Incidental Mutation 'R5945:Apobec3'
ID 460577
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 044137-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5945 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79775860-79800107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79782047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 19 (T19I)
Ref Sequence ENSEMBL: ENSMUSP00000134938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023054] [ENSMUST00000109620] [ENSMUST00000165537] [ENSMUST00000175714] [ENSMUST00000175752] [ENSMUST00000176904] [ENSMUST00000176325] [ENSMUST00000177098] [ENSMUST00000177350] [ENSMUST00000177483] [ENSMUST00000230135] [ENSMUST00000176868] [ENSMUST00000177006] [ENSMUST00000230741]
AlphaFold Q99J72
Predicted Effect possibly damaging
Transcript: ENSMUST00000023054
AA Change: T19I

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023054
Gene: ENSMUSG00000009585
AA Change: T19I

DomainStartEndE-ValueType
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: T118I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105249
Gene: ENSMUSG00000009585
AA Change: T118I

DomainStartEndE-ValueType
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: T118I

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132391
Gene: ENSMUSG00000009585
AA Change: T118I

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000175714
AA Change: T129I

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135027
Gene: ENSMUSG00000009585
AA Change: T129I

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000175752
AA Change: T129I

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135358
Gene: ENSMUSG00000009585
AA Change: T129I

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000176904
AA Change: T19I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135502
Gene: ENSMUSG00000009585
AA Change: T19I

DomainStartEndE-ValueType
Pfam:APOBEC_N 1 84 7.4e-21 PFAM
Pfam:APOBEC_C 37 85 2.7e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176325
AA Change: T129I

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134838
Gene: ENSMUSG00000009585
AA Change: T129I

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000177098
AA Change: T129I

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135079
Gene: ENSMUSG00000009585
AA Change: T129I

DomainStartEndE-ValueType
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: ENSMUST00000177350
AA Change: T19I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134938
Gene: ENSMUSG00000009585
AA Change: T19I

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000177483
AA Change: T19I

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135011
Gene: ENSMUSG00000009585
AA Change: T19I

DomainStartEndE-ValueType
Pfam:APOBEC_N 1 99 1.3e-22 PFAM
Pfam:APOBEC_C 37 91 8.1e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176823
Predicted Effect probably benign
Transcript: ENSMUST00000230135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230175
Predicted Effect probably benign
Transcript: ENSMUST00000176868
Predicted Effect probably benign
Transcript: ENSMUST00000177006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230410
Predicted Effect probably benign
Transcript: ENSMUST00000230741
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (101/101)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,601 (GRCm39) noncoding transcript Het
Abca13 C T 11: 9,243,398 (GRCm39) H1754Y probably benign Het
Abi1 T C 2: 22,929,977 (GRCm39) E34G probably damaging Het
Arel1 C A 12: 84,973,121 (GRCm39) V559L probably benign Het
Arhgef10 T C 8: 15,030,028 (GRCm39) probably null Het
Asb6 T C 2: 30,718,215 (GRCm39) probably benign Het
Asxl2 T C 12: 3,550,439 (GRCm39) V727A possibly damaging Het
Atp13a5 C A 16: 29,055,995 (GRCm39) R1100L probably benign Het
Atp6v1a A G 16: 43,920,309 (GRCm39) V429A probably damaging Het
Caml A G 13: 55,776,445 (GRCm39) Y228C probably damaging Het
Ccdc14 A G 16: 34,543,958 (GRCm39) E772G probably damaging Het
Ccdc96 A G 5: 36,643,194 (GRCm39) E400G probably damaging Het
Ces1h T A 8: 94,090,254 (GRCm39) E266V probably benign Het
Chd5 G T 4: 152,464,408 (GRCm39) Q1522H probably benign Het
CN725425 T A 15: 91,129,980 (GRCm39) I281N possibly damaging Het
Cngb3 A T 4: 19,283,579 (GRCm39) E62V probably null Het
Cops5 T A 1: 10,108,235 (GRCm39) probably benign Het
Crhr2 T A 6: 55,077,667 (GRCm39) I232F possibly damaging Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Ddx31 T A 2: 28,749,902 (GRCm39) I308N probably damaging Het
Efcab14 T A 4: 115,613,664 (GRCm39) V204D probably damaging Het
Emsy T C 7: 98,268,590 (GRCm39) T484A probably damaging Het
Ep400 A T 5: 110,830,732 (GRCm39) I2257N unknown Het
Epb41l4a T A 18: 33,961,783 (GRCm39) Q420L possibly damaging Het
Fat4 A G 3: 39,037,355 (GRCm39) D3669G probably benign Het
Fmnl2 C A 2: 53,004,211 (GRCm39) T607K probably damaging Het
Glod4 T C 11: 76,125,297 (GRCm39) Y135C probably damaging Het
Gm10912 A G 2: 103,896,961 (GRCm39) I33M possibly damaging Het
Gm5592 T C 7: 40,865,036 (GRCm39) probably benign Het
Gria4 A G 9: 4,456,122 (GRCm39) L726P probably damaging Het
H2-M10.4 T C 17: 36,771,518 (GRCm39) E220G probably benign Het
Itga1 T G 13: 115,103,126 (GRCm39) N1102H probably benign Het
Itpk1 A G 12: 102,554,812 (GRCm39) I6T probably damaging Het
Kcnh4 T C 11: 100,636,148 (GRCm39) D833G probably damaging Het
Kdm1a T C 4: 136,296,012 (GRCm39) probably null Het
Kif24 G A 4: 41,428,670 (GRCm39) Q97* probably null Het
Klhl2 T C 8: 65,202,762 (GRCm39) I479V probably benign Het
Large1 T C 8: 73,578,828 (GRCm39) Y459C probably damaging Het
Lcn8 T G 2: 25,545,509 (GRCm39) L169R probably damaging Het
Loxl3 T G 6: 83,014,492 (GRCm39) S133R probably damaging Het
Lyzl4 A G 9: 121,413,529 (GRCm39) Y4H unknown Het
Marchf7 A G 2: 60,071,331 (GRCm39) K612E probably damaging Het
Mreg C T 1: 72,231,359 (GRCm39) G33D probably benign Het
Ms4a6c A C 19: 11,457,863 (GRCm39) probably benign Het
Nrbf2 G A 10: 67,103,299 (GRCm39) S268F possibly damaging Het
Oog4 T A 4: 143,164,293 (GRCm39) I341F probably benign Het
Or4k5 A G 14: 50,386,220 (GRCm39) V37A probably benign Het
Or5h26 A G 16: 58,988,482 (GRCm39) L8P probably benign Het
Or5h27 C T 16: 59,006,091 (GRCm39) V252I unknown Het
Or5l14 A T 2: 87,792,946 (GRCm39) C97S probably damaging Het
Pcdhb5 G A 18: 37,454,523 (GRCm39) R301Q probably benign Het
Podn T C 4: 107,878,910 (GRCm39) K174R possibly damaging Het
Pphln1 T C 15: 93,353,413 (GRCm39) probably null Het
Ppp2r1a C G 17: 21,179,675 (GRCm39) H112D possibly damaging Het
Prmt5 A G 14: 54,752,344 (GRCm39) F151L possibly damaging Het
Ptch1 A T 13: 63,721,233 (GRCm39) probably benign Het
Rgl2 A G 17: 34,151,012 (GRCm39) probably null Het
Ryr2 A T 13: 11,675,008 (GRCm39) I3373N probably damaging Het
Scap A G 9: 110,213,664 (GRCm39) N1209S probably benign Het
Sin3b T C 8: 73,457,793 (GRCm39) S170P probably damaging Het
Slc22a4 A T 11: 53,886,854 (GRCm39) I296N probably damaging Het
Slco1a8 T A 6: 141,940,008 (GRCm39) N145I probably damaging Het
Slco2a1 T C 9: 102,923,989 (GRCm39) S68P probably damaging Het
Snx8 A G 5: 140,339,235 (GRCm39) C161R probably benign Het
Spryd3 C T 15: 102,026,630 (GRCm39) C347Y probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Strn3 T C 12: 51,676,279 (GRCm39) T333A probably benign Het
Swt1 T A 1: 151,286,921 (GRCm39) E190D probably benign Het
Tchh A T 3: 93,352,644 (GRCm39) I695F unknown Het
Tfap4 G A 16: 4,363,493 (GRCm39) S314L possibly damaging Het
Tigd3 G T 19: 5,941,894 (GRCm39) T412K probably benign Het
Tmem184b T A 15: 79,249,681 (GRCm39) probably null Het
Trpa1 T C 1: 14,968,359 (GRCm39) D469G probably benign Het
Tssk1 T C 16: 17,712,565 (GRCm39) F117L probably damaging Het
Tuba3b T A 6: 145,565,471 (GRCm39) M313K probably damaging Het
Tubgcp6 T C 15: 88,993,420 (GRCm39) probably null Het
Vav1 A G 17: 57,608,870 (GRCm39) K345E possibly damaging Het
Zdhhc4 G A 5: 143,310,641 (GRCm39) R64C probably damaging Het
Zfp280d T A 9: 72,269,614 (GRCm39) L892* probably null Het
Zfp46 T A 4: 136,014,528 (GRCm39) M3K probably damaging Het
Zfp607b C A 7: 27,401,841 (GRCm39) P99Q probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp990 T A 4: 145,264,613 (GRCm39) I537N probably damaging Het
Other mutations in Apobec3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACTATGCCCTGAATGCTGAG -3'
(R):5'- CTTCACCATATGGCAGACCC -3'

Sequencing Primer
(F):5'- CCTGAATGCTGAGGGACAC -3'
(R):5'- TGGCAGACCCACATACCCTC -3'
Posted On 2017-02-28