Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6894 (G1)

Quality Score

134.008

Status

Not validated

Chromosome

Chromosomal Location

122577792-122602444 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 122591242 bp

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]

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
1600015I10Rik	G	A	6: 48,930,662	A199T	probably damaging	Het
2410089E03Rik	T	C	15: 8,187,368	L690P	probably damaging	Het
4921509C19Rik	C	A	2: 151,473,307	L150F	probably damaging	Het
4930449I24Rik	G	A	5: 146,504,732	E230K	possibly damaging	Het
4930449I24Rik	A	T	5: 146,504,733	E230V	probably benign	Het
9430038I01Rik	A	G	7: 137,387,388	C93R	possibly damaging	Het
Arl4c	T	A	1: 88,701,375	D97V	probably damaging	Het
Ash1l	A	G	3: 88,982,991	T726A	probably benign	Het
Asz1	A	C	6: 18,055,521	F359V	probably damaging	Het
Atr	T	A	9: 95,927,197	L1970H	probably damaging	Het
Baz2a	G	T	10: 128,123,581	A1322S	possibly damaging	Het
Cd209e	T	A	8: 3,853,569	I37F	possibly damaging	Het
Cd209f	T	C	8: 4,105,477	K37R	probably benign	Het
Cd5	G	C	19: 10,738,839	S3C	possibly damaging	Het
Clec16a	A	T	16: 10,644,854	I260F	probably damaging	Het
Cltc	A	T	11: 86,712,602	Y799*	probably null	Het
Csde1	G	A	3: 103,044,656	V258I	possibly damaging	Het
Dennd5a	G	T	7: 109,901,118	H909Q	probably damaging	Het
Dnah12	A	G	14: 26,735,749	D890G	probably damaging	Het
Dnah2	A	T	11: 69,484,260	M1379K	probably benign	Het
Dpp10	A	T	1: 123,336,864	I743N	probably damaging	Het
Dpp9	T	A	17: 56,188,321	T815S	probably damaging	Het
Ears2	T	C	7: 122,048,224	N279S	probably damaging	Het
Ect2l	A	G	10: 18,169,380		probably null	Het
Eomes	C	G	9: 118,481,285	P288A	probably damaging	Het
Fam205a1	G	A	4: 42,850,291	P622S	probably benign	Het
Fat3	T	C	9: 15,997,776	D2310G	probably damaging	Het
Fignl2	T	C	15: 101,053,973	T143A	probably benign	Het
Gdf9	A	G	11: 53,436,819	K201E	possibly damaging	Het
Gfra3	C	T	18: 34,695,657	R228Q	probably damaging	Het
Grin1	A	T	2: 25,295,817	V876E	probably damaging	Het
Igkv12-41	A	C	6: 69,858,651	V39G	probably damaging	Het
Kat7	A	T	11: 95,284,084	M367K	possibly damaging	Het
Ly6d	T	C	15: 74,762,805	K33E	possibly damaging	Het
Lztfl1	T	C	9: 123,700,933	N273S	possibly damaging	Het
Macf1	T	A	4: 123,483,687	I1485F	possibly damaging	Het
March10	G	T	11: 105,396,961	L172I	possibly damaging	Het
Mdn1	T	G	4: 32,748,614	S4220A	possibly damaging	Het
Muc16	A	G	9: 18,495,576	V8460A	possibly damaging	Het
Myh14	A	G	7: 44,633,512	F769L	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk4	A	G	13: 32,722,015	L395P	probably damaging	Het
Nat8f6	A	T	6: 85,808,522	L215*	probably null	Het
Nell2	T	C	15: 95,346,887	D443G	probably damaging	Het
Nkx6-3	A	G	8: 23,157,616	K197R	probably benign	Het
Nt5c3	A	T	6: 56,882,973	L293*	probably null	Het
Ntrk1	A	T	3: 87,782,802	V429D	probably damaging	Het
Obscn	A	G	11: 59,132,682	V623A	probably benign	Het
Olfr1054	A	T	2: 86,332,951	I135N	probably damaging	Het
Olfr1231	A	G	2: 89,303,493	L33S	probably damaging	Het
Olfr1394	T	C	11: 49,160,359	F115S	probably benign	Het
Olfr203	A	G	16: 59,303,779	T209A	probably damaging	Het
Olfr467	C	T	7: 107,815,064	T160I	probably benign	Het
Olfr821	T	C	10: 130,034,309	S228P	probably damaging	Het
Pate3	T	A	9: 35,646,673	D33V	probably damaging	Het
Pcnx	T	A	12: 81,987,973	I1843N	probably damaging	Het
Pla2g4f	A	T	2: 120,303,596	I503N	probably benign	Het
Prkg1	C	A	19: 30,624,774	E361*	probably null	Het
Proca1	A	G	11: 78,194,787		probably benign	Het
Prss38	G	T	11: 59,373,024	H287Q	probably benign	Het
Ptpdc1	T	C	13: 48,590,638	E169G	probably benign	Het
Ptpn21	T	C	12: 98,715,181	S65G	probably damaging	Het
Rfx6	A	T	10: 51,716,039	H177L	probably damaging	Het
Slc20a2	G	A	8: 22,560,593	G276D	possibly damaging	Het
Spag6l	A	T	16: 16,783,938	L159I	probably damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Stk33	T	A	7: 109,336,062	E174D	possibly damaging	Het
Stxbp5	A	T	10: 9,784,361	V730E	probably benign	Het
Tmprss15	A	T	16: 79,075,814	L168*	probably null	Het
Tnrc18	A	T	5: 142,760,049	M1323K	unknown	Het
Tpr	T	C	1: 150,436,847	V1932A	probably benign	Het
Trak2	A	G	1: 58,911,733	S432P	probably damaging	Het
Ttn	A	T	2: 76,908,190	F4002I	probably benign	Het
Txndc11	G	A	16: 11,088,145	T507I	probably damaging	Het
Usp12	G	A	5: 146,754,539	T135I	possibly damaging	Het
Vit	T	A	17: 78,626,758	Y596*	probably null	Het
Vmn1r32	A	T	6: 66,553,361	Y144N	possibly damaging	Het
Vmn2r80	G	T	10: 79,169,604	L358F	probably benign	Het
Zfp382	T	G	7: 30,125,836	S38A	probably benign	Het

Other mutations in Apobec1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01993:Apobec1	APN	6	122588179	splice site	probably benign
IGL02420:Apobec1	APN	6	122581572	missense	probably benign	0.00
R0523:Apobec1	UTSW	6	122581545	missense	probably damaging	1.00
R1570:Apobec1	UTSW	6	122591085	critical splice donor site	probably null
R1823:Apobec1	UTSW	6	122578886	missense	possibly damaging	0.77
R4572:Apobec1	UTSW	6	122581397	missense	probably damaging	0.99
R5050:Apobec1	UTSW	6	122591102	start codon destroyed	probably null	0.18
R5454:Apobec1	UTSW	6	122581368	missense	probably benign	0.30
R5642:Apobec1	UTSW	6	122581497	missense	probably damaging	1.00
R5898:Apobec1	UTSW	6	122580773	missense	probably damaging	1.00
R6381:Apobec1	UTSW	6	122578931	missense	probably damaging	1.00
R6736:Apobec1	UTSW	6	122581675	missense	probably null
R7488:Apobec1	UTSW	6	122581562	missense	possibly damaging	0.63
R8083:Apobec1	UTSW	6	122578929	missense	probably damaging	1.00

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