Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02529:Apobec3'

297254

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apobec3

Ensembl Gene

ENSMUSG00000009585

Gene Name

apolipoprotein B mRNA editing enzyme, catalytic polypeptide 3

Synonyms

Rfv-3, Gm20117, Rfv3, CEM15

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02529

Quality Score

Status

Chromosome

Chromosomal Location

79775860-79800107 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 79781888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023054] [ENSMUST00000109620] [ENSMUST00000165537] [ENSMUST00000175714] [ENSMUST00000175752] [ENSMUST00000177098] [ENSMUST00000177483] [ENSMUST00000176325] [ENSMUST00000177006] [ENSMUST00000176904] [ENSMUST00000177350] [ENSMUST00000176868] [ENSMUST00000230741] [ENSMUST00000230135]

AlphaFold

Q99J72

Predicted Effect

probably benign
Transcript: ENSMUST00000023054

SMART Domains

Protein: ENSMUSP00000023054
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	1	99	6.5e-22	PFAM
Pfam:APOBEC_C	37	91	2.8e-23	PFAM
Pfam:APOBEC_N	106	276	4.4e-28	PFAM
Pfam:APOBEC_C	215	268	1.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109620

SMART Domains

Protein: ENSMUSP00000105249
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	21	198	6.5e-37	PFAM
Pfam:APOBEC_C	136	190	4.9e-23	PFAM
low complexity region	203	213	N/A	INTRINSIC
Pfam:APOBEC_N	238	408	1.1e-27	PFAM
Pfam:APOBEC_C	347	400	2.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165537

SMART Domains

Protein: ENSMUSP00000132391
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	21	198	5.4e-37	PFAM
Pfam:APOBEC_C	136	190	4.3e-23	PFAM
Pfam:APOBEC_N	205	375	9e-28	PFAM
Pfam:APOBEC_C	314	367	2.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175714

SMART Domains

Protein: ENSMUSP00000135027
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	37	206	1.1e-57	PFAM
Pfam:APOBEC_C	148	199	2e-22	PFAM
low complexity region	214	224	N/A	INTRINSIC
Pfam:APOBEC_N	253	416	7.6e-33	PFAM
Pfam:APOBEC_C	359	409	3.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175752

SMART Domains

Protein: ENSMUSP00000135358
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	32	209	7.9e-37	PFAM
Pfam:APOBEC_C	147	201	6.3e-23	PFAM
Pfam:APOBEC_N	216	386	1.3e-27	PFAM
Pfam:APOBEC_C	325	378	3.3e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176823

Predicted Effect

probably benign
Transcript: ENSMUST00000177098

SMART Domains

Protein: ENSMUSP00000135079
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	31	209	6.8e-37	PFAM
Pfam:APOBEC_C	147	201	6e-23	PFAM
Pfam:APOBEC_N	216	386	1.2e-27	PFAM
Pfam:APOBEC_C	325	378	3.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177483

SMART Domains

Protein: ENSMUSP00000135011
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	1	99	1.3e-22	PFAM
Pfam:APOBEC_C	37	91	8.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176325

SMART Domains

Protein: ENSMUSP00000134838
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	32	209	9e-37	PFAM
Pfam:APOBEC_C	147	201	6.8e-23	PFAM
low complexity region	214	224	N/A	INTRINSIC
Pfam:APOBEC_N	249	419	1.5e-27	PFAM
Pfam:APOBEC_C	358	411	3.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177006

Predicted Effect

probably benign
Transcript: ENSMUST00000176904

SMART Domains

Protein: ENSMUSP00000135502
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	1	84	7.4e-21	PFAM
Pfam:APOBEC_C	37	85	2.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177350

SMART Domains

Protein: ENSMUSP00000134938
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	1	99	1.6e-22	PFAM
Pfam:APOBEC_C	37	91	9.8e-24	PFAM
low complexity region	104	114	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176644

Predicted Effect

probably benign
Transcript: ENSMUST00000176868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230175

