Mutagenetix > Incidental Mutation

Incidental Mutation 'R6293:Apoc1'

508551

Institutional Source

Beutler Lab

Gene Symbol

Apoc1

Ensembl Gene

ENSMUSG00000040564

Gene Name

apolipoprotein C-I

Synonyms

MMRRC Submission

044462-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R6293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19423405-19426584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19425817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 68 (T68S)

Ref Sequence

ENSEMBL: ENSMUSP00000104091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003066] [ENSMUST00000045035] [ENSMUST00000108451] [ENSMUST00000172808] [ENSMUST00000172983] [ENSMUST00000173739] [ENSMUST00000174144] [ENSMUST00000207978] [ENSMUST00000174064] [ENSMUST00000174355]

AlphaFold

P34928

Predicted Effect

probably benign
Transcript: ENSMUST00000003066

SMART Domains

Protein: ENSMUSP00000003066
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	291	3.8e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000045035
AA Change: T68S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045571
Gene: ENSMUSG00000040564
AA Change: T68S

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ApoC-I	27	87	1.7e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108451
AA Change: T68S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104091
Gene: ENSMUSG00000040564
AA Change: T68S

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ApoC-I	27	87	3.2e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167646

SMART Domains

Protein: ENSMUSP00000132032
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	201	1.9e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172808

SMART Domains

Protein: ENSMUSP00000134558
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Apolipoprotein	61	146	8.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172983

SMART Domains

Protein: ENSMUSP00000133359
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	232	1.3e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173739

SMART Domains

Protein: ENSMUSP00000133371
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	291	3.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174144

SMART Domains

Protein: ENSMUSP00000134622
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	232	1.3e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207500

Predicted Effect

probably benign
Transcript: ENSMUST00000207978

Predicted Effect

probably benign
Transcript: ENSMUST00000174064

SMART Domains

Protein: ENSMUSP00000133302
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	73	284	2e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174355

SMART Domains

Protein: ENSMUSP00000134160
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	291	3.8e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207525

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: This gene encodes a precursor plasma protein that is cleaved to yield a signal peptide and two alternatively processed mature peptides. The encoded protein, which is a component of chylomicrons, very low density lipoproteins and high density lipoproteins, transports lipids from the intestines to other locations in the body. This protein binds to free fatty acids preventing their uptake by cells. This protein is a cofactor for lecithin cholesterol acyltransferase, an enzyme that catalyzes the conversion of free cholesterol to cholesteryl esters. The encoded protein inhibits the activity of the cholesteryl ester transfer protein which promotes the exchange of neutral lipids between lipoproteins. In humans this gene is associated with risk of coronary artery disease and age-associated memory impairment. Mice lacking this gene demonstrate impaired memory. This gene is clustered with three other apolipoprotein genes on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal serum lipid levels on a chow diet, develop hypercholesterolemia only when fed a high-fat/high-cholesterol diet, and show significant increases in the liver content of cholesteryl esters and triglycerides and in biliary cholesterol concentration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Abcb1b	T	C	5: 8,903,493 (GRCm39)	I1048T	probably benign	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Alkbh8	G	T	9: 3,347,841 (GRCm39)	L211F	possibly damaging	Het
Ankrd27	T	C	7: 35,307,885 (GRCm39)	S375P	possibly damaging	Het
Arfgef2	T	A	2: 166,715,508 (GRCm39)	Y1318N	possibly damaging	Het
Camsap2	C	A	1: 136,215,658 (GRCm39)	R345L	probably damaging	Het
Ccdc38	C	T	10: 93,398,659 (GRCm39)	Q46*	probably null	Het
Cdk12	T	A	11: 98,115,379 (GRCm39)	M840K	unknown	Het
Cfap251	A	C	5: 123,460,511 (GRCm39)	N1158H	probably damaging	Het
Col12a1	A	T	9: 79,521,640 (GRCm39)	N2772K	probably benign	Het
Dthd1	A	G	5: 63,000,193 (GRCm39)	D505G	probably damaging	Het
Elf1	C	T	14: 79,798,226 (GRCm39)	H38Y	probably damaging	Het
Gcnt2	T	A	13: 41,072,173 (GRCm39)	V272D	probably damaging	Het
Gm9964	T	A	11: 79,187,420 (GRCm39)	K9M	unknown	Het
Gpr155	A	G	2: 73,204,341 (GRCm39)	S158P	possibly damaging	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hydin	A	G	8: 111,324,543 (GRCm39)	S4635G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Lrrc8c	A	G	5: 105,754,612 (GRCm39)	Y129C	probably damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mcm3ap	C	G	10: 76,307,312 (GRCm39)	Y418*	probably null	Het
Mpdz	A	G	4: 81,278,293 (GRCm39)	L764P	probably damaging	Het
Myt1l	A	G	12: 29,877,627 (GRCm39)	D426G	unknown	Het
Ndel1	C	T	11: 68,727,101 (GRCm39)	R192H	probably damaging	Het
Nudt21	T	C	8: 94,755,506 (GRCm39)	D134G	probably damaging	Het
Nup210l	A	T	3: 90,022,371 (GRCm39)	H113L	probably damaging	Het
Nxf1	A	G	19: 8,746,546 (GRCm39)	K586E	probably damaging	Het
Or2ag15	T	C	7: 106,340,613 (GRCm39)	H176R	probably damaging	Het
Or4s2	A	G	2: 88,473,624 (GRCm39)	E171G	possibly damaging	Het
Osbpl8	A	G	10: 111,108,099 (GRCm39)	Y365C	possibly damaging	Het
Pkd2l2	A	G	18: 34,560,497 (GRCm39)	Y368C	probably damaging	Het
Pkn2	A	G	3: 142,515,465 (GRCm39)	F649L	probably benign	Het
Pla2g4a	T	C	1: 149,755,798 (GRCm39)	Y205C	probably damaging	Het
Prex2	A	G	1: 11,232,522 (GRCm39)	N863S	probably benign	Het
Prkdc	A	G	16: 15,605,019 (GRCm39)	K2979R	probably benign	Het
Ptk6	T	C	2: 180,840,253 (GRCm39)	Y251C	probably damaging	Het
Rapgef6	T	A	11: 54,525,607 (GRCm39)	W334R	probably damaging	Het
Rbm11	A	T	16: 75,393,655 (GRCm39)		probably null	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rhbg	G	A	3: 88,153,133 (GRCm39)	R274*	probably null	Het
Rpp30	A	G	19: 36,081,845 (GRCm39)	*269W	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Slc44a1	A	G	4: 53,561,099 (GRCm39)	K605R	probably damaging	Het
Slco2a1	A	G	9: 102,927,346 (GRCm39)	S80G	probably benign	Het
Tmem50b	A	T	16: 91,380,164 (GRCm39)	M71K	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyro3	A	G	2: 119,638,481 (GRCm39)	T303A	possibly damaging	Het
Uba3	A	T	6: 97,173,869 (GRCm39)	D105E	probably damaging	Het
Vmn1r21	T	C	6: 57,821,255 (GRCm39)	D63G	probably benign	Het
Vstm2b	T	A	7: 40,549,533 (GRCm39)	I63N	probably damaging	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het
Zscan22	T	A	7: 12,640,834 (GRCm39)	C359*	probably null	Het

Predicted Primers

PCR Primer
(F):5'- AGTTGGCTGGGAGTTACACC -3'
(R):5'- ATGAGTTTGCTCGCAACCCTC -3'

Sequencing Primer
(F):5'- GAGCACTTTGACATCCAGTTCAATG -3'
(R):5'- CAACCCTCTCGCGGCAG -3'

Posted On

2018-03-15