Mutagenetix > Incidental Mutation

Incidental Mutation 'R5050:Apobec1'

394590

Institutional Source

Beutler Lab

Gene Symbol

Apobec1

Ensembl Gene

ENSMUSG00000040613

Gene Name

apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1

Synonyms

MMRRC Submission

042640-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122554751-122579403 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 122568061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000145417 (fasta)

Gene Model

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

AlphaFold

P51908

Predicted Effect

probably null
Transcript: ENSMUST00000112585
AA Change: M1V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108204
Gene: ENSMUSG00000040613
AA Change: M1V

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 null
Transcript: ENSMUST00000112586
AA Change: M1V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108205
Gene: ENSMUSG00000040613
AA Change: M1V

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 null
Transcript: ENSMUST00000112587
AA Change: M1V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108206
Gene: ENSMUSG00000040613
AA Change: M1V

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 null
Transcript: ENSMUST00000112587
AA Change: M1V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108206
Gene: ENSMUSG00000040613
AA Change: M1V

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

noncoding transcript
Transcript: ENSMUST00000143356

Predicted Effect

probably null
Transcript: ENSMUST00000147760
AA Change: M1V

Predicted Effect

probably null
Transcript: ENSMUST00000203197
AA Change: M1V

Predicted Effect

probably null
Transcript: ENSMUST00000203197
AA Change: M1V

Predicted Effect

probably null
Transcript: ENSMUST00000203204
AA Change: M1V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145154
Gene: ENSMUSG00000040613
AA Change: M1V

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

Predicted Effect

probably null
Transcript: ENSMUST00000203204
AA Change: M1V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145154
Gene: ENSMUSG00000040613
AA Change: M1V

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

Predicted Effect

probably null
Transcript: ENSMUST00000203309
AA Change: M1V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145417
Gene: ENSMUSG00000040613
AA Change: M1V

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

Predicted Effect

probably null
Transcript: ENSMUST00000203309
AA Change: M1V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145417
Gene: ENSMUSG00000040613
AA Change: M1V

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

Meta Mutation Damage Score

0.9551

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,822 (GRCm39)		probably benign	Het
Ap3m1	A	G	14: 21,094,843 (GRCm39)	I108T	probably benign	Het
Aqr	A	T	2: 113,943,090 (GRCm39)	L1161*	probably null	Het
Aqr	A	T	2: 114,000,506 (GRCm39)		probably null	Het
Arhgef37	A	G	18: 61,637,402 (GRCm39)	I420T	probably benign	Het
Cacna1g	C	T	11: 94,350,541 (GRCm39)	E435K	probably damaging	Het
Card6	G	T	15: 5,129,858 (GRCm39)	H513N	probably benign	Het
Ccdc158	A	C	5: 92,814,738 (GRCm39)	F29L	probably benign	Het
Ccr6	T	C	17: 8,474,936 (GRCm39)	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 179,900,018 (GRCm39)	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654 (GRCm39)	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,233 (GRCm39)	F16S	probably benign	Het
Cdkl1	T	C	12: 69,804,014 (GRCm39)	K141R	probably damaging	Het
Cfhr4	T	A	1: 139,664,578 (GRCm39)	I494F	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,704,184 (GRCm39)	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,922,500 (GRCm39)	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,536,255 (GRCm39)	D2596A	probably benign	Het
Dync1li2	T	C	8: 105,164,073 (GRCm39)	K151E	probably damaging	Het
Eno4	C	T	19: 58,943,928 (GRCm39)	H297Y	probably benign	Het
Epg5	T	A	18: 78,019,156 (GRCm39)	D976E	possibly damaging	Het
Fhip2a	T	A	19: 57,371,602 (GRCm39)	F571L	probably damaging	Het
Gm4553	C	A	7: 141,718,773 (GRCm39)	K218N	unknown	Het
Gpld1	A	T	13: 25,146,739 (GRCm39)	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,252,567 (GRCm39)		probably benign	Het
Gucy2g	T	C	19: 55,229,367 (GRCm39)	E101G	probably benign	Het
Gvin3	T	C	7: 106,196,179 (GRCm39)		noncoding transcript	Het
Hira	G	A	16: 18,744,609 (GRCm39)	R442K	possibly damaging	Het
Hrh3	A	G	2: 179,742,350 (GRCm39)	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,248,176 (GRCm39)	F95Y	probably damaging	Het
Iqgap3	T	G	3: 87,997,493 (GRCm39)	V223G	probably damaging	Het
Itpk1	T	C	12: 102,671,069 (GRCm39)	T3A	probably damaging	Het
Jag1	A	G	2: 136,927,074 (GRCm39)	V895A	possibly damaging	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Large2	A	T	2: 92,198,124 (GRCm39)	L282Q	probably benign	Het
Lgmn	A	G	12: 102,369,680 (GRCm39)		probably null	Het
Lrp4	A	T	2: 91,322,767 (GRCm39)	I1119F	probably benign	Het
Map3k19	T	C	1: 127,751,299 (GRCm39)	H684R	probably benign	Het
Mier3	C	T	13: 111,851,107 (GRCm39)	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,213,685 (GRCm39)	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,929,932 (GRCm39)	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,473,670 (GRCm39)	I1568V	probably benign	Het
Or52e8b	T	A	7: 104,673,594 (GRCm39)	I198F	probably damaging	Het
Plch2	C	T	4: 155,127,766 (GRCm39)		probably benign	Het
Plek	T	C	11: 16,945,216 (GRCm39)	D38G	probably damaging	Het
Polr2f	A	G	15: 79,028,862 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,685,645 (GRCm39)	S38P	probably benign	Het
Sf1	C	T	19: 6,422,589 (GRCm39)	T248I	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Sharpin	A	T	15: 76,232,530 (GRCm39)	L160H	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Syn3	T	C	10: 86,243,532 (GRCm39)	T136A	probably benign	Het
Tcam1	G	A	11: 106,176,278 (GRCm39)	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,120,325 (GRCm39)	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,544,995 (GRCm39)	L2337P	probably damaging	Het
Ttn	G	A	2: 76,715,155 (GRCm39)		probably benign	Het
Tysnd1	T	A	10: 61,532,050 (GRCm39)	I234N	probably damaging	Het
Vmn2r51	T	C	7: 9,834,349 (GRCm39)	K230E	probably damaging	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
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
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'- TGCACTCTTCAAGACCACAG -3'
(R):5'- GGAGGACAAATATCCAGATGCC -3'

Sequencing Primer
(F):5'- CAGGCGTTTGTATTCCGAGACAC -3'
(R):5'- GAGGACAAATATCCAGATGCCACTTC -3'

Posted On

2016-06-15