Incidental Mutation 'IGL02420:Apobec1'
ID 292635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apobec1
Ensembl Gene ENSMUSG00000040613
Gene Name apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02420
Quality Score
Status
Chromosome 6
Chromosomal Location 122554751-122579403 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122558531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 75 (Y75N)
Ref Sequence ENSEMBL: ENSMUSP00000145417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112585] [ENSMUST00000112586] [ENSMUST00000112587] [ENSMUST00000203197] [ENSMUST00000203204] [ENSMUST00000203309]
AlphaFold P51908
Predicted Effect probably benign
Transcript: ENSMUST00000112585
AA Change: Y75N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108204
Gene: ENSMUSG00000040613
AA Change: Y75N

DomainStartEndE-ValueType
Pfam:APOBEC_N 15 181 3.6e-38 PFAM
Pfam:APOBEC_C 124 178 9.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112586
AA Change: Y75N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108205
Gene: ENSMUSG00000040613
AA Change: Y75N

DomainStartEndE-ValueType
Pfam:APOBEC_N 15 181 3.6e-38 PFAM
Pfam:APOBEC_C 124 178 9.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112587
AA Change: Y75N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108206
Gene: ENSMUSG00000040613
AA Change: Y75N

DomainStartEndE-ValueType
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
AA Change: Y75N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145154
Gene: ENSMUSG00000040613
AA Change: Y75N

DomainStartEndE-ValueType
Pfam:APOBEC_N 21 113 1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203309
AA Change: Y75N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000145417
Gene: ENSMUSG00000040613
AA Change: Y75N

DomainStartEndE-ValueType
Pfam:APOBEC_N 21 121 1.6e-17 PFAM
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,187,494 (GRCm39) N136S probably damaging Het
Adcy8 A G 15: 64,659,303 (GRCm39) S496P probably damaging Het
Agbl3 T A 6: 34,762,242 (GRCm39) S81T possibly damaging Het
Asic2 A G 11: 80,772,479 (GRCm39) L517P probably benign Het
Atp8a1 A G 5: 67,840,126 (GRCm39) S752P probably damaging Het
Blm T C 7: 80,145,754 (GRCm39) Y775C probably damaging Het
C1qtnf5 T C 9: 44,019,901 (GRCm39) I175T probably benign Het
Ccdc81 G A 7: 89,524,946 (GRCm39) T545I probably benign Het
Ccdc88b T C 19: 6,834,317 (GRCm39) E174G probably damaging Het
Chl1 G A 6: 103,692,330 (GRCm39) V1066M probably damaging Het
Cntn6 T A 6: 104,823,103 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyren T C 6: 34,851,404 (GRCm39) Y150C probably damaging Het
Cysrt1 T C 2: 25,129,360 (GRCm39) I51V probably benign Het
Dnah7a T C 1: 53,725,702 (GRCm39) N69S probably benign Het
Fam83d T C 2: 158,627,655 (GRCm39) L448P probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Hmcn1 T C 1: 150,598,175 (GRCm39) Y1709C probably damaging Het
Inppl1 G A 7: 101,481,526 (GRCm39) probably benign Het
Iqcc T C 4: 129,510,748 (GRCm39) T256A probably benign Het
Itprid2 T C 2: 79,465,986 (GRCm39) S35P probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Lyz1 A T 10: 117,124,535 (GRCm39) C134S probably damaging Het
Mpzl3 T C 9: 44,977,815 (GRCm39) I141T possibly damaging Het
Mterf1a T C 5: 3,941,047 (GRCm39) N274D probably damaging Het
Myo18a T A 11: 77,709,519 (GRCm39) V543D possibly damaging Het
Myo18b A T 5: 112,975,852 (GRCm39) D1332E possibly damaging Het
Or2r11 A G 6: 42,437,110 (GRCm39) V281A probably benign Het
Pcdh15 A T 10: 74,138,938 (GRCm39) D333V probably damaging Het
Plekha7 A G 7: 115,757,469 (GRCm39) Y494H probably damaging Het
Plekhg1 A G 10: 3,914,106 (GRCm39) N1276S probably damaging Het
Ppig T C 2: 69,562,571 (GRCm39) V5A probably benign Het
Prag1 A T 8: 36,614,580 (GRCm39) probably benign Het
Prom1 T C 5: 44,220,496 (GRCm39) N84S probably benign Het
Ptprh T A 7: 4,583,929 (GRCm39) Y221F probably damaging Het
Qsox2 A G 2: 26,110,731 (GRCm39) Y162H probably benign Het
Rab2a C T 4: 8,572,553 (GRCm39) T49M possibly damaging Het
Ring1 A G 17: 34,242,122 (GRCm39) S96P possibly damaging Het
Ripk3 A G 14: 56,022,691 (GRCm39) F411S probably benign Het
Rock1 T C 18: 10,070,619 (GRCm39) probably null Het
Rtn4rl1 A G 11: 75,156,645 (GRCm39) N359S probably damaging Het
Sufu A G 19: 46,413,481 (GRCm39) T76A probably damaging Het
Sugct C A 13: 17,627,053 (GRCm39) V267F probably damaging Het
Tcf4 A T 18: 69,697,210 (GRCm39) R29W probably damaging Het
Tnfsf18 A T 1: 161,331,158 (GRCm39) I103L probably benign Het
Vwf A G 6: 125,654,879 (GRCm39) E2525G probably benign Het
Other mutations in Apobec1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01993:Apobec1 APN 6 122,565,138 (GRCm39) splice site probably benign
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
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
Posted On 2015-04-16