Incidental Mutation 'R7105:Osbpl1a'
| ID |
551145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl1a
|
| Ensembl Gene |
ENSMUSG00000044252 |
| Gene Name |
oxysterol binding protein-like 1A |
| Synonyms |
G430090F17Rik, LOC328902 |
| MMRRC Submission |
045197-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R7105 (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 A
at 12900020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 645
(I645F)
|
| 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: I645F
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: I645F
| 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: I132F
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: I132F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118313
AA Change: I132F
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: I132F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119043
AA Change: I132F
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: I132F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119512
AA Change: I253F
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: I253F
| 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: I105F
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: I105F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
8 |
401 |
4e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121808
AA Change: I132F
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: I132F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121888
AA Change: I132F
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: I132F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143077
AA Change: I132F
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000122967
Gene: ENSMUSG00000044252
AA Change: I132F
| 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 |
|
| Meta Mutation Damage Score |
0.4538 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (65/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,347,842 (GRCm39) |
I3565N |
probably damaging |
Het |
| Adam8 |
T |
C |
7: 139,569,968 (GRCm39) |
E99G |
probably benign |
Het |
| Adnp2 |
A |
C |
18: 80,171,366 (GRCm39) |
H1014Q |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 111,423,920 (GRCm39) |
N315K |
probably benign |
Het |
| Ankrd33b |
G |
T |
15: 31,305,214 (GRCm39) |
N183K |
probably damaging |
Het |
| Arhgef39 |
A |
G |
4: 43,498,913 (GRCm39) |
S113P |
possibly damaging |
Het |
| Bdp1 |
G |
A |
13: 100,206,689 (GRCm39) |
P618S |
probably damaging |
Het |
| Bhlhe40 |
C |
T |
6: 108,641,997 (GRCm39) |
P314S |
possibly damaging |
Het |
| Birc2 |
A |
C |
9: 7,819,442 (GRCm39) |
I490S |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,149,516 (GRCm39) |
I698V |
probably benign |
Het |
| C4b |
G |
A |
17: 34,949,885 (GRCm39) |
T1433M |
possibly damaging |
Het |
| Car12 |
A |
G |
9: 66,659,688 (GRCm39) |
T238A |
probably damaging |
Het |
| Cend1 |
G |
A |
7: 141,007,565 (GRCm39) |
P85L |
probably benign |
Het |
| Cftr |
A |
T |
6: 18,318,971 (GRCm39) |
D1337V |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,309,491 (GRCm39) |
M248K |
probably damaging |
Het |
| Chtf8 |
A |
G |
8: 107,611,883 (GRCm39) |
F352S |
probably damaging |
Het |
| Cimip4 |
T |
A |
15: 78,270,318 (GRCm39) |
D150V |
possibly damaging |
Het |
| Csf2ra |
T |
C |
19: 61,213,458 (GRCm39) |
D384G |
possibly damaging |
Het |
| Ctnnbip1 |
T |
C |
4: 149,630,937 (GRCm39) |
S59P |
probably benign |
Het |
| Cyth3 |
A |
G |
5: 143,693,027 (GRCm39) |
N312D |
probably benign |
Het |
| Dtnb |
T |
C |
12: 3,698,391 (GRCm39) |
|
probably null |
Het |
| Duox2 |
A |
G |
2: 122,120,033 (GRCm39) |
S826P |
possibly damaging |
Het |
| Enthd1 |
C |
T |
15: 80,393,410 (GRCm39) |
A273T |
probably benign |
Het |
| Gm3138 |
T |
C |
14: 15,632,304 (GRCm39) |
V159A |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,701,638 (GRCm39) |
D632G |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,911,956 (GRCm39) |
C114S |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,105,097 (GRCm39) |
D765G |
probably damaging |
Het |
| Klf14 |
TCCCC |
TCCC |
6: 30,935,476 (GRCm39) |
|
probably null |
Het |
| Mapk12 |
G |
A |
15: 89,015,361 (GRCm39) |
P362L |
probably benign |
Het |
| Msi1 |
T |
G |
5: 115,571,929 (GRCm39) |
F96V |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 4,053,261 (GRCm39) |
V870A |
probably benign |
Het |
| Nfat5 |
T |
C |
8: 108,095,823 (GRCm39) |
S1355P |
possibly damaging |
Het |
| Oplah |
T |
C |
15: 76,181,887 (GRCm39) |
N1079D |
probably damaging |
Het |
| Or2ah1 |
G |
T |
2: 85,654,224 (GRCm39) |
R303M |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,064,624 (GRCm39) |
S728P |
probably benign |
Het |
| Parp2 |
TTGCCATAAGTGCTAAATGAAGCC |
T |
14: 51,047,521 (GRCm39) |
|
probably null |
Het |
| Piezo1 |
A |
G |
8: 123,208,857 (GRCm39) |
I2503T |
unknown |
Het |
| Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
| Plekhs1 |
T |
A |
19: 56,465,647 (GRCm39) |
F204Y |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,537,341 (GRCm39) |
N330S |
probably benign |
Het |
| Pramel32 |
G |
A |
4: 88,548,339 (GRCm39) |
S22F |
probably damaging |
Het |
| Prep |
T |
A |
10: 45,002,159 (GRCm39) |
I438N |
probably benign |
Het |
| Prss58 |
T |
C |
6: 40,874,700 (GRCm39) |
H47R |
probably damaging |
Het |
| Rad51ap2 |
T |
G |
12: 11,508,278 (GRCm39) |
D733E |
possibly damaging |
Het |
| Robo1 |
A |
T |
16: 72,539,049 (GRCm39) |
I31F |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,377,328 (GRCm39) |
Y381C |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,233,269 (GRCm39) |
V87A |
probably benign |
Het |
| Slc5a9 |
T |
C |
4: 111,755,892 (GRCm39) |
N2S |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,991,319 (GRCm39) |
D1024G |
probably damaging |
Het |
| Stat1 |
T |
G |
1: 52,190,408 (GRCm39) |
N554K |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,572,635 (GRCm39) |
D110G |
possibly damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,280,917 (GRCm39) |
|
probably null |
Het |
| Taf5l |
A |
G |
8: 124,729,951 (GRCm39) |
I246T |
probably damaging |
Het |
| Tcof1 |
A |
T |
18: 60,976,368 (GRCm39) |
D80E |
probably damaging |
Het |
| Tmem233 |
T |
C |
5: 116,221,057 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,181 (GRCm39) |
E390G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,560,610 (GRCm39) |
T29264A |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,009,019 (GRCm39) |
T1065A |
|
Het |
| Vcp |
A |
G |
4: 42,985,991 (GRCm39) |
V341A |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,748 (GRCm39) |
L135* |
probably null |
Het |
| Vmn1r57 |
T |
A |
7: 5,223,499 (GRCm39) |
I8N |
probably damaging |
Het |
| Ythdc2 |
C |
T |
18: 44,967,630 (GRCm39) |
P209S |
probably damaging |
Het |
| Zfp213 |
A |
T |
17: 23,777,178 (GRCm39) |
V288D |
probably benign |
Het |
| Zfp362 |
T |
C |
4: 128,668,319 (GRCm39) |
I418V |
probably damaging |
Het |
| Zfp707 |
C |
A |
15: 75,846,595 (GRCm39) |
T215K |
|
Het |
| Zfp957 |
G |
C |
14: 79,450,402 (GRCm39) |
R466G |
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 |
|
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'- CCACATGAGAAAGAATGGTTTTCGC -3'
(R):5'- GCAGCTCGCTTTCTAATGGC -3'
Sequencing Primer
(F):5'- GGTTTTCGCATACTCACTCTAAAAGC -3'
(R):5'- TTCTAATGGCATTGGACAGAGTAGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation