Incidental Mutation 'R7154:Osbpl1a'
| ID |
557180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl1a
|
| Ensembl Gene |
ENSMUSG00000044252 |
| Gene Name |
oxysterol binding protein-like 1A |
| Synonyms |
G430090F17Rik, LOC328902 |
| MMRRC Submission |
045256-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R7154 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12901649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 619
(E619G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000117361]
[ENSMUST00000118313]
[ENSMUST00000119043]
[ENSMUST00000119512]
[ENSMUST00000121774]
[ENSMUST00000121808]
[ENSMUST00000121888]
[ENSMUST00000143077]
[ENSMUST00000155650]
|
| AlphaFold |
Q91XL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074352
AA Change: E619G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: E619G
| 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: ENSMUST00000117361
AA Change: E106G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: E106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118313
AA Change: E106G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: E106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119043
AA Change: E106G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: E106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119512
AA Change: E227G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: E227G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
38 |
71 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
156 |
549 |
1.2e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121774
AA Change: E79G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: E79G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
8 |
401 |
4e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121808
AA Change: E106G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: E106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121888
AA Change: E106G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: E106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143077
AA Change: E106G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000122967
Gene: ENSMUSG00000044252
AA Change: E106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
184 |
3.5e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155650
|
| SMART Domains |
Protein: ENSMUSP00000120439
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
46 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
131 |
187 |
1.3e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 8030423J24Rik |
T |
C |
13: 71,032,344 (GRCm39) |
F139L |
unknown |
Het |
| Adgre1 |
G |
A |
17: 57,751,087 (GRCm39) |
|
probably null |
Het |
| Agap2 |
A |
G |
10: 126,927,524 (GRCm39) |
D1135G |
probably benign |
Het |
| Akp3 |
T |
C |
1: 87,052,946 (GRCm39) |
L45P |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,220,905 (GRCm39) |
W71R |
probably damaging |
Het |
| Asic3 |
G |
A |
5: 24,618,660 (GRCm39) |
|
probably benign |
Het |
| Asph |
A |
T |
4: 9,630,930 (GRCm39) |
N139K |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,747,098 (GRCm39) |
C127S |
probably benign |
Het |
| Auts2 |
A |
T |
5: 131,480,731 (GRCm39) |
S255T |
|
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Cacnb1 |
A |
G |
11: 97,895,959 (GRCm39) |
L443P |
probably damaging |
Het |
| Cbfa2t3 |
G |
A |
8: 123,364,883 (GRCm39) |
Q300* |
probably null |
Het |
| Ccer1 |
A |
T |
10: 97,530,201 (GRCm39) |
D288V |
unknown |
Het |
| Col18a1 |
G |
A |
10: 76,908,799 (GRCm39) |
P611S |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,407,694 (GRCm39) |
D281V |
possibly damaging |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,050 (GRCm39) |
Y245C |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,431,963 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,589,966 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
T |
C |
19: 40,713,430 (GRCm39) |
Y188H |
probably damaging |
Het |
| Epb42 |
T |
C |
2: 120,863,843 (GRCm39) |
D111G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,232,484 (GRCm39) |
D2064G |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,908,160 (GRCm39) |
V2614G |
probably damaging |
Het |
| Fos |
A |
T |
12: 85,520,931 (GRCm39) |
M40L |
probably benign |
Het |
| Frmd4b |
T |
A |
6: 97,283,707 (GRCm39) |
E434V |
probably damaging |
Het |
| Galnt6 |
A |
T |
15: 100,591,345 (GRCm39) |
D586E |
probably benign |
Het |
| Gapvd1 |
T |
C |
2: 34,615,075 (GRCm39) |
K474R |
probably damaging |
Het |
| Gimap8 |
T |
A |
6: 48,633,122 (GRCm39) |
F314I |
probably damaging |
Het |
| Gm14393 |
T |
G |
2: 174,903,576 (GRCm39) |
K110N |
probably damaging |
Het |
| Gm4131 |
C |
A |
14: 62,718,382 (GRCm39) |
A75S |
probably damaging |
Het |
| Heatr6 |
G |
A |
11: 83,668,067 (GRCm39) |
V854I |
probably benign |
Het |
| Hic2 |
T |
A |
16: 17,076,806 (GRCm39) |
M545K |
possibly damaging |
Het |
| Ift70b |
C |
T |
2: 75,768,405 (GRCm39) |
R116H |
possibly damaging |
Het |
| Ip6k1 |
A |
G |
9: 107,922,861 (GRCm39) |
Y331C |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,032,527 (GRCm39) |
|
probably null |
Het |
| Kxd1 |
T |
C |
8: 70,968,084 (GRCm39) |
K88E |
probably damaging |
Het |
| Lrrc37a |
A |
C |
11: 103,393,682 (GRCm39) |
V581G |
probably benign |
Het |
| Mex3d |
A |
T |
10: 80,222,584 (GRCm39) |
V224E |
|
Het |
| Mtx2 |
T |
A |
2: 74,706,762 (GRCm39) |
C246S |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,338,468 (GRCm39) |
|
probably null |
Het |
| Myh6 |
A |
G |
14: 55,197,764 (GRCm39) |
I458T |
probably benign |
Het |
| Ndufs6 |
A |
G |
13: 73,468,411 (GRCm39) |
V96A |
possibly damaging |
Het |
| Nemf |
A |
T |
12: 69,363,515 (GRCm39) |
|
probably null |
Het |
| Notch1 |
T |
C |
2: 26,349,950 (GRCm39) |
S2397G |
probably benign |
Het |
| Or4c15b |
A |
G |
2: 89,113,204 (GRCm39) |
I91T |
probably damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,741,997 (GRCm39) |
I289V |
probably benign |
Het |
| Pfkl |
T |
C |
10: 77,837,289 (GRCm39) |
R95G |
probably benign |
Het |
| Plat |
T |
A |
8: 23,268,521 (GRCm39) |
I391K |
possibly damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,862,314 (GRCm39) |
H244R |
probably damaging |
Het |
| Rapgef3 |
G |
C |
15: 97,651,758 (GRCm39) |
H578Q |
probably benign |
Het |
| Rnf145 |
C |
A |
11: 44,415,822 (GRCm39) |
N12K |
probably damaging |
Het |
| Sfxn5 |
C |
T |
6: 85,309,405 (GRCm39) |
C100Y |
unknown |
Het |
| Sh3rf1 |
T |
A |
8: 61,825,748 (GRCm39) |
L581Q |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,195,078 (GRCm39) |
K887E |
probably benign |
Het |
| Spopfm2 |
A |
G |
3: 94,083,526 (GRCm39) |
I95T |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,531,795 (GRCm39) |
T2684N |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,535,023 (GRCm39) |
Q3760P |
probably benign |
Het |
| Stpg2 |
A |
G |
3: 138,921,056 (GRCm39) |
E87G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,106,231 (GRCm39) |
Q792R |
possibly damaging |
Het |
| Taf7 |
T |
C |
18: 37,775,601 (GRCm39) |
D322G |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,331,156 (GRCm39) |
S112G |
possibly damaging |
Het |
| Tbx3 |
A |
G |
5: 119,810,093 (GRCm39) |
M5V |
possibly damaging |
Het |
| Tmem45b |
A |
T |
9: 31,339,328 (GRCm39) |
I215N |
possibly damaging |
Het |
| Tpd52 |
G |
A |
3: 9,028,916 (GRCm39) |
Q43* |
probably null |
Het |
| Trpa1 |
T |
A |
1: 14,952,457 (GRCm39) |
N858I |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 85,972,538 (GRCm39) |
D767G |
probably damaging |
Het |
| Vmn2r3 |
G |
A |
3: 64,194,732 (GRCm39) |
T62I |
probably benign |
Het |
| Wdr59 |
A |
T |
8: 112,185,367 (GRCm39) |
N874K |
|
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 |
|
|
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 |
|
R8029:Osbpl1a
|
UTSW |
18 |
13,047,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TCCTAGAAGGGTGGGAACTG -3'
(R):5'- TCTACAGTAACGTTAGAAAGCCAC -3'
Sequencing Primer
(F):5'- TGGGAACTGAAACACTTGTAATGTG -3'
(R):5'- CATTAAAAATCCAAACTGATCGAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation