Mutagenetix > Incidental Mutations

Incidental Mutation 'R1623:Hdlbp'

174744

Institutional Source

Beutler Lab

Gene Symbol

Hdlbp

Ensembl Gene

ENSMUSG00000034088

Gene Name

high density lipoprotein (HDL) binding protein

Synonyms

1110005P14Rik, D1Ertd101e

MMRRC Submission

039660-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R1623 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93405940-93478815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93423869 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 437 (N437K)

Ref Sequence

ENSEMBL: ENSMUSP00000139671 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042498
AA Change: N506K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: N506K

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: N506K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: N506K

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: N437K

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

SMART Domains

Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088
AA Change: N437K

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

1x: 99.0%
3x: 98.0%
10x: 94.9%
20x: 87.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	G	A	17: 25,947,534	P343L	probably benign	Het
Acbd5	A	T	2: 23,094,344	D294V	probably damaging	Het
Actn2	A	T	13: 12,340,439	I21N	probably benign	Het
Adamts2	C	A	11: 50,668,115	P219H	possibly damaging	Het
Atg16l2	A	G	7: 101,289,906	F584L	probably benign	Het
Ccdc81	C	T	7: 89,886,182	R282Q	probably benign	Het
Cd200r3	G	A	16: 44,951,448	C25Y	possibly damaging	Het
Cdkl4	C	T	17: 80,556,302		probably null	Het
Chrne	T	C	11: 70,618,428	E109G	possibly damaging	Het
Clmp	A	G	9: 40,782,560	T358A	probably benign	Het
Cmtr1	G	T	17: 29,687,047		probably null	Het
Col25a1	A	G	3: 130,550,050	E389G	probably damaging	Het
Ctc1	C	T	11: 69,021,142	T49M	probably damaging	Het
Cyth3	T	A	5: 143,701,372	M120K	probably damaging	Het
D430041D05Rik	T	A	2: 104,152,963	E1996V	probably damaging	Het
Dnah9	T	C	11: 66,037,637	M2069V	probably damaging	Het
Dsg1c	T	C	18: 20,275,177	Y428H	probably damaging	Het
Exosc8	T	A	3: 54,734,331	T7S	probably damaging	Het
F5	A	G	1: 164,195,622	Y1583C	probably damaging	Het
Fam178b	A	G	1: 36,644,324	I105T	probably damaging	Het
Fam181a	T	A	12: 103,316,332	Y165*	probably null	Het
Fam212b	G	A	3: 105,716,820	G151D	probably damaging	Het
Fbn2	G	T	18: 58,048,548	N1880K	possibly damaging	Het
Gbgt1	A	T	2: 28,504,976	M209L	probably benign	Het
Gkn2	C	A	6: 87,378,170	Y120*	probably null	Het
Gm14295	T	A	2: 176,807,364	D1E	probably damaging	Het
Gpr141	A	T	13: 19,751,912		probably null	Het
Gramd3	C	A	18: 56,432,351	P26Q	probably benign	Het
Greb1	A	G	12: 16,674,770	I1801T	probably damaging	Het
Gstm3	T	A	3: 107,967,835	I64F	possibly damaging	Het
Gtse1	A	G	15: 85,867,578	Y324C	probably benign	Het
Hal	C	G	10: 93,516,297	T650R	probably benign	Het
Hdac7	G	A	15: 97,808,404	Q293*	probably null	Het
Hif1an	A	G	19: 44,569,423	D248G	probably damaging	Het
Hivep3	T	C	4: 120,095,704	S406P	possibly damaging	Het
Hmcn2	A	T	2: 31,458,039	D4899V	possibly damaging	Het
Ikzf3	C	T	11: 98,490,331		probably null	Het
Itgb4	C	A	11: 115,991,316	Y819*	probably null	Het
Itpripl1	T	C	2: 127,141,635	D189G	possibly damaging	Het
Kmt2e	A	G	5: 23,482,502	Y450C	probably damaging	Het
Mc4r	A	G	18: 66,859,997	L15P	probably benign	Het
Mical1	T	G	10: 41,481,393		probably null	Het
Mical3	C	T	6: 121,024,807	V575M	probably damaging	Het
Mki67	A	T	7: 135,708,818		probably null	Het
Mocs2	G	A	13: 114,824,622	E52K	probably benign	Het
Myo7b	T	C	18: 32,000,051	N415S	probably damaging	Het
Notch1	G	A	2: 26,478,612	T555I	possibly damaging	Het
Notch3	T	C	17: 32,139,191	D1686G	probably benign	Het
Oit3	A	G	10: 59,428,239	F358L	probably damaging	Het
Olfr417	A	C	1: 174,368,949	I11L	probably benign	Het
Olfr424	A	T	1: 174,137,317	D191V	probably damaging	Het
Orai1	T	A	5: 123,029,202	I146N	probably damaging	Het
Pck1	A	G	2: 173,154,718	I142V	probably benign	Het
Pdap1	C	T	5: 145,132,929	V89M	possibly damaging	Het
Phf11a	T	C	14: 59,287,551	D68G	possibly damaging	Het
Pilrb2	T	C	5: 137,871,248	N30S	probably damaging	Het
Pkd1	G	A	17: 24,578,269	V2551I	probably damaging	Het
Pnpla7	T	C	2: 25,052,599	V132A	probably damaging	Het
Rad18	C	T	6: 112,628,519	S398N	probably damaging	Het
Rdh16f1	C	A	10: 127,790,853	N258K	probably benign	Het
Riox2	A	G	16: 59,483,042	H240R	probably damaging	Het
Ruvbl1	C	T	6: 88,485,770	A292V	probably damaging	Het
Ryr1	C	T	7: 29,095,490	G1151S	probably damaging	Het
Serpinb9b	T	C	13: 33,029,565	I35T	possibly damaging	Het
Slc1a1	T	A	19: 28,904,722	M328K	probably benign	Het
Slc7a13	A	T	4: 19,824,031	T267S	possibly damaging	Het
Speer3	G	T	5: 13,796,321	M218I	probably benign	Het
Sptan1	A	G	2: 29,986,420	I271V	probably damaging	Het
Swap70	A	G	7: 110,264,048	T195A	probably benign	Het
Tgs1	T	A	4: 3,585,964	N280K	probably benign	Het
Tonsl	A	G	15: 76,638,509	C181R	probably damaging	Het
Trdn	A	G	10: 33,258,102	K333R	possibly damaging	Het
Trpc4	T	A	3: 54,299,179	M600K	probably damaging	Het
Ubr3	C	T	2: 69,977,723	Q1183*	probably null	Het
Ubxn4	T	A	1: 128,272,851	L360I	possibly damaging	Het
Ugt2b1	T	A	5: 86,926,408	T31S	probably benign	Het
Uspl1	T	C	5: 149,215,199	S1056P	probably damaging	Het
Vmn2r60	A	T	7: 42,135,855	K164*	probably null	Het
Vwce	T	A	19: 10,646,744	L333*	probably null	Het
Wdr95	T	A	5: 149,574,116	L253Q	probably damaging	Het
Wisp1	G	T	15: 66,891,599	V12L	possibly damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp142	T	C	1: 74,571,775	T851A	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGAAGTTGTTTCCAAAGCATGATCC -3'
(R):5'- AATGACTGAAGAGCCCTGCAATCC -3'

Sequencing Primer
(F):5'- ATCCATATACTAGCTGTGGTATGCG -3'
(R):5'- CTGTACTATGTTCAGGAAAATAGCAC -3'

Posted On

2014-04-24