Incidental Mutation 'R3699:Scarf1'
| ID |
269925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scarf1
|
| Ensembl Gene |
ENSMUSG00000038188 |
| Gene Name |
scavenger receptor class F, member 1 |
| Synonyms |
SREC-I, SREC |
| MMRRC Submission |
040692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3699 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75404366-75417408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75405195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 78
(C78F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000042808]
[ENSMUST00000042972]
[ENSMUST00000102510]
[ENSMUST00000118243]
[ENSMUST00000123819]
|
| AlphaFold |
Q5ND28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018449
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRO8NT
|
58 |
209 |
1.6e-84 |
PFAM |
|
low complexity region
|
369 |
388 |
N/A |
INTRINSIC |
|
Pfam:PROCN
|
393 |
801 |
3.6e-226 |
PFAM |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
Pfam:RRM_4
|
986 |
1079 |
7.1e-49 |
PFAM |
|
Pfam:U5_2-snRNA_bdg
|
1208 |
1343 |
1.9e-73 |
PFAM |
|
Pfam:U6-snRNA_bdg
|
1442 |
1601 |
3.7e-97 |
PFAM |
|
Pfam:PRP8_domainIV
|
1760 |
1990 |
1.5e-132 |
PFAM |
|
JAB_MPN
|
2099 |
2233 |
9.02e-30 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042808
AA Change: C78F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: C78F
| 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 benign
Transcript: ENSMUST00000102510
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRO8NT
|
58 |
209 |
1.6e-90 |
PFAM |
|
low complexity region
|
369 |
388 |
N/A |
INTRINSIC |
|
Pfam:PROCN
|
395 |
801 |
2.9e-239 |
PFAM |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
Pfam:RRM_4
|
986 |
1077 |
1.5e-51 |
PFAM |
|
Pfam:U5_2-snRNA_bdg
|
1210 |
1343 |
1.1e-77 |
PFAM |
|
Pfam:U6-snRNA_bdg
|
1442 |
1600 |
4.2e-97 |
PFAM |
|
Pfam:PRP8_domainIV
|
1760 |
1989 |
9.8e-134 |
PFAM |
|
JAB_MPN
|
2099 |
2233 |
9.02e-30 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118243
AA Change: C78F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188
AA Change: C78F
| 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 |
0.9724 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (33/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Atp1b2 |
G |
A |
11: 69,496,095 (GRCm39) |
T35I |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,831 (GRCm39) |
V751A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,118,238 (GRCm39) |
L1127I |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,950,797 (GRCm39) |
L292P |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,252,155 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
| Gm8229 |
T |
A |
14: 44,603,984 (GRCm39) |
S58T |
unknown |
Het |
| Gucy2c |
A |
T |
6: 136,747,109 (GRCm39) |
C117S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,265,134 (GRCm39) |
Y291H |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,130,951 (GRCm39) |
S333R |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,646,485 (GRCm39) |
Y479C |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,898,758 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
A |
G |
7: 6,517,993 (GRCm39) |
M145T |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,722,493 (GRCm39) |
R1400S |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
| Polq |
C |
A |
16: 36,862,518 (GRCm39) |
S338Y |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,536,922 (GRCm39) |
S470P |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,802 (GRCm39) |
|
probably benign |
Het |
| Rere |
A |
T |
4: 150,561,819 (GRCm39) |
|
probably null |
Het |
| Rps6kb1 |
A |
G |
11: 86,423,620 (GRCm39) |
F120S |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
| Trpv4 |
A |
G |
5: 114,772,861 (GRCm39) |
S243P |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,379,649 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
G |
T |
18: 13,979,330 (GRCm39) |
S361* |
probably null |
Het |
| Zfyve19 |
A |
G |
2: 119,041,720 (GRCm39) |
T96A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTAAGGATGGCTTTGAAGG -3'
(R):5'- CTGGCTGTAGGTTAAAGCCCAG -3'
Sequencing Primer
(F):5'- GCTTTGAAGGGAGCAGAATCC -3'
(R):5'- GGCCATTCCCAGGATCAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation