Incidental Mutation 'R3831:Scarf1'
| ID |
274021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scarf1
|
| Ensembl Gene |
ENSMUSG00000038188 |
| Gene Name |
scavenger receptor class F, member 1 |
| Synonyms |
SREC-I, SREC |
| MMRRC Submission |
040777-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3831 (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 75406078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 121
(C121R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042808]
[ENSMUST00000042972]
[ENSMUST00000118243]
[ENSMUST00000123819]
|
| AlphaFold |
Q5ND28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042808
AA Change: C121R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: C121R
| 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: ENSMUST00000042972
|
| SMART Domains |
Protein: ENSMUSP00000037238
Gene: ENSMUSG00000038195
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
|
Pfam:Jnk-SapK_ap_N
|
27 |
195 |
2.1e-16 |
PFAM |
|
Pfam:RILP
|
223 |
281 |
1.1e-21 |
PFAM |
|
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118243
AA Change: C121R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188
AA Change: C121R
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156923
|
| Meta Mutation Damage Score |
0.9626 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,880,992 (GRCm39) |
T527A |
unknown |
Het |
| Bcat1 |
T |
A |
6: 144,955,834 (GRCm39) |
D349V |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,581,424 (GRCm39) |
S1727P |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,986,236 (GRCm39) |
I338F |
probably damaging |
Het |
| Cemip2 |
T |
G |
19: 21,825,315 (GRCm39) |
S1204R |
probably damaging |
Het |
| Cibar2 |
T |
A |
8: 120,901,633 (GRCm39) |
Y24F |
probably damaging |
Het |
| Cyb5d2 |
G |
T |
11: 72,686,349 (GRCm39) |
S80R |
possibly damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,152,333 (GRCm39) |
D485G |
probably benign |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
| Dpp9 |
A |
T |
17: 56,506,113 (GRCm39) |
F429I |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,389,486 (GRCm39) |
K73* |
probably null |
Het |
| Hao1 |
A |
T |
2: 134,364,925 (GRCm39) |
V234D |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,235,991 (GRCm39) |
Y517C |
probably benign |
Het |
| Iglv2 |
A |
T |
16: 19,079,593 (GRCm39) |
M1K |
probably null |
Het |
| Inpp5j |
T |
C |
11: 3,450,229 (GRCm39) |
D228G |
probably damaging |
Het |
| Itih5 |
A |
G |
2: 10,256,081 (GRCm39) |
D849G |
possibly damaging |
Het |
| Itpkb |
T |
C |
1: 180,161,260 (GRCm39) |
V462A |
probably benign |
Het |
| Kif26b |
GAAA |
GAA |
1: 178,744,181 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
G |
GGGC |
11: 5,151,794 (GRCm39) |
|
probably benign |
Het |
| Lzic |
G |
C |
4: 149,573,185 (GRCm39) |
E112D |
probably null |
Het |
| Mageh1 |
A |
T |
X: 151,820,004 (GRCm39) |
W111R |
probably damaging |
Het |
| Mapk7 |
A |
G |
11: 61,380,680 (GRCm39) |
S641P |
possibly damaging |
Het |
| Mapt |
A |
T |
11: 104,177,961 (GRCm39) |
Q38L |
possibly damaging |
Het |
| Med12 |
C |
A |
X: 100,339,498 (GRCm39) |
P2037Q |
possibly damaging |
Het |
| Med22 |
A |
G |
2: 26,800,379 (GRCm39) |
S17P |
probably damaging |
Het |
| Melk |
C |
A |
4: 44,345,021 (GRCm39) |
Q384K |
probably benign |
Het |
| Morc2b |
C |
T |
17: 33,356,233 (GRCm39) |
S513N |
probably benign |
Het |
| Nap1l3 |
A |
G |
X: 121,305,995 (GRCm39) |
V241A |
possibly damaging |
Het |
| Or2t45 |
T |
A |
11: 58,669,571 (GRCm39) |
|
probably null |
Het |
| Or56a4 |
A |
G |
7: 104,806,589 (GRCm39) |
F100S |
probably damaging |
Het |
| Or9e1 |
T |
G |
11: 58,732,686 (GRCm39) |
F249V |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,359,762 (GRCm39) |
S278P |
probably damaging |
Het |
| Pgc |
C |
A |
17: 48,040,236 (GRCm39) |
F93L |
probably null |
Het |
| Phf14 |
A |
G |
6: 11,933,873 (GRCm39) |
|
probably null |
Het |
| Pja2 |
T |
C |
17: 64,616,397 (GRCm39) |
D166G |
probably benign |
Het |
| Rgs5 |
A |
G |
1: 169,504,470 (GRCm39) |
Y40C |
probably benign |
Het |
| Rsad1 |
A |
G |
11: 94,434,130 (GRCm39) |
V366A |
probably benign |
Het |
| S100a10 |
T |
C |
3: 93,471,680 (GRCm39) |
V88A |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,528,028 (GRCm39) |
S821P |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,944,605 (GRCm39) |
V76A |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,959,849 (GRCm39) |
C368* |
probably null |
Het |
| Sema3e |
T |
A |
5: 14,276,496 (GRCm39) |
C294S |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
| Smarca5 |
A |
T |
8: 81,455,123 (GRCm39) |
N199K |
probably damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,132 (GRCm39) |
D442V |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,008,793 (GRCm39) |
I183N |
probably damaging |
Het |
| Tcerg1 |
G |
T |
18: 42,701,554 (GRCm39) |
R872L |
probably damaging |
Het |
| Tekt1 |
T |
C |
11: 72,245,645 (GRCm39) |
N170S |
probably benign |
Het |
| Thsd1 |
T |
G |
8: 22,733,132 (GRCm39) |
S60A |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,219,209 (GRCm39) |
|
probably null |
Het |
| Usp28 |
A |
G |
9: 48,946,938 (GRCm39) |
T505A |
probably benign |
Het |
| Zcchc17 |
T |
C |
4: 130,232,317 (GRCm39) |
D62G |
probably benign |
Het |
| Zfp445 |
T |
G |
9: 122,681,541 (GRCm39) |
E800A |
probably damaging |
Het |
| Zranb1 |
C |
T |
7: 132,584,505 (GRCm39) |
A591V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGCTGCCAGATGTTCTC -3'
(R):5'- ATACACAGGTTCCAGTGGC -3'
Sequencing Primer
(F):5'- AGGAGCAAGACTGTGTCCTCTTC -3'
(R):5'- AGTGGCCTGGTCACAGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation