Mutagenetix > Incidental Mutation

Incidental Mutation 'R7593:Hdlbp'

587490

Institutional Source

Beutler Lab

Gene Symbol

Hdlbp

Ensembl Gene

ENSMUSG00000034088

Gene Name

high density lipoprotein (HDL) binding protein

Synonyms

1110005P14Rik, D1Ertd101e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R7593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93333662-93406537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93358005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 299 (A299T)

Ref Sequence

ENSEMBL: ENSMUSP00000043047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042498] [ENSMUST00000170883] [ENSMUST00000186164] [ENSMUST00000188988] [ENSMUST00000190321]

AlphaFold

Q8VDJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000042498
AA Change: A299T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: A299T

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: ENSMUST00000170883
AA Change: A299T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: A299T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188988

SMART Domains

Protein: ENSMUSP00000140946
Gene: ENSMUSG00000034088

Domain	Start	End	E-Value	Type
Blast:KH	74	148	2e-28	BLAST
Pfam:KH_1	152	177	2e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190321

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 64,055,774 (GRCm39)	A170V	probably damaging	Het
Acp6	A	T	3: 97,073,266 (GRCm39)	E102D	probably benign	Het
Acss1	T	A	2: 150,461,688 (GRCm39)	R632*	probably null	Het
Adamtsl1	G	T	4: 86,259,450 (GRCm39)	C832F	probably damaging	Het
Adgrg6	T	G	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Alkbh1	A	T	12: 87,487,095 (GRCm39)	Y91*	probably null	Het
Arhgap35	A	T	7: 16,298,786 (GRCm39)	I93N	probably damaging	Het
Asic2	A	T	11: 81,858,657 (GRCm39)	D118E	probably benign	Het
Asprv1	G	T	6: 86,605,762 (GRCm39)	V203L	probably damaging	Het
Atad2b	G	A	12: 5,081,726 (GRCm39)	D1212N	probably benign	Het
Atp4a	A	G	7: 30,424,105 (GRCm39)	I960V	probably benign	Het
Bin1	G	T	18: 32,552,932 (GRCm39)	E186*	probably null	Het
Bmp10	A	G	6: 87,410,651 (GRCm39)	Y148C	probably damaging	Het
Ccdc152	T	A	15: 3,310,137 (GRCm39)	D246V	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cdh9	A	T	15: 16,823,261 (GRCm39)	D81V	probably damaging	Het
Cep162	A	T	9: 87,086,250 (GRCm39)	S1025T	probably benign	Het
Cidea	A	G	18: 67,493,283 (GRCm39)	I101V	probably benign	Het
Clock	G	A	5: 76,384,145 (GRCm39)	S478L	possibly damaging	Het
Cp	T	A	3: 20,020,494 (GRCm39)	N162K	probably benign	Het
Crb1	C	T	1: 139,164,978 (GRCm39)	E1110K	probably damaging	Het
Cyp2b13	A	T	7: 25,780,416 (GRCm39)	I146L	possibly damaging	Het
D630045J12Rik	A	G	6: 38,172,429 (GRCm39)	S580P	possibly damaging	Het
Dars2	T	C	1: 160,885,113 (GRCm39)	E224G	probably damaging	Het
Dcbld2	A	G	16: 58,244,941 (GRCm39)	T72A	possibly damaging	Het
Ddx11	A	T	17: 66,433,193 (GRCm39)	I8F	possibly damaging	Het
Dennd2d	T	C	3: 106,407,244 (GRCm39)	F432L	probably damaging	Het
Dnah10	T	C	5: 124,823,608 (GRCm39)	V543A	probably benign	Het
Eef2k	G	A	7: 120,488,491 (GRCm39)		probably null	Het
Elmo1	A	G	13: 20,474,610 (GRCm39)	M345V	probably benign	Het
Ephb4	A	G	5: 137,359,560 (GRCm39)	M377V	probably benign	Het
Erbb4	C	A	1: 68,293,758 (GRCm39)	R711L	probably damaging	Het
Fads1	A	G	19: 10,162,361 (GRCm39)	E95G	probably damaging	Het
Farsa	G	A	8: 85,594,278 (GRCm39)		probably null	Het
Galntl6	A	G	8: 58,230,293 (GRCm39)	S42P	probably damaging	Het
Gga2	G	A	7: 121,589,672 (GRCm39)	T559M	probably benign	Het
Glipr1l2	G	A	10: 111,928,465 (GRCm39)	G120D	probably damaging	Het
Gm14226	A	T	2: 154,866,114 (GRCm39)	I24L	unknown	Het
Gprc5b	G	T	7: 118,583,492 (GRCm39)	R126S	probably damaging	Het
Gys1	A	G	7: 45,092,360 (GRCm39)	D321G	probably damaging	Het
Hic2	A	G	16: 17,076,979 (GRCm39)	T603A	probably damaging	Het
Hoxa11	A	T	6: 52,220,524 (GRCm39)	I253N	probably damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Inpp5d	T	A	1: 87,645,500 (GRCm39)	S1023T	possibly damaging	Het
Kif21a	C	T	15: 90,828,064 (GRCm39)	A1233T	probably benign	Het
Kif9	A	T	9: 110,350,421 (GRCm39)	T771S	possibly damaging	Het
Klre1	T	A	6: 129,560,150 (GRCm39)	C141S	probably damaging	Het
Lats1	A	G	10: 7,577,476 (GRCm39)	Y200C	probably damaging	Het
Lgr4	T	A	2: 109,829,801 (GRCm39)	L247H	probably damaging	Het
Lrrc37a	T	C	11: 103,391,778 (GRCm39)	K1216E	probably benign	Het
Lrrc41	G	A	4: 115,950,141 (GRCm39)	R518H	possibly damaging	Het
Lrrk1	A	G	7: 65,958,439 (GRCm39)	V320A	probably benign	Het
Mcm9	C	T	10: 53,506,088 (GRCm39)	R62H	probably benign	Het
Mmp10	T	G	9: 7,503,154 (GRCm39)	L38R	probably damaging	Het
Mroh8	A	G	2: 157,071,867 (GRCm39)	L546P	probably damaging	Het
Mtcl2	A	T	2: 156,882,776 (GRCm39)	D425E	probably benign	Het
Myt1	T	A	2: 181,439,532 (GRCm39)	D393E	possibly damaging	Het
Mzb1	A	T	18: 35,780,901 (GRCm39)	I129N	probably damaging	Het
Nek10	A	G	14: 14,826,955 (GRCm38)	D51G	probably benign	Het
Nme5	A	G	18: 34,700,201 (GRCm39)	I148T	probably benign	Het
Nr2e1	G	A	10: 42,439,475 (GRCm39)	P348L	probably damaging	Het
Nrp2	A	G	1: 62,758,203 (GRCm39)	E63G	probably damaging	Het
Or2d2	A	T	7: 106,727,782 (GRCm39)	S273T	probably damaging	Het
Or51ab3	A	T	7: 103,200,956 (GRCm39)		probably benign	Het
Or52e3	A	G	7: 102,869,471 (GRCm39)	E182G	probably damaging	Het
Or52e5	A	G	7: 104,718,704 (GRCm39)	H10R	probably benign	Het
Or56a3	A	G	7: 104,735,372 (GRCm39)	T150A	probably benign	Het
