Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01321:Hdlbp'

74032

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hdlbp

Ensembl Gene

ENSMUSG00000034088

Gene Name

high density lipoprotein (HDL) binding protein

Synonyms

1110005P14Rik, D1Ertd101e

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.914) question?

Stock #

IGL01321

Quality Score

Status

Chromosome

Chromosomal Location

93405940-93478815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93423802 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 460 (R460W)

Ref Sequence

ENSEMBL: ENSMUSP00000139671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042498] [ENSMUST00000170883] [ENSMUST00000186164]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042498
AA Change: R529W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: R529W

Domain	Start	End	E-Value	Type
KH	149	217	1.97e-15	SMART
KH	221	289	1.8e-9	SMART
KH	294	362	1.73e-11	SMART
KH	363	429	2.66e-12	SMART
KH	434	502	9.18e-16	SMART
KH	506	575	7.52e-12	SMART
KH	580	648	7.68e-18	SMART
KH	652	721	3.24e-16	SMART
KH	726	795	1.33e-12	SMART
KH	799	868	2.48e-12	SMART
KH	872	972	3.03e-16	SMART
KH	973	1039	4.56e-11	SMART
KH	1051	1122	3.67e-15	SMART
KH	1126	1195	3.37e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000096427

SMART Domains

Protein: ENSMUSP00000126949
Gene: ENSMUSG00000090489

Domain	Start	End	E-Value	Type
low complexity region	7	30	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	124	218	8.2e-25	PFAM
low complexity region	253	264	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170883
AA Change: R529W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: R529W

Domain	Start	End	E-Value	Type
KH	149	217	1.97e-15	SMART
KH	221	289	1.8e-9	SMART
KH	294	362	1.73e-11	SMART
KH	363	429	2.66e-12	SMART
KH	434	502	9.18e-16	SMART
KH	506	575	7.52e-12	SMART
KH	580	648	7.68e-18	SMART
KH	652	721	3.24e-16	SMART
KH	726	795	1.33e-12	SMART
KH	799	868	2.48e-12	SMART
KH	872	972	3.03e-16	SMART
KH	973	1039	4.56e-11	SMART
KH	1051	1122	3.67e-15	SMART
KH	1126	1195	3.37e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186164
AA Change: R460W

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

SMART Domains

Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088
AA Change: R460W

Domain	Start	End	E-Value	Type
KH	149	217	1.2e-17	SMART
KH	221	289	1.1e-11	SMART
KH	294	360	1.6e-14	SMART
KH	365	433	5.7e-18	SMART
KH	437	506	4.6e-14	SMART
KH	511	579	4.7e-20	SMART
KH	583	652	2e-18	SMART
KH	657	726	7.9e-15	SMART
KH	730	799	1.5e-14	SMART
KH	803	903	1.8e-18	SMART
KH	904	970	2.8e-13	SMART
KH	982	1053	2.2e-17	SMART
KH	1057	1126	2e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189951

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,843	V76D	probably damaging	Het
Acnat2	A	G	4: 49,380,269	S370P	probably damaging	Het
Adamts5	T	C	16: 85,899,475	R265G	probably benign	Het
Cd2ap	T	C	17: 42,845,389	S86G	possibly damaging	Het
Cers3	A	C	7: 66,786,003		probably benign	Het
Dnaaf2	G	T	12: 69,196,602	P562T	probably damaging	Het
Dnajc21	A	C	15: 10,447,102	V520G	probably benign	Het
Dpcr1	A	T	17: 35,636,866	N490K	probably damaging	Het
Dync1h1	A	G	12: 110,625,607		probably benign	Het
Extl3	T	C	14: 65,066,762	N733D	probably benign	Het
Gm5499	T	A	17: 87,078,500		noncoding transcript	Het
Gstm6	T	C	3: 107,941,063	Q180R	probably benign	Het
Ift81	T	C	5: 122,610,968	D40G	probably damaging	Het
Igsf3	T	A	3: 101,427,022		probably benign	Het
Kcnb2	A	G	1: 15,312,923	T158A	probably benign	Het
Lrrc59	C	T	11: 94,638,600	R167*	probably null	Het
Macf1	A	G	4: 123,440,774	C4397R	probably damaging	Het
Morc1	T	C	16: 48,582,462	S583P	probably benign	Het
Nipsnap2	T	A	5: 129,757,141	*282R	probably null	Het
Olfr1160	A	T	2: 88,006,245	C178S	probably damaging	Het
Olfr703	T	C	7: 106,844,749	L46P	probably damaging	Het
Parp14	T	A	16: 35,856,559	Q1013L	probably benign	Het
Pdzd8	A	C	19: 59,301,529	S480A	probably benign	Het
Piezo1	A	T	8: 122,487,600	S1609R	probably damaging	Het
Pkp4	G	A	2: 59,350,627		probably null	Het
Plpp2	A	T	10: 79,527,493	V106D	probably damaging	Het
Rimbp2	T	C	5: 128,786,752	Y724C	probably benign	Het
Rpgrip1l	A	T	8: 91,260,873	L852*	probably null	Het
Samd9l	T	A	6: 3,376,259	D334V	probably benign	Het
Sipa1l2	G	A	8: 125,491,518	T360M	probably damaging	Het
Slc30a2	A	T	4: 134,343,300	D5V	probably damaging	Het
Spata31	T	C	13: 64,921,754	I572T	probably benign	Het
Tma16	G	A	8: 66,476,860	L161F	probably benign	Het
Trim69	A	T	2: 122,173,284	E238V	possibly damaging	Het
Zfhx4	A	G	3: 5,242,328	T205A	probably benign	Het

Other mutations in Hdlbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Hdlbp	APN	1	93430169	missense	probably benign	0.00
IGL01387:Hdlbp	APN	1	93413588	missense	possibly damaging	0.91
IGL01443:Hdlbp	APN	1	93431074	missense	probably damaging	0.99
IGL01467:Hdlbp	APN	1	93417698	splice site	probably benign
IGL02223:Hdlbp	APN	1	93412449	missense	probably damaging	1.00
IGL02274:Hdlbp	APN	1	93408507	splice site	probably null
IGL02452:Hdlbp	APN	1	93417511	missense	probably damaging	1.00
IGL03079:Hdlbp	APN	1	93413940	splice site	probably benign
IGL03169:Hdlbp	APN	1	93416587	missense	possibly damaging	0.92
IGL03229:Hdlbp	APN	1	93430187	missense	probably benign	0.00
R0119:Hdlbp	UTSW	1	93421337	splice site	probably benign
R0432:Hdlbp	UTSW	1	93425332	missense	probably damaging	1.00
R0508:Hdlbp	UTSW	1	93414811	critical splice donor site	probably null
R0530:Hdlbp	UTSW	1	93430317	unclassified	probably benign
R1276:Hdlbp	UTSW	1	93421101	missense	probably benign	0.12
R1302:Hdlbp	UTSW	1	93423385	splice site	probably null
R1331:Hdlbp	UTSW	1	93421131	missense	probably damaging	1.00
R1537:Hdlbp	UTSW	1	93417374	missense	probably benign	0.01
R1623:Hdlbp	UTSW	1	93423869	missense	probably damaging	1.00
R1695:Hdlbp	UTSW	1	93437200	missense	probably damaging	1.00
R1897:Hdlbp	UTSW	1	93422285	intron	probably benign
R1900:Hdlbp	UTSW	1	93422237	intron	probably benign
R1984:Hdlbp	UTSW	1	93431118	missense	probably damaging	0.98
R1985:Hdlbp	UTSW	1	93431118	missense	probably damaging	0.98
R2066:Hdlbp	UTSW	1	93421880	intron	probably benign
R2277:Hdlbp	UTSW	1	93408178	nonsense	probably null
R2349:Hdlbp	UTSW	1	93422234	intron	probably benign
R3434:Hdlbp	UTSW	1	93428161	missense	probably benign	0.04
R3978:Hdlbp	UTSW	1	93421351	missense	probably damaging	1.00
R4645:Hdlbp	UTSW	1	93422120	intron	probably benign
R5196:Hdlbp	UTSW	1	93420193	missense	probably damaging	1.00
R5760:Hdlbp	UTSW	1	93440777	intron	probably benign
R6327:Hdlbp	UTSW	1	93429464	missense	possibly damaging	0.87
R6420:Hdlbp	UTSW	1	93431004	missense	probably damaging	1.00
R6428:Hdlbp	UTSW	1	93431445	missense	possibly damaging	0.91
R6468:Hdlbp	UTSW	1	93417667	missense	possibly damaging	0.48
R6488:Hdlbp	UTSW	1	93428224	missense	probably damaging	1.00
R6592:Hdlbp	UTSW	1	93412361	critical splice donor site	probably null
R6920:Hdlbp	UTSW	1	93412361	critical splice donor site	probably null
R7156:Hdlbp	UTSW	1	93413915	missense	probably damaging	1.00
R7391:Hdlbp	UTSW	1	93431061	missense	possibly damaging	0.93
R7457:Hdlbp	UTSW	1	93428222	missense	probably benign	0.04
R7498:Hdlbp	UTSW	1	93413615	missense	probably benign	0.00
R7554:Hdlbp	UTSW	1	93437309	missense	probably damaging	0.96
R7593:Hdlbp	UTSW	1	93430283	missense	probably benign	0.01
R7672:Hdlbp	UTSW	1	93437099	missense	possibly damaging	0.90
R7801:Hdlbp	UTSW	1	93430307	splice site	probably null
R7904:Hdlbp	UTSW	1	93423370	missense	probably damaging	1.00
R8062:Hdlbp	UTSW	1	93438342	missense	probably benign	0.10
R8113:Hdlbp	UTSW	1	93417195	missense	probably damaging	0.98
R8557:Hdlbp	UTSW	1	93413497	missense	probably damaging	0.96
RF020:Hdlbp	UTSW	1	93440734	missense	probably benign
Z1088:Hdlbp	UTSW	1	93431354	start gained	probably benign

Posted On

2013-10-07