Mutagenetix > Incidental Mutation

Incidental Mutation 'R6894:Apobec1'

538214

Institutional Source

Beutler Lab

Gene Symbol

Apobec1

Ensembl Gene

ENSMUSG00000040613

Gene Name

apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1

Synonyms

MMRRC Submission

044988-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6894 (G1)

Quality Score

134.008

Status

Not validated

Chromosome

Chromosomal Location

122554751-122579403 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 122568201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112585] [ENSMUST00000112586] [ENSMUST00000112587] [ENSMUST00000147760] [ENSMUST00000203197] [ENSMUST00000203204] [ENSMUST00000203309]

AlphaFold

P51908

Predicted Effect

probably benign
Transcript: ENSMUST00000112585

SMART Domains

Protein: ENSMUSP00000108204
Gene: ENSMUSG00000040613

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 benign
Transcript: ENSMUST00000112586

SMART Domains

Protein: ENSMUSP00000108205
Gene: ENSMUSG00000040613

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 benign
Transcript: ENSMUST00000112587

SMART Domains

Protein: ENSMUSP00000108206
Gene: ENSMUSG00000040613

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: ENSMUST00000147760

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	C	A	2: 151,315,227 (GRCm39)	L150F	probably damaging	Het
4930449I24Rik	G	A	5: 146,441,542 (GRCm39)	E230K	possibly damaging	Het
4930449I24Rik	A	T	5: 146,441,543 (GRCm39)	E230V	probably benign	Het
9430038I01Rik	A	G	7: 136,989,117 (GRCm39)	C93R	possibly damaging	Het
Aoc1l2	G	A	6: 48,907,596 (GRCm39)	A199T	probably damaging	Het
Arl4c	T	A	1: 88,629,097 (GRCm39)	D97V	probably damaging	Het
Ash1l	A	G	3: 88,890,298 (GRCm39)	T726A	probably benign	Het
Asz1	A	C	6: 18,055,520 (GRCm39)	F359V	probably damaging	Het
Atr	T	A	9: 95,809,250 (GRCm39)	L1970H	probably damaging	Het
Baz2a	G	T	10: 127,959,450 (GRCm39)	A1322S	possibly damaging	Het
Cd209e	T	A	8: 3,903,569 (GRCm39)	I37F	possibly damaging	Het
Cd209f	T	C	8: 4,155,477 (GRCm39)	K37R	probably benign	Het
Cd5	G	C	19: 10,716,203 (GRCm39)	S3C	possibly damaging	Het
Clec16a	A	T	16: 10,462,718 (GRCm39)	I260F	probably damaging	Het
Cltc	A	T	11: 86,603,428 (GRCm39)	Y799*	probably null	Het
Cplane1	T	C	15: 8,216,852 (GRCm39)	L690P	probably damaging	Het
Csde1	G	A	3: 102,951,972 (GRCm39)	V258I	possibly damaging	Het
Dennd5a	G	T	7: 109,500,325 (GRCm39)	H909Q	probably damaging	Het
Dnah12	A	G	14: 26,456,904 (GRCm39)	D890G	probably damaging	Het
Dnah2	A	T	11: 69,375,086 (GRCm39)	M1379K	probably benign	Het
Dpp10	A	T	1: 123,264,593 (GRCm39)	I743N	probably damaging	Het
Dpp9	T	A	17: 56,495,321 (GRCm39)	T815S	probably damaging	Het
Ears2	T	C	7: 121,647,447 (GRCm39)	N279S	probably damaging	Het
Ect2l	A	G	10: 18,045,128 (GRCm39)		probably null	Het
Eomes	C	G	9: 118,310,353 (GRCm39)	P288A	probably damaging	Het
Fat3	T	C	9: 15,909,072 (GRCm39)	D2310G	probably damaging	Het
Fignl2	T	C	15: 100,951,854 (GRCm39)	T143A	probably benign	Het
Gdf9	A	G	11: 53,327,646 (GRCm39)	K201E	possibly damaging	Het
Gfra3	C	T	18: 34,828,710 (GRCm39)	R228Q	probably damaging	Het
Grin1	A	T	2: 25,185,829 (GRCm39)	V876E	probably damaging	Het
Igkv12-41	A	C	6: 69,835,635 (GRCm39)	V39G	probably damaging	Het
Kat7	A	T	11: 95,174,910 (GRCm39)	M367K	possibly damaging	Het
Ly6d	T	C	15: 74,634,654 (GRCm39)	K33E	possibly damaging	Het
Lztfl1	T	C	9: 123,529,998 (GRCm39)	N273S	possibly damaging	Het
Macf1	T	A	4: 123,377,480 (GRCm39)	I1485F	possibly damaging	Het
Marchf10	G	T	11: 105,287,787 (GRCm39)	L172I	possibly damaging	Het
Mdn1	T	G	4: 32,748,614 (GRCm39)	S4220A	possibly damaging	Het
Muc16	A	G	9: 18,406,872 (GRCm39)	V8460A	possibly damaging	Het
Myh14	A	G	7: 44,282,936 (GRCm39)	F769L	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk4	A	G	13: 32,905,998 (GRCm39)	L395P	probably damaging	Het
Nat8f6	A	T	6: 85,785,504 (GRCm39)	L215*	probably null	Het
Nell2	T	C	15: 95,244,768 (GRCm39)	D443G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,632 (GRCm39)	K197R	probably benign	Het
Nt5c3	A	T	6: 56,859,958 (GRCm39)	L293*	probably null	Het
Ntrk1	A	T	3: 87,690,109 (GRCm39)	V429D	probably damaging	Het
Obscn	A	G	11: 59,023,508 (GRCm39)	V623A	probably benign	Het
Or2o1	T	C	11: 49,051,186 (GRCm39)	F115S	probably benign	Het
Or4c1	A	G	2: 89,133,837 (GRCm39)	L33S	probably damaging	Het
Or5ac21	A	G	16: 59,124,142 (GRCm39)	T209A	probably damaging	Het
Or5p5	C	T	7: 107,414,271 (GRCm39)	T160I	probably benign	Het
Or6c74	T	C	10: 129,870,178 (GRCm39)	S228P	probably damaging	Het
Or8k22	A	T	2: 86,163,295 (GRCm39)	I135N	probably damaging	Het
Pate3	T	A	9: 35,557,969 (GRCm39)	D33V	probably damaging	Het
Pcnx1	T	A	12: 82,034,747 (GRCm39)	I1843N	probably damaging	Het
Pla2g4f	A	T	2: 120,134,077 (GRCm39)	I503N	probably benign	Het
Prkg1	C	A	19: 30,602,174 (GRCm39)	E361*	probably null	Het
Proca1	A	G	11: 78,085,613 (GRCm39)		probably benign	Het
Prss38	G	T	11: 59,263,850 (GRCm39)	H287Q	probably benign	Het
Ptpdc1	T	C	13: 48,744,114 (GRCm39)	E169G	probably benign	Het
Ptpn21	T	C	12: 98,681,440 (GRCm39)	S65G	probably damaging	Het
Rfx6	A	T	10: 51,592,135 (GRCm39)	H177L	probably damaging	Het
Slc20a2	G	A	8: 23,050,609 (GRCm39)	G276D	possibly damaging	Het
Spag6l	A	T	16: 16,601,802 (GRCm39)	L159I	probably damaging	Het
Spata31f1a	G	A	4: 42,850,291 (GRCm39)	P622S	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Stk33	T	A	7: 108,935,269 (GRCm39)	E174D	possibly damaging	Het
Stxbp5	A	T	10: 9,660,105 (GRCm39)	V730E	probably benign	Het
Tmprss15	A	T	16: 78,872,702 (GRCm39)	L168*	probably null	Het
Tnrc18	A	T	5: 142,745,804 (GRCm39)	M1323K	unknown	Het
Tpr	T	C	1: 150,312,598 (GRCm39)	V1932A	probably benign	Het
Trak2	A	G	1: 58,950,892 (GRCm39)	S432P	probably damaging	Het
Ttn	A	T	2: 76,738,534 (GRCm39)	F4002I	probably benign	Het
Txndc11	G	A	16: 10,906,009 (GRCm39)	T507I	probably damaging	Het
Usp12	G	A	5: 146,691,349 (GRCm39)	T135I	possibly damaging	Het
Vit	T	A	17: 78,934,187 (GRCm39)	Y596*	probably null	Het
Vmn1r32	A	T	6: 66,530,345 (GRCm39)	Y144N	possibly damaging	Het
Vmn2r80	G	T	10: 79,005,438 (GRCm39)	L358F	probably benign	Het
Zfp382	T	G	7: 29,825,261 (GRCm39)	S38A	probably benign	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
R6381:Apobec1	UTSW	6	122,555,890 (GRCm39)	missense	probably damaging	1.00
R6736:Apobec1	UTSW	6	122,558,634 (GRCm39)	missense	probably null
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'- AGAACCCGGCATCCCTTTAC -3'
(R):5'- GGAACAGCTTCATTCTCTCCG -3'

Sequencing Primer
(F):5'- ACCTGTCTCGGAACTCATCTTG -3'
(R):5'- CACTCTTACTTGAGCCTGAAGGAAG -3'

Posted On

2018-11-06