Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Osbpl1a'

236693

Institutional Source

Beutler Lab

Gene Symbol

Osbpl1a

Ensembl Gene

ENSMUSG00000044252

Gene Name

oxysterol binding protein-like 1A

Synonyms

G430090F17Rik, LOC328902

MMRRC Submission

040147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12888371-13074898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13004230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 396 (S396T)

Ref Sequence

ENSEMBL: ENSMUSP00000073957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000119512] [ENSMUST00000155650]

AlphaFold

Q91XL9

Predicted Effect

probably benign
Transcript: ENSMUST00000074352
AA Change: S396T

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: S396T

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: ENSMUST00000119512
AA Change: S4T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: S4T

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

noncoding transcript
Transcript: ENSMUST00000132594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154614

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,412 (GRCm39)	T69S	unknown	Het
4930553M12Rik	G	A	4: 88,786,411 (GRCm39)	T69I	unknown	Het
Acsl6	A	T	11: 54,232,604 (GRCm39)	Q485L	probably damaging	Het
Adam5	C	A	8: 25,305,496 (GRCm39)	V81F	probably benign	Het
Aoc1l1	A	G	6: 48,952,225 (GRCm39)	H50R	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Birc6	A	T	17: 74,967,408 (GRCm39)	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,562,401 (GRCm39)	F999L	probably benign	Het
Cap2	A	T	13: 46,713,978 (GRCm39)		probably null	Het
Ccnk	T	A	12: 108,155,349 (GRCm39)	L102Q	probably null	Het
Cd52	T	C	4: 133,821,048 (GRCm39)		probably benign	Het
Cdc123	A	T	2: 5,815,617 (GRCm39)	I160K	probably benign	Het
Cep85l	T	C	10: 53,234,222 (GRCm39)	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,029,440 (GRCm39)	T298I	probably benign	Het
Cpsf4	G	T	5: 145,115,572 (GRCm39)	S192I	probably benign	Het
Cpxm1	A	G	2: 130,239,330 (GRCm39)	S33P	probably benign	Het
Cyp2a12	A	T	7: 26,734,194 (GRCm39)	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,392,894 (GRCm39)	F137S	probably damaging	Het
Des	A	G	1: 75,343,448 (GRCm39)	T444A	probably benign	Het
Dgcr8	C	T	16: 18,102,120 (GRCm39)	G54D	probably damaging	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dsc3	A	G	18: 20,113,743 (GRCm39)	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Eml5	A	C	12: 98,776,864 (GRCm39)	F1417C	probably damaging	Het
Ep400	A	T	5: 110,851,384 (GRCm39)	M1366K	unknown	Het
Epg5	G	T	18: 77,997,412 (GRCm39)	C425F	possibly damaging	Het
Epha3	C	G	16: 63,593,680 (GRCm39)	R136P	possibly damaging	Het
Extl1	C	A	4: 134,098,355 (GRCm39)	E225D	probably benign	Het
Fam186b	A	G	15: 99,178,538 (GRCm39)	Y263H	probably benign	Het
Fbn2	A	G	18: 58,186,065 (GRCm39)	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,499,383 (GRCm39)	M1251K	probably benign	Het
Gart	A	T	16: 91,426,969 (GRCm39)	I555N	probably damaging	Het
Gm11596	A	T	11: 99,683,789 (GRCm39)	C110*	probably null	Het
Gnptab	C	T	10: 88,264,368 (GRCm39)	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,408,243 (GRCm39)	V263A	probably benign	Het
Gxylt1	T	C	15: 93,152,361 (GRCm39)	I224V	probably benign	Het
H2-Aa	A	G	17: 34,502,801 (GRCm39)	S122P	probably damaging	Het
Hsph1	A	C	5: 149,553,802 (GRCm39)		probably null	Het
Hunk	G	A	16: 90,229,420 (GRCm39)	D94N	probably damaging	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,538,017 (GRCm39)		probably null	Het
Ints10	A	G	8: 69,249,457 (GRCm39)	T96A	probably damaging	Het
Kansl2	A	T	15: 98,424,512 (GRCm39)	V306E	probably benign	Het
Kif20a	A	G	18: 34,758,657 (GRCm39)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,471,644 (GRCm39)	I50V	probably benign	Het
Ktn1	A	G	14: 47,952,109 (GRCm39)	E983G	probably damaging	Het
Lrrk1	G	A	7: 65,945,911 (GRCm39)	S566L	probably damaging	Het
M6pr	A	G	6: 122,292,326 (GRCm39)	M174V	probably benign	Het
Man2a2	A	G	7: 80,013,264 (GRCm39)	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,922,059 (GRCm39)	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,311,533 (GRCm39)		probably null	Het
