Incidental Mutation 'R8029:Osbpl1a'
| ID |
617860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl1a
|
| Ensembl Gene |
ENSMUSG00000044252 |
| Gene Name |
oxysterol binding protein-like 1A |
| Synonyms |
G430090F17Rik, LOC328902 |
| MMRRC Submission |
067468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R8029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 13047578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 125
(E125D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000122175]
[ENSMUST00000147197]
|
| AlphaFold |
Q91XL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074352
AA Change: E125D
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: E125D
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
47 |
76 |
2.05e-6 |
SMART |
|
ANK
|
80 |
109 |
1.29e-3 |
SMART |
|
low complexity region
|
141 |
153 |
N/A |
INTRINSIC |
|
ANK
|
175 |
204 |
1.31e-4 |
SMART |
|
PH
|
236 |
336 |
6.02e-8 |
SMART |
|
low complexity region
|
345 |
354 |
N/A |
INTRINSIC |
|
coiled coil region
|
430 |
463 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
548 |
940 |
6.7e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122175
AA Change: E125D
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113491
Gene: ENSMUSG00000044252
AA Change: E125D
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
47 |
76 |
2.05e-6 |
SMART |
|
ANK
|
80 |
109 |
1.29e-3 |
SMART |
|
low complexity region
|
141 |
153 |
N/A |
INTRINSIC |
|
ANK
|
175 |
204 |
1.31e-4 |
SMART |
|
PH
|
236 |
335 |
3.63e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147197
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
A |
G |
2: 58,186,129 (GRCm39) |
I118T |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,522,934 (GRCm39) |
D36G |
possibly damaging |
Het |
| Aox1 |
G |
A |
1: 58,382,827 (GRCm39) |
V1036I |
probably benign |
Het |
| Arhgef1 |
T |
C |
7: 24,619,163 (GRCm39) |
L468P |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,802,996 (GRCm39) |
L559Q |
probably damaging |
Het |
| Asb3 |
A |
T |
11: 31,051,180 (GRCm39) |
R506* |
probably null |
Het |
| Aspm |
A |
G |
1: 139,399,370 (GRCm39) |
H1045R |
probably benign |
Het |
| Cacna1g |
G |
T |
11: 94,300,564 (GRCm39) |
R2099S |
probably benign |
Het |
| Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
| Cd34 |
A |
C |
1: 194,640,860 (GRCm39) |
M242L |
probably benign |
Het |
| Cdh24 |
T |
A |
14: 54,876,856 (GRCm39) |
N49I |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,561,482 (GRCm39) |
N192S |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,312,519 (GRCm39) |
I331V |
possibly damaging |
Het |
| Disp1 |
A |
G |
1: 182,870,852 (GRCm39) |
S523P |
probably damaging |
Het |
| Dlgap5 |
T |
C |
14: 47,653,897 (GRCm39) |
H44R |
probably benign |
Het |
| Dnajc30 |
G |
T |
5: 135,093,186 (GRCm39) |
A28S |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Exd1 |
A |
T |
2: 119,359,204 (GRCm39) |
H226Q |
probably damaging |
Het |
| Gata6 |
T |
A |
18: 11,054,944 (GRCm39) |
V291E |
possibly damaging |
Het |
| Get3 |
T |
C |
8: 85,746,456 (GRCm39) |
M131V |
probably benign |
Het |
| Gfi1b |
A |
T |
2: 28,503,687 (GRCm39) |
|
probably null |
Het |
| Grk3 |
T |
A |
5: 113,109,508 (GRCm39) |
I150L |
probably benign |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,817,278 (GRCm39) |
F17S |
probably benign |
Het |
| Ighg1 |
T |
C |
12: 113,292,765 (GRCm39) |
K268R |
|
Het |
| Lama1 |
G |
T |
17: 68,124,589 (GRCm39) |
R2883M |
|
Het |
| Lpar3 |
T |
C |
3: 145,946,718 (GRCm39) |
M132T |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,338,685 (GRCm39) |
T4351A |
possibly damaging |
Het |
| Marchf6 |
A |
G |
15: 31,496,148 (GRCm39) |
|
probably null |
Het |
| Mbtps1 |
C |
A |
8: 120,274,544 (GRCm39) |
|
probably benign |
Het |
| Mctp1 |
T |
C |
13: 77,178,005 (GRCm39) |
Y931H |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,504 (GRCm39) |
|
probably null |
Het |
| Myh1 |
G |
T |
11: 67,102,066 (GRCm39) |
|
probably null |
Het |
| Mylk2 |
T |
C |
2: 152,762,219 (GRCm39) |
S497P |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,214,255 (GRCm39) |
D470G |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,121,383 (GRCm39) |
P722S |
possibly damaging |
Het |
