Incidental Mutation 'R8426:Aicda'
ID 653474
Institutional Source Beutler Lab
Gene Symbol Aicda
Ensembl Gene ENSMUSG00000040627
Gene Name activation-induced cytidine deaminase
Synonyms Aid
MMRRC Submission 067820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8426 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 122530768-122541139 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122538150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 103 (N103Y)
Ref Sequence ENSEMBL: ENSMUSP00000040524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043301] [ENSMUST00000160685]
AlphaFold Q9WVE0
Predicted Effect probably damaging
Transcript: ENSMUST00000043301
AA Change: N103Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040524
Gene: ENSMUSG00000040627
AA Change: N103Y

DomainStartEndE-ValueType
Pfam:APOBEC_N 11 178 4.6e-66 PFAM
Pfam:APOBEC_C 120 171 1.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160685
SMART Domains Protein: ENSMUSP00000125093
Gene: ENSMUSG00000040627

DomainStartEndE-ValueType
Pfam:APOBEC_C 1 35 6.3e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous mutation of this gene results in elevated IgM levels and impairment of B cell class switching. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,155,606 (GRCm39) H32R probably benign Het
Abcb1b T C 5: 8,911,632 (GRCm39) probably null Het
Bsn T C 9: 108,003,772 (GRCm39) E211G probably damaging Het
Casp9 T C 4: 141,540,936 (GRCm39) Y435H probably damaging Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ceacam5 T C 7: 17,493,266 (GRCm39) V763A possibly damaging Het
Cxcr6 A G 9: 123,639,071 (GRCm39) N31S probably benign Het
Elapor1 G A 3: 108,378,742 (GRCm39) A352V probably damaging Het
Gm17728 A G 17: 9,641,231 (GRCm39) T114A probably benign Het
Gnao1 A T 8: 94,622,857 (GRCm39) probably null Het
Iffo2 A T 4: 139,342,291 (GRCm39) Y451F probably damaging Het
Ints4 G A 7: 97,150,239 (GRCm39) W258* probably null Het
Ipo11 T C 13: 106,978,678 (GRCm39) D834G possibly damaging Het
Kif5a T C 10: 127,067,358 (GRCm39) D853G probably damaging Het
Lama4 A G 10: 38,979,487 (GRCm39) E1655G probably damaging Het
Lepr G A 4: 101,671,841 (GRCm39) S955N probably benign Het
Lrp1b T C 2: 41,388,318 (GRCm39) I550V Het
Mov10l1 T A 15: 88,881,608 (GRCm39) probably null Het
Mroh9 A T 1: 162,852,294 (GRCm39) D798E probably damaging Het
Myo10 A G 15: 25,799,576 (GRCm39) I1380V probably damaging Het
Neu2 C T 1: 87,524,387 (GRCm39) S124L probably damaging Het
Nol6 T C 4: 41,119,870 (GRCm39) I543V probably benign Het
Nrxn3 G A 12: 88,762,097 (GRCm39) R48H possibly damaging Het
Ogn C T 13: 49,774,567 (GRCm39) R237C possibly damaging Het
Or10aa3 T C 1: 173,878,146 (GRCm39) L69P probably damaging Het
Or8b46 A T 9: 38,450,620 (GRCm39) Y143F probably damaging Het
Phf24 C T 4: 42,933,785 (GRCm39) Q19* probably null Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ptch2 G T 4: 116,965,369 (GRCm39) S318I possibly damaging Het
Sart1 A G 19: 5,433,769 (GRCm39) M356T probably benign Het
Slit2 A G 5: 48,382,105 (GRCm39) N529D probably benign Het
Smchd1 A C 17: 71,755,598 (GRCm39) D261E probably damaging Het
Tcerg1 G A 18: 42,681,466 (GRCm39) V538I possibly damaging Het
Thada A T 17: 84,530,131 (GRCm39) M1746K probably benign Het
Thsd1 A G 8: 22,733,654 (GRCm39) I234V probably benign Het
Tm9sf4 G A 2: 153,045,736 (GRCm39) G536D probably damaging Het
Tmprss11c G T 5: 86,379,677 (GRCm39) N410K probably damaging Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Unc5d G T 8: 29,210,016 (GRCm39) S440Y probably damaging Het
Vmn1r44 A G 6: 89,870,470 (GRCm39) D72G probably benign Het
Vmn1r68 T C 7: 10,261,382 (GRCm39) N239D probably benign Het
Vmn2r107 T A 17: 20,577,239 (GRCm39) H412Q possibly damaging Het
Other mutations in Aicda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Aicda APN 6 122,538,012 (GRCm39) missense probably damaging 1.00
IGL03328:Aicda APN 6 122,539,396 (GRCm39) missense probably benign 0.01
bellezza UTSW 6 122,538,144 (GRCm39) missense probably benign 0.03
creeper UTSW 6 122,538,826 (GRCm39) missense probably damaging 1.00
R1370:Aicda UTSW 6 122,538,144 (GRCm39) missense probably benign
R2207:Aicda UTSW 6 122,538,244 (GRCm39) missense possibly damaging 0.88
R4012:Aicda UTSW 6 122,536,449 (GRCm39) missense probably benign 0.07
R4177:Aicda UTSW 6 122,538,043 (GRCm39) missense probably benign 0.00
R4698:Aicda UTSW 6 122,530,847 (GRCm39) start gained probably benign
R5000:Aicda UTSW 6 122,538,826 (GRCm39) missense probably damaging 1.00
R5110:Aicda UTSW 6 122,538,144 (GRCm39) missense probably benign 0.03
R7874:Aicda UTSW 6 122,538,908 (GRCm39) missense probably damaging 1.00
R8203:Aicda UTSW 6 122,538,076 (GRCm39) missense possibly damaging 0.79
R9278:Aicda UTSW 6 122,538,854 (GRCm39) missense possibly damaging 0.91
R9615:Aicda UTSW 6 122,538,113 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGCATCCCAAATGGCCTGG -3'
(R):5'- GTCTTTAAGTAGCACCCCACCC -3'

Sequencing Primer
(F):5'- ATGCAGGTCACGTCACCAGTG -3'
(R):5'- AGTTTCCCCGCTGACACTCAC -3'
Posted On 2020-10-20