Mutagenetix > Incidental Mutation

Incidental Mutation 'R0432:Hdlbp'

38796

Institutional Source

Beutler Lab

Gene Symbol

Hdlbp

Ensembl Gene

ENSMUSG00000034088

Gene Name

high density lipoprotein (HDL) binding protein

Synonyms

1110005P14Rik, D1Ertd101e

MMRRC Submission

038634-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93333662-93406537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93353054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 414 (I414V)

Ref Sequence

ENSEMBL: ENSMUSP00000139671 (fasta)

Gene Model

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

AlphaFold

Q8VDJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000042498
AA Change: I483V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: I483V

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: I483V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: I483V

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: I414V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088
AA Change: I414V

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

Meta Mutation Damage Score

0.3315

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 36,206,708 (GRCm39)	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,884,785 (GRCm39)	C358S	probably damaging	Het
Abca8b	C	A	11: 109,870,841 (GRCm39)	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,905,551 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,611,726 (GRCm39)	I548R	probably damaging	Het
Alox12b	G	T	11: 69,060,382 (GRCm39)	G646V	probably damaging	Het
Aoah	C	T	13: 21,095,368 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Atxn1l	A	G	8: 110,458,325 (GRCm39)	W646R	probably damaging	Het
Cabp2	T	C	19: 4,134,903 (GRCm39)	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,577,716 (GRCm39)	T719I	probably damaging	Het
Camk1d	A	T	2: 5,449,946 (GRCm39)	H70Q	probably damaging	Het
Car1	T	C	3: 14,835,236 (GRCm39)	T170A	probably benign	Het
Ccdc162	T	C	10: 41,417,856 (GRCm39)	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273 (GRCm39)	C18*	probably null	Het
Cdk17	A	T	10: 93,073,652 (GRCm39)		probably benign	Het
Chd9	T	A	8: 91,721,078 (GRCm39)		probably benign	Het
Chrm5	T	A	2: 112,310,000 (GRCm39)	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,738,487 (GRCm39)	T423A	probably benign	Het
Col11a1	A	G	3: 113,999,550 (GRCm39)		probably benign	Het
Col27a1	T	C	4: 63,143,848 (GRCm39)	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,314,003 (GRCm39)	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,457,173 (GRCm39)	K180*	probably null	Het
Dmxl2	T	C	9: 54,324,235 (GRCm39)	R876G	probably benign	Het
Dnmbp	A	T	19: 43,843,296 (GRCm39)	Y432*	probably null	Het
Elapor2	G	T	5: 9,490,966 (GRCm39)	G659*	probably null	Het
Eml2	C	T	7: 18,913,456 (GRCm39)	Q125*	probably null	Het
Faap100	A	C	11: 120,264,702 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gda	A	G	19: 21,394,471 (GRCm39)	Y129H	probably damaging	Het
Gga3	G	A	11: 115,481,350 (GRCm39)	R207C	probably damaging	Het
Glg1	T	C	8: 111,909,201 (GRCm39)	I496M	probably damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10322	A	T	10: 59,452,030 (GRCm39)	H49L	possibly damaging	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Gramd2b	G	A	18: 56,607,141 (GRCm39)	C85Y	probably benign	Het
Grhl1	C	T	12: 24,632,918 (GRCm39)	P153L	probably benign	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Lipe	G	A	7: 25,097,913 (GRCm39)	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,147,079 (GRCm39)	E631G	probably damaging	Het
Lvrn	T	A	18: 47,038,366 (GRCm39)	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,042,881 (GRCm39)	H250Q	probably damaging	Het
Mup3	T	C	4: 62,003,519 (GRCm39)	T117A	probably benign	Het
Myo6	A	C	9: 80,181,256 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,983,951 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,770 (GRCm39)	N157K	probably damaging	Het
Or4p7	C	T	2: 88,222,377 (GRCm39)	T262I	probably damaging	Het
Or5an1	T	A	19: 12,261,267 (GRCm39)	M285K	probably damaging	Het
Or5m12	T	A	2: 85,734,501 (GRCm39)	N299I	probably damaging	Het
Or5w14	G	A	2: 87,541,774 (GRCm39)	H159Y	probably benign	Het
Or9m1	T	C	2: 87,733,304 (GRCm39)	T239A	probably damaging	Het
P4ha1	T	A	10: 59,184,079 (GRCm39)	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,632,588 (GRCm39)	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,672,264 (GRCm39)	I379F	probably damaging	Het
Psme3	T	A	11: 101,211,268 (GRCm39)	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045 (GRCm39)	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,218,078 (GRCm39)		probably null	Het
Rabgap1l	A	C	1: 160,549,775 (GRCm39)	I277R	probably benign	Het
Rapgef1	C	T	2: 29,569,828 (GRCm39)	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,676,730 (GRCm39)	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,389,328 (GRCm39)	C38S	probably damaging	Het
Rptor	C	T	11: 119,671,379 (GRCm39)	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332 (GRCm39)	L208S	probably damaging	Het
Slc12a4	T	C	8: 106,686,120 (GRCm39)	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,560,735 (GRCm39)	V347F	probably benign	Het
Slit1	G	A	19: 41,731,732 (GRCm39)	T39I	probably damaging	Het
Sra1	T	C	18: 36,810,556 (GRCm39)	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,132,184 (GRCm39)	L215P	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 51,104,280 (GRCm39)		probably benign	Het
Tgfbi	T	C	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem232	T	C	17: 65,563,498 (GRCm39)	M632V	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Tpsab1	A	G	17: 25,562,798 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,351,505 (GRCm39)	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,357,329 (GRCm39)	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,929,320 (GRCm39)	Y1052C	probably damaging	Het
Zan	A	T	5: 137,380,578 (GRCm39)		probably benign	Het
Zfp652	G	A	11: 95,654,565 (GRCm39)	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,629,955 (GRCm39)	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,848,134 (GRCm39)	Y110C	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
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
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'- AGCTCCAGGTAGTCAGTGAGATGTG -3'
(R):5'- AGCTGGAAGACCAGTGTCCTAGAAG -3'

Sequencing Primer
(F):5'- ATGTGATTTGGAGAACTTCATGCTC -3'
(R):5'- CCAGTGTCCTAGAAGAGCACAG -3'

Posted On

2013-05-23