| Nphp1 |
T |
C |
2: 127,583,036 (GRCm39) |
T626A |
probably benign |
Het |
| Nudt9 |
C |
T |
5: 104,198,477 (GRCm39) |
|
probably benign |
Het |
| Oplah |
T |
C |
15: 76,189,896 (GRCm39) |
Y143C |
probably benign |
Het |
| Or10a3m |
T |
A |
7: 108,313,037 (GRCm39) |
F159Y |
possibly damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,376 (GRCm39) |
T71A |
probably benign |
Het |
| Or7e178 |
A |
G |
9: 20,225,643 (GRCm39) |
F191S |
possibly damaging |
Het |
| Or7g20 |
T |
C |
9: 18,947,090 (GRCm39) |
S224P |
probably damaging |
Het |
| P2ry1 |
C |
A |
3: 60,910,943 (GRCm39) |
N27K |
possibly damaging |
Het |
| Palld |
A |
T |
8: 62,330,346 (GRCm39) |
I177N |
probably damaging |
Het |
| Plcl1 |
A |
T |
1: 55,735,237 (GRCm39) |
I193L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,889,940 (GRCm39) |
L53* |
probably null |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,518 (GRCm39) |
E531G |
possibly damaging |
Het |
| Prex1 |
C |
A |
2: 166,417,523 (GRCm39) |
Q1361H |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,006,197 (GRCm39) |
E795G |
probably damaging |
Het |
| Rars1 |
C |
T |
11: 35,711,992 (GRCm39) |
V295I |
probably damaging |
Het |
| Rnaseh2b |
T |
C |
14: 62,590,997 (GRCm39) |
V116A |
possibly damaging |
Het |
| Rnf43 |
T |
A |
11: 87,622,720 (GRCm39) |
L480H |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,108,598 (GRCm39) |
T1601A |
not run |
Het |
| Setd1a |
C |
G |
7: 127,385,386 (GRCm39) |
Q698E |
probably benign |
Het |
| Sh3gl3 |
T |
C |
7: 81,920,091 (GRCm39) |
Y100H |
probably benign |
Het |
| Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
| Snx13 |
A |
C |
12: 35,169,885 (GRCm39) |
H610P |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,191 (GRCm39) |
H543R |
possibly damaging |
Het |
| Spdl1 |
T |
C |
11: 34,713,419 (GRCm39) |
R217G |
probably benign |
Het |
| Spop |
G |
A |
11: 95,365,193 (GRCm39) |
E113K |
probably benign |
Het |
| Sult2a3 |
G |
A |
7: 13,855,553 (GRCm39) |
P101L |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,254,600 (GRCm39) |
H348Y |
probably damaging |
Het |
| Tmie |
T |
C |
9: 110,696,555 (GRCm39) |
T109A |
possibly damaging |
Het |
| Ttc12 |
A |
G |
9: 49,381,551 (GRCm39) |
V140A |
possibly damaging |
Het |
| Ube2m |
A |
G |
7: 12,770,524 (GRCm39) |
L58P |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,576,040 (GRCm39) |
S839P |
possibly damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,696,744 (GRCm39) |
D221V |
probably benign |
Het |
| Vps41 |
C |
T |
13: 19,007,955 (GRCm39) |
Q263* |
probably null |
Het |
| Zfand3 |
A |
T |
17: 30,354,407 (GRCm39) |
T75S |
probably benign |
Het |
| Zscan26 |
A |
G |
13: 21,629,520 (GRCm39) |
C202R |
probably damaging |
Het |
|
| Other mutations in Osbpl1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Osbpl1a
|
APN |
18 |
12,890,683 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01062:Osbpl1a
|
APN |
18 |
13,038,132 (GRCm39) |
missense |
probably benign |
|
|
IGL01450:Osbpl1a
|
APN |
18 |
13,004,152 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01531:Osbpl1a
|
APN |
18 |
13,066,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Osbpl1a
|
APN |
18 |
12,896,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01606:Osbpl1a
|
APN |
18 |
12,889,271 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01672:Osbpl1a
|
APN |
18 |
12,899,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02372:Osbpl1a
|
APN |
18 |
12,974,370 (GRCm39) |
nonsense |
probably null |
|
|
IGL02451:Osbpl1a
|
APN |
18 |
13,047,550 (GRCm39) |
splice site |
probably benign |
|
|
IGL02490:Osbpl1a
|
APN |
18 |
13,015,341 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02884:Osbpl1a
|
APN |
18 |
12,952,635 (GRCm39) |
nonsense |
probably null |
|
|
R0084:Osbpl1a
|
UTSW |
18 |
12,890,669 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0266:Osbpl1a
|
UTSW |
18 |
13,004,220 (GRCm39) |
splice site |
probably null |
|
|
R0565:Osbpl1a
|
UTSW |
18 |
12,892,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:Osbpl1a
|
UTSW |
18 |
13,015,336 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0899:Osbpl1a
|
UTSW |
18 |
12,890,747 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1330:Osbpl1a
|
UTSW |
