Mutagenetix > Incidental Mutation

Incidental Mutation 'R1931:Osbpl1a'

215410

Institutional Source

Beutler Lab

Gene Symbol

Osbpl1a

Ensembl Gene

ENSMUSG00000044252

Gene Name

oxysterol binding protein-like 1A

Synonyms

G430090F17Rik, LOC328902

MMRRC Submission

039949-MU

Accession Numbers

Essential gene?

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

Stock #

R1931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12888371-13074898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13038251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 269 (Q269L)

Ref Sequence

ENSEMBL: ENSMUSP00000113491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000122175] [ENSMUST00000147197]

AlphaFold

Q91XL9

Predicted Effect

probably benign
Transcript: ENSMUST00000074352
AA Change: Q269L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: Q269L

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: ENSMUST00000122175
AA Change: Q269L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113491
Gene: ENSMUSG00000044252
AA Change: Q269L

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	335	3.63e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132594

Predicted Effect

probably benign
Transcript: ENSMUST00000147197

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	G	6: 86,933,318 (GRCm39)	S430A	unknown	Het
Abhd16a	T	A	17: 35,319,991 (GRCm39)	F337L	probably benign	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,685 (GRCm39)	Q647K	probably benign	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,260,648 (GRCm39)	E961G	possibly damaging	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,112,460 (GRCm39)	M1332V	probably damaging	Het
Birc6	T	C	17: 74,872,977 (GRCm39)	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Coro2a	A	T	4: 46,539,138 (GRCm39)	*544R	probably null	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,040,568 (GRCm39)	N278D	probably benign	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Dpp3	A	T	19: 4,967,888 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,797,881 (GRCm39)	R433H	possibly damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Eif4b	T	C	15: 101,997,411 (GRCm39)	S309P	unknown	Het
Eml3	G	A	19: 8,914,507 (GRCm39)	V507M	probably benign	Het
Ezhip	T	C	X: 5,994,817 (GRCm39)	E66G	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Fsip2	T	A	2: 82,817,077 (GRCm39)	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Gfm1	A	G	3: 67,363,918 (GRCm39)	K465E	probably benign	Het
Gpld1	A	T	13: 25,127,693 (GRCm39)	I32L	possibly damaging	Het
H4c12	A	T	13: 21,934,682 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,857 (GRCm39)	T143A	probably benign	Het
Hoxd12	A	G	2: 74,505,875 (GRCm39)	T149A	probably benign	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,677,756 (GRCm39)	N287I	probably damaging	Het
Itga4	G	A	2: 79,144,188 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,141,852 (GRCm39)	V1730A	probably benign	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Lcn10	A	G	2: 25,574,347 (GRCm39)	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nckap5l	A	G	15: 99,325,142 (GRCm39)	F454L	probably damaging	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Olfm1	G	A	2: 28,112,674 (GRCm39)		probably null	Het
Or2at4	G	T	7: 99,385,067 (GRCm39)	R239L	possibly damaging	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Or7g30	T	C	9: 19,352,647 (GRCm39)	L146P	possibly damaging	Het
Osbp2	T	C	11: 3,676,333 (GRCm39)		probably null	Het
Papss2	T	A	19: 32,616,368 (GRCm39)	C191*	probably null	Het
Pbxip1	A	T	3: 89,354,984 (GRCm39)		probably null	Het
Pdp1	A	G	4: 11,962,074 (GRCm39)	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612 (GRCm39)	T452A	probably benign	Het
Polr2a	A	T	11: 69,626,201 (GRCm39)	Y1612N	unknown	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Prr11	A	T	11: 86,996,868 (GRCm39)	L32*	probably null	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rps6kb1	A	G	11: 86,423,647 (GRCm39)	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,247,952 (GRCm39)	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
St8sia6	A	G	2: 13,797,623 (GRCm39)	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698 (GRCm39)	R470*	probably null	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Trim41	A	G	11: 48,698,319 (GRCm39)	V549A	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Unc5b	T	C	10: 60,608,348 (GRCm39)	T621A	probably benign	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Vmn1r214	C	A	13: 23,219,494 (GRCm39)	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,072 (GRCm39)	K428*	probably null	Het
Vmn2r81	A	C	10: 79,129,328 (GRCm39)	I740L	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp735	A	T	11: 73,602,677 (GRCm39)	K540N	possibly damaging	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
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
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'- GGACTTCACCGTCTGTACAAAC -3'
(R):5'- CAGCCCTCCTGTCTAGATAGAAG -3'

Sequencing Primer
(F):5'- GTACAAACACGTCTCATCTTACCGTG -3'
(R):5'- CCTCCTGTCTAGATAGAAGTCTCAG -3'

Posted On

2014-07-14