Pak5	A	G	2: 135,942,884 (GRCm39)	S419P	probably benign	Het
Pfas	C	A	11: 68,881,921 (GRCm39)	M25I		Het
Prdm9	A	G	17: 15,764,867 (GRCm39)	S638P	possibly damaging	Het
Psd	G	A	19: 46,301,352 (GRCm39)	T954I	possibly damaging	Het
Psph	T	C	5: 129,864,337 (GRCm39)		probably benign	Het
Ptprf	A	G	4: 118,069,593 (GRCm39)	I1517T	probably benign	Het
Rassf8	A	G	6: 145,761,129 (GRCm39)	R152G	probably benign	Het
Rfx3	G	A	19: 27,827,139 (GRCm39)	T149I	probably benign	Het
Rfx8	A	T	1: 39,722,838 (GRCm39)	F260I	probably damaging	Het
Rnft1	C	T	11: 86,384,023 (GRCm39)	Q308*	probably null	Het
Rock2	A	G	12: 17,008,241 (GRCm39)	N528S	probably benign	Het
Rpp25l	T	C	4: 41,712,305 (GRCm39)	R157G	unknown	Het
Ryr1	A	T	7: 28,735,528 (GRCm39)	N4083K	probably damaging	Het
Scd1	G	T	19: 44,388,739 (GRCm39)	T237N	probably benign	Het
Sema3d	T	C	5: 12,558,112 (GRCm39)	F215L	probably benign	Het
Sema7a	C	T	9: 57,867,858 (GRCm39)	T478I	probably benign	Het
Sftpc	T	C	14: 70,759,623 (GRCm39)	T99A	possibly damaging	Het
Slc25a4	G	A	8: 46,662,241 (GRCm39)	T139I	probably damaging	Het
Snx27	T	C	3: 94,410,272 (GRCm39)	E468G	possibly damaging	Het
Snx33	T	C	9: 56,834,058 (GRCm39)	K4E	possibly damaging	Het
Soat1	A	T	1: 156,268,148 (GRCm39)	L253*	probably null	Het
Sycp2l	A	T	13: 41,326,192 (GRCm39)	N749I	probably damaging	Het
Synj2bp	A	T	12: 81,557,664 (GRCm39)	I47N	probably damaging	Het
Tmem82	T	A	4: 141,343,605 (GRCm39)	I222F	probably damaging	Het
Ube2o	A	T	11: 116,471,905 (GRCm39)	L112Q	possibly damaging	Het
Vmn1r204	G	A	13: 22,740,754 (GRCm39)	W128*	probably null	Het
Vmn2r114	A	T	17: 23,510,817 (GRCm39)	Y554*	probably null	Het
Vmn2r62	A	T	7: 42,437,213 (GRCm39)	Y424N	possibly damaging	Het
Vmn2r70	A	T	7: 85,215,312 (GRCm39)	L74*	probably null	Het
Vmp1	T	A	11: 86,477,377 (GRCm39)	Y341F	probably benign	Het
Vps13a	A	T	19: 16,703,027 (GRCm39)	V642D	probably damaging	Het
Vps33a	T	C	5: 123,674,619 (GRCm39)	M383V	probably benign	Het
Vwf	G	A	6: 125,624,731 (GRCm39)	V1827I		Het
Zc3hav1	A	G	6: 38,306,121 (GRCm39)	Y644H	probably benign	Het
Zfp429	A	C	13: 67,538,410 (GRCm39)	C345G	probably damaging	Het
Zfp595	T	C	13: 67,464,823 (GRCm39)	H483R	probably benign	Het
Zfp748	G	T	13: 67,690,638 (GRCm39)	H207Q	probably benign	Het
Zfp758	T	C	17: 22,593,939 (GRCm39)	S142P	probably damaging	Het
Znfx1	A	C	2: 166,898,145 (GRCm39)	S260A	probably benign	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
R1900:Hdlbp	UTSW	1	93,349,959 (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
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'- CCTGTAGGAATCATCAGAGCAC -3'
(R):5'- AAGTAGAATTTCTGGGGAGGCC -3'

Sequencing Primer
(F):5'- GGAAGCTACCTTGGCATAGACTTC -3'
(R):5'- AATTTCTGGGGAGGCCAATCC -3'

Posted On

2019-10-24