Predicted Effect

probably benign
Transcript: ENSMUST00000230741

Predicted Effect

probably benign
Transcript: ENSMUST00000230135

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele display more rapid and extensive spread of viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,190 (GRCm39)	H925L	probably benign	Het
Agpat5	T	A	8: 18,931,770 (GRCm39)	Y297N	possibly damaging	Het
Atpaf1	C	A	4: 115,648,466 (GRCm39)	A161E	probably damaging	Het
Bnc1	A	T	7: 81,627,116 (GRCm39)	D91E	probably damaging	Het
Capg	G	A	6: 72,532,829 (GRCm39)	V98I	probably benign	Het
Ccdc7b	C	T	8: 129,904,706 (GRCm39)	L115F	possibly damaging	Het
Ces2a	T	A	8: 105,463,851 (GRCm39)		probably benign	Het
Cldn6	T	G	17: 23,900,291 (GRCm39)	V85G	probably damaging	Het
Clec2e	T	C	6: 129,075,459 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dhx38	T	C	8: 110,285,645 (GRCm39)	E396G	probably benign	Het
Dock8	A	T	19: 25,078,290 (GRCm39)	K532*	probably null	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Gmip	G	A	8: 70,269,439 (GRCm39)	G537E	probably damaging	Het
Hacd1	T	C	2: 14,050,013 (GRCm39)	H64R	probably damaging	Het
Hdac3	G	T	18: 38,077,185 (GRCm39)	Q230K	probably benign	Het
Htt	C	T	5: 34,976,387 (GRCm39)		probably benign	Het
Il18r1	A	G	1: 40,526,219 (GRCm39)	D255G	possibly damaging	Het
Krt82	T	A	15: 101,458,831 (GRCm39)	R70*	probably null	Het
Krt9	G	T	11: 100,080,792 (GRCm39)	H353Q	probably damaging	Het
Kyat3	T	C	3: 142,426,235 (GRCm39)	I57T	probably benign	Het
L1td1	A	G	4: 98,625,658 (GRCm39)	K618E	probably benign	Het
Limch1	C	A	5: 67,159,956 (GRCm39)	N617K	possibly damaging	Het
Lsm8	T	C	6: 18,851,651 (GRCm39)	F34S	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Mmrn2	C	A	14: 34,120,570 (GRCm39)	A480E	possibly damaging	Het
Mthfd1	A	G	12: 76,350,483 (GRCm39)	I474V	probably benign	Het
Mycl	A	G	4: 122,890,770 (GRCm39)	K152R	probably damaging	Het
Numa1	A	G	7: 101,649,160 (GRCm39)		probably null	Het
Or5p54	G	T	7: 107,554,423 (GRCm39)	V192F	possibly damaging	Het
Otog	A	C	7: 45,909,381 (GRCm39)	D617A	probably damaging	Het
Ppef2	A	G	5: 92,392,596 (GRCm39)	I267T	probably damaging	Het
Ptprq	A	G	10: 107,471,226 (GRCm39)	Y1392H	probably benign	Het
Rasgrp3	G	T	17: 75,832,097 (GRCm39)	K639N	possibly damaging	Het
Rgs19	C	T	2: 181,330,943 (GRCm39)	R203H	probably benign	Het
Scnn1g	C	A	7: 121,341,669 (GRCm39)		probably benign	Het
Tmem181b-ps	T	C	17: 6,734,320 (GRCm39)		noncoding transcript	Het
Vmn2r118	A	G	17: 55,917,870 (GRCm39)	V214A	possibly damaging	Het
Zfp811	T	C	17: 33,016,789 (GRCm39)	Y417C	probably damaging	Het

Other mutations in Apobec3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1863:Apobec3	UTSW	15	79,782,068 (GRCm39)	missense	possibly damaging	0.58
R1885:Apobec3	UTSW	15	79,781,906 (GRCm39)	missense	probably damaging	1.00
R3815:Apobec3	UTSW	15	79,783,301 (GRCm39)	missense	possibly damaging	0.95
R4175:Apobec3	UTSW	15	79,779,653 (GRCm39)	missense	probably damaging	1.00
R4677:Apobec3	UTSW	15	79,779,713 (GRCm39)	missense	probably damaging	0.99
R4780:Apobec3	UTSW	15	79,783,225 (GRCm39)	missense	possibly damaging	0.84
R5540:Apobec3	UTSW	15	79,782,120 (GRCm39)	missense	probably benign	0.01
R5830:Apobec3	UTSW	15	79,783,268 (GRCm39)	missense	possibly damaging	0.84
R5945:Apobec3	UTSW	15	79,782,047 (GRCm39)	missense	probably damaging	1.00
R6535:Apobec3	UTSW	15	79,781,950 (GRCm39)	makesense	probably null
R9222:Apobec3	UTSW	15	79,783,270 (GRCm39)	missense
R9280:Apobec3	UTSW	15	79,791,082 (GRCm39)	missense
R9594:Apobec3	UTSW	15	79,790,653 (GRCm39)	missense
X0066:Apobec3	UTSW	15	79,789,725 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16