18 |
13,015,251 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1464:Osbpl1a
|
UTSW |
18 |
13,047,615 (GRCm39) |
missense |
probably benign |
|
|
R1464:Osbpl1a
|
UTSW |
18 |
13,047,615 (GRCm39) |
missense |
probably benign |
|
|
R1475:Osbpl1a
|
UTSW |
18 |
12,890,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1495:Osbpl1a
|
UTSW |
18 |
12,891,896 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1734:Osbpl1a
|
UTSW |
18 |
12,921,373 (GRCm39) |
splice site |
probably null |
|
|
R1930:Osbpl1a
|
UTSW |
18 |
13,038,251 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1931:Osbpl1a
|
UTSW |
18 |
13,038,251 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2109:Osbpl1a
|
UTSW |
18 |
12,892,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Osbpl1a
|
UTSW |
18 |
13,004,230 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2504:Osbpl1a
|
UTSW |
18 |
13,038,088 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2762:Osbpl1a
|
UTSW |
18 |
12,899,956 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2907:Osbpl1a
|
UTSW |
18 |
13,004,129 (GRCm39) |
unclassified |
probably benign |
|
|
R4306:Osbpl1a
|
UTSW |
18 |
12,952,652 (GRCm39) |
missense |
probably benign |
|
|
R4835:Osbpl1a
|
UTSW |
18 |
12,901,593 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5097:Osbpl1a
|
UTSW |
18 |
12,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Osbpl1a
|
UTSW |
18 |
12,895,697 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5224:Osbpl1a
|
UTSW |
18 |
13,066,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5245:Osbpl1a
|
UTSW |
18 |
12,891,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Osbpl1a
|
UTSW |
18 |
13,025,319 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5579:Osbpl1a
|
UTSW |
18 |
12,974,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5833:Osbpl1a
|
UTSW |
18 |
12,921,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Osbpl1a
|
UTSW |
18 |
13,038,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Osbpl1a
|
UTSW |
18 |
12,952,560 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6296:Osbpl1a
|
UTSW |
18 |
12,952,560 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6477:Osbpl1a
|
UTSW |
18 |
12,889,318 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6997:Osbpl1a
|
UTSW |
18 |
12,889,281 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7105:Osbpl1a
|
UTSW |
18 |
12,900,020 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7107:Osbpl1a
|
UTSW |
18 |
12,974,310 (GRCm39) |
nonsense |
probably null |
|
|
R7154:Osbpl1a
|
UTSW |
18 |
12,901,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7459:Osbpl1a
|
UTSW |
18 |
13,066,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7757:Osbpl1a
|
UTSW |
18 |
13,066,657 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7797:Osbpl1a
|
UTSW |
18 |
13,015,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8084:Osbpl1a
|
UTSW |
18 |
13,038,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Osbpl1a
|
UTSW |
18 |
12,901,643 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8947:Osbpl1a
|
UTSW |
18 |
12,899,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9069:Osbpl1a
|
UTSW |
18 |
13,002,074 (GRCm39) |
intron |
probably benign |
|
|
R9085:Osbpl1a
|
UTSW |
18 |
13,062,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Osbpl1a
|
UTSW |
18 |
12,904,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9443:Osbpl1a
|
UTSW |
18 |
13,031,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9517:Osbpl1a
|
UTSW |
18 |
13,042,965 (GRCm39) |
missense |
probably benign |
|
|
R9600:Osbpl1a
|
UTSW |
18 |
13,015,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9658:Osbpl1a
|
UTSW |
18 |
12,889,269 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9694:Osbpl1a
|
UTSW |
18 |
12,952,565 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0027:Osbpl1a
|
UTSW |
18 |
12,892,560 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1177:Osbpl1a
|
UTSW |
18 |
13,039,980 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTTATCTTGATATGCACTGAAAACA -3'
(R):5'- AGCAATCACTAATTTGCAAAAGGA -3'
Sequencing Primer
(F):5'- GGATGTGAAATCTTCCCCCAG -3'
(R):5'- AATCACTAATTTGCAAAAGGATTGTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation