Incidental Mutation 'R6508:Scarb1'
| ID |
523983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scarb1
|
| Ensembl Gene |
ENSMUSG00000037936 |
| Gene Name |
scavenger receptor class B, member 1 |
| Synonyms |
Cd36l1, Srb1, Hdlq1, SRBI, D5Ertd460e, Chohd1, SR-BI, Cla-1, Chohd1, Hlb398 |
| MMRRC Submission |
044638-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
125354151-125418158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125381389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 52
(S52T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086075]
[ENSMUST00000111390]
[ENSMUST00000137783]
|
| AlphaFold |
Q61009 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086075
AA Change: S52T
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083242
Gene: ENSMUSG00000037936
AA Change: S52T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
16 |
463 |
6.4e-154 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111390
AA Change: S52T
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936
AA Change: S52T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
14 |
465 |
4.7e-158 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133624
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137783
AA Change: V40D
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148373
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156532
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| 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 plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Targeted mutations result in abnormal lipoprotein metablolism and, for one allele, reversible female infertility. An ENU mutant shows increased cholesterol levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
G |
A |
4: 144,291,590 (GRCm39) |
R39* |
probably null |
Het |
| Brca2 |
A |
T |
5: 150,460,058 (GRCm39) |
E444D |
possibly damaging |
Het |
| Camkk2 |
G |
T |
5: 122,884,382 (GRCm39) |
N346K |
probably damaging |
Het |
| Car4 |
C |
A |
11: 84,856,469 (GRCm39) |
D252E |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,958,895 (GRCm39) |
K649R |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,557,231 (GRCm39) |
Y1966H |
probably damaging |
Het |
| Crppa |
C |
T |
12: 36,476,298 (GRCm39) |
A180V |
possibly damaging |
Het |
| Cts6 |
T |
A |
13: 61,344,221 (GRCm39) |
H277L |
probably damaging |
Het |
| Dcc |
G |
T |
18: 71,439,144 (GRCm39) |
P1246Q |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,188,774 (GRCm39) |
T1739I |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,525 (GRCm39) |
R26H |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,093,516 (GRCm39) |
K1008E |
probably damaging |
Het |
| Htr2b |
T |
C |
1: 86,030,186 (GRCm39) |
T170A |
possibly damaging |
Het |
| Irgm2 |
A |
G |
11: 58,110,327 (GRCm39) |
E18G |
probably benign |
Het |
| Kdm1a |
A |
T |
4: 136,281,621 (GRCm39) |
V630E |
probably damaging |
Het |
| Keap1 |
G |
A |
9: 21,143,010 (GRCm39) |
T501I |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,194,325 (GRCm39) |
H424L |
unknown |
Het |
| Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,363,535 (GRCm39) |
D3364V |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,272,253 (GRCm39) |
G794S |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,433,452 (GRCm39) |
Q34R |
probably benign |
Het |
| Mettl4 |
T |
C |
17: 95,051,373 (GRCm39) |
E148G |
probably damaging |
Het |
| Mgat3 |
T |
C |
15: 80,096,225 (GRCm39) |
S351P |
possibly damaging |
Het |
| Mllt1 |
A |
T |
17: 57,234,054 (GRCm39) |
I44N |
probably damaging |
Het |
| Mlxipl |
G |
T |
5: 135,157,474 (GRCm39) |
A337S |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,572,973 (GRCm39) |
F254L |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,944,973 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
C |
T |
19: 13,726,718 (GRCm39) |
P83S |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,414,390 (GRCm39) |
R912* |
probably null |
Het |
| Pcdh17 |
A |
G |
14: 84,685,419 (GRCm39) |
N629D |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,959,479 (GRCm39) |
I170T |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,956,290 (GRCm39) |
Y746C |
probably damaging |
Het |
| Pramel29 |
A |
T |
4: 143,934,171 (GRCm39) |
L312* |
probably null |
Het |
| Pum2 |
T |
C |
12: 8,798,861 (GRCm39) |
Y991H |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,198,077 (GRCm39) |
V185D |
probably damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,053,887 (GRCm39) |
S18P |
probably benign |
Het |
| Stard13 |
G |
A |
5: 150,986,754 (GRCm39) |
T134I |
probably benign |
Het |
| Tbc1d32 |
C |
T |
10: 56,100,786 (GRCm39) |
C64Y |
probably damaging |
Het |
| Tll1 |
T |
G |
8: 64,551,494 (GRCm39) |
I296L |
probably damaging |
Het |
| Tmem229b |
T |
G |
12: 79,011,680 (GRCm39) |
T84P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,757 (GRCm39) |
T32782A |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,631 (GRCm39) |
V150I |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,290 (GRCm39) |
F705L |
probably benign |
Het |
|
| Other mutations in Scarb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03355:Scarb1
|
APN |
5 |
125,366,766 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03052:Scarb1
|
UTSW |
5 |
125,371,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Scarb1
|
UTSW |
5 |
125,358,164 (GRCm39) |
splice site |
probably null |
|
|
R0317:Scarb1
|
UTSW |
5 |
125,366,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0455:Scarb1
|
UTSW |
5 |
125,366,745 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0491:Scarb1
|
UTSW |
5 |
125,375,795 (GRCm39) |
unclassified |
probably benign |
|
|
R0655:Scarb1
|
UTSW |
5 |
125,377,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0676:Scarb1
|
UTSW |
5 |
125,374,278 (GRCm39) |
unclassified |
probably benign |
|
|
R2074:Scarb1
|
UTSW |
5 |
125,371,207 (GRCm39) |
missense |
probably benign |
|
|
R2267:Scarb1
|
UTSW |
5 |
125,364,439 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3951:Scarb1
|
UTSW |
5 |
125,364,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4080:Scarb1
|
UTSW |
5 |
125,354,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4452:Scarb1
|
UTSW |
5 |
125,377,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4925:Scarb1
|
UTSW |
5 |
125,374,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5669:Scarb1
|
UTSW |
5 |
125,377,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Scarb1
|
UTSW |
5 |
125,381,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5872:Scarb1
|
UTSW |
5 |
125,381,341 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5883:Scarb1
|
UTSW |
5 |
125,417,971 (GRCm39) |
unclassified |
probably benign |
|
|
R6321:Scarb1
|
UTSW |
5 |
125,381,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6618:Scarb1
|
UTSW |
5 |
125,381,394 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6931:Scarb1
|
UTSW |
5 |
125,361,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Scarb1
|
UTSW |
5 |
125,374,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Scarb1
|
UTSW |
5 |
125,381,414 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7146:Scarb1
|
UTSW |
5 |
125,361,089 (GRCm39) |
missense |
probably benign |
|
|
R7830:Scarb1
|
UTSW |
5 |
125,364,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Scarb1
|
UTSW |
5 |
125,371,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Scarb1
|
UTSW |
5 |
125,380,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8467:Scarb1
|
UTSW |
5 |
125,375,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8500:Scarb1
|
UTSW |
5 |
125,371,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8814:Scarb1
|
UTSW |
5 |
125,371,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9025:Scarb1
|
UTSW |
5 |
125,381,414 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9169:Scarb1
|
UTSW |
5 |
125,371,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Scarb1
|
UTSW |
5 |
125,417,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9685:Scarb1
|
UTSW |
5 |
125,371,194 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9699:Scarb1
|
UTSW |
5 |
125,374,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAAACTCAGCATGGCAG -3'
(R):5'- AAGACACGCCTCTTCCTCCG -3'
Sequencing Primer
(F):5'- TCAGCATGGCAGAACACC -3'
(R):5'- GCTAAGCTGCAAATATCTGAGCCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation