
|
UTSW |
11 |
75,416,565 (GRCm39) |
missense |
probably benign |
|
R6289:Scarf1
|
UTSW |
11 |
75,416,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6313:Scarf1
|
UTSW |
11 |
75,411,141 (GRCm39) |
missense |
probably benign |
0.02 |
R6360:Scarf1
|
UTSW |
11 |
75,406,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R6944:Scarf1
|
UTSW |
11 |
75,413,032 (GRCm39) |
missense |
probably benign |
0.00 |
R7624:Scarf1
|
UTSW |
11 |
75,405,242 (GRCm39) |
splice site |
probably null |
|
R8191:Scarf1
|
UTSW |
11 |
75,413,065 (GRCm39) |
missense |
probably benign |
0.01 |
R8258:Scarf1
|
UTSW |
11 |
75,414,689 (GRCm39) |
missense |
probably damaging |
0.97 |
R8259:Scarf1
|
UTSW |
11 |
75,414,689 (GRCm39) |
missense |
probably damaging |
0.97 |
R8433:Scarf1
|
UTSW |
11 |
75,411,858 (GRCm39) |
critical splice donor site |
probably null |
|
R9003:Scarf1
|
UTSW |
11 |
75,406,069 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9233:Scarf1
|
UTSW |
11 |
75,416,720 (GRCm39) |
missense |
probably benign |
|
R9292:Scarf1
|
UTSW |
11 |
75,406,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R9345:Scarf1
|
UTSW |
11 |
75,404,401 (GRCm39) |
utr 5 prime |
probably benign |
|
Z1088:Scarf1
|
UTSW |
11 |
75,416,316 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Scarf1
|
UTSW |
11 |
75,406,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTCGTTTGGGAAACTACCAG -3'
(R):5'- TCCACAGCAGCTTCAGCATC -3'
Sequencing Primer
(F):5'- TGGATCCCAAAGTAAAGAGTGCTATC -3'
(R):5'- GCATCCCGCTCTCCCTG -3'
|
Posted On |
2019-05-15 |