Mutagenetix > Incidental Mutation

Incidental Mutation 'R4175:Apobec3'

318281

Institutional Source

Beutler Lab

Gene Symbol

Apobec3

Ensembl Gene

ENSMUSG00000009585

Gene Name

apolipoprotein B mRNA editing enzyme, catalytic polypeptide 3

Synonyms

Rfv-3, Gm20117, Rfv3, CEM15

MMRRC Submission

041013-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4175 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79775860-79800107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79779653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 43 (N43S)

Ref Sequence

ENSEMBL: ENSMUSP00000135027 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000109620
AA Change: N32S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105249
Gene: ENSMUSG00000009585
AA Change: N32S

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

possibly damaging
Transcript: ENSMUST00000165537
AA Change: N32S

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132391
Gene: ENSMUSG00000009585
AA Change: N32S

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 damaging
Transcript: ENSMUST00000175714
AA Change: N43S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135027
Gene: ENSMUSG00000009585
AA Change: N43S

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 damaging
Transcript: ENSMUST00000175752
AA Change: N43S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135358
Gene: ENSMUSG00000009585
AA Change: N43S

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

probably damaging
Transcript: ENSMUST00000177098
AA Change: N43S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135079
Gene: ENSMUSG00000009585
AA Change: N43S

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 damaging
Transcript: ENSMUST00000176325
AA Change: N43S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134838
Gene: ENSMUSG00000009585
AA Change: N43S

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

noncoding transcript
Transcript: ENSMUST00000176823

Predicted Effect

probably damaging
Transcript: ENSMUST00000176868
AA Change: N43S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176644

Predicted Effect

probably benign
Transcript: ENSMUST00000230741

Predicted Effect

probably benign
Transcript: ENSMUST00000177006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230175

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: 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: ENSMUST00000230410

Predicted Effect

probably benign
Transcript: ENSMUST00000230135

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

Meta Mutation Damage Score

0.6537

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (46/48)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd63	T	C	2: 118,533,100 (GRCm39)	M274V	probably benign	Het
Ano6	A	T	15: 95,860,050 (GRCm39)	D724V	probably damaging	Het
Arfgef1	T	C	1: 10,229,861 (GRCm39)	H1280R	probably damaging	Het
Cbfa2t3	C	T	8: 123,370,057 (GRCm39)	V139M	probably damaging	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Clmp	A	T	9: 40,682,432 (GRCm39)	N72I	probably benign	Het
Col11a1	A	C	3: 114,001,872 (GRCm39)	D432A	possibly damaging	Het
Creb3l1	A	G	2: 91,813,520 (GRCm39)	F506L	probably benign	Het
Ctbp1	A	G	5: 33,424,250 (GRCm39)	S47P	probably damaging	Het
Dus1l	G	A	11: 120,686,506 (GRCm39)	R12C	possibly damaging	Het
Elp5	T	C	11: 69,861,388 (GRCm39)	Q197R	probably null	Het
Epb41l4b	A	G	4: 57,076,556 (GRCm39)	V326A	probably damaging	Het
Fhdc1	T	C	3: 84,364,294 (GRCm39)		probably benign	Het
Gm27013	T	A	6: 130,654,110 (GRCm39)	T451S	probably benign	Het
Ifi208	A	T	1: 173,510,267 (GRCm39)	M141L	probably benign	Het
Inpp5e	A	G	2: 26,290,937 (GRCm39)	S377P	probably damaging	Het
Kat2a	A	G	11: 100,596,092 (GRCm39)	L822P	probably damaging	Het
Kcnip2	G	C	19: 45,800,654 (GRCm39)	T24S	probably benign	Het
Med17	A	G	9: 15,178,765 (GRCm39)	Y469H	possibly damaging	Het
Mindy3	C	T	2: 12,410,676 (GRCm39)	C77Y	probably damaging	Het
Mmp1a	A	G	9: 7,467,236 (GRCm39)	T271A	probably benign	Het
Ncor2	A	T	5: 125,128,020 (GRCm39)	S118T	probably damaging	Het
Or5ak24	A	T	2: 85,260,962 (GRCm39)	D70E	probably damaging	Het
Osmr	A	T	15: 6,882,027 (GRCm39)	V39D	probably damaging	Het
Pcdh15	G	A	10: 74,467,829 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,763,889 (GRCm39)	K836E	probably damaging	Het
Phaf1	T	C	8: 105,967,763 (GRCm39)	L218P	probably benign	Het
Pik3r1	A	T	13: 101,838,240 (GRCm39)	L272H	probably damaging	Het
Pik3r1	G	A	13: 101,838,241 (GRCm39)	L272F	probably benign	Het
Prrc2b	G	GCT	2: 32,108,820 (GRCm39)		probably benign	Het
Ptprq	T	G	10: 107,547,778 (GRCm39)	I207L	probably benign	Het
Rasa2	G	T	9: 96,442,830 (GRCm39)	T531K	probably benign	Het
Six4	G	A	12: 73,155,605 (GRCm39)	T454I	probably damaging	Het
Slc26a6	G	A	9: 108,731,416 (GRCm39)		probably benign	Het
Slc7a13	G	A	4: 19,819,492 (GRCm39)	G231R	probably null	Het
Slco3a1	T	A	7: 73,968,302 (GRCm39)	N473Y	probably damaging	Het
Tapt1	G	A	5: 44,334,447 (GRCm39)	L515F	probably benign	Het
Tmem145	T	C	7: 25,008,218 (GRCm39)	I253T	probably benign	Het
Trip11	G	A	12: 101,861,957 (GRCm39)	Q203*	probably null	Het
Unc13a	A	G	8: 72,120,368 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,173,970 (GRCm39)	V101A	probably benign	Het
Zfp36l3	T	C	X: 52,777,840 (GRCm39)	T125A	possibly damaging	Het

Other mutations in Apobec3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02529:Apobec3	APN	15	79,781,888 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCGGCAAGATTTGTCTC -3'
(R):5'- TGTTTGCATCCGAATCGTGGTC -3'

Sequencing Primer
(F):5'- GCGGCAAGATTTGTCTCCTCTC -3'
(R):5'- GAATCGTGGTCTCGCTGATCC -3'

Posted On

2015-06-10