Mutagenetix > Incidental Mutation

Incidental Mutation 'R5579:Osbpl1a'

438338

Institutional Source

Beutler Lab

Gene Symbol

Osbpl1a

Ensembl Gene

ENSMUSG00000044252

Gene Name

oxysterol binding protein-like 1A

Synonyms

LOC328902, G430090F17Rik

MMRRC Submission

043267-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12755314-12941841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12841192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 62 (A62E)

Ref Sequence

ENSEMBL: ENSMUSP00000120439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000117361] [ENSMUST00000118313] [ENSMUST00000119512] [ENSMUST00000121774] [ENSMUST00000121808] [ENSMUST00000121888] [ENSMUST00000124570] [ENSMUST00000143077] [ENSMUST00000155650]

AlphaFold

Q91XL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000074352
AA Change: A479E

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

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: A479E

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: ENSMUST00000117361

SMART Domains

Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118313

SMART Domains

Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119512
AA Change: A87E

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

SMART Domains

Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: A87E

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

probably benign
Transcript: ENSMUST00000121774

SMART Domains

Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	8	401	4e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121808

SMART Domains

Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121888

SMART Domains

Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124570

Predicted Effect

probably benign
Transcript: ENSMUST00000143077

SMART Domains

Protein: ENSMUSP00000122967
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	184	3.5e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154614

Predicted Effect

probably damaging
Transcript: ENSMUST00000155650
AA Change: A62E

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

SMART Domains

Protein: ENSMUSP00000120439
Gene: ENSMUSG00000044252
AA Change: A62E

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: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	T	C	3: 88,700,275 (GRCm38)	S345P	probably benign	Het
6430573F11Rik	T	C	8: 36,512,041 (GRCm38)	V266A	probably benign	Het
Abca3	G	T	17: 24,376,729 (GRCm38)	C352F	probably damaging	Het
Abce1	A	T	8: 79,700,586 (GRCm38)	I237N	possibly damaging	Het
Acrbp	A	G	6: 125,061,099 (GRCm38)	D421G	probably benign	Het
Adam8	T	A	7: 139,988,984 (GRCm38)	Y201F	probably benign	Het
Adgrf1	T	A	17: 43,311,064 (GRCm38)	C731S	probably damaging	Het
AF067063	T	A	13: 119,828,415 (GRCm38)	M82L	probably benign	Het
Akap8l	A	T	17: 32,321,942 (GRCm38)	I529N	probably damaging	Het
Akap9	G	A	5: 4,064,714 (GRCm38)	G114D	possibly damaging	Het
Alox12b	T	A	11: 69,162,932 (GRCm38)	D158E	probably benign	Het
Ankrd11	A	G	8: 122,884,231 (GRCm38)	S2639P	probably damaging	Het
Ankrd42	T	C	7: 92,590,182 (GRCm38)	Y466C	possibly damaging	Het
Apobr	T	C	7: 126,587,675 (GRCm38)	I786T	probably benign	Het
Arhgef12	C	T	9: 43,010,193 (GRCm38)	G329R	probably benign	Het
Btnl1	T	C	17: 34,381,552 (GRCm38)		probably null	Het
Ccdc174	A	G	6: 91,881,350 (GRCm38)		probably null	Het
Ccdc183	T	C	2: 25,615,422 (GRCm38)	D177G	possibly damaging	Het
Cd14	A	G	18: 36,726,235 (GRCm38)	Y56H	probably benign	Het
Cep162	G	A	9: 87,203,671 (GRCm38)	A1200V	probably benign	Het
Clic3	T	C	2: 25,458,307 (GRCm38)	L128P	probably damaging	Het
Cntnap5b	A	T	1: 100,383,395 (GRCm38)	R538*	probably null	Het
Cntnap5b	A	T	1: 100,383,399 (GRCm38)	Q539L	probably benign	Het
Coq7	A	T	7: 118,517,335 (GRCm38)	N214K	unknown	Het
Cramp1l	G	A	17: 24,973,113 (GRCm38)	H1018Y	possibly damaging	Het
Crtac1	T	A	19: 42,304,806 (GRCm38)	D288V	probably damaging	Het
Dab2ip	C	T	2: 35,715,327 (GRCm38)	R132*	probably null	Het
Dis3l	C	A	9: 64,330,835 (GRCm38)	C125F	probably benign	Het
Dnmt1	A	T	9: 20,920,205 (GRCm38)	V543D	probably damaging	Het
Dock9	A	T	14: 121,599,695 (GRCm38)	L67Q	probably damaging	Het
Ehbp1	A	T	11: 22,137,846 (GRCm38)	S413T	probably damaging	Het
Endov	A	G	11: 119,505,097 (GRCm38)	I158V	probably benign	Het
Epb41l4b	A	G	4: 57,064,802 (GRCm38)	V469A	possibly damaging	Het
Etf1	G	A	18: 34,913,601 (GRCm38)	P119S	probably damaging	Het
Fam135a	A	G	1: 24,029,727 (GRCm38)	L491P	possibly damaging	Het
Fancd2	A	T	6: 113,560,051 (GRCm38)		probably null	Het
Fank1	T	A	7: 133,869,329 (GRCm38)		probably null	Het
Fbxo18	A	G	2: 11,748,993 (GRCm38)	I846T	probably damaging	Het
Gas2l3	T	C	10: 89,414,066 (GRCm38)	T397A	probably benign	Het
Gga1	T	C	15: 78,893,188 (GRCm38)	V513A	probably damaging	Het
Ggt1	T	C	10: 75,585,948 (GRCm38)	V543A	probably damaging	Het
Gm11596	A	T	11: 99,792,891 (GRCm38)	C134*	probably null	Het
Gnal	C	T	18: 67,088,771 (GRCm38)	R82C	unknown	Het
Hat1	T	C	2: 71,410,238 (GRCm38)	V92A	possibly damaging	Het
Icosl	C	T	10: 78,073,763 (GRCm38)	R181C	probably damaging	Het
Ift46	A	G	9: 44,786,863 (GRCm38)	M208V	possibly damaging	Het
Ighv1-26	T	C	12: 114,788,599 (GRCm38)	K42E	possibly damaging	Het
Ipo5	A	G	14: 120,938,613 (GRCm38)	K617E	probably benign	Het
Irx5	A	G	8: 92,359,913 (GRCm38)	D208G	probably benign	Het
Itgal	T	G	7: 127,306,929 (GRCm38)	V397G	probably benign	Het
Itpr2	G	A	6: 146,173,366 (GRCm38)	R2297*	probably null	Het
Itpr3	A	G	17: 27,113,519 (GRCm38)	D1779G	probably damaging	Het
Krt4	T	A	15: 101,921,234 (GRCm38)	E286D	probably benign	Het
Loxl4	C	T	19: 42,604,290 (GRCm38)	G317E	probably damaging	Het
Mapk6	T	G	9: 75,388,062 (GRCm38)	H718P	possibly damaging	Het
Mark2	A	C	19: 7,282,816 (GRCm38)	V14G	probably damaging	Het
Mbd5	A	G	2: 49,272,814 (GRCm38)	T1103A	possibly damaging	Het
Mcph1	A	G	8: 18,632,293 (GRCm38)	E482G	probably benign	Het
Mme	G	A	3: 63,348,645 (GRCm38)	E509K	probably damaging	Het
Mrgbp	A	G	2: 180,585,483 (GRCm38)	T204A	probably damaging	Het
Mycbp2	A	T	14: 103,291,333 (GRCm38)	F430I	probably damaging	Het
Myo6	A	G	9: 80,217,720 (GRCm38)	D27G	probably damaging	Het
Ncoa6	A	G	2: 155,406,677 (GRCm38)	L1569S	probably damaging	Het
Ndc1	T	A	4: 107,380,704 (GRCm38)	F235Y	possibly damaging	Het
Nmur2	A	T	11: 56,033,009 (GRCm38)	S240T	probably benign	Het
Olfr1176	A	T	2: 88,340,413 (GRCm38)	I283F	possibly damaging	Het
Olfr301	T	A	7: 86,412,726 (GRCm38)	Y121*	probably null	Het
Olfr608	G	A	7: 103,470,914 (GRCm38)	V292M	probably damaging	Het
Otud4	C	T	8: 79,664,108 (GRCm38)	T417I	probably benign	Het
Pagr1a	T	C	7: 127,015,442 (GRCm38)	E197G	probably damaging	Het
Pcdh18	T	C	3: 49,744,977 (GRCm38)	Q1012R	probably damaging	Het
Pcdhgb5	A	C	18: 37,731,637 (GRCm38)	I162L	probably benign	Het
Pdpr	T	A	8: 111,123,816 (GRCm38)	Y462N	probably damaging	Het
Pkhd1	A	T	1: 20,523,142 (GRCm38)	H1582Q	probably damaging	Het
Polr1b	A	G	2: 129,110,108 (GRCm38)	K352R	probably damaging	Het
Poteg	G	A	8: 27,448,037 (GRCm38)	V12M	probably damaging	Het
Pou2f1	A	C	1: 165,915,162 (GRCm38)	V54G	probably damaging	Het
Ppme1	A	G	7: 100,344,975 (GRCm38)	L177P	probably damaging	Het
Prkce	A	G	17: 86,619,948 (GRCm38)	D550G	probably damaging	Het
Prrc2c	A	G	1: 162,680,758 (GRCm38)		probably null	Het
Ptpn22	A	G	3: 103,882,139 (GRCm38)		probably null	Het
Rabif	G	A	1: 134,506,205 (GRCm38)	V86M	probably damaging	Het
Rbm25	T	A	12: 83,668,507 (GRCm38)	M484K	probably benign	Het
Rcn2	G	A	9: 56,057,429 (GRCm38)	A224T	probably benign	Het
Rexo5	T	A	7: 119,834,403 (GRCm38)		probably null	Het
Rnase1	A	T	14: 51,145,762 (GRCm38)	I45N	probably benign	Het
Rnmt	T	A	18: 68,306,115 (GRCm38)	D98E	possibly damaging	Het
Rprd2	A	G	3: 95,785,059 (GRCm38)	F188L	probably damaging	Het
Scube2	G	A	7: 109,810,737 (GRCm38)	T643M	probably damaging	Het
Slc7a15	T	C	12: 8,539,344 (GRCm38)	I68V	probably benign	Het
Slco1a5	A	T	6: 142,242,125 (GRCm38)	V496D	possibly damaging	Het
Slitrk6	T	G	14: 110,751,217 (GRCm38)	S353R	possibly damaging	Het
Smpd5	T	A	15: 76,295,125 (GRCm38)	I53K	possibly damaging	Het
Tas2r108	T	C	6: 40,494,087 (GRCm38)	S166P	probably benign	Het
Tecpr1	C	A	5: 144,214,344 (GRCm38)	V245L	possibly damaging	Het
Tenm3	G	T	8: 48,236,764 (GRCm38)	N1929K	probably damaging	Het
Tigd5	T	G	15: 75,911,025 (GRCm38)	F412C	probably damaging	Het
Timm17a	A	T	1: 135,306,188 (GRCm38)	S74T	possibly damaging	Het
Tle1	A	T	4: 72,139,808 (GRCm38)	L60Q	probably damaging	Het
Tmem132d	T	C	5: 127,796,000 (GRCm38)	E515G	possibly damaging	Het
Tmem65	T	C	15: 58,794,397 (GRCm38)	N115S	probably benign	Het
Trmt5	C	A	12: 73,281,652 (GRCm38)	R259L	possibly damaging	Het
Ttc37	T	C	13: 76,185,200 (GRCm38)	W25R	probably damaging	Het
Vmn2r50	A	T	7: 10,050,089 (GRCm38)	W153R	probably benign	Het
Vwa3a	T	G	7: 120,768,173 (GRCm38)	S184A	probably benign	Het
Zbtb25	A	G	12: 76,349,164 (GRCm38)	L428P	possibly damaging	Het
Zbtb49	C	T	5: 38,200,816 (GRCm38)	D698N	probably damaging	Het
Zbtb8os	T	G	4: 129,340,735 (GRCm38)	D35E	probably damaging	Het
Zfp316	T	C	5: 143,264,491 (GRCm38)	T56A	unknown	Het
Zfp334	A	T	2: 165,380,487 (GRCm38)	C545*	probably null	Het
Zmiz1	C	A	14: 25,644,856 (GRCm38)	S247R	probably damaging	Het
Zscan18	A	G	7: 12,775,381 (GRCm38)		probably benign	Het
Zzef1	T	C	11: 72,900,637 (GRCm38)	V2189A	probably damaging	Het

