Incidental Mutation 'IGL01695:Scarf1'
| ID |
104244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scarf1
|
| Ensembl Gene |
ENSMUSG00000038188 |
| Gene Name |
scavenger receptor class F, member 1 |
| Synonyms |
SREC-I, SREC |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01695
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75404366-75417408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75412783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 384
(N384S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042808]
[ENSMUST00000118243]
[ENSMUST00000123819]
|
| AlphaFold |
Q5ND28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042808
AA Change: N384S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: N384S
| 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 damaging
Transcript: ENSMUST00000118243
AA Change: N384S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188
AA Change: N384S
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
T |
A |
7: 81,126,687 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,167 (GRCm39) |
T1483A |
probably benign |
Het |
| Arl5a |
A |
T |
2: 52,302,117 (GRCm39) |
I99N |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,167,435 (GRCm39) |
G1279R |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,479,434 (GRCm39) |
N43S |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,156,019 (GRCm39) |
V177A |
probably benign |
Het |
| Calhm5 |
A |
G |
10: 33,968,198 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,167,612 (GRCm39) |
V1795M |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,819,904 (GRCm39) |
E353G |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,236,194 (GRCm39) |
I976L |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,492,841 (GRCm39) |
S551R |
probably damaging |
Het |
| Cyp2b19 |
C |
T |
7: 26,458,489 (GRCm39) |
T68I |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,626,889 (GRCm39) |
E864D |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,192,093 (GRCm39) |
S312P |
probably damaging |
Het |
| Gm6408 |
A |
G |
5: 146,418,939 (GRCm39) |
|
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,082,263 (GRCm39) |
|
probably null |
Het |
| Myh6 |
T |
C |
14: 55,194,870 (GRCm39) |
T662A |
probably benign |
Het |
| Ntn1 |
T |
C |
11: 68,117,430 (GRCm39) |
D473G |
probably benign |
Het |
| Or51a7 |
T |
C |
7: 102,614,790 (GRCm39) |
F161S |
probably damaging |
Het |
| Piezo1 |
A |
T |
8: 123,222,248 (GRCm39) |
C961S |
possibly damaging |
Het |
| Pik3c2a |
T |
C |
7: 116,016,753 (GRCm39) |
T335A |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,462,274 (GRCm39) |
Y140* |
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,041,417 (GRCm39) |
I1749V |
possibly damaging |
Het |
| Ppp1r9a |
T |
A |
6: 5,064,003 (GRCm39) |
N555K |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 116,805,008 (GRCm39) |
H174Q |
probably benign |
Het |
| Reln |
G |
A |
5: 22,125,436 (GRCm39) |
T2749M |
probably damaging |
Het |
| Scrt1 |
T |
A |
15: 76,403,150 (GRCm39) |
H280L |
unknown |
Het |
| Serpina1f |
C |
A |
12: 103,659,943 (GRCm39) |
C113F |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,639,742 (GRCm39) |
|
probably benign |
Het |
| Strc |
A |
G |
2: 121,205,779 (GRCm39) |
L830P |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,198 (GRCm39) |
S82G |
probably benign |
Het |
| Tmem217 |
T |
A |
17: 29,745,322 (GRCm39) |
H136L |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,773,087 (GRCm39) |
E715G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,360 (GRCm39) |
M2182K |
probably damaging |
Het |
| Ube2d1 |
T |
C |
10: 71,098,082 (GRCm39) |
D12G |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,621,086 (GRCm39) |
D195G |
probably benign |
Het |
|
| Other mutations in Scarf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R7113:Scarf1
|
UTSW |
11 |
75,416,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation