Mutagenetix > Incidental Mutation

Incidental Mutation 'R7436:Apoa1'

605577

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

045512-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R7436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46139928-46141767 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 46141100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150525 (fasta)

Gene Model

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

AlphaFold

Q00623

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 null
Transcript: ENSMUST00000034588

SMART Domains

Protein: ENSMUSP00000034588
Gene: ENSMUSG00000032083

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

Predicted Effect

probably null
Transcript: ENSMUST00000034588

SMART Domains

Protein: ENSMUSP00000034588
Gene: ENSMUSG00000032083

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 null
Transcript: ENSMUST00000132155

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,805,178 (GRCm39)		probably null	Het
2310034C09Rik	A	G	16: 88,556,242 (GRCm39)	Y152C	probably benign	Het
Acads	C	A	5: 115,249,057 (GRCm39)	Q365H	probably damaging	Het
Akap1	A	G	11: 88,736,354 (GRCm39)	S103P	probably damaging	Het
Ampd1	T	A	3: 102,981,435 (GRCm39)		probably null	Het
Asb16	A	G	11: 102,163,481 (GRCm39)	D157G	possibly damaging	Het
Bank1	T	C	3: 135,761,561 (GRCm39)	N748D	possibly damaging	Het
BC034090	C	A	1: 155,102,127 (GRCm39)	G46W	probably damaging	Het
Ccdc202	A	T	14: 96,120,027 (GRCm39)	K261N	probably benign	Het
Ccdc73	T	A	2: 104,782,214 (GRCm39)	V190E	probably damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyb561a3	A	G	19: 10,559,696 (GRCm39)	Y7C	probably damaging	Het
Cyp2t4	A	T	7: 26,857,668 (GRCm39)	D427V	probably damaging	Het
Cyp4f14	T	C	17: 33,128,131 (GRCm39)	T295A	probably benign	Het
D430041D05Rik	T	C	2: 104,087,447 (GRCm39)	T510A	probably benign	Het
Dennd6a	G	T	14: 26,300,865 (GRCm39)	E26*	probably null	Het
Dusp10	T	C	1: 183,801,418 (GRCm39)	I395T	probably damaging	Het
Dzip3	T	A	16: 48,772,352 (GRCm39)	H439L	probably damaging	Het
Heatr5b	T	A	17: 79,075,962 (GRCm39)	D1452V	probably benign	Het
Hsd3b2	A	G	3: 98,619,112 (GRCm39)	F278L	probably benign	Het
Hspg2	T	A	4: 137,242,975 (GRCm39)	M702K	probably damaging	Het
Hydin	T	C	8: 111,310,546 (GRCm39)	F4081L	probably damaging	Het
Ido1	T	G	8: 25,076,932 (GRCm39)	T209P	probably benign	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ipo8	T	C	6: 148,691,303 (GRCm39)	Y689C	probably benign	Het
Macf1	C	T	4: 123,350,436 (GRCm39)	R3809Q	probably benign	Het
Manea	T	C	4: 26,328,228 (GRCm39)	Y271C	probably damaging	Het
Mroh2b	A	G	15: 4,971,036 (GRCm39)	T1014A	probably benign	Het
Nek5	A	G	8: 22,598,056 (GRCm39)	F200L	probably damaging	Het
Nipal1	A	G	5: 72,824,984 (GRCm39)	I226V	probably benign	Het
Nipsnap3a	A	T	4: 52,994,159 (GRCm39)	N80I	probably damaging	Het
Nmur1	G	A	1: 86,314,100 (GRCm39)	P389S	probably benign	Het
Or10d5	G	T	9: 39,861,349 (GRCm39)	C239*	probably null	Het
Or1p1	T	C	11: 74,179,511 (GRCm39)	L13P	possibly damaging	Het
Or8u10	T	C	2: 85,915,251 (GRCm39)	Y290C	probably damaging	Het
Patl2	A	C	2: 121,958,006 (GRCm39)	V84G	probably benign	Het
Pcdhb4	T	C	18: 37,442,328 (GRCm39)	V546A	probably damaging	Het
Phf20l1	G	T	15: 66,469,599 (GRCm39)	S168I	possibly damaging	Het
Phgdh	T	C	3: 98,247,045 (GRCm39)	N35S	probably benign	Het
Pigw	A	T	11: 84,768,789 (GRCm39)	M180K	probably damaging	Het
Pkhd1	G	T	1: 20,270,925 (GRCm39)	H3209Q	probably benign	Het
Plbd2	A	G	5: 120,624,861 (GRCm39)	F436L	probably damaging	Het
Plch2	T	C	4: 155,068,553 (GRCm39)	T1358A	probably benign	Het
Poll	C	T	19: 45,541,496 (GRCm39)	V491M	probably damaging	Het
Polr1e	A	G	4: 45,024,553 (GRCm39)		probably null	Het
Ppp1r35	G	A	5: 137,778,279 (GRCm39)	W258*	probably null	Het
Ptpdc1	A	T	13: 48,740,142 (GRCm39)	F430I	probably benign	Het
Ptprh	T	C	7: 4,555,742 (GRCm39)	E739G	probably damaging	Het
Ramp2	T	C	11: 101,138,765 (GRCm39)	V148A	possibly damaging	Het
Rapgef6	T	C	11: 54,501,747 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,627,593 (GRCm39)		probably null	Het
Rnf39	A	T	17: 37,254,241 (GRCm39)	S88C	probably benign	Het
Rpl12	A	G	2: 32,853,836 (GRCm39)	I155V	probably benign	Het
Scart2	A	T	7: 139,841,520 (GRCm39)	T275S	probably benign	Het
Senp5	C	T	16: 31,794,847 (GRCm39)	E596K	unknown	Het
Serpinb9d	A	G	13: 33,379,916 (GRCm39)	Y85C	probably benign	Het
Serpinf1	T	A	11: 75,307,142 (GRCm39)	Y65F	probably benign	Het
Snrnp200	G	A	2: 127,068,404 (GRCm39)		probably null	Het
Spatc1	A	T	15: 76,152,568 (GRCm39)	Q66L	probably benign	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Traf3ip1	A	G	1: 91,439,110 (GRCm39)	D342G	probably benign	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ube2j2	T	C	4: 156,041,788 (GRCm39)	V249A	probably damaging	Het
Utrn	A	C	10: 12,315,535 (GRCm39)	N3025K	possibly damaging	Het
Vmn1r17	T	A	6: 57,337,862 (GRCm39)	M168L	probably benign	Het
Vmn1r77	T	A	7: 11,775,694 (GRCm39)	S157T	probably benign	Het
Zfp977	A	G	7: 42,229,884 (GRCm39)	S214P	probably benign	Het
Zscan10	T	C	17: 23,828,979 (GRCm39)	L507P	possibly damaging	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
R9658:Apoa1	UTSW	9	46,141,280 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGACCACATCTGTGTTCTTGG -3'
(R):5'- AATTCGTCCAGGTAGGGCTG -3'

Sequencing Primer
(F):5'- TTCCGCCATGTGTACAGAG -3'
(R):5'- AGGTAGGGCTGCACCTTCTG -3'

Posted On

2019-12-20