Other mutations in Osbpl1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Osbpl1a	APN	18	12,757,626 (GRCm38)	missense	possibly damaging	0.51
IGL01062:Osbpl1a	APN	18	12,905,075 (GRCm38)	missense	probably benign
IGL01450:Osbpl1a	APN	18	12,871,095 (GRCm38)	missense	possibly damaging	0.88
IGL01531:Osbpl1a	APN	18	12,933,581 (GRCm38)	missense	probably damaging	1.00
IGL01548:Osbpl1a	APN	18	12,763,575 (GRCm38)	missense	probably damaging	1.00
IGL01606:Osbpl1a	APN	18	12,756,214 (GRCm38)	missense	possibly damaging	0.79
IGL01672:Osbpl1a	APN	18	12,766,824 (GRCm38)	missense	probably damaging	1.00
IGL02372:Osbpl1a	APN	18	12,841,313 (GRCm38)	nonsense	probably null
IGL02451:Osbpl1a	APN	18	12,914,493 (GRCm38)	splice site	probably benign
IGL02490:Osbpl1a	APN	18	12,882,284 (GRCm38)	unclassified	probably benign
IGL02884:Osbpl1a	APN	18	12,819,578 (GRCm38)	nonsense	probably null
R0084:Osbpl1a	UTSW	18	12,757,612 (GRCm38)	missense	probably benign	0.07
R0266:Osbpl1a	UTSW	18	12,871,163 (GRCm38)	splice site	probably null
R0565:Osbpl1a	UTSW	18	12,759,444 (GRCm38)	missense	probably damaging	1.00
R0605:Osbpl1a	UTSW	18	12,882,279 (GRCm38)	critical splice acceptor site	probably null
R0899:Osbpl1a	UTSW	18	12,757,690 (GRCm38)	missense	possibly damaging	0.70
R1330:Osbpl1a	UTSW	18	12,882,194 (GRCm38)	critical splice donor site	probably null
R1464:Osbpl1a	UTSW	18	12,914,558 (GRCm38)	missense	probably benign
R1464:Osbpl1a	UTSW	18	12,914,558 (GRCm38)	missense	probably benign
R1475:Osbpl1a	UTSW	18	12,757,680 (GRCm38)	missense	probably damaging	1.00
R1495:Osbpl1a	UTSW	18	12,758,839 (GRCm38)	missense	probably benign	0.08
R1734:Osbpl1a	UTSW	18	12,788,316 (GRCm38)	splice site	probably null
R1930:Osbpl1a	UTSW	18	12,905,194 (GRCm38)	missense	probably benign	0.04
R1931:Osbpl1a	UTSW	18	12,905,194 (GRCm38)	missense	probably benign	0.04
R2109:Osbpl1a	UTSW	18	12,759,400 (GRCm38)	missense	probably damaging	1.00
R2144:Osbpl1a	UTSW	18	12,871,173 (GRCm38)	missense	probably benign	0.06
R2504:Osbpl1a	UTSW	18	12,905,031 (GRCm38)	missense	probably benign	0.30
R2762:Osbpl1a	UTSW	18	12,766,899 (GRCm38)	missense	possibly damaging	0.83
R2907:Osbpl1a	UTSW	18	12,871,072 (GRCm38)	unclassified	probably benign
R4306:Osbpl1a	UTSW	18	12,819,595 (GRCm38)	missense	probably benign
R4835:Osbpl1a	UTSW	18	12,768,536 (GRCm38)	critical splice donor site	probably null
R5097:Osbpl1a	UTSW	18	12,763,537 (GRCm38)	missense	probably damaging	1.00
R5173:Osbpl1a	UTSW	18	12,762,640 (GRCm38)	missense	probably benign	0.12
R5224:Osbpl1a	UTSW	18	12,933,696 (GRCm38)	missense	probably benign	0.01
R5245:Osbpl1a	UTSW	18	12,758,853 (GRCm38)	missense	probably damaging	1.00
R5579:Osbpl1a	UTSW	18	12,892,262 (GRCm38)	missense	probably benign	0.22
R5833:Osbpl1a	UTSW	18	12,788,362 (GRCm38)	missense	probably damaging	1.00
R5986:Osbpl1a	UTSW	18	12,905,081 (GRCm38)	missense	probably damaging	1.00
R6267:Osbpl1a	UTSW	18	12,819,503 (GRCm38)	critical splice donor site	probably null
R6296:Osbpl1a	UTSW	18	12,819,503 (GRCm38)	critical splice donor site	probably null
R6477:Osbpl1a	UTSW	18	12,756,261 (GRCm38)	missense	probably benign	0.03
R6997:Osbpl1a	UTSW	18	12,756,224 (GRCm38)	missense	probably benign	0.05
R7105:Osbpl1a	UTSW	18	12,766,963 (GRCm38)	missense	probably benign	0.17
R7107:Osbpl1a	UTSW	18	12,841,253 (GRCm38)	nonsense	probably null
R7154:Osbpl1a	UTSW	18	12,768,592 (GRCm38)	missense	probably benign	0.00
R7459:Osbpl1a	UTSW	18	12,933,585 (GRCm38)	missense	probably damaging	1.00
R7757:Osbpl1a	UTSW	18	12,933,600 (GRCm38)	missense	probably benign	0.44
R7797:Osbpl1a	UTSW	18	12,882,264 (GRCm38)	missense	probably damaging	0.99
R8029:Osbpl1a	UTSW	18	12,914,521 (GRCm38)	missense	probably benign	0.01
R8084:Osbpl1a	UTSW	18	12,905,042 (GRCm38)	missense	probably damaging	1.00
R8506:Osbpl1a	UTSW	18	12,768,586 (GRCm38)	missense	probably benign	0.02
R8947:Osbpl1a	UTSW	18	12,766,801 (GRCm38)	critical splice donor site	probably null
R9069:Osbpl1a	UTSW	18	12,869,017 (GRCm38)	intron	probably benign
R9085:Osbpl1a	UTSW	18	12,929,036 (GRCm38)	missense	probably damaging	1.00
R9288:Osbpl1a	UTSW	18	12,771,345 (GRCm38)	missense	probably damaging	1.00
R9443:Osbpl1a	UTSW	18	12,898,187 (GRCm38)	missense	probably benign	0.00
R9517:Osbpl1a	UTSW	18	12,909,908 (GRCm38)	missense	probably benign
R9600:Osbpl1a	UTSW	18	12,882,220 (GRCm38)	missense	probably benign	0.00
R9658:Osbpl1a	UTSW	18	12,756,212 (GRCm38)	missense	probably benign	0.05
R9694:Osbpl1a	UTSW	18	12,819,508 (GRCm38)	missense	probably benign	0.03
X0027:Osbpl1a	UTSW	18	12,759,503 (GRCm38)	missense	possibly damaging	0.46
Z1177:Osbpl1a	UTSW	18	12,906,923 (GRCm38)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GATGTGCACATACACCCAGGTG -3'
(R):5'- AGAAAGGCTGTATTTCCTGCC -3'

Sequencing Primer
(F):5'- GTGCACACATACACCCAGATG -3'
(R):5'- GCCACTCTGAACTCTTGTATATCTG -3'

Posted On

2016-10-26