Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02597:Osbpl6'

299912

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 essential (E-score: 0.520) question?

Stock #

IGL02597

Quality Score

Status

Chromosome

Chromosomal Location

76236852-76430991 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 76386318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 214 (Q214*)

Ref Sequence

ENSEMBL: ENSMUSP00000139363 (fasta)

Gene Model

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

AlphaFold

Q8BXR9

Predicted Effect

probably null
Transcript: ENSMUST00000077972
AA Change: Q327*

SMART Domains

Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: Q327*

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 null
Transcript: ENSMUST00000111929
AA Change: Q327*

SMART Domains

Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: Q327*

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 benign
Transcript: ENSMUST00000111930

SMART Domains

Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359

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 null
Transcript: ENSMUST00000184442
AA Change: Q214*

SMART Domains

Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: Q214*

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	A	G	10: 85,469,665 (GRCm39)	Y862C	probably damaging	Het
Anapc1	T	C	2: 128,465,851 (GRCm39)	K1648E	probably benign	Het
Arhgef10	C	T	8: 14,980,198 (GRCm39)	A146V	probably benign	Het
Atp7a	A	T	X: 105,113,494 (GRCm39)	N34I	probably benign	Het
Casq2	A	G	3: 102,033,953 (GRCm39)	Y232C	probably damaging	Het
Cdan1	A	T	2: 120,555,720 (GRCm39)	N738K	probably benign	Het
Cdh24	A	G	14: 54,870,972 (GRCm39)	V132A	possibly damaging	Het
Chd5	C	A	4: 152,456,169 (GRCm39)	T946K	probably damaging	Het
Clip4	T	C	17: 72,156,965 (GRCm39)		probably benign	Het
Copz2	T	C	11: 96,748,425 (GRCm39)		probably benign	Het
Cyp2c39	C	A	19: 39,549,331 (GRCm39)	S283*	probably null	Het
Dlec1	A	T	9: 118,963,604 (GRCm39)	S973C	probably damaging	Het
Far1	A	T	7: 113,150,463 (GRCm39)	T264S	probably benign	Het
Iqgap1	A	G	7: 80,373,633 (GRCm39)	L1452P	probably damaging	Het
Irx5	A	C	8: 93,087,400 (GRCm39)	N444T	possibly damaging	Het
Kcnip2	A	G	19: 45,784,712 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,761,712 (GRCm39)	M546K	unknown	Het
Lrrc37a	A	G	11: 103,395,113 (GRCm39)	L104S	probably benign	Het
Med12	T	C	X: 100,328,538 (GRCm39)	L1143P	probably damaging	Het
Mtcl1	T	C	17: 66,645,016 (GRCm39)	H1477R	probably benign	Het
Nkap	T	A	X: 36,411,437 (GRCm39)		probably benign	Het
Ntmt2	A	G	1: 163,544,656 (GRCm39)	V109A	probably benign	Het
Or10a2	A	T	7: 106,673,646 (GRCm39)	T204S	possibly damaging	Het
Pex1	C	T	5: 3,685,865 (GRCm39)	T1202I	possibly damaging	Het
Prrc2b	A	T	2: 32,109,625 (GRCm39)	N1066I	probably damaging	Het
Psmg1	T	C	16: 95,788,497 (GRCm39)	E152G	probably damaging	Het
Scn10a	A	G	9: 119,439,189 (GRCm39)	I1560T	probably damaging	Het
Shd	A	G	17: 56,280,987 (GRCm39)	E221G	possibly damaging	Het
Slc39a4	T	C	15: 76,497,824 (GRCm39)	T478A	probably benign	Het
Snx2	A	G	18: 53,343,444 (GRCm39)	I281V	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tmem161a	A	T	8: 70,634,693 (GRCm39)	R297S	probably damaging	Het
Tns1	A	G	1: 74,025,032 (GRCm39)		probably null	Het
Ugt2b36	G	A	5: 87,228,783 (GRCm39)	T420M	probably damaging	Het
Wdfy4	G	A	14: 32,812,818 (GRCm39)	R1652*	probably null	Het
Zap70	T	A	1: 36,811,001 (GRCm39)	Y178*	probably null	Het
Zdhhc3	A	G	9: 122,929,456 (GRCm39)	F60L	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
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

2015-04-16