Mutagenetix > Incidental Mutation

Incidental Mutation 'R1900:Hdlbp'

269767

Institutional Source

Beutler Lab

Gene Symbol

Hdlbp

Ensembl Gene

ENSMUSG00000034088

Gene Name

high density lipoprotein (HDL) binding protein

Synonyms

1110005P14Rik, D1Ertd101e

MMRRC Submission

039920-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R1900 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

93333662-93406537 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 93349959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139671 (fasta)

Gene Model

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

AlphaFold

Q8VDJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000042498

SMART Domains

Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088

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 benign
Transcript: ENSMUST00000170883

SMART Domains

Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088

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 benign
Transcript: ENSMUST00000186164

SMART Domains

Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088

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

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

96% (100/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	C	2: 32,630,559 (GRCm39)		probably benign	Het
Ago4	T	C	4: 126,410,729 (GRCm39)	I221V	probably benign	Het
Ankfy1	C	T	11: 72,645,233 (GRCm39)	Q771*	probably null	Het
Ankrd50	T	C	3: 38,509,536 (GRCm39)	T944A	probably damaging	Het
Armh4	T	C	14: 50,008,040 (GRCm39)	T478A	probably damaging	Het
AU040320	A	C	4: 126,747,073 (GRCm39)		probably null	Het
Axdnd1	A	G	1: 156,208,344 (GRCm39)		probably null	Het
Cdadc1	A	T	14: 59,823,981 (GRCm39)	D170E	probably damaging	Het
Cep164	C	A	9: 45,721,123 (GRCm39)	R93L	probably damaging	Het
Cep250	T	C	2: 155,827,294 (GRCm39)		probably null	Het
Cfdp1	G	A	8: 112,495,361 (GRCm39)	R286*	probably null	Het
Chrdl2	A	G	7: 99,682,871 (GRCm39)	I377V	possibly damaging	Het
Cntrob	A	T	11: 69,198,880 (GRCm39)	S623T	probably benign	Het
Col6a5	C	T	9: 105,808,412 (GRCm39)	G879S	unknown	Het
Cyp2c38	T	A	19: 39,426,756 (GRCm39)	I182F	probably benign	Het
Dennd4a	T	C	9: 64,804,618 (GRCm39)	V1319A	probably damaging	Het
Dysf	T	G	6: 84,016,549 (GRCm39)	V70G	probably damaging	Het
Edn3	A	G	2: 174,603,398 (GRCm39)	T49A	possibly damaging	Het
Elac1	C	G	18: 73,872,316 (GRCm39)	L226F	probably damaging	Het
Eps8l3	A	G	3: 107,798,268 (GRCm39)	D445G	probably benign	Het
Fgf11	G	T	11: 69,692,279 (GRCm39)	T58K	probably benign	Het
Fstl5	T	A	3: 76,615,467 (GRCm39)	W843R	probably damaging	Het
Fyb2	A	G	4: 104,802,652 (GRCm39)	R185G	probably benign	Het
Gal3st2c	G	A	1: 93,936,766 (GRCm39)	R237H	probably damaging	Het
Galnt15	G	T	14: 31,771,822 (GRCm39)	R289L	probably damaging	Het
Garin4	T	A	1: 190,896,631 (GRCm39)	K4M	possibly damaging	Het
Gdf5	T	A	2: 155,784,001 (GRCm39)	D317V	probably damaging	Het
Gm7808	A	G	9: 19,839,410 (GRCm39)		probably benign	Het
Hcn3	T	C	3: 89,055,570 (GRCm39)	E559G	probably benign	Het
Hhip	T	C	8: 80,701,675 (GRCm39)	T620A	probably benign	Het
Hs3st3a1	T	C	11: 64,411,268 (GRCm39)	S269P	probably damaging	Het
Il17ra	A	T	6: 120,454,355 (GRCm39)		probably null	Het
Kif2a	T	C	13: 107,113,503 (GRCm39)	N417S	possibly damaging	Het
Klhl41	T	A	2: 69,504,963 (GRCm39)		probably benign	Het
L3mbtl4	G	T	17: 68,766,800 (GRCm39)	C169F	probably damaging	Het
Lap3	T	C	5: 45,669,252 (GRCm39)	F467S	probably damaging	Het
Lpar6	A	T	14: 73,476,579 (GRCm39)	Y180F	probably benign	Het
Lrig3	T	C	10: 125,838,262 (GRCm39)		probably benign	Het
Ltbp2	A	T	12: 84,877,432 (GRCm39)	S378T	probably damaging	Het
Ltf	T	C	9: 110,851,913 (GRCm39)	F117L	possibly damaging	Het
Med16	T	C	10: 79,734,765 (GRCm39)	E533G	probably damaging	Het
Meltf	T	C	16: 31,700,787 (GRCm39)		probably null	Het
Mphosph10	C	T	7: 64,030,776 (GRCm39)	E488K	possibly damaging	Het
Mroh1	A	G	15: 76,317,585 (GRCm39)	T812A	probably benign	Het
Mto1	T	C	9: 78,368,799 (GRCm39)		probably benign	Het
Ndst1	A	T	18: 60,845,793 (GRCm39)		probably null	Het
Ndst4	T	A	3: 125,491,544 (GRCm39)		probably null	Het
Nhlh1	A	T	1: 171,881,608 (GRCm39)	I86N	probably damaging	Het
Nme9	A	C	9: 99,341,827 (GRCm39)	D59A	probably damaging	Het
Nox4	A	T	7: 87,010,004 (GRCm39)	R402*	probably null	Het
Npr1	T	C	3: 90,369,495 (GRCm39)	D410G	probably damaging	Het
Nrip1	T	A	16: 76,088,927 (GRCm39)	T877S	probably benign	Het
Nsd2	A	G	5: 34,003,513 (GRCm39)	N221S	probably benign	Het
Ophn1	A	T	X: 97,769,665 (GRCm39)	Y181*	probably null	Het
Or13a28	A	T	7: 140,218,505 (GRCm39)	D297V	probably damaging	Het
Or1e17	C	A	11: 73,831,486 (GRCm39)	P138Q	possibly damaging	Het
Or4c123	T	C	2: 89,127,014 (GRCm39)	N200S	probably damaging	Het
Or51ac3	A	T	7: 103,213,814 (GRCm39)	L224*	probably null	Het
Or51f5	A	T	7: 102,424,538 (GRCm39)	H269L	probably benign	Het
Or5b109	T	A	19: 13,212,277 (GRCm39)	I221K	possibly damaging	Het
Or8c10	A	T	9: 38,279,360 (GRCm39)	I173L	probably benign	Het
Parp1	A	G	1: 180,424,904 (GRCm39)	K819R	probably damaging	Het
Parp9	T	C	16: 35,792,591 (GRCm39)	S829P	probably benign	Het
Pde6c	T	A	19: 38,150,388 (GRCm39)	F511Y	probably damaging	Het
Per3	G	T	4: 151,125,883 (GRCm39)	H145Q	probably damaging	Het
Pglyrp1	C	T	7: 18,624,151 (GRCm39)	R145W	probably damaging	Het
Piezo1	T	C	8: 123,209,384 (GRCm39)		probably benign	Het
Plb1	T	C	5: 32,444,191 (GRCm39)	I312T	probably benign	Het
Plin3	T	A	17: 56,586,824 (GRCm39)	T408S	possibly damaging	Het
Polr2a	A	T	11: 69,634,772 (GRCm39)	I636N	probably damaging	Het
Pramel51	A	C	12: 88,144,030 (GRCm39)	L261R	probably benign	Het
Prb1b	A	T	6: 132,291,661 (GRCm39)	L11Q	unknown	Het
Prex2	G	T	1: 11,232,590 (GRCm39)	E886*	probably null	Het
Proca1	A	T	11: 78,095,847 (GRCm39)	I73F	probably damaging	Het
Ptpn6	A	G	6: 124,705,896 (GRCm39)	S83P	probably benign	Het
Rtp1	G	T	16: 23,248,049 (GRCm39)	V41L	probably benign	Het
Scn4a	A	G	11: 106,218,359 (GRCm39)	I1035T	probably damaging	Het
Sell	A	T	1: 163,892,907 (GRCm39)	Y41F	probably damaging	Het
Serping1	C	T	2: 84,601,793 (GRCm39)	V226M	probably damaging	Het
Sf3b1	A	T	1: 55,037,347 (GRCm39)	D856E	possibly damaging	Het
Sfmbt1	T	A	14: 30,524,524 (GRCm39)	Y503N	probably damaging	Het
Slc16a1	T	A	3: 104,560,880 (GRCm39)	V395D	probably damaging	Het
Slc22a7	A	T	17: 46,749,157 (GRCm39)	D53E	probably benign	Het
Slc35b3	A	G	13: 39,144,587 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,815 (GRCm39)	M274T	possibly damaging	Het
Slco1a5	A	G	6: 142,187,789 (GRCm39)	S517P	probably benign	Het
Smo	A	G	6: 29,736,055 (GRCm39)	R16G	unknown	Het
Srebf1	A	G	11: 60,094,312 (GRCm39)	L601P	probably damaging	Het
Sspo	A	G	6: 48,436,284 (GRCm39)	I1086M	probably benign	Het
Tas2r106	A	T	6: 131,655,373 (GRCm39)	N159K	probably damaging	Het
Thsd1	G	A	8: 22,742,334 (GRCm39)		probably benign	Het
Tmeff1	T	C	4: 48,658,938 (GRCm39)		probably benign	Het
Tmem140	G	A	6: 34,849,838 (GRCm39)	C118Y	possibly damaging	Het
Tmem168	A	G	6: 13,583,070 (GRCm39)	C220R	probably benign	Het
Tox2	A	T	2: 163,118,087 (GRCm39)	N129Y	probably damaging	Het
Trappc12	C	T	12: 28,796,984 (GRCm39)	E183K	probably damaging	Het
Unc50	A	G	1: 37,477,880 (GRCm39)	Y254C	probably damaging	Het
Unk	T	G	11: 115,949,907 (GRCm39)	D691E	probably benign	Het
Uox	T	A	3: 146,316,134 (GRCm39)	V23D	probably damaging	Het
Vps13d	A	G	4: 144,853,176 (GRCm39)	C2313R	probably benign	Het
Zfp804b	T	A	5: 6,819,283 (GRCm39)	H1260L	probably damaging	Het
Zfyve26	A	G	12: 79,311,125 (GRCm39)	L147P	probably damaging	Het
Zmynd10	A	T	9: 107,427,236 (GRCm39)	Q288L	probably benign	Het
Zzef1	T	A	11: 72,739,540 (GRCm39)	D662E	probably damaging	Het

Other mutations in Hdlbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Hdlbp	APN	1	93,357,891 (GRCm39)	missense	probably benign	0.00
IGL01321:Hdlbp	APN	1	93,351,524 (GRCm39)	missense	probably damaging	1.00
IGL01387:Hdlbp	APN	1	93,341,310 (GRCm39)	missense	possibly damaging	0.91
IGL01443:Hdlbp	APN	1	93,358,796 (GRCm39)	missense	probably damaging	0.99
IGL01467:Hdlbp	APN	1	93,345,420 (GRCm39)	splice site	probably benign
IGL02223:Hdlbp	APN	1	93,340,171 (GRCm39)	missense	probably damaging	1.00
IGL02274:Hdlbp	APN	1	93,336,229 (GRCm39)	splice site	probably null
IGL02452:Hdlbp	APN	1	93,345,233 (GRCm39)	missense	probably damaging	1.00
IGL03079:Hdlbp	APN	1	93,341,662 (GRCm39)	splice site	probably benign
IGL03169:Hdlbp	APN	1	93,344,309 (GRCm39)	missense	possibly damaging	0.92
IGL03229:Hdlbp	APN	1	93,357,909 (GRCm39)	missense	probably benign	0.00
R0119:Hdlbp	UTSW	1	93,349,059 (GRCm39)	splice site	probably benign
R0432:Hdlbp	UTSW	1	93,353,054 (GRCm39)	missense	probably damaging	1.00
R0508:Hdlbp	UTSW	1	93,342,533 (GRCm39)	critical splice donor site	probably null
R0530:Hdlbp	UTSW	1	93,358,039 (GRCm39)	unclassified	probably benign
R1276:Hdlbp	UTSW	1	93,348,823 (GRCm39)	missense	probably benign	0.12
R1302:Hdlbp	UTSW	1	93,351,107 (GRCm39)	splice site	probably null
R1331:Hdlbp	UTSW	1	93,348,853 (GRCm39)	missense	probably damaging	1.00
R1537:Hdlbp	UTSW	1	93,345,096 (GRCm39)	missense	probably benign	0.01
R1623:Hdlbp	UTSW	1	93,351,591 (GRCm39)	missense	probably damaging	1.00
R1695:Hdlbp	UTSW	1	93,364,922 (GRCm39)	missense	probably damaging	1.00
R1897:Hdlbp	UTSW	1	93,350,007 (GRCm39)	intron	probably benign
R1984:Hdlbp	UTSW	1	93,358,840 (GRCm39)	missense	probably damaging	0.98
R1985:Hdlbp	UTSW	1	93,358,840 (GRCm39)	missense	probably damaging	0.98
R2066:Hdlbp	UTSW	1	93,349,602 (GRCm39)	intron	probably benign
R2277:Hdlbp	UTSW	1	93,335,900 (GRCm39)	nonsense	probably null
R2349:Hdlbp	UTSW	1	93,349,956 (GRCm39)	intron	probably benign
R3434:Hdlbp	UTSW	1	93,355,883 (GRCm39)	missense	probably benign	0.04
R3978:Hdlbp	UTSW	1	93,349,073 (GRCm39)	missense	probably damaging	1.00
R4645:Hdlbp	UTSW	1	93,349,842 (GRCm39)	intron	probably benign
R5196:Hdlbp	UTSW	1	93,347,915 (GRCm39)	missense	probably damaging	1.00
R5760:Hdlbp	UTSW	1	93,368,499 (GRCm39)	intron	probably benign
R6327:Hdlbp	UTSW	1	93,357,186 (GRCm39)	missense	possibly damaging	0.87
R6420:Hdlbp	UTSW	1	93,358,726 (GRCm39)	missense	probably damaging	1.00
R6428:Hdlbp	UTSW	1	93,359,167 (GRCm39)	missense	possibly damaging	0.91
R6468:Hdlbp	UTSW	1	93,345,389 (GRCm39)	missense	possibly damaging	0.48
R6488:Hdlbp	UTSW	1	93,355,946 (GRCm39)	missense	probably damaging	1.00
R6592:Hdlbp	UTSW	1	93,340,083 (GRCm39)	critical splice donor site	probably null
R6920:Hdlbp	UTSW	1	93,340,083 (GRCm39)	critical splice donor site	probably null
R7156:Hdlbp	UTSW	1	93,341,637 (GRCm39)	missense	probably damaging	1.00
R7391:Hdlbp	UTSW	1	93,358,783 (GRCm39)	missense	possibly damaging	0.93
R7457:Hdlbp	UTSW	1	93,355,944 (GRCm39)	missense	probably benign	0.04
R7498:Hdlbp	UTSW	1	93,341,337 (GRCm39)	missense	probably benign	0.00
R7554:Hdlbp	UTSW	1	93,365,031 (GRCm39)	missense	probably damaging	0.96
R7593:Hdlbp	UTSW	1	93,358,005 (GRCm39)	missense	probably benign	0.01
R7672:Hdlbp	UTSW	1	93,364,821 (GRCm39)	missense	possibly damaging	0.90
R7801:Hdlbp	UTSW	1	93,358,029 (GRCm39)	splice site	probably null
R7904:Hdlbp	UTSW	1	93,351,092 (GRCm39)	missense	probably damaging	1.00
R8062:Hdlbp	UTSW	1	93,366,064 (GRCm39)	missense	probably benign	0.10
R8113:Hdlbp	UTSW	1	93,344,917 (GRCm39)	missense	probably damaging	0.98
R8557:Hdlbp	UTSW	1	93,341,219 (GRCm39)	missense	probably damaging	0.96
R8690:Hdlbp	UTSW	1	93,341,640 (GRCm39)	missense	probably damaging	0.96
R8850:Hdlbp	UTSW	1	93,359,053 (GRCm39)	missense	probably damaging	0.97
R9288:Hdlbp	UTSW	1	93,336,773 (GRCm39)	missense	probably benign	0.01
R9615:Hdlbp	UTSW	1	93,358,014 (GRCm39)	missense	probably benign	0.06
RF020:Hdlbp	UTSW	1	93,368,456 (GRCm39)	missense	probably benign
Z1088:Hdlbp	UTSW	1	93,359,076 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTGAGAAGAAAGCTGCTG -3'
(R):5'- CAATGCGAGCCACAGACTTAG -3'

Sequencing Primer
(F):5'- TGCTGGCAAAGGGGACGTC -3'
(R):5'- ACTTAGGACCCAGGACGTTG -3'

Posted On

2015-02-27