Mrgpra9	T	C	7: 46,885,211 (GRCm39)	E152G	probably benign	Het
Mst1r	T	C	9: 107,790,367 (GRCm39)	V660A	probably benign	Het
Myof	A	G	19: 37,969,669 (GRCm39)		probably null	Het
Myrf	G	A	19: 10,206,038 (GRCm39)	P126L	probably benign	Het
Nckap1l	C	T	15: 103,384,103 (GRCm39)	A567V	probably damaging	Het
Nphs1	A	G	7: 30,160,395 (GRCm39)	E169G	probably benign	Het
Npy1r	T	A	8: 67,157,836 (GRCm39)	V382D	probably benign	Het
Nrl	A	T	14: 55,758,307 (GRCm39)	M140K	possibly damaging	Het
Odad2	C	T	18: 7,127,229 (GRCm39)	E995K	probably damaging	Het
Or14c39	T	A	7: 86,344,488 (GRCm39)	F275I	probably damaging	Het
Or2ag1b	A	T	7: 106,288,164 (GRCm39)	M258K	probably damaging	Het
Or4f56	A	G	2: 111,703,768 (GRCm39)	I144T	probably damaging	Het
Or5ac17	C	T	16: 59,036,389 (GRCm39)	V196M	probably benign	Het
Or8d2	C	T	9: 38,759,635 (GRCm39)	T75I	probably damaging	Het
Orc5	T	A	5: 22,752,925 (GRCm39)	L36F	possibly damaging	Het
Pappa	T	A	4: 65,099,186 (GRCm39)	Y568*	probably null	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pclo	C	T	5: 14,908,766 (GRCm39)	L5025F	unknown	Het
Pde3a	T	C	6: 141,435,837 (GRCm39)	V924A	probably benign	Het
Pdpr	A	G	8: 111,844,668 (GRCm39)	N355S	probably damaging	Het
Pepd	A	T	7: 34,620,843 (GRCm39)	K36M	probably benign	Het
Pet100	T	G	8: 3,672,355 (GRCm39)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Pik3r6	T	A	11: 68,434,437 (GRCm39)	L546*	probably null	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Primpol	A	T	8: 47,039,378 (GRCm39)	M414K	probably damaging	Het
Prol1	A	T	5: 88,476,254 (GRCm39)	T215S	unknown	Het
Prss22	A	G	17: 24,213,656 (GRCm39)	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,230,524 (GRCm39)	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,316,802 (GRCm39)	T245M	probably damaging	Het
Rbm26	T	A	14: 105,352,638 (GRCm39)	R1009*	probably null	Het
Rbm42	A	G	7: 30,340,535 (GRCm39)	*450Q	probably null	Het
Rere	T	C	4: 150,701,388 (GRCm39)	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,555,797 (GRCm39)	L15F	probably damaging	Het
Rnf213	T	C	11: 119,334,516 (GRCm39)	S3242P	probably damaging	Het
Rtel1	T	A	2: 180,965,499 (GRCm39)	V167E	probably damaging	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,457,893 (GRCm39)	L203P	probably damaging	Het
Skint6	T	C	4: 113,093,457 (GRCm39)	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,755,104 (GRCm39)	Y566C	probably damaging	Het
Smgc	T	G	15: 91,728,624 (GRCm39)	D121E	possibly damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
St7	A	T	6: 17,886,006 (GRCm39)	N52I	possibly damaging	Het
Sycn	C	A	7: 28,240,494 (GRCm39)	Q54K	probably benign	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,619,738 (GRCm39)	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,449,363 (GRCm39)	Y443H	probably damaging	Het
Tmem200c	A	T	17: 69,149,244 (GRCm39)	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,535,614 (GRCm39)	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,301,598 (GRCm39)	V23G	possibly damaging	Het
Trhr	T	C	15: 44,060,579 (GRCm39)	V33A	probably benign	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Trnt1	A	G	6: 106,755,000 (GRCm39)	K244E	probably damaging	Het
Tsfm	G	A	10: 126,864,314 (GRCm39)	Q134*	probably null	Het
Ttll9	A	G	2: 152,844,927 (GRCm39)	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,603,690 (GRCm39)	L623F	probably damaging	Het
Wdr55	A	G	18: 36,895,419 (GRCm39)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,787,040 (GRCm39)	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,925,949 (GRCm39)		probably benign	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp300	A	G	X: 20,948,190 (GRCm39)	S525P	possibly damaging	Het
Zfp592	A	G	7: 80,687,950 (GRCm39)	T959A	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
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
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'- AGCTTTAACACAATGGCTTACC -3'
(R):5'- TTTAGCATCACAGCACTGCCC -3'

Sequencing Primer
(F):5'- GGCTTACCAGCTTATTAGACACGTG -3'
(R):5'- TGGGACCCTCAAAGCCTTAG -3'

Posted On

2014-10-01