Incidental Mutation 'R5291:Scarf1'
| ID |
405160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scarf1
|
| Ensembl Gene |
ENSMUSG00000038188 |
| Gene Name |
scavenger receptor class F, member 1 |
| Synonyms |
SREC-I, SREC |
| MMRRC Submission |
042874-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5291 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75404366-75417408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75414900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 525
(S525P)
|
| 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: S525P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: S525P
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,823,394 (GRCm39) |
S328G |
probably damaging |
Het |
| Acot5 |
T |
G |
12: 84,120,293 (GRCm39) |
L216R |
probably benign |
Het |
| Ankrd6 |
A |
G |
4: 32,823,446 (GRCm39) |
L192P |
probably damaging |
Het |
| Atp6v1e1 |
C |
A |
6: 120,795,294 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
C |
9: 22,540,293 (GRCm39) |
Y358H |
probably damaging |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Camk2a |
A |
G |
18: 61,090,236 (GRCm39) |
K192R |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,171,256 (GRCm39) |
R223W |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,703,096 (GRCm39) |
F173I |
probably damaging |
Het |
| Cntrl |
A |
C |
2: 35,024,072 (GRCm39) |
I33L |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,800,738 (GRCm39) |
S633P |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,956,566 (GRCm39) |
H181R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,025,205 (GRCm39) |
S542G |
probably benign |
Het |
| Dnm2 |
T |
G |
9: 21,390,203 (GRCm39) |
L402R |
probably damaging |
Het |
| Fndc3b |
C |
A |
3: 27,697,144 (GRCm39) |
V23L |
probably benign |
Het |
| Gata4 |
A |
C |
14: 63,478,048 (GRCm39) |
F184V |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,072,268 (GRCm39) |
R304G |
probably damaging |
Het |
| Gm10563 |
TTTC |
TTTCCTTC |
4: 155,698,969 (GRCm39) |
|
probably benign |
Het |
| Gm26558 |
G |
A |
2: 70,491,873 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,922,874 (GRCm39) |
V1107I |
probably benign |
Het |
| Herpud2 |
C |
T |
9: 25,036,256 (GRCm39) |
G135S |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,429,747 (GRCm39) |
I441T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,793,015 (GRCm39) |
D2553G |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,467,416 (GRCm39) |
N43K |
possibly damaging |
Het |
| Or4c12 |
A |
T |
2: 89,773,780 (GRCm39) |
Y226* |
probably null |
Het |
| Or5k17 |
T |
C |
16: 58,746,764 (GRCm39) |
T57A |
possibly damaging |
Het |
| Paxbp1 |
C |
T |
16: 90,841,240 (GRCm39) |
M1I |
probably null |
Het |
| Phip |
A |
G |
9: 82,827,936 (GRCm39) |
Y97H |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,058,211 (GRCm39) |
I3774F |
probably damaging |
Het |
| Pramel11 |
G |
T |
4: 143,622,237 (GRCm39) |
P373T |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,151 (GRCm39) |
|
probably benign |
Het |
| Prss12 |
T |
C |
3: 123,299,112 (GRCm39) |
L628P |
probably damaging |
Het |
| Ptpre |
G |
A |
7: 135,280,030 (GRCm39) |
V578I |
probably benign |
Het |
| Qsox2 |
A |
T |
2: 26,107,710 (GRCm39) |
L261H |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,977,366 (GRCm39) |
V1327E |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,075,967 (GRCm39) |
S306P |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,993,888 (GRCm39) |
Q640R |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,815,023 (GRCm39) |
D175V |
probably benign |
Het |
| Senp7 |
T |
A |
16: 56,006,542 (GRCm39) |
Y982* |
probably null |
Het |
| Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,223,446 (GRCm39) |
K1375E |
possibly damaging |
Het |
| Spats2 |
G |
T |
15: 99,076,422 (GRCm39) |
A167S |
probably benign |
Het |
| Spen |
C |
A |
4: 141,215,390 (GRCm39) |
A481S |
unknown |
Het |
| Spred3 |
T |
A |
7: 28,867,255 (GRCm39) |
H47L |
probably damaging |
Het |
| Srsf4 |
T |
A |
4: 131,613,617 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
A |
T |
14: 87,743,234 (GRCm39) |
H394L |
probably benign |
Het |
| Terf1 |
A |
G |
1: 15,889,310 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
T |
10: 17,675,144 (GRCm39) |
D99V |
possibly damaging |
Het |
| Ugt1a7c |
A |
T |
1: 88,023,231 (GRCm39) |
N130I |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,781,752 (GRCm39) |
D331V |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,789,139 (GRCm39) |
I744T |
probably damaging |
Het |
| Ythdc1 |
A |
G |
5: 86,983,547 (GRCm39) |
D664G |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAAGCTACCCTGGGTGAC -3'
(R):5'- GTTCACTACAAGCTCTGTGAGGAC -3'
Sequencing Primer
(F):5'- TGACAGGTAAGTGGGCACTG -3'
(R):5'- ACAGGATGTTTCTTTGTTCTGAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation