Incidental Mutation 'R8935:Osbpl6'
| ID |
680552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl6
|
| Ensembl Gene |
ENSMUSG00000042359 |
| Gene Name |
oxysterol binding protein-like 6 |
| Synonyms |
1110062M20Rik, ORP-6 |
| MMRRC Submission |
068778-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R8935 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
76236852-76430991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76379800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 130
(V130A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077972]
[ENSMUST00000111929]
[ENSMUST00000111930]
[ENSMUST00000184442]
|
| AlphaFold |
Q8BXR9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077972
AA Change: V130A
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: V130A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
PH
|
87 |
183 |
3.65e-7 |
SMART |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
255 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
550 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
603 |
951 |
1.4e-135 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111929
AA Change: V130A
PolyPhen 2
Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: V130A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
PH
|
87 |
183 |
3.65e-7 |
SMART |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
255 |
285 |
N/A |
INTRINSIC |
|
coiled coil region
|
441 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
542 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
595 |
944 |
1.1e-139 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111930
AA Change: V130A
PolyPhen 2
Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: V130A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
PH
|
87 |
183 |
3.65e-7 |
SMART |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
255 |
285 |
N/A |
INTRINSIC |
|
coiled coil region
|
410 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
511 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
564 |
913 |
1e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184442
AA Change: V17A
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: V17A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
70 |
8e-41 |
BLAST |
|
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
|
coiled coil region
|
142 |
172 |
N/A |
INTRINSIC |
|
coiled coil region
|
303 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
404 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
457 |
794 |
2.6e-135 |
PFAM |
|
| Meta Mutation Damage Score |
0.1410 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2)
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
G |
T |
8: 117,698,181 (GRCm39) |
Q309K |
probably benign |
Het |
| Adam20 |
T |
C |
8: 41,247,989 (GRCm39) |
V33A |
probably benign |
Het |
| Ank |
T |
C |
15: 27,591,112 (GRCm39) |
V417A |
probably damaging |
Het |
| Arhgef17 |
C |
T |
7: 100,527,324 (GRCm39) |
V779I |
probably benign |
Het |
| Atp6v0a1 |
T |
A |
11: 100,929,519 (GRCm39) |
F440I |
possibly damaging |
Het |
| Brca2 |
T |
G |
5: 150,492,446 (GRCm39) |
S3154A |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,233,770 (GRCm39) |
E433K |
probably damaging |
Het |
| Cep192 |
C |
T |
18: 67,995,543 (GRCm39) |
T970I |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,153,210 (GRCm39) |
T249A |
possibly damaging |
Het |
| Cpd |
C |
T |
11: 76,731,295 (GRCm39) |
G304S |
probably damaging |
Het |
| Cpsf7 |
T |
A |
19: 10,509,345 (GRCm39) |
Y85* |
probably null |
Het |
| Csf3r |
T |
A |
4: 125,937,200 (GRCm39) |
S695T |
probably benign |
Het |
| Cyp20a1 |
A |
G |
1: 60,410,473 (GRCm39) |
Q258R |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,412,600 (GRCm39) |
L104Q |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,983,066 (GRCm39) |
S733P |
possibly damaging |
Het |
| Efhd1 |
A |
G |
1: 87,217,219 (GRCm39) |
D112G |
probably damaging |
Het |
| Elapor2 |
C |
T |
5: 9,491,764 (GRCm39) |
T708M |
probably damaging |
Het |
| Fgfr3 |
A |
C |
5: 33,892,810 (GRCm39) |
D752A |
probably damaging |
Het |
| Fmod |
C |
A |
1: 133,968,586 (GRCm39) |
H209N |
probably benign |
Het |
| Gde1 |
C |
T |
7: 118,297,914 (GRCm39) |
E101K |
possibly damaging |
Het |
| Gldc |
C |
T |
19: 30,109,093 (GRCm39) |
R615Q |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,764,122 (GRCm39) |
E1343G |
probably damaging |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
A |
G |
1: 166,469,789 (GRCm39) |
Y95H |
probably damaging |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,945,181 (GRCm39) |
|
probably null |
Het |
| Haspin |
A |
G |
11: 73,026,890 (GRCm39) |
F733S |
probably damaging |
Het |
| Hgh1 |
C |
G |
15: 76,254,592 (GRCm39) |
R323G |
probably damaging |
Het |
| Idh1 |
A |
T |
1: 65,204,378 (GRCm39) |
I244N |
probably damaging |
Het |
| Idh2 |
T |
C |
7: 79,764,946 (GRCm39) |
T27A |
probably benign |
Het |
| Igkv4-69 |
T |
C |
6: 69,260,912 (GRCm39) |
T72A |
possibly damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,489,229 (GRCm39) |
Y11H |
probably benign |
Het |
| Myt1l |
T |
C |
12: 29,877,243 (GRCm39) |
M298T |
unknown |
Het |
| Neb |
T |
C |
2: 52,141,780 (GRCm39) |
D3009G |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,700,294 (GRCm39) |
|
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,767,586 (GRCm39) |
D180G |
probably damaging |
Het |
| Or10ag60 |
A |
G |
2: 87,438,421 (GRCm39) |
T230A |
possibly damaging |
Het |
| Or4k50-ps1 |
A |
T |
2: 111,522,244 (GRCm39) |
Q127L |
unknown |
Het |
| Prss44 |
T |
A |
9: 110,645,527 (GRCm39) |
I94N |
probably damaging |
Het |
| Rbm6 |
C |
T |
9: 107,677,945 (GRCm39) |
V15I |
probably benign |
Het |
| Rdh19 |
C |
T |
10: 127,685,929 (GRCm39) |
L14F |
possibly damaging |
Het |
| Rtkn |
T |
C |
6: 83,115,196 (GRCm39) |
L14P |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,508,402 (GRCm39) |
N3405K |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,950,072 (GRCm39) |
E179G |
probably damaging |
Het |
| Sema3e |
A |
T |
5: 14,282,127 (GRCm39) |
K421I |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,193,202 (GRCm39) |
V755M |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,607,436 (GRCm39) |
I1328V |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,399,250 (GRCm39) |
K2232N |
probably benign |
Het |
| St7l |
A |
G |
3: 104,778,204 (GRCm39) |
I114V |
probably damaging |
Het |
| Stkld1 |
C |
T |
2: 26,833,941 (GRCm39) |
Q143* |
probably null |
Het |
| Stox2 |
T |
C |
8: 47,645,895 (GRCm39) |
T586A |
possibly damaging |
Het |
| Supt20 |
A |
G |
3: 54,634,988 (GRCm39) |
|
probably null |
Het |
| Tectb |
G |
T |
19: 55,183,132 (GRCm39) |
V338L |
probably benign |
Het |
| Tiam1 |
T |
C |
16: 89,681,821 (GRCm39) |
N386D |
probably damaging |
Het |
| Trps1 |
G |
A |
15: 50,752,344 (GRCm39) |
Q2* |
probably null |
Het |
| Usp36 |
C |
T |
11: 118,167,657 (GRCm39) |
|
probably null |
Het |
| Vmn1r198 |
C |
T |
13: 22,539,092 (GRCm39) |
Q104* |
probably null |
Het |
| Vmn1r38 |
T |
C |
6: 66,753,979 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn2r110 |
A |
G |
17: 20,803,957 (GRCm39) |
V206A |
probably benign |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,791 (GRCm39) |
D231V |
probably benign |
Het |
| Zfp143 |
T |
C |
7: 109,669,736 (GRCm39) |
L55P |
probably damaging |
Het |
|
| Other mutations in Osbpl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Osbpl6
|
APN |
2 |
76,420,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01109:Osbpl6
|
APN |
2 |
76,379,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01288:Osbpl6
|
APN |
2 |
76,395,167 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01717:Osbpl6
|
APN |
2 |
76,418,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02146:Osbpl6
|
APN |
2 |
76,380,094 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02597:Osbpl6
|
APN |
2 |
76,386,318 (GRCm39) |
nonsense |
probably null |
|
|
IGL02652:Osbpl6
|
APN |
2 |
76,423,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02867:Osbpl6
|
APN |
2 |
76,426,214 (GRCm39) |
splice site |
probably benign |
|
|
IGL03143:Osbpl6
|
APN |
2 |
76,378,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Osbpl6
|
UTSW |
2 |
76,416,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Osbpl6
|
UTSW |
2 |
76,423,758 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0201:Osbpl6
|
UTSW |
2 |
76,376,386 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0573:Osbpl6
|
UTSW |
2 |
76,420,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0644:Osbpl6
|
UTSW |
2 |
76,425,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0855:Osbpl6
|
UTSW |
2 |
76,422,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0855:Osbpl6
|
UTSW |
2 |
76,415,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1017:Osbpl6
|
UTSW |
2 |
76,380,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Osbpl6
|
UTSW |
2 |
76,385,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1505:Osbpl6
|
UTSW |
2 |
76,409,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Osbpl6
|
UTSW |
2 |
76,409,560 (GRCm39) |
missense |
probably benign |
|
|
R1786:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Osbpl6
|
UTSW |
2 |
76,415,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2233:Osbpl6
|
UTSW |
2 |
76,417,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2235:Osbpl6
|
UTSW |
2 |
76,417,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2256:Osbpl6
|
UTSW |
2 |
76,414,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2294:Osbpl6
|
UTSW |
2 |
76,407,423 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3023:Osbpl6
|
UTSW |
2 |
76,417,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Osbpl6
|
UTSW |
2 |
76,415,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4544:Osbpl6
|
UTSW |
2 |
76,414,836 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4546:Osbpl6
|
UTSW |
2 |
76,414,836 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4664:Osbpl6
|
UTSW |
2 |
76,398,552 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4764:Osbpl6
|
UTSW |
2 |
76,376,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Osbpl6
|
UTSW |
2 |
76,379,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5080:Osbpl6
|
UTSW |
2 |
76,354,429 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5430:Osbpl6
|
UTSW |
2 |
76,416,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5614:Osbpl6
|
UTSW |
2 |
76,398,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5807:Osbpl6
|
UTSW |
2 |
76,414,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5956:Osbpl6
|
UTSW |
2 |
76,379,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Osbpl6
|
UTSW |
2 |
76,386,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6430:Osbpl6
|
UTSW |
2 |
76,409,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Osbpl6
|
UTSW |
2 |
76,395,174 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7116:Osbpl6
|
UTSW |
2 |
76,426,225 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7385:Osbpl6
|
UTSW |
2 |
76,379,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Osbpl6
|
UTSW |
2 |
76,423,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Osbpl6
|
UTSW |
2 |
76,416,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7829:Osbpl6
|
UTSW |
2 |
76,423,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7921:Osbpl6
|
UTSW |
2 |
76,415,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Osbpl6
|
UTSW |
2 |
76,415,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Osbpl6
|
UTSW |
2 |
76,386,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8548:Osbpl6
|
UTSW |
2 |
76,409,566 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8682:Osbpl6
|
UTSW |
2 |
76,407,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9157:Osbpl6
|
UTSW |
2 |
76,382,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9303:Osbpl6
|
UTSW |
2 |
76,378,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9305:Osbpl6
|
UTSW |
2 |
76,378,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Osbpl6
|
UTSW |
2 |
76,415,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9536:Osbpl6
|
UTSW |
2 |
76,416,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9564:Osbpl6
|
UTSW |
2 |
76,426,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Osbpl6
|
UTSW |
2 |
76,425,191 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9585:Osbpl6
|
UTSW |
2 |
76,354,438 (GRCm39) |
missense |
probably benign |
|
|
R9771:Osbpl6
|
UTSW |
2 |
76,423,771 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9790:Osbpl6
|
UTSW |
2 |
76,385,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Osbpl6
|
UTSW |
2 |
76,385,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Osbpl6
|
UTSW |
2 |
76,370,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z31818:Osbpl6
|
UTSW |
2 |
76,385,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCATGCTGAGATTGATGTGAAG -3'
(R):5'- AACAGTCTCTTTGCTGCCAC -3'
Sequencing Primer
(F):5'- GGAGATCCAACTGTCCTTAGTGC -3'
(R):5'- CACTGGTGTGGGAAAATCACATCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation