Incidental Mutation 'R4778:Osbpl10'
| ID |
368097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl10
|
| Ensembl Gene |
ENSMUSG00000040875 |
| Gene Name |
oxysterol binding protein-like 10 |
| Synonyms |
OPR-10, C820004B04Rik, 4933433D06Rik |
| MMRRC Submission |
042414-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4778 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
114807637-115061293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114938598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 86
(S86L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046627]
[ENSMUST00000182199]
[ENSMUST00000182384]
[ENSMUST00000183104]
[ENSMUST00000183141]
|
| AlphaFold |
S4R1M9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046627
AA Change: S50L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: S50L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
116 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
229 |
535 |
7.8e-70 |
PFAM |
|
Pfam:Oxysterol_BP
|
532 |
589 |
1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182199
|
| SMART Domains |
Protein: ENSMUSP00000138206
Gene: ENSMUSG00000040875
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
36 |
8e-19 |
BLAST |
|
PDB:2D9X|A
|
1 |
42 |
2e-8 |
PDB |
|
SCOP:d1ki1b2
|
10 |
42 |
7e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182363
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182384
AA Change: S86L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: S86L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
36 |
8e-16 |
BLAST |
|
PDB:2D9X|A
|
2 |
46 |
6e-7 |
PDB |
|
SCOP:d1ki1b2
|
10 |
42 |
9e-3 |
SMART |
|
low complexity region
|
131 |
152 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
262 |
626 |
1.5e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183104
AA Change: S225L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: S225L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
75 |
N/A |
INTRINSIC |
|
PH
|
77 |
175 |
2.72e-15 |
SMART |
|
low complexity region
|
270 |
291 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
401 |
765 |
1.4e-72 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183141
AA Change: S86L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138760
Gene: ENSMUSG00000040875
AA Change: S86L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
36 |
3e-18 |
BLAST |
|
PDB:2D9X|A
|
2 |
46 |
6e-8 |
PDB |
|
SCOP:d1ki1b2
|
10 |
42 |
9e-4 |
SMART |
|
low complexity region
|
131 |
152 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1148 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,615,342 (GRCm39) |
N1349S |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,989,339 (GRCm39) |
V3541A |
possibly damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,231,518 (GRCm39) |
T156S |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,991,214 (GRCm39) |
M897K |
possibly damaging |
Het |
| Card11 |
G |
T |
5: 140,869,537 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
A |
8: 107,270,458 (GRCm39) |
I445N |
probably damaging |
Het |
| Csrp3 |
T |
G |
7: 48,482,311 (GRCm39) |
K169N |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Czib |
T |
C |
4: 107,749,195 (GRCm39) |
V64A |
probably damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
| Erc1 |
A |
T |
6: 119,774,298 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,491,363 (GRCm39) |
V3808A |
probably benign |
Het |
| Fbxw19 |
T |
C |
9: 109,323,714 (GRCm39) |
D87G |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 98,900,560 (GRCm39) |
I99V |
probably benign |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Hand1 |
T |
C |
11: 57,722,449 (GRCm39) |
D55G |
possibly damaging |
Het |
| Lrguk |
T |
A |
6: 34,033,015 (GRCm39) |
I227K |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,683,583 (GRCm39) |
R726* |
probably null |
Het |
| Minar1 |
T |
A |
9: 89,485,155 (GRCm39) |
I81F |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,619,694 (GRCm39) |
V1415E |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,938,011 (GRCm39) |
D901G |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,156 (GRCm39) |
Y670H |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,638,924 (GRCm39) |
Y171* |
probably null |
Het |
| Notch4 |
C |
T |
17: 34,801,485 (GRCm39) |
A1111V |
possibly damaging |
Het |
| Nphp4 |
T |
A |
4: 152,640,748 (GRCm39) |
D1038E |
probably benign |
Het |
| Or2ag1b |
A |
C |
7: 106,288,874 (GRCm39) |
S21R |
probably damaging |
Het |
| Or5p60 |
A |
T |
7: 107,723,687 (GRCm39) |
I261N |
possibly damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,608,893 (GRCm39) |
G252R |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,478,698 (GRCm39) |
H15Q |
probably benign |
Het |
| Pstpip1 |
A |
G |
9: 56,035,904 (GRCm39) |
D383G |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,426,883 (GRCm39) |
T1551A |
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,131,780 (GRCm39) |
F626L |
probably damaging |
Het |
| Retreg1 |
C |
A |
15: 25,971,871 (GRCm39) |
N394K |
possibly damaging |
Het |
| Rpl7-ps8 |
T |
A |
15: 59,083,252 (GRCm39) |
|
noncoding transcript |
Het |
| Rpp14 |
T |
A |
14: 8,090,203 (GRCm38) |
D42E |
probably benign |
Het |
| Rrp8 |
T |
A |
7: 105,386,481 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 66,008,698 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
A |
T |
2: 166,805,442 (GRCm39) |
N51K |
probably benign |
Het |
| Tdrd5 |
T |
A |
1: 156,083,157 (GRCm39) |
D960V |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,436,468 (GRCm39) |
D750G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,459,237 (GRCm39) |
V236A |
probably damaging |
Het |
| Tmem89 |
T |
C |
9: 108,744,443 (GRCm39) |
V112A |
probably damaging |
Het |
| Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
| Vmn1r41 |
A |
C |
6: 89,724,257 (GRCm39) |
K266T |
probably damaging |
Het |
| Vmn2r65 |
T |
C |
7: 84,592,801 (GRCm39) |
K469E |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,488,600 (GRCm39) |
T1092A |
possibly damaging |
Het |
| Zfp981 |
T |
A |
4: 146,622,112 (GRCm39) |
S346T |
probably benign |
Het |
|
| Other mutations in Osbpl10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Osbpl10
|
APN |
9 |
115,005,070 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01318:Osbpl10
|
APN |
9 |
115,061,190 (GRCm39) |
nonsense |
probably null |
|
|
IGL02023:Osbpl10
|
APN |
9 |
115,055,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Osbpl10
|
APN |
9 |
115,046,062 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Weeblo
|
UTSW |
9 |
115,036,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0534:Osbpl10
|
UTSW |
9 |
114,996,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0948:Osbpl10
|
UTSW |
9 |
114,996,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Osbpl10
|
UTSW |
9 |
115,036,621 (GRCm39) |
nonsense |
probably null |
|
|
R2138:Osbpl10
|
UTSW |
9 |
115,061,202 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3709:Osbpl10
|
UTSW |
9 |
115,036,655 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3710:Osbpl10
|
UTSW |
9 |
115,036,655 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4406:Osbpl10
|
UTSW |
9 |
114,938,549 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4738:Osbpl10
|
UTSW |
9 |
115,045,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Osbpl10
|
UTSW |
9 |
114,938,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Osbpl10
|
UTSW |
9 |
114,890,944 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5874:Osbpl10
|
UTSW |
9 |
115,055,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Osbpl10
|
UTSW |
9 |
114,896,383 (GRCm39) |
splice site |
probably null |
|
|
R6103:Osbpl10
|
UTSW |
9 |
114,890,940 (GRCm39) |
nonsense |
probably null |
|
|
R6174:Osbpl10
|
UTSW |
9 |
114,938,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6246:Osbpl10
|
UTSW |
9 |
115,055,842 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7008:Osbpl10
|
UTSW |
9 |
114,890,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Osbpl10
|
UTSW |
9 |
115,052,766 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7182:Osbpl10
|
UTSW |
9 |
114,896,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7285:Osbpl10
|
UTSW |
9 |
115,052,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Osbpl10
|
UTSW |
9 |
115,036,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Osbpl10
|
UTSW |
9 |
114,890,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7853:Osbpl10
|
UTSW |
9 |
115,036,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Osbpl10
|
UTSW |
9 |
114,891,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8100:Osbpl10
|
UTSW |
9 |
114,996,322 (GRCm39) |
missense |
probably benign |
|
|
R8376:Osbpl10
|
UTSW |
9 |
115,052,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Osbpl10
|
UTSW |
9 |
115,005,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8537:Osbpl10
|
UTSW |
9 |
115,058,977 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8706:Osbpl10
|
UTSW |
9 |
115,036,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9021:Osbpl10
|
UTSW |
9 |
114,807,939 (GRCm39) |
missense |
unknown |
|
|
R9022:Osbpl10
|
UTSW |
9 |
114,807,939 (GRCm39) |
missense |
unknown |
|
|
R9071:Osbpl10
|
UTSW |
9 |
114,890,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9192:Osbpl10
|
UTSW |
9 |
114,996,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Osbpl10
|
UTSW |
9 |
115,061,211 (GRCm39) |
nonsense |
probably null |
|
|
R9729:Osbpl10
|
UTSW |
9 |
115,052,804 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9771:Osbpl10
|
UTSW |
9 |
114,896,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTTCTGCTGGCCAGTTG -3'
(R):5'- AATTATCTTCTCGTGCTGGAAGAAC -3'
Sequencing Primer
(F):5'- CCAGTTGCTGAGTTTTGACGCC -3'
(R):5'- AGGCTGGGAGAGTACATCTATTC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation