Incidental Mutation 'R9443:Osbpl1a'
| ID |
713782 |
| 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 # |
R9443 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 13031244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 329
(D329Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000122175]
|
| AlphaFold |
Q91XL9 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000122175
AA Change: D329Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113491
Gene: ENSMUSG00000044252
AA Change: D329Y
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
T |
C |
3: 37,146,140 (GRCm39) |
Y503H |
probably benign |
Het |
| Adck1 |
T |
C |
12: 88,338,550 (GRCm39) |
|
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,879,859 (GRCm39) |
D337G |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,189,587 (GRCm39) |
T448M |
probably damaging |
Het |
| Aqp6 |
T |
C |
15: 99,499,409 (GRCm39) |
S41P |
|
Het |
| Atad5 |
T |
G |
11: 80,023,388 (GRCm39) |
V1500G |
probably benign |
Het |
| B3galt9 |
C |
T |
2: 34,728,623 (GRCm39) |
Q141* |
probably null |
Het |
| Btbd18 |
T |
A |
2: 84,497,524 (GRCm39) |
D387E |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,969,720 (GRCm39) |
N605D |
possibly damaging |
Het |
| Ccdc24 |
C |
T |
4: 117,728,355 (GRCm39) |
V102I |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,976,609 (GRCm39) |
D2405E |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,195,023 (GRCm39) |
D2249G |
|
Het |
| Chrm1 |
A |
T |
19: 8,655,550 (GRCm39) |
Y85F |
possibly damaging |
Het |
| Clstn3 |
C |
T |
6: 124,428,358 (GRCm39) |
G465S |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,785,059 (GRCm39) |
G262D |
unknown |
Het |
| Copg2 |
T |
C |
6: 30,750,578 (GRCm39) |
T736A |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,333,080 (GRCm39) |
E435G |
probably benign |
Het |
| Cp |
A |
T |
3: 20,033,083 (GRCm39) |
I637F |
possibly damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,411 (GRCm39) |
F239L |
probably damaging |
Het |
| Cstdc2 |
C |
T |
2: 148,689,878 (GRCm39) |
E92K |
probably damaging |
Het |
| Cul2 |
T |
A |
18: 3,434,041 (GRCm39) |
Y679* |
probably null |
Het |
| Dhx8 |
T |
C |
11: 101,655,740 (GRCm39) |
Y1158H |
probably damaging |
Het |
| Eda |
G |
T |
X: 99,019,775 (GRCm39) |
R130L |
unknown |
Het |
| Elp6 |
T |
A |
9: 110,150,004 (GRCm39) |
V265D |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,313,640 (GRCm39) |
T562A |
|
Het |
| Fam187b |
A |
T |
7: 30,677,067 (GRCm39) |
E192V |
probably damaging |
Het |
| Foxi1 |
T |
C |
11: 34,155,671 (GRCm39) |
T320A |
probably benign |
Het |
| Gga1 |
C |
T |
15: 78,765,247 (GRCm39) |
T18I |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,571,037 (GRCm39) |
M223L |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,700,352 (GRCm39) |
N594S |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,324,523 (GRCm39) |
F1235C |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,523,765 (GRCm39) |
S484P |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,515,045 (GRCm39) |
S2933P |
probably damaging |
Het |
| Lama5 |
T |
A |
2: 179,843,522 (GRCm39) |
H475L |
probably benign |
Het |
| Ly6g6f |
A |
G |
17: 35,299,826 (GRCm39) |
L292P |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,365,668 (GRCm39) |
Q3031L |
probably benign |
Het |
| Mbd5 |
T |
G |
2: 49,146,712 (GRCm39) |
S307R |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,604,029 (GRCm39) |
F388L |
probably benign |
Het |
| Mmp11 |
A |
G |
10: 75,762,733 (GRCm39) |
F240S |
probably damaging |
Het |
| Mroh1 |
T |
A |
15: 76,318,964 (GRCm39) |
F949I |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,973,821 (GRCm39) |
L1113P |
probably damaging |
Het |
| Ndufv1 |
C |
A |
19: 4,057,614 (GRCm39) |
A454S |
probably benign |
Het |
| Or13e8 |
A |
G |
4: 43,696,591 (GRCm39) |
L194P |
probably damaging |
Het |
| Or56b2j |
T |
C |
7: 104,352,821 (GRCm39) |
S16P |
probably benign |
Het |
| Or5d46 |
T |
A |
2: 88,170,364 (GRCm39) |
W152R |
probably damaging |
Het |
| Pcdh1 |
C |
A |
18: 38,330,633 (GRCm39) |
R929L |
probably damaging |
Het |
| Phactr2 |
C |
T |
10: 13,122,841 (GRCm39) |
R427K |
probably benign |
Het |
| Pip5k1c |
T |
C |
10: 81,153,184 (GRCm39) |
Y670H |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,611,555 (GRCm39) |
N241Y |
probably damaging |
Het |
| Pmvk |
C |
A |
3: 89,374,956 (GRCm39) |
Q139K |
probably benign |
Het |
| Pramel30 |
T |
A |
4: 144,059,678 (GRCm39) |
I463N |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,967,523 (GRCm39) |
C136S |
probably damaging |
Het |
| Rcor3 |
A |
G |
1: 191,786,050 (GRCm39) |
V396A |
probably damaging |
Het |
| Rgs20 |
C |
A |
1: 4,982,629 (GRCm39) |
E147* |
probably null |
Het |
| Rnf167 |
G |
T |
11: 70,540,777 (GRCm39) |
L170F |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,395,553 (GRCm39) |
T164A |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,266,288 (GRCm39) |
Q210R |
probably benign |
Het |
| Slc52a3 |
A |
T |
2: 151,846,299 (GRCm39) |
I87F |
probably benign |
Het |
| Sntn |
A |
T |
14: 13,682,364 (GRCm38) |
M146L |
|
Het |
| Svep1 |
C |
T |
4: 58,179,697 (GRCm39) |
R182H |
possibly damaging |
Het |
| Taar7f |
A |
G |
10: 23,926,311 (GRCm39) |
I302V |
probably benign |
Het |
| Tm4sf20 |
T |
C |
1: 82,746,090 (GRCm39) |
I17V |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,836,748 (GRCm39) |
T270A |
probably benign |
Het |
| Trpm5 |
C |
T |
7: 142,638,860 (GRCm39) |
E304K |
probably benign |
Het |
| Ttll8 |
T |
C |
15: 88,809,863 (GRCm39) |
D311G |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,037,035 (GRCm39) |
F608I |
probably damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,195,159 (GRCm39) |
C722* |
probably null |
Het |
| Wdr7 |
A |
G |
18: 63,853,407 (GRCm39) |
T36A |
probably damaging |
Het |
| Ybx2 |
C |
T |
11: 69,831,188 (GRCm39) |
P261L |
|
Het |
| Zfp101 |
C |
T |
17: 33,601,418 (GRCm39) |
V113I |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,249 (GRCm39) |
S50P |
probably benign |
Het |
| Zfp319 |
A |
T |
8: 96,054,922 (GRCm39) |
F427Y |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,347 (GRCm39) |
S497P |
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 |
|
|
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 |
|
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'- AAAACAAAGGGCAGCTTCATTC -3'
(R):5'- TCAGGGACATTGTTTCCAGTG -3'
Sequencing Primer
(F):5'- GTGACCTCCATACAGAGCTATTTG -3'
(R):5'- CCAGTGAGTGAACATTGCTTTC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation