Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00391:Osbpl6'

7159

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Osbpl6

Ensembl Gene

ENSMUSG00000042359

Gene Name

oxysterol binding protein-like 6

Synonyms

1110062M20Rik, ORP-6

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

IGL00391

Quality Score

Status

Chromosome

Chromosomal Location

76236852-76430991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76420783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 786 (C786Y)

Ref Sequence

ENSEMBL: ENSMUSP00000107560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077972] [ENSMUST00000111929] [ENSMUST00000111930] [ENSMUST00000184442]

AlphaFold

Q8BXR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000077972
AA Change: C794Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: C794Y

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

probably damaging
Transcript: ENSMUST00000111929
AA Change: C786Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: C786Y

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

probably damaging
Transcript: ENSMUST00000111930
AA Change: C755Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: C755Y

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 damaging
Transcript: ENSMUST00000184442
AA Change: C648Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: C648Y

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

Coding Region Coverage

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. 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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,666 (GRCm39)	F519L	probably damaging	Het
Adgrl3	G	A	5: 81,872,071 (GRCm39)	V990M	probably damaging	Het
Ap4b1	A	G	3: 103,728,858 (GRCm39)	T499A	probably benign	Het
Cacna2d4	T	C	6: 119,314,894 (GRCm39)		probably benign	Het
Ccr5	T	A	9: 123,924,443 (GRCm39)	D15E	possibly damaging	Het
Clca4b	A	G	3: 144,621,322 (GRCm39)	V584A	possibly damaging	Het
Cmtr1	T	C	17: 29,893,236 (GRCm39)	M85T	probably damaging	Het
Col6a3	T	A	1: 90,755,977 (GRCm39)	H104L	probably damaging	Het
Coq9	A	T	8: 95,577,145 (GRCm39)	K170M	probably damaging	Het
Elmod1	A	G	9: 53,831,682 (GRCm39)		probably null	Het
Fam47e	A	C	5: 92,727,522 (GRCm39)	E143D	probably damaging	Het
Faxc	A	G	4: 21,948,725 (GRCm39)	K146E	probably damaging	Het
Myo7b	A	C	18: 32,154,609 (GRCm39)		probably benign	Het
Nmur1	G	A	1: 86,314,193 (GRCm39)	R381C	probably damaging	Het
Nsd2	T	G	5: 34,013,077 (GRCm39)	D469E	probably damaging	Het
Osgin2	T	C	4: 16,006,439 (GRCm39)	Y85C	probably damaging	Het
Otof	A	G	5: 30,532,967 (GRCm39)	C1587R	probably damaging	Het
Plaat5	A	T	19: 7,596,631 (GRCm39)		probably benign	Het
Plekha2	A	G	8: 25,547,343 (GRCm39)	V247A	probably damaging	Het
Plppr5	A	T	3: 117,465,592 (GRCm39)	N281I	possibly damaging	Het
Popdc3	A	G	10: 45,193,922 (GRCm39)		probably null	Het
Ppp1r12a	A	G	10: 108,034,709 (GRCm39)	N85D	probably damaging	Het
Serpinb8	A	G	1: 107,534,714 (GRCm39)	S262G	probably benign	Het
Sspo	G	A	6: 48,474,320 (GRCm39)	G4780R	probably damaging	Het
Ush2a	A	G	1: 188,648,258 (GRCm39)	E4621G	probably damaging	Het

Other mutations in Osbpl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8935:Osbpl6	UTSW	2	76,379,800 (GRCm39)	missense	possibly damaging	0.60
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

Posted On

2012-04-20