Incidental Mutation 'R9288:Osbpl1a'
| ID |
704118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl1a
|
| Ensembl Gene |
ENSMUSG00000044252 |
| Gene Name |
oxysterol binding protein-like 1A |
| Synonyms |
G430090F17Rik, LOC328902 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R9288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12904402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 589
(L589P)
|
| 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 damaging
Transcript: ENSMUST00000074352
AA Change: L589P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: L589P
| 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 damaging
Transcript: ENSMUST00000117361
AA Change: L76P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: L76P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118313
AA Change: L76P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: L76P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119043
AA Change: L76P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: L76P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119512
AA Change: L197P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: L197P
| 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 damaging
Transcript: ENSMUST00000121774
AA Change: L49P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: L49P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
8 |
401 |
4e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121808
AA Change: L76P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: L76P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121888
AA Change: L76P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: L76P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143077
AA Change: L76P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122967
Gene: ENSMUSG00000044252
AA Change: L76P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
184 |
3.5e-69 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155650
AA Change: L172P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120439
Gene: ENSMUSG00000044252
AA Change: L172P
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,704,444 (GRCm39) |
D66G |
probably benign |
Het |
| Acot7 |
T |
A |
4: 152,291,263 (GRCm39) |
H76Q |
probably damaging |
Het |
| Acsf2 |
C |
T |
11: 94,464,044 (GRCm39) |
V47M |
probably benign |
Het |
| Agmat |
T |
C |
4: 141,474,391 (GRCm39) |
S91P |
probably damaging |
Het |
| Apba1 |
A |
G |
19: 23,923,145 (GRCm39) |
*843W |
probably null |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,051,368 (GRCm39) |
I437T |
possibly damaging |
Het |
| Bbs12 |
C |
T |
3: 37,374,712 (GRCm39) |
L387F |
probably damaging |
Het |
| BC028528 |
T |
C |
3: 95,799,227 (GRCm39) |
I6V |
probably benign |
Het |
| C6 |
A |
C |
15: 4,835,532 (GRCm39) |
K770T |
|
Het |
| Cacna1g |
T |
A |
11: 94,308,897 (GRCm39) |
K1669* |
probably null |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,123,512 (GRCm39) |
T1436I |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,286,918 (GRCm39) |
V913E |
unknown |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Eml6 |
T |
G |
11: 29,788,641 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
A |
G |
10: 25,355,653 (GRCm39) |
T486A |
possibly damaging |
Het |
| Fbln5 |
A |
T |
12: 101,734,728 (GRCm39) |
C181* |
probably null |
Het |
| Flnb |
A |
C |
14: 7,904,498 (GRCm38) |
D967A |
probably benign |
Het |
| Glyatl3 |
A |
G |
17: 41,221,016 (GRCm39) |
V117A |
probably benign |
Het |
| Gm4553 |
GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA |
GCAGCCCCCACAGGA |
7: 141,719,025 (GRCm39) |
|
probably benign |
Het |
| Gpa33 |
G |
A |
1: 165,980,304 (GRCm39) |
M122I |
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,221,571 (GRCm39) |
E58G |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,336,773 (GRCm39) |
E1125G |
probably benign |
Het |
| Hook1 |
C |
T |
4: 95,901,505 (GRCm39) |
R488C |
probably damaging |
Het |
| Isx |
G |
T |
8: 75,619,439 (GRCm39) |
A197S |
probably benign |
Het |
| Klhl10 |
G |
T |
11: 100,347,719 (GRCm39) |
A592S |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,497,907 (GRCm39) |
D3949E |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,554,860 (GRCm39) |
I1258K |
probably benign |
Het |
| Lpin3 |
C |
A |
2: 160,745,552 (GRCm39) |
N618K |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,522,858 (GRCm39) |
D701E |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,458 (GRCm39) |
M178K |
possibly damaging |
Het |
| Mex3b |
T |
C |
7: 82,518,159 (GRCm39) |
V158A |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,222,932 (GRCm39) |
F758I |
probably benign |
Het |
| Neb |
T |
G |
2: 52,051,403 (GRCm39) |
N6626H |
probably damaging |
Het |
| Nkd2 |
G |
T |
13: 73,995,177 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
T |
C |
4: 6,414,976 (GRCm39) |
K630R |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,976,049 (GRCm39) |
F2026Y |
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,470,202 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,814,345 (GRCm39) |
K58E |
probably benign |
Het |
| Poll |
T |
C |
19: 45,547,281 (GRCm39) |
I64V |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,252,674 (GRCm39) |
E469G |
possibly damaging |
Het |
| Ptprb |
T |
A |
10: 116,155,353 (GRCm39) |
N415K |
probably benign |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Rft1 |
A |
T |
14: 30,383,415 (GRCm39) |
K152* |
probably null |
Het |
| Rnf180 |
CGAGG |
CGAGGAGG |
13: 105,386,781 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
T |
C |
4: 126,916,627 (GRCm39) |
S275P |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,613,144 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,952,927 (GRCm39) |
F705L |
probably damaging |
Het |
| Spata17 |
A |
G |
1: 186,844,756 (GRCm39) |
V281A |
possibly damaging |
Het |
| Sulf1 |
G |
A |
1: 12,856,827 (GRCm39) |
R26Q |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,692,308 (GRCm39) |
Y1052C |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,149 (GRCm39) |
D251G |
probably benign |
Het |
| Tmem88b |
A |
T |
4: 155,868,733 (GRCm39) |
W172R |
probably damaging |
Het |
| Vdac2 |
C |
A |
14: 21,881,962 (GRCm39) |
P7T |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,323 (GRCm39) |
K334E |
probably damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,185 (GRCm39) |
S221T |
probably benign |
Het |
| Zfp608 |
G |
T |
18: 55,033,341 (GRCm39) |
N397K |
probably benign |
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 |
|
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 |
|
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'- TTACAGTGACCATCCCCAGAG -3'
(R):5'- GGAACACGTTATCTAAAGCAGC -3'
Sequencing Primer
(F):5'- ACCTTGGCAATATAGCTAGGCTC -3'
(R):5'- GCAACAGCAGCAGTTTGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation