Mutagenetix > Incidental Mutation

Incidental Mutation 'R5898:Apobec1'

457650

Institutional Source

Beutler Lab

Gene Symbol

Apobec1

Ensembl Gene

ENSMUSG00000040613

Gene Name

apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1

Synonyms

MMRRC Submission

044097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122554751-122579403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122557732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 159 (Y159C)

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: Y159C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108204
Gene: ENSMUSG00000040613
AA Change: Y159C

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: Y159C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108205
Gene: ENSMUSG00000040613
AA Change: Y159C

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: Y159C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108206
Gene: ENSMUSG00000040613
AA Change: Y159C

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

0.2403

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (86/90)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,448,762 (GRCm39)	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,451,070 (GRCm39)	M179I	probably benign	Het
Abhd12	T	C	2: 150,681,698 (GRCm39)	I231V	possibly damaging	Het
Adsl	A	G	15: 80,845,554 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,991,131 (GRCm39)	N4138K	possibly damaging	Het
Ahnak	T	C	19: 8,995,575 (GRCm39)	S5620P	probably damaging	Het
Akap13	C	T	7: 75,378,894 (GRCm39)	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,440,694 (GRCm39)	Q700L	probably damaging	Het
Atg9a	T	C	1: 75,162,916 (GRCm39)	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,957 (GRCm39)	I48V	probably benign	Het
BC051665	A	C	13: 60,930,518 (GRCm39)	V278G	probably damaging	Het
Bicd1	A	T	6: 149,415,201 (GRCm39)	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,251,192 (GRCm39)	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,094,538 (GRCm39)	R496L	probably benign	Het
Cdcp3	T	G	7: 130,843,696 (GRCm39)		probably null	Het
Cep44	C	G	8: 56,994,056 (GRCm39)	V174L	probably damaging	Het
Clca3a1	G	T	3: 144,722,522 (GRCm39)	F283L	possibly damaging	Het
Csk	T	C	9: 57,537,585 (GRCm39)	T110A	probably benign	Het
Cspg4	T	A	9: 56,792,506 (GRCm39)		probably null	Het
Cutc	A	G	19: 43,748,468 (GRCm39)	I124V	probably benign	Het
Cyp2d9	A	G	15: 82,339,725 (GRCm39)	T104A	probably benign	Het
Cyp2j9	G	T	4: 96,465,951 (GRCm39)	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,046,577 (GRCm39)		probably null	Het
Dcaf15	G	T	8: 84,825,081 (GRCm39)	F450L	probably damaging	Het
Ddhd1	A	T	14: 45,840,125 (GRCm39)	I723K	probably damaging	Het
Dnah17	C	T	11: 118,005,039 (GRCm39)	A782T	probably benign	Het
Dnah3	T	C	7: 119,677,724 (GRCm39)	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717 (GRCm39)	N909S	probably benign	Het
Erbin	A	G	13: 103,975,813 (GRCm39)		probably null	Het
Fanci	G	A	7: 79,083,069 (GRCm39)	V682I	probably benign	Het
Fap	A	T	2: 62,403,847 (GRCm39)	F9L	probably benign	Het
Fat3	T	C	9: 15,849,757 (GRCm39)	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,244,294 (GRCm39)		probably null	Het
Fsd2	T	C	7: 81,186,975 (GRCm39)	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,599,468 (GRCm39)		noncoding transcript	Het
Gramd4	G	T	15: 85,984,985 (GRCm39)	G82V	probably damaging	Het
Hc	C	T	2: 34,887,449 (GRCm39)	V1352I	probably benign	Het
Hsph1	A	T	5: 149,548,623 (GRCm39)	N466K	probably damaging	Het
Ice2	T	A	9: 69,315,544 (GRCm39)	D133E	probably benign	Het
Ifi213	T	C	1: 173,396,545 (GRCm39)	M510V	probably benign	Het
Itpkb	T	G	1: 180,248,880 (GRCm39)	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476 (GRCm39)	D283E	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Masp1	T	A	16: 23,310,677 (GRCm39)	I252F	probably damaging	Het
Megf11	G	T	9: 64,593,246 (GRCm39)	C586F	probably damaging	Het
Myh2	C	A	11: 67,083,545 (GRCm39)	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,950,196 (GRCm39)		probably null	Het
Naip6	A	T	13: 100,435,829 (GRCm39)	V898E	possibly damaging	Het
Nav1	T	C	1: 135,512,884 (GRCm39)	M59V	probably benign	Het
Nlrp3	A	T	11: 59,437,678 (GRCm39)	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,600,758 (GRCm39)	I77N	possibly damaging	Het
Pcdhb8	T	A	18: 37,490,537 (GRCm39)	D738E	possibly damaging	Het
Pdia5	A	T	16: 35,243,335 (GRCm39)	W269R	probably damaging	Het
Peak1	T	A	9: 56,114,622 (GRCm39)	T1440S	probably benign	Het
Piezo1	A	G	8: 123,214,682 (GRCm39)	V1547A	probably benign	Het
Pkp1	T	C	1: 135,810,259 (GRCm39)	Y437C	probably damaging	Het
Pla2r1	T	C	2: 60,253,104 (GRCm39)	D1329G	probably damaging	Het
Ppip5k2	T	C	1: 97,671,887 (GRCm39)		probably benign	Het
Prrg4	C	T	2: 104,675,378 (GRCm39)	S75N	probably benign	Het
Psmb9	T	A	17: 34,401,266 (GRCm39)	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,399,405 (GRCm39)	L23*	probably null	Het
Sbno1	A	T	5: 124,524,854 (GRCm39)		probably benign	Het
Scn3a	T	C	2: 65,345,039 (GRCm39)	E483G	probably damaging	Het
Sdccag8	T	A	1: 176,652,388 (GRCm39)	D46E	probably benign	Het
Selenov	A	G	7: 27,987,579 (GRCm39)	F293L	probably damaging	Het
Septin2	A	C	1: 93,407,023 (GRCm39)	D20A	probably benign	Het
Shc1	T	A	3: 89,334,274 (GRCm39)	Y313*	probably null	Het
Siglec1	T	A	2: 130,915,553 (GRCm39)	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,764,559 (GRCm39)	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,365,123 (GRCm39)	N152S	probably damaging	Het
Smoc1	C	T	12: 81,151,531 (GRCm39)	R83*	probably null	Het
Ssx2ip	A	G	3: 146,133,586 (GRCm39)	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,567,372 (GRCm39)	D576G	probably damaging	Het
Tbx20	T	A	9: 24,670,155 (GRCm39)	Y226F	probably damaging	Het
Trav10d	G	T	14: 53,048,929 (GRCm39)	A107S	probably damaging	Het
Trim60	A	T	8: 65,453,016 (GRCm39)	L411*	probably null	Het
Ttbk2	A	T	2: 120,575,521 (GRCm39)	V1083D	probably benign	Het
Unc93a	T	A	17: 13,344,464 (GRCm39)	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819 (GRCm39)	N65I	possibly damaging	Het
Vip	A	T	10: 5,593,988 (GRCm39)	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,534,813 (GRCm39)	I179F	probably damaging	Het
Wdr47	T	A	3: 108,545,201 (GRCm39)		probably null	Het
Zfp975	A	T	7: 42,311,963 (GRCm39)	C217S	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
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
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'- TCGACTACCTAGTAAATTCAAGGAC -3'
(R):5'- AGCATACCCGGGAGACAATC -3'

Sequencing Primer
(F):5'- ATTCAAGGACAGCCTAGACTG -3'
(R):5'- GGGAGACAATCTCTCTACTACTGAG -3'

Posted On

2017-02-15