Incidental Mutation 'R0266:Osbpl1a'
| ID |
34964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl1a
|
| Ensembl Gene |
ENSMUSG00000044252 |
| Gene Name |
oxysterol binding protein-like 1A |
| Synonyms |
G430090F17Rik, LOC328902 |
| MMRRC Submission |
038492-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R0266 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 13004220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000119512]
[ENSMUST00000155650]
|
| AlphaFold |
Q91XL9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074352
AA Change: Q399L
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: Q399L
| 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: ENSMUST00000119512
AA Change: Q7L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: Q7L
| 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 |
noncoding transcript
Transcript: ENSMUST00000132594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154614
|
| 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 |
|
| Meta Mutation Damage Score |
0.1425 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.8%
|
| Validation Efficiency |
100% (79/79) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
A |
G |
12: 110,635,188 (GRCm39) |
S117P |
possibly damaging |
Het |
| Aars2 |
T |
C |
17: 45,818,436 (GRCm39) |
|
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,607,185 (GRCm39) |
D466G |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,216,658 (GRCm39) |
A342T |
probably benign |
Het |
| Apbb2 |
A |
T |
5: 66,459,954 (GRCm39) |
N714K |
probably benign |
Het |
| Aqp12 |
C |
A |
1: 92,934,572 (GRCm39) |
H150N |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,558,418 (GRCm39) |
L114* |
probably null |
Het |
| Ccng2 |
T |
C |
5: 93,419,148 (GRCm39) |
|
probably benign |
Het |
| Cd36 |
T |
A |
5: 18,003,250 (GRCm39) |
R265S |
probably benign |
Het |
| Ces4a |
T |
C |
8: 105,868,598 (GRCm39) |
L104S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,628,547 (GRCm39) |
I387V |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,965,521 (GRCm39) |
H566Q |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,486,527 (GRCm39) |
H1646L |
possibly damaging |
Het |
| Dntt |
T |
C |
19: 41,047,566 (GRCm39) |
I503T |
probably damaging |
Het |
| Dynlt1a |
T |
G |
17: 6,367,670 (GRCm39) |
E2D |
probably benign |
Het |
| Efemp2 |
G |
T |
19: 5,528,027 (GRCm39) |
C78F |
probably damaging |
Het |
| Esco1 |
T |
C |
18: 10,594,605 (GRCm39) |
E227G |
probably benign |
Het |
| Fezf2 |
T |
A |
14: 12,342,607 (GRCm38) |
K419N |
probably damaging |
Het |
| Gm17541 |
A |
T |
12: 4,739,487 (GRCm39) |
|
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,469,372 (GRCm39) |
Q251* |
probably null |
Het |
| Gm4782 |
T |
G |
6: 50,587,674 (GRCm39) |
S686R |
probably damaging |
Het |
| Grin3a |
G |
A |
4: 49,665,501 (GRCm39) |
R1045* |
probably null |
Het |
| Grm8 |
T |
C |
6: 27,285,895 (GRCm39) |
Y839C |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,856,326 (GRCm39) |
H3921Q |
probably damaging |
Het |
| Hes6 |
A |
T |
1: 91,340,026 (GRCm39) |
D143E |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,284,839 (GRCm39) |
E2055G |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,335,365 (GRCm39) |
|
probably benign |
Het |
| Ikzf3 |
A |
G |
11: 98,358,143 (GRCm39) |
L398P |
probably benign |
Het |
| Il10ra |
A |
T |
9: 45,176,950 (GRCm39) |
I125N |
probably benign |
Het |
| Kcnb2 |
G |
A |
1: 15,783,137 (GRCm39) |
|
probably benign |
Het |
| Krt77 |
T |
C |
15: 101,777,813 (GRCm39) |
R81G |
possibly damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,747,298 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
C |
T |
3: 100,489,350 (GRCm39) |
R543Q |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,670 (GRCm39) |
D169G |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,741,835 (GRCm39) |
S3869T |
probably damaging |
Het |
| Mettl14 |
A |
T |
3: 123,176,475 (GRCm39) |
S58T |
probably benign |
Het |
| Mrpl4 |
T |
C |
9: 20,914,610 (GRCm39) |
V62A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,984,498 (GRCm39) |
D1085G |
possibly damaging |
Het |
| Myo5c |
C |
A |
9: 75,191,498 (GRCm39) |
|
probably benign |
Het |
| Naalad2 |
G |
T |
9: 18,262,239 (GRCm39) |
|
probably benign |
Het |
| Nat3 |
A |
G |
8: 68,000,432 (GRCm39) |
T104A |
probably benign |
Het |
| Nek4 |
A |
G |
14: 30,679,253 (GRCm39) |
E198G |
probably damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,619 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or5w11 |
C |
A |
2: 87,459,626 (GRCm39) |
T273K |
possibly damaging |
Het |
| Or7e177 |
A |
T |
9: 20,212,454 (GRCm39) |
R320S |
probably benign |
Het |
| Pax7 |
G |
A |
4: 139,507,047 (GRCm39) |
S330L |
possibly damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,329 (GRCm39) |
D520E |
probably damaging |
Het |
| Pgm3 |
T |
C |
9: 86,449,586 (GRCm39) |
T145A |
probably benign |
Het |
| Phox2b |
G |
A |
5: 67,253,968 (GRCm39) |
|
probably null |
Het |
| Pik3r6 |
A |
T |
11: 68,417,234 (GRCm39) |
R59* |
probably null |
Het |
| Pold1 |
A |
G |
7: 44,190,449 (GRCm39) |
|
probably benign |
Het |
| Ppp1r21 |
T |
C |
17: 88,876,500 (GRCm39) |
|
probably benign |
Het |
| Prl5a1 |
A |
G |
13: 28,333,970 (GRCm39) |
K158E |
possibly damaging |
Het |
| Rag2 |
T |
G |
2: 101,460,948 (GRCm39) |
C419W |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,193,774 (GRCm39) |
S1395P |
probably damaging |
Het |
| Retnlb |
T |
G |
16: 48,639,022 (GRCm39) |
Y74* |
probably null |
Het |
| Robo3 |
A |
G |
9: 37,333,936 (GRCm39) |
S633P |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,740,104 (GRCm39) |
S3941P |
probably damaging |
Het |
| Scnn1b |
A |
G |
7: 121,511,698 (GRCm39) |
N370S |
probably damaging |
Het |
| Slc6a5 |
C |
A |
7: 49,588,156 (GRCm39) |
|
probably benign |
Het |
| Sort1 |
T |
A |
3: 108,252,247 (GRCm39) |
N481K |
probably benign |
Het |
| Sptlc3 |
T |
A |
2: 139,437,957 (GRCm39) |
I417K |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,099,063 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,946,134 (GRCm39) |
|
probably benign |
Het |
| Tchp |
T |
C |
5: 114,847,394 (GRCm39) |
M71T |
possibly damaging |
Het |
| Thsd4 |
T |
A |
9: 59,904,417 (GRCm39) |
H233L |
probably benign |
Het |
| Tmem217 |
G |
T |
17: 29,745,573 (GRCm39) |
N52K |
possibly damaging |
Het |
| Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
| Uqcrfs1 |
A |
C |
13: 30,725,146 (GRCm39) |
N131K |
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,232,845 (GRCm39) |
S896R |
probably benign |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,906 (GRCm39) |
M103L |
probably benign |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,363 (GRCm39) |
Y409C |
probably damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Wdr49 |
A |
T |
3: 75,359,103 (GRCm39) |
I8N |
possibly damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,632 (GRCm39) |
Y264N |
probably damaging |
Het |
| Zmym1 |
A |
C |
4: 126,941,818 (GRCm39) |
F857V |
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 |
|
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 |
|
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'- CCTGAACACGAATGAGGCCATTCTG -3'
(R):5'- ACTGCTCCTTTAGCATCACAGCAC -3'
Sequencing Primer
(F):5'- CGAATGAGGCCATTCTGAATTTTG -3'
(R):5'- TGGGACCCTCAAAGCCTTAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation