Mutagenetix > Incidental Mutation

Incidental Mutation 'R9658:Apoa1'

735547

Institutional Source

Beutler Lab

Gene Symbol

Apoa1

Ensembl Gene

ENSMUSG00000032083

Gene Name

apolipoprotein A-I

Synonyms

Lvtw-1, Ltw-1, Apoa-1, Alp-1, Sep2, Sep-1, Sep-2, Brp-14

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R9658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46139928-46141767 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46141280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 125 (D125E)

Ref Sequence

ENSEMBL: ENSMUSP00000034588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034586] [ENSMUST00000034588] [ENSMUST00000118649] [ENSMUST00000121916] [ENSMUST00000132155] [ENSMUST00000145672]

AlphaFold

Q00623

PDB Structure

Monomeric Mouse ApoAI(1-216) [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000034586

SMART Domains

Protein: ENSMUSP00000034586
Gene: ENSMUSG00000032081

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Apo-CIII	22	91	2.4e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034588
AA Change: D125E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000034588
Gene: ENSMUSG00000032083
AA Change: D125E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	68	259	1.2e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118649

SMART Domains

Protein: ENSMUSP00000113058
Gene: ENSMUSG00000032081

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Apo-CIII	22	91	2.4e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121916

SMART Domains

Protein: ENSMUSP00000113126
Gene: ENSMUSG00000032081

Domain	Start	End	E-Value	Type
Pfam:Apo-CIII	60	129	7.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132155

Predicted Effect

probably benign
Transcript: ENSMUST00000145672

SMART Domains

Protein: ENSMUSP00000115025
Gene: ENSMUSG00000032081

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Apo-CIII	22	53	4.8e-17	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is the major protein component of plasma high density lipoprotein (HDL). This protein facilitates the removal of cholesterol and other fats from tissues by transporting them to the liver for excretion. This protein is a cofactor for lecithin cholesterolacyltransferase, an enzyme that catalyzes the conversion of free cholesterol to cholesteryl esters. Mutations in this gene in humans causes familial HDL deficiency, Tangier disease and familial visceral amyloidosis. Similar clinical features are exhibited by mice with mutations in this gene. This gene is clustered with three other apolipoprotein genes on chromosome 9. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced high density lipoprotein (HDL), non-HDL cholesterol, and cholesterol ester levels, increased plasma triglyceride and free cholesterol levels, and impaired corticosteroid synthesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	C	T	18: 70,600,401 (GRCm39)		probably null	Het
Abca12	T	C	1: 71,325,634 (GRCm39)	I1521M	probably damaging	Het
Abcc3	A	G	11: 94,263,703 (GRCm39)	S268P	possibly damaging	Het
Adamts20	G	C	15: 94,249,626 (GRCm39)	P464A	probably damaging	Het
Atp6v0a1	C	A	11: 100,909,414 (GRCm39)	Q48K	probably benign	Het
Bptf	T	C	11: 107,002,170 (GRCm39)	N314S	probably damaging	Het
Cdh20	T	C	1: 109,988,785 (GRCm39)	V229A	probably damaging	Het
Cfap46	G	A	7: 139,246,229 (GRCm39)	T378M		Het
Clca3b	T	A	3: 144,543,575 (GRCm39)	D418V	probably damaging	Het
Dennd4c	T	A	4: 86,754,625 (GRCm39)	L1545*	probably null	Het
Dnajc13	A	G	9: 104,115,728 (GRCm39)	V27A	probably benign	Het
Efcab3	A	G	11: 104,611,120 (GRCm39)	K321E	probably benign	Het
Eif2ak2	A	T	17: 79,183,632 (GRCm39)	D72E	probably benign	Het
Eif2ak4	T	C	2: 118,269,511 (GRCm39)	I862T	probably damaging	Het
Eif4g1	T	C	16: 20,502,863 (GRCm39)	I1022T	probably benign	Het
Enpp3	A	T	10: 24,649,802 (GRCm39)	*875R	probably null	Het
F11	T	C	8: 45,698,671 (GRCm39)	Y491C	probably damaging	Het
Fam98c	A	C	7: 28,852,206 (GRCm39)	W118G	probably damaging	Het
Fbxo43	A	T	15: 36,152,282 (GRCm39)	L509Q	probably damaging	Het
Fbxw5	A	G	2: 25,393,870 (GRCm39)	H366R	probably damaging	Het
Flt1	G	T	5: 147,525,377 (GRCm39)	N920K	probably damaging	Het
Git1	T	A	11: 77,390,581 (GRCm39)	F106I	probably damaging	Het
Glipr1l2	A	G	10: 111,942,868 (GRCm39)	E241G	probably damaging	Het
Gm2381	A	C	7: 42,469,729 (GRCm39)	C132G	probably damaging	Het
Gm49383	A	G	12: 69,239,628 (GRCm39)	I237T		Het
Gm7324	T	A	14: 43,952,282 (GRCm39)	D308E	probably benign	Het
Gpr17	A	G	18: 32,080,421 (GRCm39)	L214P	probably damaging	Het
Gtf3c1	A	T	7: 125,306,734 (GRCm39)	L39Q	probably damaging	Het
H2-Q6	C	T	17: 35,644,185 (GRCm39)	R56C	probably damaging	Het
Hcar2	T	C	5: 124,002,532 (GRCm39)	T324A	possibly damaging	Het
Ksr2	T	C	5: 117,885,425 (GRCm39)	S750P	probably damaging	Het
Lipi	C	A	16: 75,357,689 (GRCm39)	R292L	probably benign	Het
Map4k3	C	A	17: 80,961,306 (GRCm39)	M133I	probably benign	Het
Marf1	A	T	16: 13,958,087 (GRCm39)	L805Q	probably damaging	Het
Mccc2	T	A	13: 100,090,754 (GRCm39)	R460W	probably damaging	Het
Mgam	A	G	6: 40,721,311 (GRCm39)	D312G	possibly damaging	Het
Nadk2	A	T	15: 9,103,449 (GRCm39)	K360*	probably null	Het
Nalf1	T	C	8: 9,820,114 (GRCm39)	D302G	probably benign	Het
Nars2	A	G	7: 96,689,178 (GRCm39)	I367V	probably benign	Het
Nppb	T	C	4: 148,070,951 (GRCm39)	S109P	possibly damaging	Het
Odf2	G	A	2: 29,779,813 (GRCm39)	R15Q	probably benign	Het
Or4f59	C	A	2: 111,872,823 (GRCm39)	A185S	probably damaging	Het
Or51l4	C	T	7: 103,404,028 (GRCm39)	V255M	probably damaging	Het
Or5ac25	A	T	16: 59,182,106 (GRCm39)	H158Q	probably damaging	Het
Osbpl1a	A	T	18: 12,889,269 (GRCm39)	I949N	probably benign	Het
Pan3	T	C	5: 147,479,881 (GRCm39)	F55L	probably benign	Het
Patj	A	G	4: 98,353,377 (GRCm39)	D640G	probably null	Het
Pdxk	T	C	10: 78,287,403 (GRCm39)	K53E	probably benign	Het
Pja2	A	G	17: 64,599,868 (GRCm39)	S539P	probably damaging	Het
Plscr1	T	A	9: 92,148,535 (GRCm39)	C158*	probably null	Het
Prdm14	T	C	1: 13,189,145 (GRCm39)	T400A	probably benign	Het
Rag1	C	T	2: 101,473,229 (GRCm39)	V638M	possibly damaging	Het
Ros1	A	G	10: 51,967,069 (GRCm39)	S1734P	probably damaging	Het
S100a9	T	C	3: 90,600,081 (GRCm39)	H105R	unknown	Het
Shisa9	A	T	16: 12,062,520 (GRCm39)	Q247L	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc27a4	G	A	2: 29,701,301 (GRCm39)	R364Q	probably damaging	Het
Spag17	C	T	3: 99,934,932 (GRCm39)	P713S	possibly damaging	Het
Tbc1d4	T	A	14: 101,845,856 (GRCm39)	H14L	probably damaging	Het
Tmem144	T	A	3: 79,729,991 (GRCm39)	Y253F	probably damaging	Het
Tmem204	C	T	17: 25,299,322 (GRCm39)	G66R	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,942,424 (GRCm39)	V453E	probably damaging	Het
Tns1	G	C	1: 73,981,182 (GRCm39)	Q1061E	probably benign	Het
Tns1	G	T	1: 73,981,183 (GRCm39)	N1060K	probably benign	Het
Trav5-1	A	G	14: 52,860,428 (GRCm39)	K78E	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Usp17lc	G	A	7: 103,067,389 (GRCm39)	G228D	possibly damaging	Het
Uvssa	T	C	5: 33,568,333 (GRCm39)	C574R	probably damaging	Het
Veph1	G	A	3: 66,171,434 (GRCm39)	Q3*	probably null	Het
Vps13b	T	A	15: 35,623,774 (GRCm39)	D1230E	probably benign	Het
Xkr9	T	A	1: 13,771,318 (GRCm39)	I278N	probably damaging	Het
Zbed4	C	A	15: 88,664,742 (GRCm39)	A270E	probably benign	Het
Zfp366	A	T	13: 99,365,435 (GRCm39)	T199S	probably benign	Het

Other mutations in Apoa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Apoa1	APN	9	46,140,548 (GRCm39)	missense	possibly damaging	0.78
R0391:Apoa1	UTSW	9	46,141,140 (GRCm39)	missense	probably benign	0.00
R2113:Apoa1	UTSW	9	46,140,512 (GRCm39)	missense	probably damaging	1.00
R2157:Apoa1	UTSW	9	46,140,471 (GRCm39)	missense	probably damaging	0.97
R2177:Apoa1	UTSW	9	46,141,371 (GRCm39)	nonsense	probably null
R3854:Apoa1	UTSW	9	46,141,521 (GRCm39)	missense	probably benign	0.02
R7436:Apoa1	UTSW	9	46,141,100 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTGGAAAACTGGGACACTC -3'
(R):5'- TTGCTCTTGAGCTCAGCCAG -3'

Sequencing Primer
(F):5'- GACACTCTGGGTTCAACCGTTAG -3'
(R):5'- GCTGTGTGCGCAGAGAGTC -3'

Posted On

2022-11-14