Mutagenetix > Incidental Mutation

Incidental Mutation 'R6381:Apobec1'

515312

Institutional Source

Beutler Lab

Gene Symbol

Apobec1

Ensembl Gene

ENSMUSG00000040613

Gene Name

apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1

Synonyms

MMRRC Submission

044530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122554751-122579403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122555890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 189 (L189P)

Ref Sequence

ENSEMBL: ENSMUSP00000108206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112585] [ENSMUST00000112586] [ENSMUST00000112587] [ENSMUST00000203197] [ENSMUST00000203204] [ENSMUST00000203309]

AlphaFold

P51908

Predicted Effect

probably damaging
Transcript: ENSMUST00000112585
AA Change: L189P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108204
Gene: ENSMUSG00000040613
AA Change: L189P

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	15	181	3.6e-38	PFAM
Pfam:APOBEC_C	124	178	9.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112586
AA Change: L189P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108205
Gene: ENSMUSG00000040613
AA Change: L189P

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	15	181	3.6e-38	PFAM
Pfam:APOBEC_C	124	178	9.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112587
AA Change: L189P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108206
Gene: ENSMUSG00000040613
AA Change: L189P

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	21	177	1.7e-32	PFAM
Pfam:APOBEC_C	125	179	3.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203197

Predicted Effect

probably benign
Transcript: ENSMUST00000203204

SMART Domains

Protein: ENSMUSP00000145154
Gene: ENSMUSG00000040613

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	21	113	1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203309

SMART Domains

Protein: ENSMUSP00000145417
Gene: ENSMUSG00000040613

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	21	121	1.6e-17	PFAM

Meta Mutation Damage Score

0.4054

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal lipid homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,788 (GRCm39)	M365L	probably damaging	Het
Aars2	A	G	17: 45,829,471 (GRCm39)	E786G	probably benign	Het
Adamts12	G	T	15: 11,257,080 (GRCm39)	V478F	possibly damaging	Het
Akr1c21	T	A	13: 4,624,183 (GRCm39)	D12E	probably damaging	Het
Aplf	A	T	6: 87,635,959 (GRCm39)	M118K	probably damaging	Het
BC061237	A	G	14: 44,741,713 (GRCm39)	Q152R	possibly damaging	Het
Bche	A	G	3: 73,609,132 (GRCm39)	I98T	probably benign	Het
Cc2d2a	G	T	5: 43,873,118 (GRCm39)	R983L	possibly damaging	Het
Ccnd3	T	C	17: 47,816,149 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,944,435 (GRCm39)	C215F	probably damaging	Het
Cep97	C	T	16: 55,742,534 (GRCm39)	A138T	probably damaging	Het
Ces1e	T	A	8: 93,944,206 (GRCm39)	N204I	probably damaging	Het
Dicer1	T	C	12: 104,662,721 (GRCm39)	D1620G	probably benign	Het
Dnah17	A	G	11: 118,020,011 (GRCm39)	V12A	probably benign	Het
Dstyk	T	A	1: 132,384,503 (GRCm39)		probably null	Het
Elapor1	T	C	3: 108,389,130 (GRCm39)	K222E	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Entr1	A	G	2: 26,275,093 (GRCm39)		probably null	Het
Gm10570	G	T	4: 130,202,021 (GRCm39)		probably benign	Het
Gm7145	C	T	1: 117,913,669 (GRCm39)	Q184*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gtse1	G	A	15: 85,746,349 (GRCm39)	R55H	probably benign	Het
Hdac4	G	T	1: 91,912,247 (GRCm39)	Q381K	possibly damaging	Het
Ifit3b	T	C	19: 34,589,871 (GRCm39)	I349T	probably benign	Het
Inpp5a	A	T	7: 138,980,589 (GRCm39)	D9V	probably benign	Het
Irs1	T	C	1: 82,265,405 (GRCm39)	N937S	possibly damaging	Het
Kcna4	T	C	2: 107,125,317 (GRCm39)	M17T	probably benign	Het
Lipa	T	A	19: 34,502,146 (GRCm39)	M33L	probably benign	Het
Marchf6	G	T	15: 31,467,838 (GRCm39)	Q790K	probably benign	Het
Mccc1	G	A	3: 36,030,876 (GRCm39)	P397S	probably benign	Het
Mrgprb2	T	C	7: 48,202,138 (GRCm39)	I196V	probably benign	Het
Myh15	T	A	16: 48,921,844 (GRCm39)	S463R	probably damaging	Het
Nab2	T	C	10: 127,500,220 (GRCm39)	K291E	probably damaging	Het
Neto2	T	C	8: 86,369,138 (GRCm39)	T294A	probably damaging	Het
Nkx1-1	T	C	5: 33,591,320 (GRCm39)	M1V	probably null	Het
Or2h2	C	T	17: 37,396,977 (GRCm39)	V27I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Psmd2	A	G	16: 20,474,023 (GRCm39)	E242G	probably benign	Het
Rnase12	A	C	14: 51,294,551 (GRCm39)	Y43D	probably damaging	Het
Rpl18	T	A	7: 45,369,016 (GRCm39)	F58I	probably damaging	Het
Ryr1	T	G	7: 28,774,682 (GRCm39)	M2313L	possibly damaging	Het
Scn4a	G	T	11: 106,211,137 (GRCm39)	Q1627K	probably damaging	Het
Scnn1g	A	G	7: 121,366,722 (GRCm39)	S640G	probably benign	Het
Sdr9c7	T	A	10: 127,739,542 (GRCm39)	M219K	probably benign	Het
Soat1	A	T	1: 156,263,373 (GRCm39)	M392K	probably damaging	Het
Spata18	G	T	5: 73,832,559 (GRCm39)	K337N	probably damaging	Het
Supt16	A	G	14: 52,417,003 (GRCm39)	V325A	probably benign	Het
Syt2	A	G	1: 134,674,588 (GRCm39)	E342G	probably damaging	Het
Tars2	A	T	3: 95,661,799 (GRCm39)	L37*	probably null	Het
Tep1	T	C	14: 51,082,888 (GRCm39)	D1040G	probably damaging	Het
Tmc8	A	T	11: 117,682,426 (GRCm39)	S613C	probably null	Het
Top3a	C	T	11: 60,634,849 (GRCm39)	C660Y	probably damaging	Het
Tpsg1	C	T	17: 25,591,543 (GRCm39)	R48C	probably damaging	Het
Vmn2r57	T	C	7: 41,078,242 (GRCm39)	N72S	probably benign	Het
Whrn	G	A	4: 63,390,921 (GRCm39)	T269I	probably benign	Het
Zfp759	T	A	13: 67,286,969 (GRCm39)	Y173*	probably null	Het

Other mutations in Apobec1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01993:Apobec1	APN	6	122,565,138 (GRCm39)	splice site	probably benign
IGL02420:Apobec1	APN	6	122,558,531 (GRCm39)	missense	probably benign	0.00
R0523:Apobec1	UTSW	6	122,558,504 (GRCm39)	missense	probably damaging	1.00
R1570:Apobec1	UTSW	6	122,568,044 (GRCm39)	critical splice donor site	probably null
R1823:Apobec1	UTSW	6	122,555,845 (GRCm39)	missense	possibly damaging	0.77
R4572:Apobec1	UTSW	6	122,558,356 (GRCm39)	missense	probably damaging	0.99
R5050:Apobec1	UTSW	6	122,568,061 (GRCm39)	start codon destroyed	probably null	0.18
R5454:Apobec1	UTSW	6	122,558,327 (GRCm39)	missense	probably benign	0.30
R5642:Apobec1	UTSW	6	122,558,456 (GRCm39)	missense	probably damaging	1.00
R5898:Apobec1	UTSW	6	122,557,732 (GRCm39)	missense	probably damaging	1.00
R6736:Apobec1	UTSW	6	122,558,634 (GRCm39)	missense	probably null
R6894:Apobec1	UTSW	6	122,568,201 (GRCm39)	intron	probably benign
R7488:Apobec1	UTSW	6	122,558,521 (GRCm39)	missense	possibly damaging	0.63
R8083:Apobec1	UTSW	6	122,555,888 (GRCm39)	missense	probably damaging	1.00
R9087:Apobec1	UTSW	6	122,558,700 (GRCm39)	nonsense	probably null
R9112:Apobec1	UTSW	6	122,555,837 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTAGATTCTTCATGGCAGTCACTC -3'
(R):5'- TGTTTCCCACAGTGGAAGAGATC -3'

Sequencing Primer
(F):5'- ACTCTTTAGTGGGTCATCAATGC -3'
(R):5'- CAGTGGAAGAGATCAGTCACACTAC -3'

Posted On

2018-05-04