Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02452:Hdlbp'

293690

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: 0.927) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

93405940-93478815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93417511 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 714 (V714D)

Ref Sequence

ENSEMBL: ENSMUSP00000139671 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042498
AA Change: V783D

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

SMART Domains

Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: V783D

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: V783D

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

SMART Domains

Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: V783D

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: V714D

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

SMART Domains

Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088
AA Change: V714D

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,941,970	V11F	probably damaging	Het
Alk	A	T	17: 71,902,625	Y941*	probably null	Het
Armc4	C	T	18: 7,129,461	E906K	probably damaging	Het
Blm	A	T	7: 80,503,377		probably null	Het
Blvrb	T	C	7: 27,459,340	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,317,942	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 66,007,785	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,792,626	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,811,446	S131T	probably benign	Het
Dupd1	G	A	14: 21,702,922	T52I	probably damaging	Het
Dzip3	T	A	16: 48,938,537		probably benign	Het
Espl1	T	C	15: 102,299,839	S427P	probably damaging	Het
Fasn	A	T	11: 120,808,180	D2424E	probably benign	Het
Flrt2	G	A	12: 95,779,483	M198I	probably benign	Het
Gen1	A	T	12: 11,242,575	S404R	probably benign	Het
Gm11596	A	T	11: 99,792,980	C105S	unknown	Het
Gm8765	A	T	13: 50,703,077	H917L	probably damaging	Het
Igkv4-80	A	G	6: 69,016,832	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,171,941	W76*	probably null	Het
Ikzf1	T	C	11: 11,748,545	L132P	probably damaging	Het
Kcna6	C	A	6: 126,738,480	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,841,842	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,474,002	D175E	probably damaging	Het
Lrrtm3	T	C	10: 64,088,036	K451E	probably damaging	Het
Mcm9	C	T	10: 53,541,557	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492	S475R	probably benign	Het
Mmp24	C	T	2: 155,815,788	R533C	probably damaging	Het
Moxd1	C	T	10: 24,282,752	P435S	probably damaging	Het
Mta2	T	A	19: 8,950,306	I497N	probably benign	Het
Mtus2	T	C	5: 148,077,663	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,656,426	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,620,924		probably null	Het
Nid1	A	T	13: 13,508,720	T1128S	probably benign	Het
Olfr583	A	G	7: 103,051,931	D211G	probably benign	Het
Pcdh12	G	A	18: 38,281,693	P793L	probably benign	Het
Pclo	A	T	5: 14,676,966		probably benign	Het
Prpf31	T	A	7: 3,634,186	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,649,085	N656K	probably benign	Het
Ptprn	T	A	1: 75,258,169	H258L	probably benign	Het
Rab19	A	G	6: 39,389,798	T216A	probably benign	Het
Ryr3	A	C	2: 112,833,990	L1652W	probably damaging	Het
Six2	A	C	17: 85,685,378	S232R	possibly damaging	Het
Spag17	T	C	3: 100,027,391	V663A	probably benign	Het
Spag5	A	G	11: 78,304,623	N252S	probably benign	Het
Sptb	C	T	12: 76,609,036		probably null	Het
Synj1	A	G	16: 90,961,365		probably benign	Het
Tekt2	T	C	4: 126,324,852	H36R	possibly damaging	Het
Tjp1	A	T	7: 65,312,655	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,674,795	*502Q	probably null	Het

Other mutations in Hdlbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Hdlbp	APN	1	93430169	missense	probably benign	0.00
IGL01321:Hdlbp	APN	1	93423802	missense	probably damaging	1.00
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
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

2015-04-16