Incidental Mutation 'R6296:Osbpl1a'
ID |
508811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl1a
|
Ensembl Gene |
ENSMUSG00000044252 |
Gene Name |
oxysterol binding protein-like 1A |
Synonyms |
G430090F17Rik, LOC328902 |
MMRRC Submission |
044407-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R6296 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 12952560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000117361]
[ENSMUST00000118313]
[ENSMUST00000119043]
[ENSMUST00000119512]
[ENSMUST00000121774]
[ENSMUST00000121808]
[ENSMUST00000121888]
[ENSMUST00000143077]
[ENSMUST00000155650]
[ENSMUST00000124570]
|
AlphaFold |
Q91XL9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000074352
|
SMART Domains |
Protein: ENSMUSP00000073957 Gene: ENSMUSG00000044252
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 null
Transcript: ENSMUST00000117361
|
SMART Domains |
Protein: ENSMUSP00000112681 Gene: ENSMUSG00000044252
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000118313
|
SMART Domains |
Protein: ENSMUSP00000113735 Gene: ENSMUSG00000044252
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119043
|
SMART Domains |
Protein: ENSMUSP00000113357 Gene: ENSMUSG00000044252
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119512
|
SMART Domains |
Protein: ENSMUSP00000113914 Gene: ENSMUSG00000044252
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
|
SMART Domains |
Protein: ENSMUSP00000113268 Gene: ENSMUSG00000044252
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
8 |
401 |
4e-150 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121808
|
SMART Domains |
Protein: ENSMUSP00000113841 Gene: ENSMUSG00000044252
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121888
|
SMART Domains |
Protein: ENSMUSP00000112895 Gene: ENSMUSG00000044252
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000143077
|
SMART Domains |
Protein: ENSMUSP00000122967 Gene: ENSMUSG00000044252
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
184 |
3.5e-69 |
PFAM |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154614
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124570
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
C |
11: 72,086,580 (GRCm39) |
K277R |
probably damaging |
Het |
Aatf |
T |
C |
11: 84,363,926 (GRCm39) |
Y267C |
probably benign |
Het |
Adcy5 |
A |
G |
16: 35,124,080 (GRCm39) |
Y1253C |
probably damaging |
Het |
Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
Adm |
A |
G |
7: 110,227,561 (GRCm39) |
T26A |
probably benign |
Het |
Ahnak |
T |
G |
19: 8,980,669 (GRCm39) |
V651G |
probably damaging |
Het |
Akr7a5 |
G |
A |
4: 139,045,532 (GRCm39) |
V358I |
probably benign |
Het |
Ankar |
T |
G |
1: 72,682,417 (GRCm39) |
T1383P |
probably damaging |
Het |
Bpifb6 |
G |
C |
2: 153,748,812 (GRCm39) |
K269N |
possibly damaging |
Het |
Cacna1c |
T |
C |
6: 118,575,684 (GRCm39) |
E1927G |
possibly damaging |
Het |
Cacna1c |
T |
A |
6: 118,629,675 (GRCm39) |
T1249S |
probably benign |
Het |
Cacna1h |
G |
A |
17: 25,602,053 (GRCm39) |
R1596C |
probably damaging |
Het |
Cbll1 |
A |
G |
12: 31,537,507 (GRCm39) |
V415A |
probably benign |
Het |
Cd300lf |
C |
T |
11: 115,015,195 (GRCm39) |
V132I |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,902,708 (GRCm39) |
Y148C |
probably damaging |
Het |
Coa5 |
A |
G |
1: 37,467,428 (GRCm39) |
S60P |
probably damaging |
Het |
Col6a2 |
T |
C |
10: 76,446,883 (GRCm39) |
N342D |
probably damaging |
Het |
Cyp2c29 |
T |
G |
19: 39,318,705 (GRCm39) |
I434S |
possibly damaging |
Het |
Ddx11 |
G |
A |
17: 66,457,724 (GRCm39) |
|
probably null |
Het |
Dgke |
C |
T |
11: 88,931,575 (GRCm39) |
V560I |
probably benign |
Het |
Dusp16 |
C |
A |
6: 134,697,456 (GRCm39) |
|
probably null |
Het |
Enpp4 |
G |
T |
17: 44,413,371 (GRCm39) |
N54K |
probably benign |
Het |
Epn1 |
G |
A |
7: 5,093,122 (GRCm39) |
A145T |
probably damaging |
Het |
Erc2 |
A |
T |
14: 27,802,112 (GRCm39) |
K764M |
probably damaging |
Het |
Ercc6 |
G |
T |
14: 32,248,360 (GRCm39) |
E304* |
probably null |
Het |
Fam117a |
T |
A |
11: 95,254,971 (GRCm39) |
C115S |
possibly damaging |
Het |
Galntl5 |
T |
C |
5: 25,391,163 (GRCm39) |
S21P |
probably benign |
Het |
Gm6358 |
T |
C |
16: 88,937,970 (GRCm39) |
S70P |
unknown |
Het |
Grip1 |
C |
T |
10: 119,911,369 (GRCm39) |
Q696* |
probably null |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Hsfy2 |
T |
A |
1: 56,676,351 (GRCm39) |
H62L |
probably benign |
Het |
Ighm |
T |
C |
12: 113,385,187 (GRCm39) |
I258V |
unknown |
Het |
Igkv13-71-1 |
G |
T |
6: 69,212,783 (GRCm39) |
|
noncoding transcript |
Het |
Inava |
C |
T |
1: 136,148,809 (GRCm39) |
|
probably null |
Het |
Irx1 |
A |
C |
13: 72,107,787 (GRCm39) |
S298R |
probably damaging |
Het |
Jarid2 |
T |
A |
13: 45,056,539 (GRCm39) |
Y443N |
possibly damaging |
Het |
Kcnc1 |
G |
A |
7: 46,084,740 (GRCm39) |
A555T |
probably benign |
Het |
Krtap4-6 |
T |
A |
11: 99,556,245 (GRCm39) |
R161* |
probably null |
Het |
Lipo3 |
T |
C |
19: 33,757,737 (GRCm39) |
D244G |
probably benign |
Het |
Lmo2 |
T |
G |
2: 103,800,946 (GRCm39) |
V39G |
possibly damaging |
Het |
Lrch2 |
C |
T |
X: 146,263,553 (GRCm39) |
A369T |
probably damaging |
Homo |
Macf1 |
A |
T |
4: 123,326,668 (GRCm39) |
I4943N |
probably damaging |
Het |
Mkx |
A |
T |
18: 7,000,591 (GRCm39) |
|
probably null |
Het |
Nek1 |
C |
T |
8: 61,525,343 (GRCm39) |
Q594* |
probably null |
Het |
Nipbl |
T |
C |
15: 8,330,379 (GRCm39) |
M2349V |
possibly damaging |
Het |
Nup155 |
T |
A |
15: 8,182,639 (GRCm39) |
C1201S |
probably damaging |
Het |
Or2y8 |
C |
A |
11: 52,035,423 (GRCm39) |
R311S |
probably benign |
Het |
Or4a76 |
G |
A |
2: 89,460,975 (GRCm39) |
T89I |
probably damaging |
Het |
Or5ac25 |
T |
C |
16: 59,181,769 (GRCm39) |
K271E |
probably benign |
Het |
Pbx1 |
T |
C |
1: 168,011,184 (GRCm39) |
D372G |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,302,112 (GRCm39) |
S1668T |
probably damaging |
Het |
Pitpnc1 |
T |
C |
11: 107,117,092 (GRCm39) |
H193R |
probably damaging |
Het |
Plag1 |
G |
T |
4: 3,904,499 (GRCm39) |
H231N |
probably damaging |
Het |
Prmt8 |
A |
G |
6: 127,688,767 (GRCm39) |
I201T |
probably damaging |
Het |
Ptpn23 |
A |
T |
9: 110,222,894 (GRCm39) |
N54K |
probably damaging |
Het |
Rab11fip4 |
T |
C |
11: 79,581,655 (GRCm39) |
|
probably null |
Het |
Rassf9 |
T |
A |
10: 102,381,614 (GRCm39) |
I332N |
probably damaging |
Het |
Rgs9 |
T |
C |
11: 109,159,813 (GRCm39) |
N173S |
probably benign |
Het |
Rhbdl1 |
A |
G |
17: 26,053,943 (GRCm39) |
L309P |
probably damaging |
Het |
Rnf214 |
A |
G |
9: 45,779,119 (GRCm39) |
S389P |
probably benign |
Het |
Rxfp1 |
A |
C |
3: 79,575,155 (GRCm39) |
L181R |
probably damaging |
Het |
Sfxn1 |
C |
T |
13: 54,247,899 (GRCm39) |
T208I |
probably benign |
Het |
Sgo2b |
C |
T |
8: 64,380,827 (GRCm39) |
M668I |
probably benign |
Het |
Sh3bp4 |
C |
A |
1: 89,073,211 (GRCm39) |
S686R |
probably damaging |
Het |
Spata31d1d |
G |
A |
13: 59,876,278 (GRCm39) |
T419I |
possibly damaging |
Het |
Spata31d1e |
T |
C |
13: 59,890,497 (GRCm39) |
D441G |
probably benign |
Het |
Spink5 |
T |
C |
18: 44,147,824 (GRCm39) |
S857P |
probably damaging |
Het |
Stard13 |
A |
T |
5: 150,986,138 (GRCm39) |
S339R |
probably damaging |
Het |
Stk35 |
T |
A |
2: 129,652,808 (GRCm39) |
Y436* |
probably null |
Het |
Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
Tinag |
T |
A |
9: 76,904,217 (GRCm39) |
E402V |
possibly damaging |
Het |
Tmem183a |
T |
C |
1: 134,289,349 (GRCm39) |
D27G |
probably damaging |
Het |
Tnfrsf13c |
T |
C |
15: 82,108,103 (GRCm39) |
T56A |
probably damaging |
Het |
Tnrc18 |
A |
C |
5: 142,719,331 (GRCm39) |
L1985R |
unknown |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Ufl1 |
G |
T |
4: 25,270,572 (GRCm39) |
Q215K |
probably benign |
Het |
Unkl |
T |
C |
17: 25,450,839 (GRCm39) |
*232R |
probably null |
Het |
Wnk4 |
A |
T |
11: 101,164,824 (GRCm39) |
N718Y |
probably damaging |
Het |
Xkr4 |
T |
C |
1: 3,286,793 (GRCm39) |
T466A |
probably benign |
Het |
Zfp451 |
T |
A |
1: 33,808,898 (GRCm39) |
K988* |
probably null |
Het |
Zfp503 |
G |
C |
14: 22,035,868 (GRCm39) |
Y349* |
probably null |
Het |
Zfp990 |
T |
A |
4: 145,264,673 (GRCm39) |
F557Y |
possibly 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 |
|
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 |
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'- AGACACTTCCTGAAAGCCTG -3'
(R):5'- ACATTCATCATGAGCCCGCTC -3'
Sequencing Primer
(F):5'- CCTGGGGGCTAAAACCAAGC -3'
(R):5'- TCTGCCACAGGTTCCGAGTC -3'
|
Posted On |
2018-04-02 |